facies

Summary

Summary: The appearance of the face that is often characteristic of a disease or pathological condition, as the elfin facies of WILLIAMS SYNDROME or the mongoloid facies of DOWN SYNDROME. (Random House Unabridged Dictionary, 2d ed)

Top Publications

  1. ncbi The acrofacial dysostoses--a wide spectrum of overlapping phenotypes
    B Dimitrov
    Genet Couns 16:181-6. 2005
  2. ncbi Mowat-Wilson syndrome affecting 3 siblings
    Motoko Ohtsuka
    Department of Pediatrics, Tokyo Women s Medical University, 8 1 Kawada cho, Shinjuku ku, Tokyo
    J Child Neurol 23:274-8. 2008
  3. ncbi Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures
    Gaelle Thierry
    CHU Nantes, Service de Genetique Medicale, Nantes, France
    Am J Med Genet A 158:1633-40. 2012
  4. pmc Cardio-facio-cutaneous syndrome: does genotype predict phenotype?
    Judith E Allanson
    Department of Genetics at Children s Hospital of Eastern Ontario
    Am J Med Genet C Semin Med Genet 157:129-35. 2011
  5. ncbi Pitt-Hopkins syndrome-associated mutations in TCF4 lead to variable impairment of the transcription factor function ranging from hypomorphic to dominant-negative effects
    Mari Sepp
    Department of Gene Technology, Tallinn University of Technology, Akadeemia tee 15, Tallinn, Estonia
    Hum Mol Genet 21:2873-88. 2012
  6. pmc Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome
    Lina Basel-Vanagaite
    Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Campus, Petah Tikva 49100, Israel
    Am J Hum Genet 91:998-1010. 2012
  7. pmc Identification of the DNA repair defects in a case of Dubowitz syndrome
    Jingyin Yue
    The Cancer Institute of New Jersey, Robert Wood Johnson Medical School, New Brunswick, New Jersey, United States of America
    PLoS ONE 8:e54389. 2013
  8. pmc Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height
    Katrina Tatton-Brown
    Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, UK
    Oncotarget 2:1127-33. 2011
  9. ncbi Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome
    Jeroen K J Van Houdt
    Center for Human Genetics, Catholic University Leuven, University Hospital Gasthuisberg, Leuven, Belgium
    Nat Genet 44:445-9, S1. 2012
  10. ncbi Transcription factor 4 and myocyte enhancer factor 2C mutations are not common causes of Rett syndrome
    Roksana Armani
    NSW Centre for Rett Syndrome Research, Kids Research Institute, The Children s Hospital at Westmead, Sydney, NSW, Australia
    Am J Med Genet A 158:713-9. 2012

Research Grants

  1. Identify genes causing Kabuki Syndrome
    JEFFREY MILUNSKY; Fiscal Year: 2006
  2. IDENTIFICATION OF IMPRINTED GENES ON CHROMOSOME 14
    Lisa Shaffer; Fiscal Year: 2001
  3. GENETIC BASIS OF THE ALAGILLE SYNDROME
    Elizabeth Rand; Fiscal Year: 1999
  4. THE ROLE OF UFD1 AND CDC45 IN NEURAL CREST DEVELOPMENT
    Vidu Garg; Fiscal Year: 2004
  5. GENETIC & ENVIRONMENTAL DETERMINANTS OF CRANIOFACIAL DIS
    Brendan Lee; Fiscal Year: 2005
  6. GENE DISCOVERY FOR CRANIOFACIAL DISORDERS
    Richard Spritz; Fiscal Year: 2007
  7. MOLECULAR GENETICS OF FACIO AUDIO SYMPHALANGISM
    Deborah Krakow; Fiscal Year: 1999
  8. Identify Waardenburg syndrome type 2 loci in man
    JEFFREY MILUNSKY; Fiscal Year: 2005
  9. MRI/S in Children with Prenatal Alcoholic Exposure
    Susan Astley; Fiscal Year: 2004
  10. GENETICS OF PARKINSON DISEASE IN THE AMISH
    Brad Racette; Fiscal Year: 2006

Detail Information

Publications253 found, 100 shown here

  1. ncbi The acrofacial dysostoses--a wide spectrum of overlapping phenotypes
    B Dimitrov
    Genet Couns 16:181-6. 2005
  2. ncbi Mowat-Wilson syndrome affecting 3 siblings
    Motoko Ohtsuka
    Department of Pediatrics, Tokyo Women s Medical University, 8 1 Kawada cho, Shinjuku ku, Tokyo
    J Child Neurol 23:274-8. 2008
    ..Because Mowat-Wilson syndrome has been caused by de novo mutation in ZFHX1B, germ-line mosaicism should be considered if recurrence in siblings is observed...
  3. ncbi Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures
    Gaelle Thierry
    CHU Nantes, Service de Genetique Medicale, Nantes, France
    Am J Med Genet A 158:1633-40. 2012
    ..These results suggest that HNRNPU, FAM36A, and NCRNA00201 are not major genes for microcephaly and corpus callosum abnormalities but are good candidates for ID and seizures...
  4. pmc Cardio-facio-cutaneous syndrome: does genotype predict phenotype?
    Judith E Allanson
    Department of Genetics at Children s Hospital of Eastern Ontario
    Am J Med Genet C Semin Med Genet 157:129-35. 2011
    ..Pulmonary stenosis is the only anomaly that demonstrates a statistically significant genotype–phenotype correlation, being more common in individuals with a BRAF mutation...
  5. ncbi Pitt-Hopkins syndrome-associated mutations in TCF4 lead to variable impairment of the transcription factor function ranging from hypomorphic to dominant-negative effects
    Mari Sepp
    Department of Gene Technology, Tallinn University of Technology, Akadeemia tee 15, Tallinn, Estonia
    Hum Mol Genet 21:2873-88. 2012
    ..We conclude that different PTHS-associated mutations impair the functions of TCF4 by diverse mechanisms and to a varying extent, possibly contributing to the phenotypic variability of PTHS patients...
  6. pmc Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome
    Lina Basel-Vanagaite
    Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Campus, Petah Tikva 49100, Israel
    Am J Hum Genet 91:998-1010. 2012
    ..Our data reveal the pleiotropic effects of UBE3B deficiency and reinforce the physiological importance of ubiquitination in neuronal development and function in mammals...
  7. pmc Identification of the DNA repair defects in a case of Dubowitz syndrome
    Jingyin Yue
    The Cancer Institute of New Jersey, Robert Wood Johnson Medical School, New Brunswick, New Jersey, United States of America
    PLoS ONE 8:e54389. 2013
    ..These data suggests that at least subset of Dubowitz syndrome can be attributed to DNA ligase IV mutations...
  8. pmc Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height
    Katrina Tatton-Brown
    Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, UK
    Oncotarget 2:1127-33. 2011
    ..Our data establish EZH2 mutations as the cause of Weaver syndrome and provide further links between histone modifications and regulation of human growth...
  9. ncbi Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome
    Jeroen K J Van Houdt
    Center for Human Genetics, Catholic University Leuven, University Hospital Gasthuisberg, Leuven, Belgium
    Nat Genet 44:445-9, S1. 2012
    ..These alterations likely do not impair SWI/SNF complex assembly but may be associated with disrupted ATPase activity. The identification of SMARCA2 mutations in humans provides insight into the function of the Snf2 helicase family...
  10. ncbi Transcription factor 4 and myocyte enhancer factor 2C mutations are not common causes of Rett syndrome
    Roksana Armani
    NSW Centre for Rett Syndrome Research, Kids Research Institute, The Children s Hospital at Westmead, Sydney, NSW, Australia
    Am J Med Genet A 158:713-9. 2012
    ....
  11. ncbi Development, cognition, and behaviour in Pitt-Hopkins syndrome
    Ingrid D C van Balkom
    Jonx Department of Youth Mental Health, Lentis Psychiatric Institute, Zuidlaren, The Netherlands
    Dev Med Child Neurol 54:925-31. 2012
    ..The aim of the study was to collect detailed data on behavioural, adaptive, and psychological functioning in 10 individuals with Pitt-Hopkins syndrome (PTHS), with specific attention to manifestations of autism spectrum disorder (ASD)...
  12. ncbi Facial features in Alagille syndrome: specific or cholestasis facies?
    Binita M Kamath
    Division of Gastroenterology and Nutrition, The Children s Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Am J Med Genet 112:163-70. 2002
    ..both within and between families, the possibility has been raised that cholestasis is the causative factor for the facies. In this study, the diagnostic specificity of the facies in Alagille syndrome has been evaluated by asking ..
  13. pmc Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome
    Jill Clayton-Smith
    Genetic Medicine, St Mary s Hospital, Manchester Academic Health Sciences Centre, School of Biomedicine, University of Manchester, Manchester M13 9WL, UK
    Am J Hum Genet 89:675-81. 2011
    ..This is a further example of how perturbation of a protein involved in chromatin modification might give rise to a multisystem developmental disorder...
  14. ncbi Functional analysis of TCF4 missense mutations that cause Pitt-Hopkins syndrome
    Marc Forrest
    Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff, UK
    Hum Mutat 33:1676-86. 2012
    ....
  15. ncbi Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome
    A L Schulz
    Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Hamburg, Germany
    Clin Genet 73:62-70. 2008
    ....
  16. ncbi Neurologic and ocular phenotype in Pitt-Hopkins syndrome and a zebrafish model
    Antje Brockschmidt
    Institute of Human Genetics, Rheinische Friedrich Wilhelms University, Sigmund Freud Str 25, 53105 Bonn, Germany
    Hum Genet 130:645-55. 2011
    ..We provide evidence for a role of TCF4/E2-2 in ocular growth control in PTHS-patients and the zebrafish model...
  17. pmc Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations
    Katrina Tatton-Brown
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, United Kingdom
    Am J Hum Genet 77:193-204. 2005
    ..005) to carry missense mutations, suggesting that the underlying NSD1 mutational mechanism in Sotos syndrome may influence reproductive fitness...
  18. pmc The cardiofaciocutaneous syndrome
    A Roberts
    Harvard Medical School, Partners HealthCare System, Center for Genetics and Genomics, Boston, Massachusetts, USA
    J Med Genet 43:833-42. 2006
    ..The protein products of these genes also belong to the RAS-ERK pathway. Thus, the clinical overlap of these three conditions, which often poses a problem of differential diagnosis, is explained by their pathogenetic relatedness...
  19. ncbi Orthopaedic conditions in Ras/MAPK related disorders
    Kent A Reinker
    Department of Orthopaedics, University of Texas Health Sciences Center, San Antonio, TX, USA
    J Pediatr Orthop 31:599-605. 2011
    ..Their orthopaedic manifestations are not well defined, and their phenotypic similarity makes differentiating them difficult...
  20. pmc Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1
    Anne Gregor
    Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
    BMC Med Genet 12:106. 2011
    ..Recently, homozygous or compound heterozygous defects in either gene were reported as causative for severe intellectual disability...
  21. ncbi A cryptic microdeletion including MBD5 occurring within the breakpoint of a reciprocal translocation between chromosomes 2 and 5 in a patient with developmental delay and obesity
    Minobu Shichiji
    Department of Pediatrics, Tokyo Women s Medical University, Tokyo, Japan
    Am J Med Genet A 161:850-5. 2013
    ..1 deletion syndrome. For better medical management, appropriate dietary guidance against hyperphagia should be given to the patients' family...
  22. ncbi Ehlers-Danlos syndrome type VIB with characteristic facies, decreased curvatures of the spinal column, and joint contractures in two unrelated girls
    Tomoki Kosho
    Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan
    Am J Med Genet A 138:282-7. 2005
    ..girls, aged 11 and 14 years, with clinical manifestations of Ehlers-Danlos syndrome (EDS) type VIB, characteristic facies, skeletal abnormalities, and other features are described...
  23. ncbi Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum
    Sandra Whalen
    AP HP, Groupe Hospitalier Pitie Salpetriere, Unité fonctionnelle de génétique clinique, Département de génétique et cytogénétique, centre de référence maladies rares, Déficiences Intellectuelles de causes rares, Paris, France
    Hum Mutat 33:64-72. 2012
    ..In this study, we have summarized the current knowledge of TCF4 molecular pathology, reported all the mutations in the TCF4 database (http://www.LOVD.nl/TCF4), and present a novel and comprehensive diagnostic strategy for PTHS...
  24. ncbi Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome
    C V M Steinbusch
    Department of Clinical Genetics, Maastricht UMC, The Netherlands
    Clin Genet 83:73-7. 2013
    ..We suggest careful studies in parents of other patients with PTHS to determine the frequency of germline and somatic mosaicism for TCF4 mutations...
  25. ncbi Esophagus cancer and IgA deficiency in a patient with Dubowitz syndrome: a case report
    Ibrahim Halil Turkbeyler
    Gaziantep University Faculty of Medicine, Department of Internal Medicine, Gaziantep, Turkey
    Tokai J Exp Clin Med 36:29-30. 2011
    ..However, Esophagus cancer has not been reported among the malignant tumors. Herein, we reported a patient with Dubowitz syndrome, IgA deficiency and Esophagus cancer...
  26. pmc The role of the TCF4 gene in the phenotype of individuals with 18q segmental deletions
    Minire Hasi
    Department of Pediatrics, UT Health Science Center, 7703 Floyd Curl Dive, San Antonio, TX 78229, USA
    Hum Genet 130:777-87. 2011
    ....
  27. ncbi Pitt-Hopkins syndrome in a boy with Charcot Marie Tooth disease type 1A: a rare co-occurrence of 2 genetic disorders
    Partha S Ghosh
    Center for Pediatric Neurology, Cleveland Clinic, Cleveland, OH 44195, USA
    J Child Neurol 27:1602-6. 2012
    ..This case demonstrates the rare co-occurrence of 2 genetic disorders in the same individual...
  28. ncbi Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome
    Karen W Gripp
    Division of Medical Genetics, A I duPont Hospital for Children Nemours Childrens Clinic, Wilmington, DE 19899, USA
    Am J Med Genet A 143:1472-80. 2007
    ..Based on these clinical differences we suggest that patients with BRAF and MEK mutations should be diagnosed with CFC syndrome, and the diagnosis of Costello syndrome be reserved for patients with HRAS mutations...
  29. ncbi A review of 35 cases of asymmetric crying facies
    H Caksen
    Department of Pediatrics, Yuzuncu Yil University, Faculty of Medicine, Van, Turkey
    Genet Couns 15:159-65. 2004
    A review of 35 cases of asymmetric crying facies: Congenital asymmetric crying facies (ACF) is caused by congenital hypoplasia or agenesis of the depressor anguli oris muscle (DAOM) on one side of the mouth...
  30. ncbi Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome
    Giuseppe Marangi
    Istituto di Genetica Medica, Universita Cattolica del Sacro Cuore, Roma, Italy
    Am J Med Genet A 158:1604-11. 2012
    ..This scoring system is also proposed for a clinically based diagnosis of PTHS in absence of a proven TCF4 mutation...
  31. ncbi Fetal pads as a clue to the diagnosis of Pitt-Hopkins syndrome
    Daphne Lehalle
    Manchester Biomedical Research Centre, MAHSC, St Mary s Hospital, UK
    Am J Med Genet A 155:1685-9. 2011
    ....
  32. ncbi Mosaic microdeletion 18q21 as a cause of mental retardation
    Dimitri J Stavropoulos
    Department of Pediatric Laboratory Medicine, Hospital for Sick Children, Toronto, Ontario, Canada
    Eur J Med Genet 53:396-9. 2010
    ....
  33. ncbi The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria
    Giuseppe Marangi
    Istituto di Genetica Medica, Universita Cattolica del Sacro Cuore, Roma, Italy
    Am J Med Genet A 155:1536-45. 2011
    ..Based on striking clinical criteria, a diagnosis of PTHS was made clinically in two patients who had normal TCF4. This report deals with the first series of PTHS patients of Italian origin...
  34. ncbi Associated anomalies in asymmetric crying facies and 22q11 deletion
    M Akcakus
    Department of Pediatrics, Division of Neonatology, Erciyes University, Faculty of Medicine, Kayseri, Turkey
    Genet Couns 14:325-30. 2003
    Congenital asymmetric crying facies, a minor congenital anomaly due to unilateral absence or hypoplasia of the depressor anguli oris muscle, is associated at times with major congenital anomalies...
  35. ncbi Co-existence of Dubowitz and hyper-IgE syndromes: a case report
    K Antoniades
    Oral and Maxillofacial Surgery Department, Aristotle University of Thessaloniki, Greece
    Eur J Pediatr 155:390-2. 1996
    ..The co-existence of these two syndromes is rare and we suggest that this is the first such case in the literature...
  36. ncbi A de novo deletion of chromosome 15(q15.2q21.2) in a dysmorphic, mentally retarded child with congenital scalp defect
    P A Koivisto
    Department of Clinical Genetics, Tampere University Hospital, Finland
    Clin Dysmorphol 8:139-41. 1999
    ..2q21.2) by high resolution banding. Consequently, prometaphase analysis is warranted in some cases when conventional karyotype analysis appears normal...
  37. ncbi 22q11.2 deletion syndrome: DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes
    B F Cuneo
    Heart Institute for Children, Department of Pediatrics, Hope Children s Hospital, University of Illinois at Chicago, Chicago, Illinois 60045, USA
    Curr Opin Pediatr 13:465-72. 2001
    ..Classic features are dysmorphic facies, conotruncal cardiac defects, hypocalcemic hypoparathyroidism, T-cell mediated immune deficiency, and palate ..
  38. ncbi Asymmetric crying facies associated with congenital hypoparathyroidism and 22q11 deletion
    Mustafa Akcakus
    Department of Pediatrics, Erciyes University, Faculty of Medicine, Kayseri, Turkey
    Turk J Pediatr 46:191-3. 2004
    Asymmetric crying facies is caused by congenital hypoplasia or agenesis of the depressor anguli oris muscle...
  39. ncbi Cutaneous sarcoidosis presenting as leonine facies
    Christina G Kendrick
    Department of Dermatology, Louisiana State University Health Sciences Center, 1542 Tulane Ave, Room 634, New Orleans, LA 70112, USA
    Cutis 73:57-62. 2004
    ..A thorough systemic workup was void of other comorbidities. The reports of tumoral sarcoidosis or sarcoidosis presenting with leonine facies are rare, and those cases that have been reported have been linked to other systemic findings.
  40. ncbi Systemic mastocytosis-associated leonine facies and eyebrow loss
    Hubert M Chodkiewicz
    University of Texas Houston Medical School, The University of Houston Health Center, Houston, TX, USA
    South Med J 104:236-8. 2011
    Leonine facies or loss of eyebrows, or both, occurring concurrently or in succession, can be associated with numerous etiologies...
  41. pmc Constitutive activation of B-Raf in the mouse germ line provides a model for human cardio-facio-cutaneous syndrome
    Jelena Urosevic
    Molecular Oncology Program, Centro Nacional de Investigaciones Oncologicas CNIO, E 28029 Madrid, Spain
    Proc Natl Acad Sci U S A 108:5015-20. 2011
    ..Moreover, they may serve as a tool to evaluate the potential therapeutic efficacy of B-RAF inhibitors and establish the precise window at which they could be effective against this congenital syndrome...
  42. ncbi Mosaic monosomy 14: clinical features and recognizable facies
    V McConnell
    Department of Medical Genetics, Belfast City Hospital Trust, Belfast, UK
    Clin Dysmorphol 13:155-60. 2004
    ..A recognizable facial gestalt is present in children with 14q deletions or partial monosomy 14, as well as susceptibility to infection, feeding difficulties, seizures and retinal pigmentation...
  43. pmc Localisation of a gene for an autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia, and distinctive facies to chromosome 15q26
    R Bayoumi
    Department of Biochemistry, College of Medicine, Sultan Qaboos University, Muscat, Sultanate of Oman
    J Med Genet 38:369-73. 2001
    ..described an autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia (MED), and distinctive facies in a large, extended Omani family...
  44. ncbi Expanding the phenotype of oculoectodermal syndrome: possible relationship to encephalocraniocutaneous lipomatosis
    Holly H Ardinger
    Section of Medical Genetics and Molecular Medicine, Children s Mercy Hospitals and Clinics, Kansas City, Missouri, USA
    Am J Med Genet A 143:2959-62. 2007
    ..Here, we report 2 new cases, review 13 previous cases, and propose that OES may be a mild variant of encephalocraniocutaneous lipomatosis (ECCL), differing primarily in its lack of intracranial pathology...
  45. ncbi A patient with 22q11.2 deletion and Opitz syndrome-like phenotype has the same deletion as velocardiofacial patients
    Robert P Erickson
    Department of Pediatrics, University of Arizona, Tucson, Arizona, USA
    Am J Med Genet A 143:3302-8. 2007
    ..2 deletion. He shares the same deletion as patients with velocardiofacial and DiGeorge syndrome...
  46. ncbi Case report: Y;6 translocation with deletion of 6p
    Ophir D Klein
    Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA 94143 0748, USA
    Clin Dysmorphol 14:93-6. 2005
    ..Cytogenetic analysis showed the karyotype 46,XX,der(6)t(Y;6)(p11.2;p23).ish der(6)(SRY+,6pTEL48-). The effects of partial monosomy 6p are discussed and compared to other patients with interstitial and terminal 6p deletions...
  47. ncbi Further delineation of the 22q13 deletion syndrome
    S G Lindquist
    The John F Kennedy Institute, Glostrup, Denmark
    Clin Dysmorphol 14:55-60. 2005
    ..The deletions varied in size, extending from 4.0 to 9.0 Mb. The clinical phenotype seemed rather similar although some specific features might be attributable to differences in deletions...
  48. ncbi Pseudoaminopterin syndrome and trisomy 9
    David A Stevenson
    Am J Med Genet A 128:217-8. 2004
  49. ncbi Toriello-Carey syndrome and unbalanced translocation t(8;18)(p12;q22)
    T Martin-Denavit
    Am J Med Genet A 128:219-21. 2004
  50. ncbi Teunissen-Cremers syndrome: a clinical, surgical, and genetic report
    H H Weekamp
    Departments of Otorhinolaryngology Head and Neck Surgery, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Otol Neurotol 26:38-51. 2005
    ..To describe clinical and radiologic features, results of ear surgery, and genetic analysis in three families with Teunissen-Cremers syndrome...
  51. ncbi Paternal deletion 6q24.3: a new congenital anomaly syndrome associated with intrauterine growth failure, early developmental delay and characteristic facial appearance
    Małgorzata J M Nowaczyk
    Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada
    Am J Med Genet A 146:354-60. 2008
    ..We propose that this is a new congenital malformation syndrome associated with a paternal deletion of 6q24.3...
  52. ncbi Hypoparathyroidism-retardation-Dysmorphism (HRD) syndrome--a review
    Eli Hershkovitz
    Pediatric Endocrinology Unit and Department of Developmental Molecular Genetics, Soroka Medical Center and Faculty of Health Sciences, Ben Gurion University of the Negev, Beer Sheva, Israel
    J Pediatr Endocrinol Metab 17:1583-90. 2004
    ..Early recognition and therapy of hypocalcemia is important as is daily antibiotic prophylaxis against pneumococcal infections...
  53. ncbi Occipital atretic cephalocele, striking facial anomalies, and large feet in three siblings of a consanguineous union
    Roseli Maria Zechi-Ceide
    Serviço de Genética Clínica, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de Sao Paulo, Bauru, Sao Paulo, Brazil
    Am J Med Genet A 143:3295-301. 2007
    ..The phenotype is variable in the three patients. The finding of three affected siblings of a consanguineous couple strongly suggests autosomal recessive inheritance...
  54. ncbi Anesthetic management in a child with Coffin-Siris syndrome
    Paolo Silvani
    Paediatr Anaesth 14:698-700. 2004
  55. ncbi Orofacial manifestations of Robinow's syndrome: a case report in a pediatric patient
    Daniella Ferraz Cerqueira
    Department of Pediatric Dentistry and Orthodontics, School of Dentistry, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil
    Oral Surg Oral Med Oral Pathol Oral Radiol Endod 105:353-7. 2008
    Robinow's syndrome (Online Mendelian Inheritance in Man [OMIM] 268310), or fetal facies syndrome, is a rare genetic disorder causing autosomal dominant and recessive forms...
  56. ncbi Plantar lipomatosis, unusual facies, and developmental delay: confirmation of Pierpont syndrome
    Gretel G Oudesluijs
    Department of Clinical Genetics, University Medical Center Groningen, The Netherlands
    Am J Med Genet A 137:77-80. 2005
    ..The cause of the entity remains uncertain, the most likely etiologies being X-linked recessive or autosomal dominant genes...
  57. ncbi Familial transmission of a dysmorphic syndrome: a variant example of Kabuki syndrome?
    V Belengeanu
    Department of Medical Genetics, University of Medicine and Pharmacy, Piata Eftimie Murgu 2, Timisoara, Romania
    Genet Couns 16:167-71. 2005
    ..The phenotype observed in this family may represent the mild end of a spectrum of clinical manifestations described in this condition. This report provides a further evidence for autosomal dominant transmission of the disorder...
  58. ncbi Kabuki syndrome: a case report
    Z H S Lung
    Royal Victoria Hospital, Belfast, UK
    J Orthod 33:242-5. 2006
    ..The oral findings will aid the clinician in diagnosing this syndrome, which was once thought to be seen exclusively in the Japanese population...
  59. ncbi A newly recognized syndrome of Marfanoid habitus; long face; hypotelorism; long, thin nose; long, thin hands and feet; and a specific pattern of language and learning disabilities
    Célia M Giacheti
    Departamento de Fonoaudiologia, UNESP, Marilia, SP, Brazil
    Am J Med Genet A 143:3137-9. 2007
    ..The disorder is compatible with autosomal dominant inheritance...
  60. ncbi Distal joint contractures, mental retardation, characteristic face and growth retardation: Chitayat syndrome revisited
    S B Wortmann
    Radboud University Nijmegen Medical Centre, Nijmegen Centre for Mitochondrial Disorders, Department of Pediatrics, Nijmegen, The Netherlands
    Genet Couns 18:119-23. 2007
    ..The child has many overlapping features with those reported previously by Chitayat. We suggest that the central nervous anomalies are responsible for the congenital contractures in Chitayat syndrome...
  61. ncbi Genitourinary anomalies of pediatric FG syndrome
    James F Smith
    Division of Urology, University of Utah, Salt Lake City, Utah, USA
    J Urol 178:656-9. 2007
    ..This report may help elucidate the pathogenic mechanisms responsible for the disorder. Also, we provide a simple checklist for urologists that will help guide referrals for genetics and other specialty consultations...
  62. ncbi Filamin A mutation is one cause of FG syndrome
    Sheila Unger
    Institute for Human Genetics, University of Freiburg, Freiburg, Germany
    Am J Med Genet A 143:1876-9. 2007
    ..Filamin A studies in other children with FG syndrome would help to confirm this association...
  63. ncbi Dental findings in Kabuki make-up syndrome: a case report
    Cristiane Tomaz Rocha
    Department of Pediatric, Preventive and Social Dentistry, School of Dentistry of Ribeirao Preto, University of Sao Paulo, Ribeirao Preto, Sao Paulo, Brazil
    Spec Care Dentist 28:53-7. 2008
    ..The clinical and radiographic detection of these unique dental features may be helpful in identifying children who may have milder forms of KMS...
  64. ncbi Identification of proximal 1p36 deletions using array-CGH: a possible new syndrome
    S H L Kang
    Department of Molecular and Human Genetics, Baylor College of Medicine, Clinical Care Center, 6701 Fannin Street, Houston, TX 77030, USA
    Clin Genet 72:329-38. 2007
    ..delay, sensorineural hearing loss, seizures, cardiomyopathy and cardiovascular malformations, and distinct facies including large anterior fontanel, deep-set eyes, straight eyebrows, flat nasal bridge, asymmetric ears, and ..
  65. ncbi The fifth female patient with Myhre syndrome: further delineation
    Luis E Becerra-Solano
    Genetics Division, Biomedical Research Center of the West Mexican Social Security Institute, Guadalajara, Mexico
    Clin Dysmorphol 17:113-7. 2008
    ..Mexican girl whose phenotype fulfills all the clinical and radiological criteria reported in MS such as typical facies, short stature, limited joint mobility, and short hands and feet...
  66. ncbi Pai syndrome: report of seven South American patients
    Maria Leine Guion-Almeida
    Serviço de Genética Clínica, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de Sao Paulo, Bauru, SP, Brazil
    Am J Med Genet A 143:3273-9. 2007
    ..2) in one instance...
  67. ncbi Craniofacial cephalometric morphology in children with CATCH 22 syndrome
    A Heliövaara
    Department of Plastic Surgery, Cleft Center, Helsinki University Central Hospital, HUS, Finland
    Orthod Craniofac Res 9:186-92. 2006
    ..To evaluate cephalometrically the craniofacial, pharyngeal and cervical morphology in children with CATCH 22, and to compare and quantify the findings with age- and sex-matched controls...
  68. ncbi Bird-headed dwarf of Seckel
    B G Harsha Vardhan
    Department of Oral Medicine and Radiology, Meenakshi Ammal Dental College and Hospital, Maduravoyal, Chennai, India
    J Indian Soc Pedod Prev Dent 25:S8-9. 2007
    ..Other facial features may include abnormally large eyes, a narrow face, malformed ears and an unusually small jaw. This syndrome has an autosomal recessive pattern of inheritance. A case of the Seckel syndrome is presented...
  69. ncbi Nonsense mutations of the ZFHX1B gene in two Japanese girls with Mowat-Wilson syndrome
    Teguh Haryo Sasongko
    Department of Public Health, Kobe University Graduate School of Medicine
    Kobe J Med Sci 53:157-62. 2007
    ..In conclusion, molecular genetic analysis of ZFHX1B is important for a definite diagnosis of MWS which has a wide phenotypic spectrum of congenital anomalies...
  70. ncbi Stickler syndrome: clinical characteristics and diagnostic criteria
    Peter S Rose
    Warren Magnuson Grant Clinical Center, National Institutes of Health, Bethesda, Maryland, USA
    Am J Med Genet A 138:199-207. 2005
    ....
  71. ncbi Sotos syndrome caused by a paracentric inversion disrupting the NSD1 gene
    V Malan
    Clin Genet 73:89-91. 2008
  72. ncbi Costello syndrome and related disorders
    Emilio Quezada
    Division of Medical Genetics, A I duPont Hospital for Children, Wilmington, Delaware 19803, USA
    Curr Opin Pediatr 19:636-44. 2007
    ..The discovery of gene mutations underlying these and other closely related disorders allows for molecular confirmation of a clinical diagnosis...
  73. ncbi What syndrome is this? Dubowitz syndrome
    Jose Carlos Pascual
    Department of Dermatology, Hospital General Universitario de Alicante, Alicante, Spain
    Pediatr Dermatol 22:480-1. 2005
  74. ncbi Hay-Wells syndrome (AEC): a case report
    Emilio Macias
    Department of Orthodontics, Faculty of Medicine, University of Oviedo, Spain
    Oral Dis 12:506-8. 2006
    ..The majority of authors consider ankyloblepharon, ectodermal dysplasia and orofacial clefting as cardinal signs. They are all are present in the case reported...
  75. ncbi The face of Joubert syndrome: a study of dysmorphology and anthropometry
    Stephen R Braddock
    University of Virginia Pediatrics, Charlottesville, California, USA
    Am J Med Genet A 143:3235-42. 2007
    ..Variability and overlap of features in JS and other hindbrain syndromes makes clinical diagnosis difficult and probably reflects genetic heterogeneity within the cohort of patients with the MTS...
  76. ncbi Axenfeld-Rieger syndrome: report on dental and craniofacial findings
    Ashok Kumar Jena
    Centre for Dental Education and Research, All India Institute of Medical Sciences, New Delhi, India
    J Clin Pediatr Dent 30:83-8. 2005
    ..There was an anterior crossbite, bilateral posterior open-bite and moderate to severe anterior crowding...
  77. ncbi Characterizing the oculoauriculofrontonasal syndrome
    Michael T Gabbett
    Genetic Health Queensland, Royal Children s Hospital, University of Queensland, Brisbane, Queensland, Australia
    Clin Dysmorphol 17:79-85. 2008
    ....
  78. ncbi Dental findings of a child with Wolf-Hirschhorn syndrome
    N J Johnston
    Department of Child Dental Health, Bristol Dental Hospital, Lower Maudlin Street, Bristol, BS1 2LY, UK
    Int J Paediatr Dent 16:139-42. 2006
    ..It also suggests that other dental anomalies could occur in children with Wolf-Hirschhorn syndrome...
  79. ncbi Familial multiple ventricular extrasystoles, short stature, craniofacial abnormalities and digital hypoplasia: a further case of Stoll syndrome?
    Catherine L Mercer
    Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK
    Clin Dysmorphol 17:91-3. 2008
    ..These families have some similarities to those reported by Stoll et al. in a single family, showing dominant inheritance. Our patients would seem to have the same or a related condition...
  80. ncbi A second family with Micro syndrome
    G RodrIguez Criado
    Unidad de Dismorfología, Infantil Universitario Virgen del Rocio, Sevilla, Spain
    Clin Dysmorphol 8:241-5. 1999
    ..The facies are mildly dysmorphic, but not distinctive. No metabolic, nor chromosomal anomalies were found...
  81. ncbi Guadalajara camptodactyly syndrome type I: report on a new case
    R M Zechi-Ceide
    Clinical Genetics, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de Sao Paulo, Bauru, Brazil
    Clin Dysmorphol 11:129-32. 2002
    ..The constellation of clinical signs present in this patient is consistent with the diagnosis of Guadalajara camptodactyly syndrome type I. Clinical and genetic aspects concerning this condition are discussed...
  82. ncbi Inv dup del(4)(:p14 --> p16.3::p16.3 --> qter) with manifestations of partial duplication 4p and Wolf-Hirschhorn syndrome
    Yuki Kondoh
    Kyushu Medical Science Nagasaki Laboratory, Nagasaki, Japan
    Am J Med Genet A 120:123-6. 2003
    ..Olfactory receptor gene clusters at 4p16.3 were ruled out as an intermediary of the duplication deletion process...
  83. ncbi Freeman-Sheldon syndrome: a case report
    Gamze Aren
    Department of Pedodontics, Faculty of Dentistry, University of Istanbul, Istanbul, Turkey
    Quintessence Int 34:307-10. 2003
    ..This article describes a case of Freeman-Sheldon syndrome in a 10-year-old male. The most apparent deformities are associated with orofacial and skeletal development...
  84. ncbi DOOR syndrome: report of three additional cases
    Temis Maria Felix
    Servicio de Genetica medica, Hospital de Clinicas de Porto Alegre, Rio Grande do Sul, Brazil
    Clin Dysmorphol 11:133-8. 2002
    ..Three new cases of DOOR syndrome are described in unrelated Brazilian children. One of these cases also has a congential cardiac defect. None of the cases has organic acid abnormalities and they can therefore be classified as Type II...
  85. ncbi Schinzel-Giedion syndrome: interesting facial and orodental features, and dental management
    M E Cooke
    Department of Paediatric Dentistry, Charles Clifford Dental Hospital, Sheffield, UK
    Int J Paediatr Dent 12:66-72. 2002
    Schinzel-Giedion syndrome comprises multiple congenital anomalies. The orofacial features include coarse facies, frontal bossing, ocular hypertelorism, anterior open bite and macrodontia...
  86. pmc Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome
    Heidi A Heilstedt
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Am J Hum Genet 72:1200-12. 2003
    ..Our clinical findings allow for the more accurate recognition of the syndrome and for proper medical evaluation...
  87. ncbi Cerebro-oculo-facial-lymphatic syndrome
    J M Milunsky
    Center for Human Genetics, Department of Pediatrics, Boston University School of Medicine, Massachusetts 02118, USA
    Clin Genet 63:291-6. 2003
    ..We propose the syndromic appellation of cerebro-oculo-facial-lymphatic syndrome, suggest cardinal diagnostic features, and discuss several possible overlapping syndromic diagnoses...
  88. ncbi Diagnosing acrocallosal syndrome
    Ashutosh Gupta
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
    Indian J Pediatr 70:177-9. 2003
    ..A 3-month-old male child presented with typical features of acrocallosal syndrome. He satisfies Courten's diagnostic criteria for acrocallosal syndrome...
  89. ncbi Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome
    T Takahashi
    Department of Pediatrics, Akita University School of Medicine, Akita, Japan
    Clin Genet 60:447-51. 2001
    ..386T>A (L129X) in a familial case of symphalangism, and a g.58delC (frameshift) in a family with multiple synostosis syndrome. Characteristic genotype-phenotype correlations have not been recognized from the mutations in the NOG gene...
  90. ncbi Macular deposits: a new feature of Kabuki syndrome?
    Samer M Elsherbiny
    Birmingham and Midland Eye Center, United Kingdom
    J Pediatr Ophthalmol Strabismus 39:251-3. 2002
  91. ncbi Toriello-Carey syndrome: delineation and review
    Helga V Toriello
    Genetics Services, Spectrum Health, Grand Rapids, Michigan, USA
    Am J Med Genet A 123:84-90. 2003
    ..However, for various reasons, only 25 of the unpublished patients were included in this review. Based on this total, we can begin to better delineate this syndrome, as well as provide some information on natural history...
  92. ncbi Short stature, sensorineural deafness, ocular abnormalities and severe mental retardation in two siblings. A new syndrome?
    Ingrid B Sinnerbrink
    Department of Clinical Genetics, The Western Sydney Genetics Program, The Children s Hospital at Westmead, Randwick NSW, Sydney, Australia
    Clin Dysmorphol 13:173-7. 2004
    ..We have reviewed similar cases in the literature and discuss these in the context of our cases, who may have a previously undescribed syndrome...
  93. ncbi Seckel syndrome associated with atrioventricular canal defect: a case report
    Birsen Ucar
    Clin Dysmorphol 13:53-5. 2004
    ..We report a boy with this syndrome who also had severe cardiac anomalies. Although his parents were non-consanguineous, it is suggested that he had autosomal recessive inheritance...
  94. ncbi Loose anagen hair syndrome associated with colobomas and dysmorphic features
    Lars Kjaersgård Hansen
    Clin Dysmorphol 13:31-2. 2004
    ..She also had several other anomalies including colobomas. We suggest that the combination of features in this patient may constitute a specific syndromic phenotype...
  95. ncbi [Siblings with neonatal progeroid syndrome (Wiedemann-Rautenstrauch)]
    T Hoppen
    Klinik fur Kinder und Jugendmedizin, Städtisches Klinikum Kemperhof, Koblenz
    Klin Padiatr 216:70-1. 2004
    ..NPS is usually lethal by 7 months. 5 pairs of siblings with NPS are already published. We present the second report worldwide of two siblings with NPS actually at the age of 5 and 15 years...
  96. ncbi 22q13 deletion syndrome with central diabetes insipidus: a previously unreported association
    Amin J Barakat
    Georgetown University Medical Center, Washington, DC, USA
    Clin Dysmorphol 13:191-4. 2004
    ..The association of 22q13 deletion syndrome with central diabetes insipidus is reported for the first time...
  97. ncbi [Hypomelanosis of Ito. A possibly under-diagnosed heterogeneous neurocutaneous syndrome]
    C Gomez-Lado
    Servicio de Neuropediatria, Hospital Clinico Universitario de Santiago de Compostela, Santiago de Compostela, Espana
    Rev Neurol 38:223-8. 2004
    ..Hypomelanosis of Ito (HI) or incontinentia pigmenti achromians is a multisystemic neurocutaneous disorder that is associated to neurological complications in a high percentage of patients...
  98. ncbi Occlusal guidance of two Kabuki make-up syndrome patients: case reports
    Keisuke Takada
    Department of Oral Growth and Development, Fukuoka Dental College, Japan
    J Clin Pediatr Dent 28:113-8. 2004
    ..Oral characters of another patient were an anterior open bite, transposition of maxillary central and lateral incisor. Orthodontic treatment in two patients is reported and suggested future treatment plans in these patients is given...
  99. ncbi Cutaneous manifestations of endocrine disorders: a guide for dermatologists
    Serge A Jabbour
    Division of Endocrinology, Diabetes and Metabolism, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
    Am J Clin Dermatol 4:315-31. 2003
    ..The striking features of Cushing syndrome are centripetal obesity, moon facies, buffalo hump, supraclavicular fat pads, and abdominal striae...
  100. ncbi Stable iron isotopes and microbial mediation in red pigmentation of the Rosso Ammonitico (mid-late Jurassic, Verona area, Italy)
    Alain R Préat
    Department of Earth and Environmental Sciences, Universite Libre de Bruxelles ULB, Brussels, Belgium
    Astrobiology 8:841-57. 2008
    ..52 to -0.06 per thousand) on a millimeter-centimeter scale between the red and grey facies of the studied formation...
  101. ncbi [Effects of manipulation therapy in repairing rabbit articular cartilage defects]
    Ling Hui Dai
    Department of Traumatology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China
    Zhong Xi Yi Jie He Xue Bao 7:372-9. 2009
    ..To evaluate the efficacy of manipulation therapy in repairing thin-layer and thick-layer articular cartilage defects in rabbits...

Research Grants25

  1. Identify genes causing Kabuki Syndrome
    JEFFREY MILUNSKY; Fiscal Year: 2006
    ..unreadable] [unreadable] [unreadable]..
  2. IDENTIFICATION OF IMPRINTED GENES ON CHROMOSOME 14
    Lisa Shaffer; Fiscal Year: 2001
    ..in a short- limb dwarfism with narrow thorax, decreased survival due to respiratory difficulties, dysmorphic facies, scoliosis, and short status...
  3. GENETIC BASIS OF THE ALAGILLE SYNDROME
    Elizabeth Rand; Fiscal Year: 1999
    ..The Alagille Syndrome is a clinically defined disorder characterized by cholestatic liver disease, a peculiar facies, structural heart defects, vertebral anomalies and ocular abnormalities...
  4. THE ROLE OF UFD1 AND CDC45 IN NEURAL CREST DEVELOPMENT
    Vidu Garg; Fiscal Year: 2004
    ..The CATCH-22 (gardiac defects, abnormal facies, !hymic hypoplasia, cleft palate, and itypocalcemia associated with chromosome 22 microdeletion) syndrome is ..
  5. GENETIC & ENVIRONMENTAL DETERMINANTS OF CRANIOFACIAL DIS
    Brendan Lee; Fiscal Year: 2005
    ..of other malformations affecting skeletal development as well as for diagnosis subtle defects of the cranium and facies. At the same time, cell non-autonomous processes such as vascular hypoperfusion contribute to the genesis of birth ..
  6. GENE DISCOVERY FOR CRANIOFACIAL DISORDERS
    Richard Spritz; Fiscal Year: 2007
    ..craniofacial development that, in particular, should identify genetic pathways and networks of the developing facies that are responsive to Ski...
  7. MOLECULAR GENETICS OF FACIO AUDIO SYMPHALANGISM
    Deborah Krakow; Fiscal Year: 1999
    ..FAS) is an autosomal dominant disorder characterized by a triad of findings including distinct facies, early onset deafness and progressive joint fusions. We have identified a large Hawaiian family with this disorder...
  8. Identify Waardenburg syndrome type 2 loci in man
    JEFFREY MILUNSKY; Fiscal Year: 2005
    ..We will perform a high-density genome scan coupled with linkage disequilibrium analyses on 3 large multigenerational families and multiple smaller families with WS2 to identify candidate gene(s) with mutations causing WS2. ..
  9. MRI/S in Children with Prenatal Alcoholic Exposure
    Susan Astley; Fiscal Year: 2004
    ..A pilot feasibility study will also be conducted to determine if fMRI can be effectively administered to this population. ..
  10. GENETICS OF PARKINSON DISEASE IN THE AMISH
    Brad Racette; Fiscal Year: 2006
    ..abstract_text> ..
  11. Association of 7q22..1 gene VGF with obesity & leanness
    John Martignetti; Fiscal Year: 2008
    ..These physiologically linked, target-tissue genes may themselves play a functional role in obesity resistance or susceptibility, and thus become excellent candidates for future investigation. ..
  12. FAS Prevention: A Trial of the IOM Model
    Philip May; Fiscal Year: 2009
    ..Selective and universal prevention use: screening for alcohol abuse;targeted messages to change norms and KABB;policy advocacy;and community education and dialogue. ..
  13. Genetic analysis of congenital diaphragmatic hernia
    Anne Slavotinek; Fiscal Year: 2006
    ..abstract_text> ..
  14. GENETIC DISSECTION OF A BONE DYSPLASIA/CANCER SYNDROME
    John Martignetti; Fiscal Year: 2002
    ....
  15. International Neuropsychological Study of FASD--U01
    Philip May; Fiscal Year: 2005
    ..abstract_text> ..
  16. Schizophrenia Predisposition in 22q11 Deletion Syndrome
    Vandana Shashi; Fiscal Year: 2005
    ..abstract_text> ..
  17. TRIAL OF FAS PREVENTION IN AMERICAN INDIAN COMMUNITIES
    Philip May; Fiscal Year: 2001
    ..Furthermore, prevention protocols, research techniques and methods, will test the recommendations of the IOM report and should also be applicable to non-Indian communities as well. ..
  18. Trial of FAS Prevention and Diagnosis Among Indians
    Philip May; Fiscal Year: 2008
    ..The proposed renewal will ensure sufficient time to test the IOM model of prevention while advancing science in several other ways. ..
  19. Epidemilogy of Parkinsonism in Welders
    Brad A Racette; Fiscal Year: 2011
    ..The cohort assembled will provide unique opportunities for future research projects into gene-environment interactions and exposure related neuroimaging changes. ..
  20. Patient-Oriented Research in Recessive Pediatric Brain Diseases
    Joseph Gleeson; Fiscal Year: 2008
    ....
  21. Molecular Mechanisms of Neuronal Migration
    Joseph Gleeson; Fiscal Year: 2006
    ..2) DCX and LIS1 function to regulate nuclear movement during neuronal migration. 3) DCX is regulated by cdk5 during neuronal migration. ..
  22. The Molecular Basis of Pseudoexfoliation Syndrome
    Pratap Challa; Fiscal Year: 2007
    ..The Ophthalmology department at Duke University is an ideal setting for training physician-scientists and has an established track record of strong support for promising clinician-scientists. ..
  23. Molecular Analysis of Alagille Syndrome
    NANCY SPINNER; Fiscal Year: 2006
    ..abstract_text> ..
  24. Functional MRI of Cognitive Activation in FAS/FAE
    Paul Connor; Fiscal Year: 2004
    ....
  25. AIRWAY MYOCYTE PROLIFERATION AND LYSOSOMAL HYDROLASE
    DUKHEE LEW; Fiscal Year: 2001
    ..The proposed studies are intended to advance the knowledge of the mechanism(s) underlying airway smooth muscle proliferation. ..