cleft lip

Summary

Summary: Congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences. It is thought to be caused by faulty migration of the mesoderm in the head region.

Top Publications

  1. pmc Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip
    Fedik Rahimov
    Department of Pediatrics, University of Iowa, 2182 ML, S Grand Ave, Iowa City, Iowa 52242, USA
    Nat Genet 40:1341-7. 2008
  2. pmc Cleft lip and palate: understanding genetic and environmental influences
    Michael J Dixon
    Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, Michael Smith Building, University of Manchester, Oxford Road, Manchester M13 9PT, UK
    Nat Rev Genet 12:167-78. 2011
  3. ncbi Cleft lip and palate
    Peter A Mossey
    Department of Dental and Oral Health, University of Dundee, Dental Hospital and School, Dundee, UK
    Lancet 374:1773-85. 2009
  4. pmc A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4
    Terri H Beaty
    Johns Hopkins University, School of Public Health, Baltimore, Maryland, USA
    Nat Genet 42:525-9. 2010
  5. ncbi Gene/environment causes of cleft lip and/or palate
    J C Murray
    Department of Pediatrics, University of Iowa, Iowa City 52242, USA
    Clin Genet 61:248-56. 2002
  6. pmc Mutant p63 causes defective expansion of ectodermal progenitor cells and impaired FGF signalling in AEC syndrome
    Giustina Ferone
    Fondazione IRCCS SDN, Napoli, Italy
    EMBO Mol Med 4:192-205. 2012
  7. pmc Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci
    Kerstin U Ludwig
    Institute of Human Genetics, University of Bonn, Germany
    Nat Genet 44:968-71. 2012
  8. ncbi Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate
    Elisabeth Mangold
    Institute of Human Genetics, Life and Brain Center, University of Bonn, Bonn, Germany
    Nat Genet 42:24-6. 2010
  9. pmc Association of MSX1 and TGFB3 with nonsyndromic clefting in humans
    A C Lidral
    Department of Orthodontics, Ohio State University, Columbus, USA
    Am J Hum Genet 63:557-68. 1998
  10. ncbi Humanitarian missions in the third world: a polite dissent
    Christian C Dupuis
    Plast Reconstr Surg 113:433-5. 2004

Detail Information

Publications330 found, 100 shown here

  1. pmc Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip
    Fedik Rahimov
    Department of Pediatrics, University of Iowa, 2182 ML, S Grand Ave, Iowa City, Iowa 52242, USA
    Nat Genet 40:1341-7. 2008
    Previously we have shown that nonsyndromic cleft lip with or without cleft palate (NSCL/P) is strongly associated with SNPs in IRF6 (interferon regulatory factor 6)...
  2. pmc Cleft lip and palate: understanding genetic and environmental influences
    Michael J Dixon
    Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, Michael Smith Building, University of Manchester, Oxford Road, Manchester M13 9PT, UK
    Nat Rev Genet 12:167-78. 2011
    ..These findings have advanced our understanding of developmental biology and created new opportunities for clinical translational research...
  3. ncbi Cleft lip and palate
    Peter A Mossey
    Department of Dental and Oral Health, University of Dundee, Dental Hospital and School, Dundee, UK
    Lancet 374:1773-85. 2009
    Clefts of the lip and palate are generally divided into two groups, isolated cleft palate and cleft lip with or without cleft palate, representing a heterogeneous group of disorders affecting the lips and oral cavity...
  4. pmc A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4
    Terri H Beaty
    Johns Hopkins University, School of Public Health, Baltimore, Maryland, USA
    Nat Genet 42:525-9. 2010
    Case-parent trios were used in a genome-wide association study of cleft lip with and without cleft palate...
  5. ncbi Gene/environment causes of cleft lip and/or palate
    J C Murray
    Department of Pediatrics, University of Iowa, Iowa City 52242, USA
    Clin Genet 61:248-56. 2002
    Craniofacial anomalies, and in particular cleft lip and palate, are major human birth defects with a worldwide frequency of 1 in 700 and substantial clinical impact...
  6. pmc Mutant p63 causes defective expansion of ectodermal progenitor cells and impaired FGF signalling in AEC syndrome
    Giustina Ferone
    Fondazione IRCCS SDN, Napoli, Italy
    EMBO Mol Med 4:192-205. 2012
    Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome, which is characterized by cleft palate and severe defects of the skin, is an autosomal dominant disorder caused by mutations in the gene encoding transcription factor ..
  7. pmc Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci
    Kerstin U Ludwig
    Institute of Human Genetics, University of Bonn, Germany
    Nat Genet 44:968-71. 2012
    We have conducted the first meta-analyses for nonsyndromic cleft lip with or without cleft palate (NSCL/P) using data from the two largest genome-wide association studies published to date...
  8. ncbi Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate
    Elisabeth Mangold
    Institute of Human Genetics, Life and Brain Center, University of Bonn, Bonn, Germany
    Nat Genet 42:24-6. 2010
    We conducted a genome-wide association study for nonsyndromic cleft lip with or without cleft palate (NSCL/P) in 401 affected individuals and 1,323 controls, with replication in an independent sample of 793 NSCL/P triads...
  9. pmc Association of MSX1 and TGFB3 with nonsyndromic clefting in humans
    A C Lidral
    Department of Orthodontics, Ohio State University, Columbus, USA
    Am J Hum Genet 63:557-68. 1998
    Nonsyndromic cleft lip with or without cleft palate (CL/P) and nonsyndromic cleft palate only (CPO) are common congenital anomalies with significant medical, psychological, social, and economic ramifications...
  10. ncbi Humanitarian missions in the third world: a polite dissent
    Christian C Dupuis
    Plast Reconstr Surg 113:433-5. 2004
  11. ncbi p63-associated disorders
    Tuula Rinne
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Cell Cycle 6:262-8. 2007
    ..of these features are seen in five different syndromes, of which ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome (EEC) is the most common one...
  12. ncbi Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate
    Theresa M Zucchero
    University of Iowa, Iowa City 52242, USA
    N Engl J Med 351:769-80. 2004
    b>Cleft lip or palate (or the two in combination) is a common birth defect that results from a mixture of genetic and environmental factors...
  13. pmc Evidence of gene-environment interaction for the IRF6 gene and maternal multivitamin supplementation in controlling the risk of cleft lip with/without cleft palate
    Tao Wu
    Johns Hopkins Bloomberg School of Public Health, Baltimore, MD 21205, USA
    Hum Genet 128:401-10. 2010
    Although multiple genes have been identified as genetic risk factors for isolated, non-syndromic cleft lip with/without cleft palate (CL/P), a complex and heterogeneous birth defect, interferon regulatory factor 6 gene (IRF6) is one of ..
  14. pmc Association between IRF6 and nonsyndromic cleft lip with or without cleft palate in four populations
    Ji Wan Park
    Department of Epidemiology, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, Maryland 21205, USA, and Department of Medical Research and Craniofacial Center, Chang Gung Memorial Hospital, Taoyuan, Taiwan
    Genet Med 9:219-27. 2007
    ..factor 6 (IRF6), the gene that causes van der Woude syndrome has been shown to be associated with nonsyndromic cleft lip with or without palate in several populations...
  15. pmc A cohort study of recurrence patterns among more than 54,000 relatives of oral cleft cases in Denmark: support for the multifactorial threshold model of inheritance
    Dorthe Grosen
    Research Centre for the prevention of Infant Mortality and Congenital Illnesses, Institute of Public Health, University of Southern Denmark, JB Winsløws Vej 9, DK 5000 Odense, Denmark
    J Med Genet 47:162-8. 2010
    ..To determine if the anatomical severity of oral clefting affects familial recurrence in a large population based sample. To provide reliable recurrence risk estimates for oral cleft for first, second, and third degree relatives...
  16. ncbi IRF6 gene variants in Central European patients with non-syndromic cleft lip with or without cleft palate
    Stefanie Birnbaum
    Institute of Human Genetics, University of Bonn, Bonn, Germany
    Eur J Oral Sci 117:766-9. 2009
    Variants in the interferon regulatory factor 6 (IRF6) gene have repeatedly been associated with non-syndromic cleft lip with or without cleft palate (NSCL/P)...
  17. ncbi Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24
    Stefanie Birnbaum
    Institute of Human Genetics, University of Bonn, Bonn, Germany
    Nat Genet 41:473-7. 2009
    ..involving 224 cases and 383 controls of Central European origin to identify susceptibility loci for nonsyndromic cleft lip with or without cleft palate (NSCL/P). A 640-kb region at chromosome 8q24...
  18. ncbi MSX1 and TGFB3 contribute to clefting in South America
    A R Vieira
    Departments of Pediatrics, 2613 JCP, University of Iowa, Iowa City, 52242 1083, USA
    J Dent Res 82:289-92. 2003
    ..With transmission disequilibrium test analysis, cleft lip with/without cleft palate, cleft lip with palate plus cleft palate only, and all datasets combined showed ..
  19. pmc Orofacial clefting: recent insights into a complex trait
    Astanand Jugessur
    Department of Paediatrics, University of Iowa, Iowa City, IA 52242, USA
    Curr Opin Genet Dev 15:270-8. 2005
    ..Together, these complementary strategies are providing researchers with new clues as to what mechanisms underlie orofacial clefting...
  20. ncbi Distinct functions for Bmp signaling in lip and palate fusion in mice
    Wei Liu
    Alkek Institute of Biosciences and Technology, Texas A and M System Health Science Center, 2121 Holcombe Boulevard, Houston, TX 77030, USA
    Development 132:1453-61. 2005
    Previous work suggested that cleft lip with or without cleft palate (CL/P) is genetically distinct from isolated cleft secondary palate (CP)...
  21. ncbi Urban-rural residence and the occurrence of cleft lip and cleft palate in Texas, 1999-2003
    Lynne C Messer
    Center for Health Policy, Duke Global Health Institute, Durham, NC 27705, USA
    Ann Epidemiol 20:32-9. 2010
    The etiology of orofacial clefts is complex and relatively unknown. Variation in cleft lip with or without palate (CLP) and cleft palate alone (CP) was examined in Texas across urban-rural residence (1999 to 2003).
  22. ncbi Maternal MTR genotype contributes to the risk of non-syndromic cleft lip and palate in the Polish population
    A Mostowska
    Department of Biochemistry and Molecular Biology, University of Medical Sciences in Poznan, Poznan, Poland
    Clin Genet 69:512-7. 2006
    The aetiology of non-syndromic cleft lip with or without cleft palate (CL/P) is very complex...
  23. ncbi Association between the transforming growth factor alpha gene and nonsyndromic oral clefts: a HuGE review
    Alexandre R Vieira
    Department of Oral Medicine and Pathology, School of Dental Medicine, University of Pittsburgh, 3501 Terrace Street, Pittsburgh, PA 15261, USA
    Am J Epidemiol 163:790-810. 2006
    ..In the aggregate, TGFA is probably a genetic modifier of clefting in humans, which is consistent with the oligogenic model suggested for nonsyndromic oral clefts...
  24. ncbi A case of amelogenesis imperfecta, cleft lip and palate and polycystic kidney disease
    N Suda
    Maxillofacial Orthognathics, Department of Maxillofacial Reconstruction and Function, Division of Maxillofacial Neck Reconstruction, Graduate School, Tokyo Medical and Dental University, Tokyo, Japan
    Orthod Craniofac Res 9:52-6. 2006
    ..To highlight the characteristics of this rare case, extensive analysis that included histological, biochemical and genetic examinations was performed...
  25. ncbi PAX9 and TGFB3 are linked to susceptibility to nonsyndromic cleft lip with or without cleft palate in the Japanese: population-based and family-based candidate gene analyses
    Eisaburo Ichikawa
    Department of Oral and Maxillofacial Surgery, Tokyo Dental College, Chiba, Japan
    J Hum Genet 51:38-46. 2006
    The prevalence of nonsyndromic cleft lip with or without cleft palate (CL/P) and cleft palate only (CPO) are believed to be higher in the Japanese than in Americans, Europeans or Africans...
  26. ncbi Novel nonsense mutation in MSX1 causes tooth agenesis with cleft lip in a Chinese family
    Jia Liang
    The State Key Laboratory Breeding Base of Basic Science of Stomatology, Hubei MOST, and Key Laboratory of Oral Biomedicine Ministry of Education, School and Hospital of Stomatology, Wuhan University, Wuhan, China
    Eur J Oral Sci 120:278-82. 2012
    ..In this study, we investigated a Chinese family with tooth agenesis combined with cleft lip. Genomic DNA was isolated from blood samples of all available family members...
  27. ncbi Genetic analysis of candidate loci in non-syndromic cleft lip families from Antioquia-Colombia and Ohio
    Lina M Moreno
    Dows Institute for Dental Research, University of Iowa, Iowa City, Iowa 52242, USA
    Am J Med Genet A 125:135-44. 2004
    Non-syndromic cleft lip with or without cleft palate (CL/P) is a genetically complex birth defect, with a prevalence from 1/500 to 1/1,000 live births...
  28. ncbi Mutations in AEC syndrome skin reveal a role for p63 in basement membrane adhesion, skin barrier integrity and hair follicle biology
    S E Clements
    St John s Institute of Dermatology, King s College London Guy s Campus, London SE1 9RT, UK
    Br J Dermatol 167:134-44. 2012
    ..Clinically, the skin is dry and often fragile; other features can include partial eyelid fusion (ankyloblepharon), hypodontia, orofacial clefting, sparse hair or alopecia, and nail dystrophy...
  29. pmc Testing reported associations of genetic risk factors for oral clefts in a large Irish study population
    Tonia C Carter
    Division of Epidemiology, Statistics, and Prevention Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, USA
    Birth Defects Res A Clin Mol Teratol 88:84-93. 2010
    ....
  30. pmc VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humans
    Anne M Slavotinek
    Department of Pediatrics, Division of Genetics, University of California, San Francisco, California 94143 0748, USA
    Hum Mutat 33:364-8. 2012
    ..454C>A, predicting p.Arg152Ser, in a proband of Egyptian origin with microphthalmia, small optic nerves, cleft lip/palate, and corpus callosum agenesis...
  31. pmc Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate
    F Laumonnier
    J Med Genet 42:780-6. 2005
    ..the PHD finger protein 8) in two unrelated families with X linked mental retardation (XLMR) associated with cleft lip/palate (MIM 300263)...
  32. ncbi Dentofacial self-perception and social perception of adults with unilateral cleft lip and palate
    Philipp Meyer-Marcotty
    Department of Orthodontics, Dental Clinic of the Medical Faculty, Pleicherwall 2, 97070, Wuerzburg, Germany
    J Orofac Orthop 70:224-36. 2009
    The aim of this study was to investigate the influence of facial asymmetry on how an adult population with unilateral cleft lip and palate (CLP) perceived themselves and were perceived by others.
  33. pmc Evidence that TGFA influences risk to cleft lip with/without cleft palate through unconventional genetic mechanisms
    Jae Woong Sull
    Department of Epidemiology and Health Promotion, Institute for Health Promotion, Graduate School of Public Health, Yonsei University, Seoul, Korea
    Hum Genet 126:385-94. 2009
    ..examined the association between markers in transforming growth factor alpha (TGFA) and isolated, non-syndromic cleft lip with/without palate (CL/P) using a case-parent trio design, considering parent-of-origin effects...
  34. pmc Maternal MTHFR genotype contributes to the risk of non-syndromic cleft lip and palate
    N J Prescott
    J Med Genet 39:368-9. 2002
  35. pmc Risk of oral clefts in twins
    Dorthe Grosen
    Department of Epidemiology, Institute of Public Health, University of Southern Denmark, Odense, Denmark
    Epidemiology 22:313-9. 2011
    ..Small studies have indicated that twinning increases the risk of oral cleft...
  36. ncbi Targeted scan of fifteen regions for nonsyndromic cleft lip and palate in Filipino families
    R E Schultz
    Department of Pediatrics, University of Iowa, Iowa City, Iowa 52242, USA
    Am J Med Genet A 125:17-22. 2004
    b>Cleft lip with or without cleft palate (CL/P) is a congenital anomaly with variable birth prevalence based on geographic origins, with the highest rates commonly found in Asian populations...
  37. ncbi Epidemiological studies on the frequency of clefts in Europe and world-wide
    Karsten K H Gundlach
    Rostock Interdisciplinary Center for Clefts of Lip, Alveolus and Palate and Craniofacial Anomalies, Rostock, University, Germany
    J Craniomaxillofac Surg 34:1-2. 2006
    ..Most textbooks present data on the various frequencies of clefts in different human "races". This was studied in more detail...
  38. ncbi Folic acid antagonists during pregnancy and the risk of birth defects
    S Hernandez-Diaz
    Slone Epidemiology Unit, Boston University School of Public Health, Brookline, Mass 02446, USA
    N Engl J Med 343:1608-14. 2000
    ..We evaluated whether the folic acid component of multivitamins is responsible for the reduction in risk by examining the associations between maternal use of folic acid antagonists and these congenital malformations...
  39. pmc Progress toward discerning the genetics of cleft lip
    Andrew C Lidral
    Department of Orthodontics, University of Iowa, Iowa City, Iowa 52242, USA
    Curr Opin Pediatr 17:731-9. 2005
    ..orofacial clefts are nonsyndromic, isolated defects, which can be separated into two different phenotypes: (1) cleft lip with or without cleft palate and (2) cleft palate only...
  40. ncbi Associations of folate and choline metabolism gene polymorphisms with orofacial clefts
    Adrianna Mostowska
    Department of Biochemistry and Molecular Biology, University of Medical Sciences, Poznan, Poland
    J Med Genet 47:809-15. 2010
    Non-syndromic isolated cleft lip with or without cleft palate (NCL/P) is a common congenital anomaly in humans, the aetiology of which is complex and associated with both genetic and environmental factors...
  41. pmc The impact of orofacial clefts on quality of life and healthcare use and costs
    G L Wehby
    Department of Health Management and Policy, College of Public Health, University of Iowa, Iowa City, IA, USA
    Oral Dis 16:3-10. 2010
    ..A summary of the primary limitations of the studies in this area is presented, along with recommendations and directions for future research...
  42. ncbi A case-control study of nonsyndromic oral clefts in Maryland
    T H Beaty
    The Johns Hopkins University, Baltimore, MD, USA
    Ann Epidemiol 11:434-42. 2001
    ..METHODS: Infants born in Maryland between 1992 to 1998 with an isolated, nonsyndromic oral cleft [cleft lip (CL), cleft lip and palate (CLP), or cleft palate (CP)] were recruited and exposure plus family history data ..
  43. pmc Genetic determinants of facial clefting: analysis of 357 candidate genes using two national cleft studies from Scandinavia
    Astanand Jugessur
    Craniofacial Development, Musculoskeletal Disorders, Murdoch Childrens Research Institute, Royal Children s Hospital, Parkville, Australia
    PLoS ONE 4:e5385. 2009
    ....
  44. pmc Significant association between IRF6 820G->A and non-syndromic cleft lip with or without cleft palate in the Thai population
    C Srichomthong
    Division of Medical Genetics and Metabolism, Department of Paediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand
    J Med Genet 42:e46. 2005
    Previous data have shown an association between DNA sequence variants in the IRF6 gene and an increased risk of non-syndromic cleft lip with or without cleft palate (CL/P) in some populations.
  45. ncbi The bacteriology of children before primary cleft lip and palate surgery
    C B Chuo
    Plastic Surgery, Bradford Royal Infirmary, West Yorkshire, United Kingdom
    Cleft Palate Craniofac J 42:272-6. 2005
    ..Knowledge of potentially pathogenic bacterial flora in children with cleft lip and palate allows appropriate risk management, including the need for prophylactic antibiotics...
  46. pmc Folic acid and orofacial clefts: a review of the evidence
    G L Wehby
    Department of Health Management and Policy, College of Public Health, University of Iowa, Iowa City, IA 52242, USA
    Oral Dis 16:11-9. 2010
    ..The role of folic acid in the prevention of neural tube defects is also briefly summarized and discussed as a reference model for orofacial clefts...
  47. ncbi Effects of orthopedic rapid maxillary expansion on internal nasal dimensions in children with cleft lip and palate assessed by acoustic rhinometry
    Inge Elly Kiemle Trindade
    Bauru School of Dentistry and daggerHospital for Rehabilitation of Craniofacial Anomalies, University of Sao Paulo, Bauru, Sao Paulo, Brazil
    J Craniofac Surg 21:306-11. 2010
    The objective of the current study was to characterize the internal nasal dimensions of children with repaired cleft lip and palate and transverse maxillary deficiency, using acoustic rhinometry and analyze the changes caused by rapid ..
  48. ncbi A quantitative three-dimensional assessment of abnormal variations in facial soft tissues of adult patients with cleft lip and palate
    Virgilio F Ferrario
    Dipartimento di Anatomia Umana, Facoltà di Medicina e Chirurgia and Facoltà di Scienze Motorie, Universita degli Studi di Milano, Milan, Italy
    Cleft Palate Craniofac J 40:544-9. 2003
    To supply quantitative information about the facial soft tissues of adult operated patients with cleft lip and palate (CLP).
  49. ncbi Discharge practices, readmission, and serious medical complications following primary cleft lip repair in 23 U.S. children's hospitals
    Richard A Hopper
    Seattle Children s Hospital Craniofacial Center, Seattle, Wash 98105, USA
    Plast Reconstr Surg 123:1553-9. 2009
    Discharge timing following primary cleft lip repair balances the desire to return patients to their home environment with the risk of serious complications occurring outside a hospital...
  50. ncbi Teratogenicity of sodium valproate
    Rachel Alsdorf
    Boston University School of Medicine, 715 Albany Street, L 320, Boston, MA 02118, USA
    Expert Opin Drug Saf 4:345-53. 2005
    ..associated with a variety of major and minor malformations, including a 20-fold increase in neural tube defects, cleft lip and palate, cardiovascular abnormalities, genitourinary defects, developmental delay, endocrinological disorders,..
  51. ncbi 3D soft tissue changes in facial morphology in patients with cleft lip and palate and class III mal occlusion under therapy with rapid maxillary expansion and delaire facemask
    Claudia Sade Hoefert
    Department of Orthodontics, Eberhard Karl University, Tubingen, Germany
    J Orofac Orthop 71:136-51. 2010
    Rapid Maxillary Expansion (RME) and Delaire facemask are a well-established treatment method for patients with cleft lip and palate and Class III malocclusion...
  52. ncbi Cephalometric evaluation of long-term craniofacial development in unilateral cleft lip and palate patients treated with delayed hard palate closure
    P J P M Nollet
    Department of Orthodontics and Oral Biology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Int J Oral Maxillofac Surg 37:123-30. 2008
    ..cephalometric study aimed to evaluate the craniofacial development of patients with a complete unilateral cleft lip and palate treated with a two-stage palatal closure, including delayed closure of the hard palate...
  53. pmc Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome
    Stephen R F Twigg
    Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, United Kingdom
    Proc Natl Acad Sci U S A 101:8652-7. 2004
    ..This is the only known mutation in the ephrin/Eph receptor signaling system in humans and provides clues to the biogenesis of craniosynostosis...
  54. ncbi Rhinologic computed tomographic evaluation in patients with cleft lip and palate
    H Suzuki
    Department of Otolaryngology, Sendai National Hospital, Japan
    Arch Otolaryngol Head Neck Surg 125:1000-4. 1999
    To investigate the anatomical characteristics of the nasal cavity and paranasal sinuses in relation to the presence of sinusitis in patients with cleft lip and palate.
  55. pmc Folate and one-carbon metabolism gene polymorphisms and their associations with oral facial clefts
    Abee L Boyles
    Epidemiology Branch, National Institute of Environmental Health Sciences NIH, Durham, North Carolina 27709, USA
    Am J Med Genet A 146:440-9. 2008
    ..to one-carbon metabolism and clefts in a Norwegian population-based study that included 362 families with cleft lip with or without cleft palate (CL/P) and 191 families with cleft palate only (CPO)...
  56. ncbi Prevalence of dental anomalies in a population of cleft lip and palate patients
    Ghaida A Al Jamal
    Department of Oral Medicine and Oral Surgery, Faculty of Dentistry, Jordan University of Science and Technology, Irbid, Jordan
    Cleft Palate Craniofac J 47:413-20. 2010
    The aim of our study was to investigate radiographically the prevalence of dental anomalies in a group of Jordanian cleft lip and/or palate subjects.
  57. ncbi Oral clefts, maternal smoking, and TGFA: a meta-analysis of gene-environment interaction
    Joanna S Zeiger
    Johns Hopkins Bloomberg School of Hygiene and Public Health, Baltimore, Maryland, USA
    Cleft Palate Craniofac J 42:58-63. 2005
    ..among maternal cigarette smoking, infant genotype at the Taq1 site in the transforming growth factor alpha (TGFA) locus, and risk of nonsyndromic oral clefts, both cleft palate (CP) and cleft lip with or without cleft palate (CL/P).
  58. ncbi Birth prevalence of cleft lip and palate in Northern Ireland (1981 to 2000)
    T A Gregg
    Royal Belfast Hospital for Sick Children, 180 Falls Road, Belfast, Ireland
    Cleft Palate Craniofac J 45:141-7. 2008
    The prevalence of cleft lip and/or palate (CL/P) in Northern Ireland (NI) was last reported for 1980 through 1990...
  59. pmc Variation in WNT genes is associated with non-syndromic cleft lip with or without cleft palate
    Brett T Chiquet
    University of Texas Medical School, Houston, TX 77030, USA
    Hum Mol Genet 17:2212-8. 2008
    Non-syndromic cleft lip with or without cleft palate (NSCLP) is a common birth defect. Genetic and environmental factors have been causally implicated and studies have begun to delineate genetic contributions...
  60. ncbi Cleft lip and palate versus cleft lip only: are they distinct defects?
    Emily W Harville
    Department of Epidemiology, University of North Carolina Chapel Hill, Chapel Hill, NC 27599 7435, USA
    Am J Epidemiol 162:448-53. 2005
    b>Cleft lip defects are usually regarded as a single entity, with the assumption that an accompanying cleft palate represents the more severe form...
  61. pmc Human stem cell cultures from cleft lip/palate patients show enrichment of transcripts involved in extracellular matrix modeling by comparison to controls
    Daniela Franco Bueno
    Human Genome Research Center, Biosciences Institute of University of Sao Paulo USP, Sao Paulo, Sao Paulo, Brazil
    Stem Cell Rev 7:446-57. 2011
    Nonsyndromic cleft lip and palate (NSCL/P) is a complex disease resulting from failure of fusion of facial primordia, a complex developmental process that includes the epithelial-mesenchymal transition (EMT)...
  62. ncbi Volumetric assessment of secondary alveolar bone grafting using cone beam computed tomography
    Snehlata Oberoi
    Center for Craniofacial Anomalies, Department of Orofacial Sciences, University of California at San Francisco, 94143, USA
    Cleft Palate Craniofac J 46:503-11. 2009
    To assess the radiographic outcome of secondary alveolar bone grafting in individuals with nonsyndromic unilateral or bilateral cleft lip and palate using cone beam computed tomography.
  63. pmc Association between IRF6 SNPs and oral clefts in West China
    Y Huang
    State Key Laboratory of Oral Disease, West China College of Stomatology, Sichuan University, Chengdu 610041, P R China
    J Dent Res 88:715-8. 2009
    ..Five specific haplotypes showed significant over- and under-transmission. These results further support a role for IRF6 variants in western Chinese populations...
  64. ncbi Oral health-related quality of life in Dutch children with cleft lip and/or palate
    Annemieke Bos
    Department of Orthodontics, Academic Center for Dentistry Amsterdam ACTA, Amsterdam, The Netherlands
    Angle Orthod 81:865-71. 2011
    To investigate the oral health-related quality of life (OH-RQoL) of Dutch cleft lip and palate patients...
  65. ncbi Three-dimensional analysis of facial symmetry in cleft lip and palate patients using optical surface data
    Irene Stauber
    Department of Oral and Maxillofacial Surgery, University of Erlangen Nuremberg, Erlangen, Germany
    J Orofac Orthop 69:268-82. 2008
    Presentation of a new technique to determine the plane of symmetry of a face, and to assess the degree of facial symmetry in patients with unilateral cleft lip and palate based on three-dimensional (3D) optical surface data.
  66. ncbi A genome-wide association study identifies a locus for nonsyndromic cleft lip with or without cleft palate on 8q24
    Struan F A Grant
    Center for Applied Genomics, Abramson Research Center, The Children s Hospital of Philadelphia, Philadelphia, PA 19104 4318, USA
    J Pediatr 155:909-13. 2009
    To identify, in a non-hypothesis manner, novel genetic factors associated with nonsyndromic cleft lip with or without cleft palate (NSCL/P).
  67. ncbi Three-dimensional geometric morphometrics applied to the study of children with cleft lip and/or palate from the North East of England
    I Bugaighis
    School of Dental Science, Newcastle University, Newcastle upon Tyne, UK
    Eur J Orthod 32:514-21. 2010
    ..facial morphological variation among and between 8- and 12-year-old children [40 with a unilateral cleft lip and palate (UCLP), 23 with a unilateral cleft lip and alveolus (UCLA), 19 with a bilateral cleft lip and palate (..
  68. ncbi Identification of germline mutations in the cancer predisposing gene CDH1 in patients with orofacial clefts
    Ingrid P Vogelaar
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen 6500 HB, The Netherlands
    Hum Mol Genet 22:919-26. 2013
    ..This finding opens a new pathway to reveal the molecular basis of non-syndromic OFC. Cancer risk among carriers of these mutations needs to be defined...
  69. pmc Health professionals' assessment of health-related quality of life values for oral clefting by age using a visual analogue scale method
    George L Wehby
    College of Public Health, Department of Health Management and Policy, University of Iowa, Iowa City, Iowa 52242 1181, USA
    Cleft Palate Craniofac J 43:383-91. 2006
    ..To elicit health-related quality of life (HRQL) values associated with oral clefting by age using a visual analogue scale, and to explore the appropriateness of using health professionals as evaluators...
  70. ncbi Association between MSX1 variants and oral clefts in Han Chinese in western China
    Yong qing Huang
    Department of Stomatology, Ningxia Medical University Affiliated Hospital, Ningxia Province, Yinchuan, P R China
    DNA Cell Biol 30:1057-61. 2011
    ..No significant association was found between NSOC and rs3821949 or rs12532 in MSX1 gene, whereas an association was observed between the P147Q variant and cleft lip with cleft palate in the case-control analysis.
  71. ncbi IRF6 mutations in mixed isolated familial clefting
    Katherine D Rutledge
    Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA
    Am J Med Genet A 152:3107-9. 2010
    ..a common syndromic form of oro-facial clefting characterized by the familial occurrence of mixed clefting (cleft lip with or without a cleft palate and cleft palate alone in the same family) and lower lip pits...
  72. pmc Orofacial clefts in the National Birth Defects Prevention Study, 1997-2004
    Alicia E Genisca
    Centers for Disease Control and Prevention, Atlanta, Georgia 30333, USA
    Am J Med Genet A 149:1149-58. 2009
    ..Included in the study were infants born during 1997-2004 with a cleft lip (CL), cleft lip with cleft palate (CLP), or cleft palate (CP)...
  73. ncbi Appreciation of cleft lip and palate treatment outcome by professionals and laypeople
    Despina A Papamanou
    Department of Orthodontics, Dental School, University of Athens, Greece
    Eur J Orthod 34:553-60. 2012
    ..photos (frontal, both laterals, three-quater right and left) of 12 Caucasian patients with treated unilateral cleft lip and palate were presented to 12 adult laypeople, 12 orthodontists, and 12 maxillofacial surgeons...
  74. ncbi Variants of developmental genes (TGFA, TGFB3, and MSX1) and their associations with orofacial clefts: a case-parent triad analysis
    Astanand Jugessur
    Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway
    Genet Epidemiol 24:230-9. 2003
    ..One hundred seventy-four triads of cleft lip cases (CL+/-P) and 88 triads of cleft palate only cases (CPO) were analyzed...
  75. pmc Holoprosencephaly and ectrodactyly: Report of three new patients and review of the literature
    Amelia A Keaton
    University of South Carolina, USA
    Am J Med Genet C Semin Med Genet 154:170-5. 2010
    ..patients has led to the establishment of a at least one distinct syndrome: HPE, ectrodactyly, and bilateral cleft lip-palate syndrome (OMIM 300571)...
  76. ncbi First trimester exposure to corticosteroids and oral clefts
    Pierre Pradat
    Institut Europeen des Genomutations, Lyon, France
    Birth Defects Res A Clin Mol Teratol 67:968-70. 2003
    ..The aim of this study was to test this association by a case-control analysis using the large multicentric MADRE database...
  77. pmc Multiplex relative risk and estimation of the number of loci underlying an inherited disease
    Paul Schliekelman
    Department of Integrative Biology, University of California, Berkeley, USA
    Am J Hum Genet 71:1369-85. 2002
    ..point by showing that the maximum-likelihood estimate for L produced by the method of Farrall and Holder for cleft lip/cleft palate data is not consistent with the prevalence under the multiplicative model...
  78. ncbi SUMO1 polymorphisms are associated with non-syndromic cleft lip with or without cleft palate
    Tao Song
    Department of Oral Maxillofacial Surgery, School of Stomatology, Harbin Medical University, Harbin, China
    Biochem Biophys Res Commun 377:1265-8. 2008
    Small ubiquitin-like modifier 1 (SUMO1) haploinsufficiency results in cleft lip and palate in animal models. However, no studies have linked SUMO1 to non-syndromic cleft lip with or without cleft palate (NSCLP) in humans...
  79. pmc Cancer risk in persons with oral cleft--a population-based study of 8,093 cases
    Camilla Bille
    Center for the Prevention of Congenital Malformations, Institute of Public Health, University of Southern Denmark, Odense, Denmark
    Am J Epidemiol 161:1047-55. 2005
    ..revealed only a few significant associations: an increased occurrence of breast cancer among females born with cleft lip and/or cleft palate (standardized incidence ratio (SIR) = 1.52, 95% CI: 1.05, 2...
  80. ncbi The multidisciplinary evaluation and management of cleft lip and palate
    Nathaniel H Robin
    Department of Genetics, University of Alabama at Birmingham, Birmingham AL 35294, USA
    South Med J 99:1111-20. 2006
    b>Cleft lip with or without a cleft palate (CLP) and cleft palate alone (CPA) are common birth defects, with a combined birth prevalence of about 1 to 2/1,000...
  81. ncbi Infant orthopedics and facial growth in complete unilateral cleft lip and palate until six years of age (Dutchcleft)
    Catharina A M Bongaarts
    Department of Orthodontics and Oral Biology, Radbound University Nijmegen Medical Center, The Netherlands
    Cleft Palate Craniofac J 46:654-63. 2009
    To evaluate longitudinally the effect of infant orthopedics (IO) on dentofacial cephalometric variables in unilateral cleft lip and palate (UCLP) patients from 4 to 6 years of age.
  82. ncbi Early craniofacial morphology and growth in children with bilateral complete cleft lip and palate
    N V Hermann
    Department of Pediatric Dentistry and Clinical Genetics, School of Dentistry, Copenhagen University Hospital, Denmark
    Cleft Palate Craniofac J 41:424-38. 2004
    Analysis of craniofacial morphology and growth in children with bilateral complete cleft lip and palate (BCCLP), compared with a control group with unilateral incomplete cleft lip (UICL), before any treatment as well as 20 months after ..
  83. ncbi Cleft lip and palate in family members of cancer survivors
    E Taioli
    Department of Epidemiology, SUNY Downstate Medical Center, Brooklyn, New York, USA
    Cancer Invest 28:958-62. 2010
    The presence of cleft lip with or without cleft palate (CL/P) in family members of cancer patients was investigated...
  84. ncbi Parent-of-origin effects for MSX1 in a Chilean population with nonsyndromic cleft lip/palate
    José Suazo
    Programa de Genética Humana, Instituto de Ciencias Biomedicas, Facultad de Medicina, Universidad de Chile, Santiago, Chile
    Am J Med Genet A 152:2011-6. 2010
    ..postulated muscle segment homeobox 1 (MSX1) as a strong candidate gene involved in the causation of nonsyndromic cleft lip with or without cleft palate (NSCLP)...
  85. ncbi Quality of life in adults with repaired complete cleft lip and palate
    A Marcusson
    Department of Dentofacial Orthopedics, University Hospital, SE 581 85 Linkoping, Sweden
    Cleft Palate Craniofac J 38:379-85. 2001
    This study evaluated the quality of life in adult Swedish subjects with repaired complete cleft lip and palate (CLP).
  86. ncbi Global oral health inequalities: challenges in the prevention and management of orofacial clefts and potential solutions
    P A Mossey
    University of Dundee Dental Hospital and School, Scotland, UK
    Adv Dent Res 23:247-58. 2011
    ..The future research agenda also requires engagement with implementation science to get research findings into practice...
  87. ncbi Soft tissue profile changes of the midface in patients with cleft lip and palate following maxillary distraction osteogenesis: a preliminary study
    Kiyoshi Harada
    Branch of Oral Surgery, Department of Oral Restitution, Division of Oral Health Sciences, Graduate School, Tokyo Medical and Dental University, Yushima, Japan
    Oral Surg Oral Med Oral Pathol Oral Radiol Endod 94:673-7. 2002
    ..The purpose of this study was to examine preoperative to postoperative changes of soft tissue profiles in the midface of cleft patients who underwent maxillary distraction...
  88. ncbi Rectangular mucosal flap with artificial dermis grafting for vermilion deformity in cleft lips
    S Wakami
    Department of Plastic and Reconstructive Surgery, Graduate School of Medicine, Osaka City University, Asahi 1 4 3, Abeno, Osaka 545 8585, Japan
    J Plast Reconstr Aesthet Surg 63:22-7. 2010
    The treatment of whistling deformity in patients with cleft lip remains controversial. Previous reconstruction methods of whistling deformity have been limited in volume due to the necessity for primary closure of the donor site...
  89. ncbi Dentocraniofacial morphology in parents of children with cleft lip and/or palate
    A Suzuki
    Department of Orthodontics, Faculty of Dentistry, Kyushu University, Fukuoka, Japan
    Cleft Palate Craniofac J 36:131-8. 1999
    The purpose of this study was to compare the dentocraniofacial morphology of parents of children with cleft lip and/or palate (CL/P) with that of parents of children without CL/P and to use the results for genetic counseling.
  90. ncbi Association between genetic variants of reported candidate genes or regions and risk of cleft lip with or without cleft palate in the polish population
    Adrianna Mostowska
    Department of Biochemistry and Molecular Biology, Poznan University of Medical Sciences, Poland
    Birth Defects Res A Clin Mol Teratol 88:538-45. 2010
    b>Cleft lip with or without cleft palate (CL/P) is one of the most common craniofacial malformations, with a complex and multifactorial etiology...
  91. ncbi TP63 gene mutations in Chinese P63 syndrome patients
    W Yin
    Key Laboratory for Oral Biomedical Engineering of the Ministry of Education, Hospital and School of Stomatology, Wuhan University, Luoyu Road 237, Wuhan 430079, P R China
    J Dent Res 89:813-7. 2010
    ..gene for these phenotypes in Chinese, we recruited two Chinese Ectrodactyly-Ectodermal-dysplasia-Cleft lip/palate syndrome (EEC) cases and a Limb-Mammary-Syndrome (LMS) patient to carry out TP63 gene sequencing...
  92. pmc Differential parental transmission of markers in RUNX2 among cleft case-parent trios from four populations
    Jae Woong Sull
    Johns Hopkins Bloomberg School of Public Health, Johns Hopkins University, 615 North Wolfe Street, Baltimore, MD 21205, USA
    Genet Epidemiol 32:505-12. 2008
    Isolated cleft lip with or without cleft palate (CL/P) is among the most common human birth defects, with a prevalence around 1 in 700 live births...
  93. ncbi Cleft lip with cleft palate, ankyloglossia, and hypodontia are associated with TBX22 mutations
    P N Kantaputra
    Department of Orthodontics and Paediatric Dentistry, and Craniofacial Genetics Laboratory, Faculty of Dentistry, Chiang Mai University, Chiang Mai, Thailand
    J Dent Res 90:450-5. 2011
    ..Several individuals in these families were also found to have micro/hypodontia. This study has expanded the phenotypic spectrum of TBX22-related mutations to include dental anomalies and cleft lip.
  94. ncbi MTHFR and MSX1 contribute to the risk of nonsyndromic cleft lip/palate
    Triin Jagomagi
    Department of Stomatology, Faculty of Medicine, University of Tartu, Tartu, Estonia
    Eur J Oral Sci 118:213-20. 2010
    ..The most significant associations with nonsyndromic cleft lip with or without cleft palate (CL/P) were found for SNPs in MSX1, MTHFR, and PVRL2, including several common ..
  95. ncbi Distraction osteogenesis in the management of severe maxillary hypoplasia in cleft lip and palate patients
    Paolo Scolozzi
    Division of Oral and Maxillofacial Surgery, Centre Hospitalier Universitaire Vaudois, Lausanne, Geneva, Switzerland
    J Craniofac Surg 19:1199-214. 2008
    ..We used cleft lip and palate and distraction osteogenesis as key words...
  96. ncbi IRF6 is a risk factor for nonsyndromic cleft lip in the Brazilian population
    Luciano A Brito
    Human Genome Research Center, Department of Genetics, Institute de Biosciences, University of Sao Paulo, Sao Paulo, Brazil
    Am J Med Genet A 158:2170-5. 2012
    Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a complex disorder with a worldwide incidence estimated at 1:700. Among the putative susceptibility loci, the IRF6 gene and a region at 8q24...
  97. ncbi Prevalence of nonsyndromic oral clefts in Texas: 1995-1999
    Syed Shahrukh Hashmi
    University of Texas Health Sciences Center, Houston School of Public Health, Houston, Texas, USA
    Am J Med Genet A 134:368-72. 2005
    Nonsyndromic cleft lip with/without cleft palate (NSCLP) and nonsyndromic cleft palate only (NSCPO) are common complex birth defects affecting 4,000 newborns annually...
  98. ncbi Lip height and lip width after extended Mohler unilateral cleft lip repair
    Court B Cutting
    Institute of Reconstructive Plastic Surgery, New York University Medical Center, New York, NY 10016, USA
    Plast Reconstr Surg 111:17-23; discussion 24-6. 2003
    ..purpose of this study was to evaluate the symmetry in lip height and lip width after extended Mohler unilateral cleft lip repair, with long-term follow-up monitoring...
  99. pmc Cleft lip and palate incidence among the live births in the Republic of Korea
    Sukwha Kim
    Department of Reconstructive Plastic Surgery, College of Medicine, Seoul National University, Seoul, Korea
    J Korean Med Sci 17:49-52. 2002
    We present an epidemiologic study of cleft lip and palate in the Republic of Korea from January 1, 1993 through December 31, 1993. In 1993, the number of total live births was 715,817...
  100. ncbi Transforming growth factor-alpha (TGFA): genomic structure, boundary sequences, and mutation analysis in nonsyndromic cleft lip/palate and cleft palate only
    J Machida
    Department of Pediatrics, University of Iowa, Iowa City, Iowa, 52242, USA
    Genomics 61:237-42. 1999
    Transforming growth factor-alpha (TGFA) has been proposed as a candidate gene in the etiology of nonsyndromic cleft lip with or without cleft palate (NS-CL/P) and of nonsyndromic cleft palate only (NS-CPO)...
  101. pmc The effect of cleft lip on adults' responses to faces: cross-species findings
    Christine E Parsons
    Department of Psychiatry, University of Oxford, Oxford, United Kingdom
    PLoS ONE 6:e25897. 2011
    b>Cleft lip and palate is the most common of the congenital conditions affecting the face and cranial bones and is associated with a raised risk of difficulties in infant-caregiver interaction; the reasons for such difficulties are not ..

Research Grants75

  1. Air Toxics, Neighborhood Environment and Risk of Oral Clefts
    Philip J Lupo; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Over 70% of all birth defects in humans affect the head and face. Cleft lip with or without cleft palate (CL[unreadable]P) is one of the most common of these defects, occurring in approximately 1 per ..
  2. Eph/ephrin signaling in craniofacial development and disease
    JEFFREY OHMANN BUSH; Fiscal Year: 2010
    ..Bush is a postdoctoral fellow who received his Ph.D. at the University of Rochester for work in understanding cleft lip and palate in the spontaneously-occurring Dancer mutant mouse...
  3. Eph/ephrin signaling in craniofacial development and disease
    JEFFREY OHMANN BUSH; Fiscal Year: 2013
    ..Bush is a postdoctoral fellow who received his Ph.D. at the University of Rochester for work in understanding cleft lip and palate in the spontaneously-occurring Dancer mutant mouse...
  4. INTERNATIONAL GENETIC EPIDEMIOLOGY OF ORAL CLEFTS
    Terri H Beaty; Fiscal Year: 2013
    ..we successfully conducted a multi-center, international study on the genetic etiology of oral clefts (including cleft lip, CL;cleft lip and palate, CLP;and cleft palate, CP) by recruiting cases from 5 sites (Maryland, Singapore, ..
  5. Genetic Risk for Orofacial Clefts in the Folate/Homocysteine Pathway
    NICHOLAS MARINI; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Orofacial clefts, specifically cleft lip and cleft palate, are common and costly congenital anomalies whose etiologies remain largely unknown...
  6. MOLECULAR GENETIC EPIDEMIOLOGY OF CLEFT LIP AND PALATE
    Jeffrey C Murray; Fiscal Year: 2013
    ..We hope we have established an environment in which students can explore paths to careers in dental/craniofacial research. ..
  7. Regulation of orofacial ectodermal polarity by the CLP protein, IRF6
    EMILY YIN CHU; Fiscal Year: 2013
    ..by applicant): Interferon regulatory factor 6 (IRF6) variants are associated with common isolated forms of cleft lip with or without clefting of the palate (CLP), as well as with dominantly inherited forms of CLP...
  8. Mechanisms of Neural Crest Differentiation during Craniofacial Development
    Vivian M Lee; Fiscal Year: 2010
    ..Understanding how neural crest cells develop is important because common birth defects such as cleft lip and palate are caused by abnormal development in this cell type.
  9. DGAP: Developmental Genome Anatomy Project
    CYNTHIA CASSON MORTON; Fiscal Year: 2013
    ..These anomalies can include isolated defects ranging from cleft lip/palate, abdominal wall defects, limb defects, cardiac abnormalities or mental retardation, or they can occur as ..
  10. Furlow Palatoplasty with Tensor Tenopexy for Otitis Media
    Joseph E Losee; Fiscal Year: 2013
    ..The surgical procedures will include cleft lip repair (if present) at 3-6 months of age, bilateral placement of a ventilation tube (VT) at 3-6 months of age, ..
  11. Quality of Life in Children with Cleft
    Hillary L Broder; Fiscal Year: 2013
    ..This project will enroll children (ages 8-17) with cleft palate only (CPO) and cleft lip and palate and their caregivers who are evaluated at five renown craniofacial centers (two in the southeast and ..
  12. Leica LMD 7000 Laser Capture Microdissection Microscope
    Siegfried Janz; Fiscal Year: 2013
    ..recombination rates along individual chromosomes;Jeffery Murray and Martine Dunnwald perform genetic studies on cleft lip and palate formation;David Stolz and Aliye Uc examine organ damage in a newly developed pig model of human ..
  13. The role of MID1/MID2 in regulating epithelial adhesion
    CATHERINE KOTO; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Cleft lip with or without cleft plate (CLP) is a common birth defect with multifactorial etiologies...
  14. MicroRNAs in cleft lip and palate
    JAMES FRANCIS MARTIN; Fiscal Year: 2013
    ..Our preliminary data indicate that miR17-92 mutant embryos have severe craniofacial phenotypes, including cleft lip and palate (CL/P) and mandibular hypoplasia, consistent with the hypothesis that miR17-92 is a Bmp-target in ..
  15. Molecular characterization of novel loci for orofacial clefting using canine mode
    Danika L Bannasch; Fiscal Year: 2013
    ..They can occur as isolated cases of cleft palate (CPO), or cleft lip with or without cleft palate (CL/P), or in combination with other birth defects...
  16. Growth Factor Signaling in Mouse Palatogensis
    YiPing Chen; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Non-syndromic cleft lip and cleft palate, one of the major groups of congenital birth defects in human beings...
  17. A role for the methyltransferase NSD3 in neural crest specification and migration
    Bridget T Jacques-Fricke; Fiscal Year: 2013
    ..Common birth defects such as cleft lip and palate result from abnormalities in neural crest cell development...
  18. Role of actin cytoskeleton regulators in craniofacial development and disease
    Shuyi Nie; Fiscal Year: 2013
    ..Defects in their proliferation, migration, or survival lead to numerous diseases and birth defects, including cleft lip/palate, Treacher-Collins syndrome, and DiGeorge syndrome...
  19. Epigenetic Regulation in Cranial Neural Crest Development
    Na Hu; Fiscal Year: 2012
    ..Abnormal neural crest development can lead to a variety of birth defects such as craniofacial defects like cleft lip and palate, heart septation defects, and agangliogenesis of the colon...
  20. Genetic Characterization of a Novel Model of Cleft Palate
    Stephen A Murray; Fiscal Year: 2010
    ..Although an increasing number of genes have been linked to cleft lip and cleft palate, the mechanisms governing orofacial malformations remain unclear...
  21. Genetic and Morphometric Analysis of Facial Clefts
    REBECCA MICHELLE GREEN; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Cleft lip (CL) or Cleft lip/palate (CL/P) occurs in about 1 in 700 live births, and while they are treatable, many individuals with these types of deformities will require lifelong care...
  22. Transcriptional Targets of PDGF Signaling during Craniofacial Development
    Harish Vasudevan; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Craniofacial defects, such as cleft lip and/or palate, are the most prevalent congenital malformations worldwide...
  23. Oral Clefts: Moving from Genome Wide Studies Toward Functional Genomics
    Terri H Beaty; Fiscal Year: 2013
    ..PUBLIC HEALTH RELEVANCE: This project is designed to follow up evidence from a genome wide study of oral clefts (cleft lip, cleft palate &cleft lip and palate) in a large international study of humans by sequencing specific genes ..
  24. Caregiver Responses to Nasoalveolar Molding and Early Cleft Care
    Hillary L Broder; Fiscal Year: 2013
    ..controversial, pre-surgical treatment aimed at improving cosmetic and functional outcomes among children with cleft lip and palate (CLP) through early intervention at about one month of age...
  25. Characterizing the mechanisms of PDGFRalpha regulation in upper lip development
    Fenglei He; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Cleft lip is one of most common birth defects. Caused by disruption of normal craniofacial development, cleft lip affects approximately 1 in 500 newborns worldwide...
  26. Molecular Interactions During Neural Crest Formation
    MARTIN IGNACIO GARCIA-CASTRO; Fiscal Year: 2013
    ..in neural crest development and homeostasis result in human pathologies or "neurocristopathies" that include cleft lip/palate, Waardenburg syndrome, and melanoma, amongst others...
  27. Extending the Phenotype of Nonsyndromic Orofacial Clefts
    Mary L Marazita; Fiscal Year: 2012
    Abstract Orofacial clefts (OFCs), particularly nonsyndromic cleft lip with or without cleft palate (NS CL/P) are a major public health problem, affecting one in every 500-1000 births worldwide...
  28. Super-resolution Reconstruction of Fetal Craniofacial MRI
    ALI GHOLIPOUR-BABOLI; Fiscal Year: 2012
    ..Nevertheless the diagnostic accuracy of sonography for complex craniofacial diseases such as cleft lip and cleft palate, hemifacial microsomia, micrognathia, etc. is extremely low...
  29. Characterizing early neural crest phosphoregulation using antiphosphatase targets
    Laura S Gammill; Fiscal Year: 2013
    ..MYH9 is phosphorylated, regulates cell motility (including metastasis), and associates with non-syndromic cleft lip and palate. However, MYH9 has not been characterized in the neural crest...
  30. Sleep and Neurobehavioral Performance After Cleft Palate Repair
    LOUISE M O apos BRIEN; Fiscal Year: 2010
    ..In addition, 40 children of similar ages with previous repair of cleft lip only, excision of a mucocele, or a frenulectomy will be recruited to serve as controls...
  31. The role of prdm1 in neural cell fate specification
    Kristin Bruk Artinger; Fiscal Year: 2010
    ..the genetic pathways that are important for neural tube and crest development, which in turn will be an important step in preventative measures in human congenital defects, such as spinal bifida and cleft lip and palate.
  32. Chromatin remodeling in multipotent neural crest formation and CHARGE syndrome
    Joanna Wysocka; Fiscal Year: 2013
    ..can confer susceptibility to some of the most common birth defects, such as craniofacial dysmorphisms including cleft lip and/or palate, heart malformations and peripheral nervous system defects...
  33. Methyl Donor Pathway Genetics in the Development of Orofacial Clefts
    JASPER D RINE; Fiscal Year: 2010
    ..Orofacial clefts, specifically cleft lip and cleft palate, are common and costly congenital anomalies whose etiologies remain largely unknown...
  34. Skin Regeneration: Cellular &Molecular Mechanisms
    HERMANN PETER LORENZ; Fiscal Year: 2012
    Project Summary / Abstract Cleft lip and palate is a major health problem because of the functional defect produced. Furthermore, surgical reconstruction results in lip and palate scarring, which inhibits facial growth and oral function...
  35. Role of Interferon Regulatory Factor 6 (Irf6) in cutaneous wound healing
    Martine Dunnwald; Fiscal Year: 2010
    ..in IRF6, are more likely to have a worse outcome following surgical repair of cleft than individuals with cleft lip or palate (and have two non-mutated copies of IRF6)...
  36. Discovering Human Birth Defect Genes from Chromosomal Rearrangements
    Richard L Maas; Fiscal Year: 2013
    ..We will focus on birth defects involving the craniofacial region (e.g., cleft lip and palate), the eye (e.g., congenital cataracts), and the kidney (e.g., vesicoureteral reflux, or VUR)...
  37. Mapping nonsyndromic cleft lip and palate genetic loci
    Jacqueline T Hecht; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Nonsyndromic cleft lip with or without cleft palate (NSCLP) is a common complex orofacial birth defect associated with significant morbidity and increased mortality...
  38. The role of Nectins in fusion of the midface and genesis of cleft lip and palate.
    TIMOTHY CHILTON COX; Fiscal Year: 2012
    b>Cleft lip and palate (CLP) is one of the most common congenital malformations in humans...
  39. Idenfication of miRNAs involved midfacial development and clefting
    JOHN HARVEY POSTLETHWAIT; Fiscal Year: 2013
    ..In humans, defects in mid-facial development, including cleft lip/palate, account for the largest number of birth defects annually...
  40. Oral cleft prevention program
    Jeffrey C Murray; Fiscal Year: 2010
    ..CLP is the most prevalent birth defect in the United States, with about 6,800 new cases which includes cleft lip and/or palate, isolated and non-isolated born each year...
  41. The Role of IRF6 During Craniofacial Development
    Steven L Goudy; Fiscal Year: 2012
    Isolated cleft lip and palate is a common congenital problem with a complex etiology. The objective of this research is to identify the function of genes critical to palatal formation...
  42. Imaging and mechanistic analyses of face-brain dysmorphology in a CLP model
    Robert Lipinski; Fiscal Year: 2012
    ..analyses to examine the cause, extent, and co- occurrence of face and brain abnormalities in a mouse model of cleft lip and palate...
  43. Wnt Signaling in Craniofacial Developmental Disorders
    Chengji Zhou; Fiscal Year: 2013
    ..Congenital craniofacial defects, particularly the cleft lip with or without cleft palate (CLP), are among the most common birth defects in humans...
  44. Nonmuscle myosins in craniofacial morphogenesis and orofacial clefting
    JEFFREY OHMANN BUSH; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Cleft lip and palate are extremely common congenital anomalies that have devastating consequences for affected individuals and their families...
  45. An Exploratory Model of Early Speech Intervention for Children with Cleft Palate
    Nancy J Scherer; Fiscal Year: 2010
    Young children with cleft lip and/or palate are at risk for speech and language delays associated with structural deficits despite early surgical repair...
  46. Multigenic Dissection of Nonsyndromic Oral Clefts
    Rachel L Badovinac; Fiscal Year: 2010
    ..Relevance: Cleft lip and/or cleft palate are among the most common birth defects have serious physical, psychological, and financial ..
  47. Sequencing of significant signals from cleft lip GWAS
    Jeffrey C Murray; Fiscal Year: 2010
    ..This project will take advantage of a very large GWAS on cleft lip and palate that includes parental samples that provide unique opportunities for detection of causal mutations ..
  48. Assessing delivery of an early speech intervention for children with clefts in Br
    Nancy J Scherer; Fiscal Year: 2013
    ..by investigator): This study proposes to evaluate the effectiveness of an early intervention for children with cleft lip and palate to facilitate speech and vocabulary development and prevent the habituation of compensatory ..
  49. Genetic instrumental variable studies of maternal risk behaviors for oral clefts
    George L Wehby; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Cleft lip and/or palate (CL/P) are common and burdensome birth defects with a complex etiology of genetic, behavioral and environmental contributors...
  50. Matrix Metalloproteinase Gene Variants and Cleft Lip and Palate
    ARIADNE M LETRA; Fiscal Year: 2012
    ..The experimental focus of this proposal is on MMP gene variants and cleft lip with or without cleft palate (CL/P)...
  51. Genetic Determinants of Orofacial Shape and Relationship to Cleft Lip/Palate
    RICHARD ANDREW SPRITZ; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Orofacial clefts, principally cleft lip (CL), cleft palate (CP), and cleft lip and palate (CLP), are among the most common major birth defects, occurring in ~1/700 to 1/1000 live births in various ..
  52. Academic achievement of children and adolescents with oral clefts
    George L Wehby; Fiscal Year: 2012
    DESCRIPTION (provided by applicant): Cleft lip and/or palate (CL-P) are common birth defects occurring in about 1/500 to 1/2500 births...
  53. Timing of Primary Surgery for Cleft Palate
    WILLIAM CHRISTIE SHAW; Fiscal Year: 2012
    ..of cleft centers who recently completed enrollment of 925 infants into large scale trials of unilateral cleft lip and palate sponsored by the European Commission and NIDCR: the Scandcleft Network (10 surgical sites serving all ..
  54. Dynamic facial soft tissue analysis system
    CARROLL ANN TROTMAN; Fiscal Year: 2010
    ..with dynamic objective measures used to examine the effects of surgery on circumoral function in patients with cleft lip and palate. 3dMD and Dr...
  55. The Brain Morphology of Children with Cleft Lip and/or Palate
    MADELEINE BLAIR CHOLLET; Fiscal Year: 2010
    DESCRIPTION (provided by applicant): Cleft lip and/or palate (CL/P) is a congenital anomaly that is characterized by improper fusion of the upper lip and/or palate...
  56. Characterization of NSCLP gene CRISPLD2
    BRETT THOMAS CHIQUET; Fiscal Year: 2010
    Nonsyndromic cleft lip with or without cleft palate (NSCLP) is a common complex birth disorder that affects 1/700 live births, with 4000 cases each year in the United States...
  57. Functional Outcomes of Cleft Lip Surgery
    CARROLL ANN TROTMAN; Fiscal Year: 2011
    ..United States each year with an estimated 80% affected with a non-syndromic, sporadic unilateral or bilateral cleft lip and/or palate...
  58. Dynamic facial soft tissue analysis system.
    CARROLL ANN TROTMAN; Fiscal Year: 2013
    ..due to an ongoing NIDCR clinical trial to examine the effects of surgery on circumoral function in patients with cleft lip and palate (CL/P). 3dMD and Dr...
  59. MultiProng Screening Strategy for Gene Discovery in Nonsyndromic Cleft Lip Palate
    DALE JAMES contact HEDGES; Fiscal Year: 2011
    Nonsyndromic Cleft Lip/Palate (NSCLP) is a complex genetic disorder caused by both genetic and environmental factors...
  60. Genetic Basis of Cleft Lip and Palate
    Rulang Jiang; Fiscal Year: 2012
    ..Orofacial clefts, including cleft lip and cleft palate, are common birth defects that affect approximately 1 in 700 live births worldwide...
  61. FaceBase Management and Coordination Hub
    Jeffrey C Murray; Fiscal Year: 2013
    ..It will focus on integrating data from diverse sources and models, and to foster translational research in cleft lip and palate...
  62. PREVENTION OF X-RAY INDUCED MALFORMATIONS
    MARVIN SODICOFF; Fiscal Year: 1990
    ..g., shape, shortening of the mandible and maxilla, cleft lip, palate, and face with defects of eye and ear development. Gross malformations of the CNS e.g...
  63. CLEFT LIP AND PALATE IN LOS ANGELES HISPANICS
    M Spence; Fiscal Year: 1990
    ..by determining if referral bias or some other irrelevant factor accounts for the increases frequency of cleft lip with cleft palate in our sample. The sex ratio and bilateral vs...
  64. Health outcomes and improved phenotypic characterization of cleft lip and palate
    GEORGE WEHBY; Fiscal Year: 2009
    DESCRIPTION (provided by applicant): Cleft lip and/or palate (CLP) is a common birth defect occurring in about 1/500 to 1/2500 births...
  65. Effects of Dioxin on Vietnamese Civilians
    David Carpenter; Fiscal Year: 2004
    ..These hospitals serve maternity patients from all of southern Vietnam. The investigators will study cases of a) cleft lip/cleft palate, b) neural tube defects, including spina bifida, anecephaly and microcephaly, and c) limb ..
  66. Speech Intelligibility Testing in Children with Repaired Cleft Palate
    David Zajac; Fiscal Year: 2007
    ..underlie speech intelligibility in young children with repaired clefts of the secondary palate with or without cleft lip (Aim 1)...
  67. WOUND HEALING AFTER FETAL CLEFT LIP REPAIR
    Leonard Kaban; Fiscal Year: 1990
    Although excellent esthetic and functional results can be achieved with post-natal cleft lip and palate repair, consecutive surgical procedures lead to scar formation and secondary midface growth retardation...
  68. Eustachian Tube Form/Function in Cleft Lip and Palate
    Anil Gungor; Fiscal Year: 2004
    ..If these predictions are valid, an early MRI study of CP infants be prognostic of the severity and longevity of ME disease and may serve to guide the type of palatal reconstruction for individual patients. ..
  69. VELOPHARYNGEAL FUNCTION FOR SPEECH AFTER PALATAL SURGERY
    William Williams; Fiscal Year: 2004
    The incidence of cleft lip/palate is 1/750, making it one of the most common congenital malformations...
  70. Gene-enviornment interactions in facial clefts
    Kaare Christensen; Fiscal Year: 2006
    ..Family and twin studies have clearly indicated a genetic role in the etiology of cleft lip and palate, but environmental components play a major role, as well...
  71. ORAL-FACIAL CLEFTS IN CHINA
    Michael Melnick; Fiscal Year: 1990
    b>Cleft lip with or without cleft palate (CL+-P) is a major health problem, afflicting 1 in every 500-1000 newborn babies world wide; the etiology remains unclear. For CL+-P, Orientals are at higher risk than Caucasians or Blacks...
  72. IDENTICAL BY DESCENT MAPPING OF CRANIOFACIAL ANOMALIES
    Andrew Lidral; Fiscal Year: 1999
    ..Most orofacial clefts are non-syndromic, isolated defects, which can be separated into two different phenotypes: cleft lip with or without cleft palate (CL/P) and cleft palate only (CPO)...
  73. HOMOZYGOSITY MAPPING OF ORAL-FACIAL CLEFTS IN TURKEY
    Mary Marazita; Fiscal Year: 2000
    Oral-facial clefts, particularly cleft lip with or without cleft palate (CL/P) are a major public health problem, affecting one in every 500-1000 births worldwide...
  74. MOLECULAR GENETIC EPIDEMIOLOGY OF CLEFT LIP AND PALATE
    Jeffrey Murray; Fiscal Year: 2003
    ..Finally, using an affected pedigree member approach, we have mapped a locus for non-syndromic cleft lip and palate to 6p23...
  75. INTERNATIONAL GENETIC EPIDEMIOLOGY OF ORAL CLEFTS
    Terri Beaty; Fiscal Year: 2001
    Oral clefts (including cleft lip, CL; cleft palate, CP; and cleft lip and palate, CLP) represent a complex and heterogeneous group of crainofacial defects that constitute a major public health burden due to their high prevalence...