M L Marazita

Summary

Affiliation: University of Pittsburgh
Country: USA

Publications

  1. pmc Use of 16S ribosomal RNA gene analyses to characterize the bacterial signature associated with poor oral health in West Virginia
    Joan C Olson
    Department of Microbiology, Immunology and Cell Biology, West Virginia University, Morgantown, WV, USA
    BMC Oral Health 11:7. 2011
  2. pmc Identifying genomic regions for fine-mapping using genome scan meta-analysis (GSMA) to identify the minimum regions of maximum significance (MRMS) across populations
    Margaret E Cooper
    Center for Craniofacial and Dental Genetics, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA 15219, USA
    BMC Genet 6:S42. 2005
  3. pmc Methods for detecting gene x gene interaction in multiplex extended pedigrees
    Guy N Brock
    Department of Human Genetics, University of Pittsburgh, 130 DeSoto St, Pittsburgh, PA 15261, USA
    BMC Genet 6:S144. 2005
  4. pmc Genome scan for loci involved in cleft lip with or without cleft palate, in Chinese multiplex families
    Mary L Marazita
    Center for Craniofacial and Dental Genetics, Division of Oral Biology, School of Dental Medicine, University of Pittsburgh, 3501 Terrace Street, Pittsburgh, PA 15261, USA
    Am J Hum Genet 71:349-64. 2002
  5. ncbi request reprint Genome-scan for loci involved in cleft lip with or without cleft palate in consanguineous families from Turkey
    Mary L Marazita
    Center for Craniofacial and Dental Genetics, Division of Oral Biology, School of Dental Medicine, University of Pittsburgh, Suite 500 Cellomics Building, Pittsburgh, 100 Technology Drive, Pittsburgh, PA 15219, USA
    Am J Med Genet A 126:111-22. 2004
  6. ncbi request reprint Genetic segregation analysis of autonomic nervous system dysfunction in families of probands with idiopathic congenital central hypoventilation syndrome
    M L Marazita
    Department of Oral and Maxillofacial Surgery and Division of Oral Biology, University of Pittsburgh, Pittsburgh, Pennsylvania 15261, USA
    Am J Med Genet 100:229-36. 2001
  7. ncbi request reprint Current concepts in the embryology and genetics of cleft lip and cleft palate
    Mary L Marazita
    Center for Craniofacial and Dental Genetics, Department of Oral and Maxillofacial Surgery, School of Dental Medicine, University of Pittsburgh, PA 15219, USA
    Clin Plast Surg 31:125-40. 2004
  8. pmc Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35
    Mary L Marazita
    Center for Craniofacial and Dental Genetics, Division of Oral Biology, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA 15219, USA
    Am J Hum Genet 75:161-73. 2004
  9. ncbi request reprint Nonsyndromic cleft lip with or without cleft palate in China: assessment of candidate regions
    Mary L Marazita
    Division of Oral Biology, School of Dental Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania 15261 1931, USA
    Cleft Palate Craniofac J 39:149-56. 2002
  10. pmc GWAS of dental caries patterns in the permanent dentition
    J R Shaffer
    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA 15261, USA
    J Dent Res 92:38-44. 2013

Collaborators

Detail Information

Publications93

  1. pmc Use of 16S ribosomal RNA gene analyses to characterize the bacterial signature associated with poor oral health in West Virginia
    Joan C Olson
    Department of Microbiology, Immunology and Cell Biology, West Virginia University, Morgantown, WV, USA
    BMC Oral Health 11:7. 2011
    ..This pilot study explored the etiology of this disparity using culture-independent analyses to identify bacterial species associated with oral disease...
  2. pmc Identifying genomic regions for fine-mapping using genome scan meta-analysis (GSMA) to identify the minimum regions of maximum significance (MRMS) across populations
    Margaret E Cooper
    Center for Craniofacial and Dental Genetics, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA 15219, USA
    BMC Genet 6:S42. 2005
    ..This GSMA analysis approach demonstrates the power of linkage meta-analysis to detect multiple genes simultaneously for a complex disorder. The MRMS method enhances this powerful tool to focus on more localized regions of linkage...
  3. pmc Methods for detecting gene x gene interaction in multiplex extended pedigrees
    Guy N Brock
    Department of Human Genetics, University of Pittsburgh, 130 DeSoto St, Pittsburgh, PA 15261, USA
    BMC Genet 6:S144. 2005
    ..In general, we found detection of the interacting loci to be a difficult problem, and though we experienced some modest success there is a clear need to continue developing new methods and approaches to the problem...
  4. pmc Genome scan for loci involved in cleft lip with or without cleft palate, in Chinese multiplex families
    Mary L Marazita
    Center for Craniofacial and Dental Genetics, Division of Oral Biology, School of Dental Medicine, University of Pittsburgh, 3501 Terrace Street, Pittsburgh, PA 15261, USA
    Am J Hum Genet 71:349-64. 2002
    ..0; alpha=0.37) were for chromosomes 3q and 4q. Associations with P< or =.05 were found for loci on chromosomes 3, 5-7, 9, 11, 12, 16, 20, and 21. The most significant association result (P=.009) was found with D16S769 (51 cM)...
  5. ncbi request reprint Genome-scan for loci involved in cleft lip with or without cleft palate in consanguineous families from Turkey
    Mary L Marazita
    Center for Craniofacial and Dental Genetics, Division of Oral Biology, School of Dental Medicine, University of Pittsburgh, Suite 500 Cellomics Building, Pittsburgh, 100 Technology Drive, Pittsburgh, PA 15219, USA
    Am J Med Genet A 126:111-22. 2004
    ..25, 1.30, 2.73, and 1.28 respectively). These results demonstrate the power of small numbers of families with inbred probands to detect linkage and association...
  6. ncbi request reprint Genetic segregation analysis of autonomic nervous system dysfunction in families of probands with idiopathic congenital central hypoventilation syndrome
    M L Marazita
    Department of Oral and Maxillofacial Surgery and Division of Oral Biology, University of Pittsburgh, Pittsburgh, Pennsylvania 15261, USA
    Am J Med Genet 100:229-36. 2001
    ....
  7. ncbi request reprint Current concepts in the embryology and genetics of cleft lip and cleft palate
    Mary L Marazita
    Center for Craniofacial and Dental Genetics, Department of Oral and Maxillofacial Surgery, School of Dental Medicine, University of Pittsburgh, PA 15219, USA
    Clin Plast Surg 31:125-40. 2004
    ..Continued genetic analyses and developmental studies are crucial for eventual understanding of the complex etiology of these common congenital anomalies...
  8. pmc Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35
    Mary L Marazita
    Center for Craniofacial and Dental Genetics, Division of Oral Biology, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA 15219, USA
    Am J Hum Genet 75:161-73. 2004
    ..0004). These are the first genomewide significant linkage results ever reported for CL/P, and they represent an unprecedented demonstration of the power of linkage analysis to detect multiple genes simultaneously for a complex disorder...
  9. ncbi request reprint Nonsyndromic cleft lip with or without cleft palate in China: assessment of candidate regions
    Mary L Marazita
    Division of Oral Biology, School of Dental Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania 15261 1931, USA
    Cleft Palate Craniofac J 39:149-56. 2002
    ..Therefore, the objective of this study of Chinese families was to evaluate linkage and association between CL/P and 10 genetic markers in five chromosomal regions that have shown positive results in Caucasians...
  10. pmc GWAS of dental caries patterns in the permanent dentition
    J R Shaffer
    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA 15261, USA
    J Dent Res 92:38-44. 2013
    ..Suggestive genetic associations were also observed for ABCG2, PKD2, the dentin/bone SCPP sub-family, EDNRA, TJFBR1, NKX2-3, IFT88, TWSG1, IL17D, and SMAD7 (p values < 7e-6). We nominate these novel genes for future study...
  11. pmc Clustering tooth surfaces into biologically informative caries outcomes
    J R Shaffer
    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA 15261, USA
    J Dent Res 92:32-7. 2013
    ....
  12. pmc Genetic susceptibility to dental caries on pit and fissure and smooth surfaces
    J R Shaffer
    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA
    Caries Res 46:38-46. 2012
    ..001), indicating that genetic factors may exert differential effects on caries risk in PFS versus SMS in the primary dentition...
  13. pmc Face shape of unaffected parents with cleft affected offspring: combining three-dimensional surface imaging and geometric morphometrics
    S M Weinberg
    Center for Craniofacial and Dental Genetics, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA, USA
    Orthod Craniofac Res 12:271-81. 2009
    ..In the present study, 3D surface imaging and statistical shape analysis were used to evaluate face shape differences between the unaffected (non-cleft) parents of individuals with CL / P and unrelated controls...
  14. pmc Genome-wide Association Studies of Pit-and-Fissure- and Smooth-surface Caries in Permanent Dentition
    Z Zeng
    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA
    J Dent Res 92:432-7. 2013
    ..g., CXCR1 and CXCR2, p value = 1.9E-6). This study supports the notion that genes differentially affect cariogenesis across the surfaces of the permanent dentition, and nominates several novel genes for investigation...
  15. pmc Genes and their effects on dental caries may differ between primary and permanent dentitions
    X Wang
    Center for Craniofacial and Dental Genetics, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA 15219, USA
    Caries Res 44:277-84. 2010
    ..Moreover, metrics for quantifying caries that incorporate white-spot lesions may serve as better phenotypes in genetic studies of the causes of tooth decay...
  16. ncbi request reprint Chromosome 17: gene mapping studies of cleft lip with or without cleft palate in Chinese families
    Supakit Peanchitlertkajorn
    School of Dental Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania 15261 4004, USA
    Cleft Palate Craniofac J 40:71-9. 2003
    ..The purpose of the present study was to investigate several loci on chromosome 17, including RARA, in Chinese families...
  17. pmc Novel cleft susceptibility genes in chromosome 6q
    A Letra
    Department of Oral Biology and Center for Craniofacial and Dental Genetics, University of Pittsburgh, 614 Salk Hall, 3501 Terrace Street, Pittsburgh, PA 15261, USA
    J Dent Res 89:927-32. 2010
    ..We provide further evidence of the involvement of chromosome 6q in cleft lip/palate and suggest PRSS35 as a novel candidate gene...
  18. pmc Genetic and environmental factors associated with dental caries in children: the Iowa Fluoride Study
    X Wang
    Center for Craniofacial and Dental Genetics, University of Pittsburgh Suite 500 Bridgeside Point, 100 Technology Drive Pittsburgh, PA 15219, USA xiw23 pitt edu
    Caries Res 46:177-84. 2012
    ..Our results support the concept that genes can modify the susceptibility of caries in children. Replication analysis in independent cohorts is highly needed in order to verify the validity of our findings...
  19. ncbi request reprint Parental craniofacial morphology in cleft lip with or without cleft palate as determined by cephalometry: a meta-analysis
    S M Weinberg
    Center for Craniofacial and Dental Genetics, Division of Oral Biology, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA 15219, USA
    Orthod Craniofac Res 9:18-30. 2006
    ..To integrate findings from previous cephalometric studies comparing the craniofacial complex of unaffected parents with cleft lip with or without cleft palate (CL/P) children to controls with no history of the disease...
  20. pmc Taste genes associated with dental caries
    S Wendell
    Center for Oral Health Research in Appalachia, University of Pittsburgh, PA, USA
    J Dent Res 89:1198-202. 2010
    ..Statistically significant associations were seen in TAS2R38 and TAS1R2 for caries risk and/or protection...
  21. ncbi request reprint Quantitative trait linkage analysis of the liability underlying a common oligogenic disease
    B S Maher
    University of Pittsburgh, Pittsburgh, PA 15261, USA
    Genet Epidemiol 21:S720-5. 2001
    ....
  22. ncbi request reprint Social anxiety in Chinese adults with oral-facial clefts
    N W Berk
    Cleft Palate Craniofacial Center, University of Pittsburgh School of Dental Medicine, Pennsylvania 15261, USA
    Cleft Palate Craniofac J 38:126-33. 2001
    ..This study examined social anxiety and measures of psychosocial adjustment in Chinese adults with oral-facial clefts, their unaffected siblings, and age-matched controls...
  23. ncbi request reprint Medical genetics on the cleft palate-craniofacial team: understanding parental preference
    N W Berk
    Cleft Palate Craniofacial Center, University of Pittsburgh School of Dental Medicine, Pennsylvania 15261, USA
    Cleft Palate Craniofac J 36:30-5. 1999
    ....
  24. ncbi request reprint Cleft lip with or without cleft palate and dermatoglyphic asymmetry: evaluation of a Chinese population
    K Neiswanger
    Division of Oral Biology, Department of Oral and Maxillofacial Surgery, School of Dental, Medicine, University of Pittsburgh, PA, USA
    Orthod Craniofac Res 5:140-6. 2002
    ..To determine if Chinese individuals with non syndromic cleft lip with or without cleft palate (CL/P) display more dermatoglyphic asymmetry than unaffected relatives or controls...
  25. ncbi request reprint Reduced folate carrier 1 (RFC1) is associated with cleft of the lip only
    A R Vieira
    Department of Oral Biology, School of Dental Medicine, University of Pittsburgh, 3501 Terrace Street, Pittsburgh, PA 15261, USA
    Braz J Med Biol Res 41:689-93. 2008
    ..Our results provide a new indication that variation in RFC1 may contribute to cleft lip only. Future studies should investigate the association between oral clefts and RFC1 based on more discrete phenotypes...
  26. ncbi request reprint The Pittsburgh Oral-Facial Cleft study: expanding the cleft phenotype. Background and justification
    Seth M Weinberg
    Department of Anthropology, Center for Craniofacial and Dental Genetics, School of Dental Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania 15219, USA
    Cleft Palate Craniofac J 43:7-20. 2006
    ....
  27. ncbi request reprint Digital three-dimensional photogrammetry: evaluation of anthropometric precision and accuracy using a Genex 3D camera system
    Seth M Weinberg
    Department of Anthropology, University of Pittsburgh, Pittsburgh, Pennsylvania, USA
    Cleft Palate Craniofac J 41:507-18. 2004
    ..To determine the precision and accuracy of facial anthropometric measurements obtained through digital three-dimensional (3D) photogrammetry...
  28. doi request reprint Three-dimensional morphometric analysis of craniofacial shape in the unaffected relatives of individuals with nonsyndromic orofacial clefts: a possible marker for genetic susceptibility
    Seth M Weinberg
    Center for Craniofacial and Dental Genetics, School of Dental Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania, USA
    Am J Med Genet A 146:409-20. 2008
    ..These findings further suggest that a quantitative assessment of the craniofacial phenotype may allow for the identification of susceptible individuals within nonsyndromic cleft families...
  29. ncbi request reprint Genome-wide scan finds suggestive caries loci
    A R Vieira
    Department of Oral Biology, Universityof Pittsburgh School of Dental Medicine, Pittsburgh, PA 15261, USA
    J Dent Res 87:435-9. 2008
    ..1 and 14q24.3). Genes that may be related to saliva flow and diet preferences are proposed as possible candidates. A protective locus for caries in the X chromosome may explain the gender differences seen in caries frequency...
  30. ncbi request reprint Evidence of genetic heterogeneity for hereditary gingival fibromatosis
    T C Hart
    Division of Oral Biology, University of Pittsburgh School of Dental Medicine, PA 15261, USA
    J Dent Res 79:1758-64. 2000
    ..Analysis of these data provides direct evidence that at least two genetically distinct loci are responsible for autosomal-dominant hereditary gingival fibromatosis...
  31. ncbi request reprint Sequence variations in CREB1 cosegregate with depressive disorders in women
    G S Zubenko
    Department of Psychiatry, School of Medicine, University of Pittsburgh, Pittsburgh, PA, USA
    Mol Psychiatry 8:611-8. 2003
    ..These findings implicate the cAMP signaling pathway in the pathophysiology of Mood Disorders and related conditions...
  32. ncbi request reprint Dermatoglyphic fingerprint heterogeneity among individuals with nonsyndromic cleft lip with or without cleft palate and their unaffected relatives in China and the Philippines
    Nicole M Scott
    Center for Craniofacial and Dental Genetics, School of Dental Medicine, University of Pittsburgh, Suite 500, Cellomics Building, 100 Technology Dr, Pittsburgh, PA 15219, USA
    Hum Biol 77:257-66. 2005
    ..These results support our hypothesis that population-specific associations and population heterogeneity in dermatoglyphic patterns exist for CL/P cases and their relatives...
  33. pmc Follow-up association studies of chromosome region 9q and nonsyndromic cleft lip/palate
    Ariadne Letra
    Department of Oral Biology, University of Pittsburgh, Pittsburgh, Pennsylvania, PA 15261, USA
    Am J Med Genet A 152:1701-10. 2010
    ..32-34.1 region harbors cleft susceptibility genes. Additional studies with other populations should focus on these loci to further investigate the participation of these genes in human clefting...
  34. ncbi request reprint Genetic segregation analysis of recurrent, early-onset major depression: evidence for single major locus transmission
    Brion S Maher
    Division of Oral Biology, University of Pittsburgh, School of Dental Medicine, Pittsburgh, Pennsylvania, USA
    Am J Med Genet 114:214-21. 2002
    ..Our findings illustrate the advantage of employing families identified by probands with RE-MDD in studies designed to detect susceptibility loci for unipolar MDD and related disorders...
  35. ncbi request reprint Dermatoglyphic pattern types in subjects with nonsyndromic cleft lip with or without cleft palate (CL/P) and their unaffected relatives in the Philippines
    Nicole M Scott
    Center for Craniofacial and Dental Genetics, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA 15219, USA
    Cleft Palate Craniofac J 42:362-6. 2005
    ..To investigate dermatoglyphic patterns in 95 nonsyndromic Filipino subjects with nonsyndromic cleft lip with or without cleft palate (CL/P) and 90 of their unaffected relatives...
  36. pmc Genetic segregation analyses of serum IgG2 levels
    M L Marazita
    Cleft Palate Craniofacial Center, Department of Oral and Maxillofacial Surgery, University of Pittsburgh, Pennsylvania 15261, USA
    Am J Hum Genet 58:1042-9. 1996
    ..Smoking and GM23 are also known to affect IgG2 levels. If additional adjustments are made for smoking and GM23, the best-fitting model is still a codominant major locus but with no significant residual correlations...
  37. pmc Genome-wide association scan for childhood caries implicates novel genes
    J R Shaffer
    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA
    J Dent Res 90:1457-62. 2011
    ..Verification/replication of suggestive loci may highlight biological mechanisms and/or pathways leading to a fuller understanding of the genetic risks for dental caries...
  38. pmc Genetic segregation analysis of early-onset recurrent unipolar depression
    M L Marazita
    Cleft Palate Craniofacial Center, School of Dental Medicine, University of Pittsburgh, PA 15261, USA
    Am J Hum Genet 61:1370-8. 1997
    ..Under the broad-definition assumption, the best-fitting model is a Mendelian codominant major locus with significant residual parental and spousal effects...
  39. ncbi request reprint Bilateral asymmetry in Chinese families with cleft lip with or without cleft palate
    Katherine Neiswanger
    Department of Oral and Maxillofacial Surgery and Division of Oral Biology, School of Dental Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania 15219, USA
    Cleft Palate Craniofac J 42:192-6. 2005
    ..To determine if Chinese individuals with nonsyndromic cleft lip with or without cleft palate (CL/P) display more bilateral asymmetry than do their unaffected relatives...
  40. ncbi request reprint Anthropometric precision and accuracy of digital three-dimensional photogrammetry: comparing the Genex and 3dMD imaging systems with one another and with direct anthropometry
    Seth M Weinberg
    Center for Craniofacial and Dental Genetics, Department of Oral Medicine and Biology, School of Dental Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania 15219, USA
    J Craniofac Surg 17:477-83. 2006
    ..Results suggest that craniofacial surface data obtained by way of alternative 3D photogrammetric systems can be combined or compared statistically...
  41. ncbi request reprint Genome-wide linkage survey for genetic loci that influence the development of depressive disorders in families with recurrent, early-onset, major depression
    George S Zubenko
    Department of Psychiatry, University of Pittsburgh, School of Medicine, Pittsburgh, Pennsylvania 15213, USA
    Am J Med Genet B Neuropsychiatr Genet 123:1-18. 2003
    ....
  42. pmc Minor physical anomalies in schizophrenia: a meta-analysis
    Seth M Weinberg
    Center for Craniofacial and Dental Genetics, Department of Oral Biology, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA 15219, USA
    Schizophr Res 89:72-85. 2007
    ..05), although the pooled odds ratios for these regions did not differ significantly from one another. These results suggest a lack of regional specificity for MPAs in schizophrenia...
  43. pmc Maternal serum 25-hydroxyvitamin D concentrations are associated with small-for-gestational age births in white women
    Lisa M Bodnar
    Department of Epidemiology, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA 15261, USA
    J Nutr 140:999-1006. 2010
    ..One SNP in the VDR gene among white women and 3 SNP in black women were significantly associated with SGA. Our results suggest that vitamin D has a complex relation with fetal growth that may vary by race...
  44. pmc A genome wide linkage scan for cleft lip and palate and dental anomalies
    Alexandre R Vieira
    Department of Oral Biology, School of Dental Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania 15261, USA
    Am J Med Genet A 146:1406-13. 2008
    ..Our preliminary results support the hypothesis that some loci may contribute to both clefts and congenital dental anomalies. Also, adding dental anomalies information will provide new opportunities to map susceptibility loci for clefts...
  45. pmc Whorl patterns on the lower lip are associated with nonsyndromic cleft lip with or without cleft palate
    Katherine Neiswanger
    Center for Craniofacial and Dental Genetics, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA 14219, USA
    Am J Med Genet A 149:2673-9. 2009
    ..As such, they may eventually be useful in a clinical setting, allowing recurrence risk calculations to incorporate individual phenotypic information in addition to family history data...
  46. ncbi request reprint Orbicularis oris muscle defects as an expanded phenotypic feature in nonsyndromic cleft lip with or without cleft palate
    Katherine Neiswanger
    Center for Craniofacial and Dental Genetics, Department of Oral Biology, School of Dental Medicine, University of Pittsburgh, and Department of Pediatric Radiology, Children s Hospital of Pittsburgh, Pennsylvania 15219, USA
    Am J Med Genet A 143:1143-9. 2007
    ..Furthermore, the expansion of the cleft lip+/-cleft palate phenotypic spectrum should improve the power of genetic studies...
  47. ncbi request reprint Subclinical features in non-syndromic cleft lip with or without cleft palate (CL/P): review of the evidence that subepithelial orbicularis oris muscle defects are part of an expanded phenotype for CL/P
    Mary L Marazita
    Center for Craniofacial and Dental Genetics and Department of Oral Biology, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA, USA
    Orthod Craniofac Res 10:82-7. 2007
    ..This review summarizes the evidence that subepithelial (occult) defects of the superior orbicularis oris (OO) muscle represent the mildest form of the lip portion of CL/P...
  48. pmc Genome scan, fine-mapping, and candidate gene analysis of non-syndromic cleft lip with or without cleft palate reveals phenotype-specific differences in linkage and association results
    Mary L Marazita
    Department of Oral Biology, Center for Craniofacial and Dental Genetics, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA 15219, USA
    Hum Hered 68:151-70. 2009
    ..Non-syndromic orofacial clefts, i.e. cleft lip (CL) and cleft palate (CP), are among the most common birth defects. The goal of this study was to identify genomic regions and genes for CL with or without CP (CL/P)...
  49. ncbi request reprint Interferon regulatory factor 6 (IRF6) is associated with oral-facial cleft in individuals that originate in South America
    Alexandre R Vieira
    Department of Oral Biology and Center for Craniofacial and Dental Genetics, School of Dental Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania 15213, USA
    Am J Med Genet A 143:2075-8. 2007
  50. pmc Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts
    Alexandre R Vieira
    Department of 1Oral Biology, University of Pittsburgh, Pittsburgh, PA 15261, USA
    Genet Med 10:668-74. 2008
    ..Complete dental information was collected to test the hypothesis that dental anomalies are part of the cleft phenotype spectrum, and can provide new opportunities for identification of cleft susceptibility genes...
  51. ncbi request reprint Candidate genes for oral-facial clefts in Guatemalan families
    Katherine Neiswanger
    Center for Craniofacial and Dental Genetics, University of Pittsburgh, Pittsburgh, PA 15219, USA
    Ann Plast Surg 56:518-21; discussion 521. 2006
    ..02, broad). Association with JAG2 improved from P = 0.09 under the narrow definition to P = 0.04 under the broad definition. Broadening the oral-facial cleft phenotype to include subclinical variants may improve power in genetic studies...
  52. ncbi request reprint Dopamine system genes and attention deficit hyperactivity disorder: a meta-analysis
    Brion S Maher
    Division of Oral Biology, School of Dental Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania 15261, USA
    Psychiatr Genet 12:207-15. 2002
    ..Overall, the meta-analyses support the involvement of the dopamine system genes in ADHD liability variation and suggest the need for studies examining interactions between these genes...
  53. pmc A mutation in the SOS1 gene causes hereditary gingival fibromatosis type 1
    Thomas C Hart
    Center for Craniofacial and Dental Genetics, Division of Oral Biology and Pathology, University of Pittsburgh School of Dental Medicine, 614 Salk Hall, 3501 Terrace Street, Pittsburgh, PA 15261, USA
    Am J Hum Genet 70:943-54. 2002
    ..Clarification of the functional role of this SOS1 mutant has implications for understanding other forms of gingival fibromatosis and corrective gingival-tissue management...
  54. ncbi request reprint Genome-wide linkage survey for genetic loci that affect the risk of suicide attempts in families with recurrent, early-onset, major depression
    George S Zubenko
    Department of Psychiatry, University of Pittsburgh, School of Medicine, Pittsburgh, Pennsylvania, USA
    Am J Med Genet B Neuropsychiatr Genet 129:47-54. 2004
    ....
  55. ncbi request reprint Genetic linkage of region containing the CREB1 gene to depressive disorders in women from families with recurrent, early-onset, major depression
    George S Zubenko
    Department of Psychiatry, University of Pittsburgh, School of Medicine, Pennsylvania, USA
    Am J Med Genet 114:980-7. 2002
    ..The sex-specificity of the susceptibility locus identified by our study may result from reported synergistic interactions of CREB with nuclear estrogen receptors...
  56. ncbi request reprint Intraobserver error associated with measurements of the hand
    Seth M Weinberg
    Department of Anthropology, University of Pittsburgh, Pennsylvania 15260, USA
    Am J Hum Biol 17:368-71. 2005
    ..95). These results suggest that both total hand length and 3rd-digit length are sufficiently precise for anthropometric research applications...
  57. pmc Localisation of a gene for prepubertal periodontitis to chromosome 11q14 and identification of a cathepsin C gene mutation
    T C Hart
    Department of Oral Medicine Pathology, University of Pittsburgh, School of Dental Medicine, 614 Salk Hall, 3501 Terrace Street, Pittsburgh, PA 15261, USA
    J Med Genet 37:95-101. 2000
    ..This is the first reported gene mutation for non-syndromic periodontitis and shows that non-syndromic PPP is an allelic variant of the type IV palmoplantar ectodermal dysplasias...
  58. doi request reprint Rethinking isolated cleft palate: evidence of occult lip defects in a subset of cases
    Seth M Weinberg
    Center for Craniofacial and Dental Genetics, School of Dental Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania 15090, USA
    Am J Med Genet A 146:1670-5. 2008
    ..Such diagnostic errors could have important implications for recurrence risk estimation and studies aimed at discovering etiology. (c) 2008 Wiley-Liss, Inc...
  59. ncbi request reprint Genetic segregation analysis of alcohol and other substance-use disorders in families with recurrent, early-onset major depression
    Brion S Maher
    Division of Oral Biology, University of Pittsburgh, School of Dental Medicine, Pittsburgh, Pennsylvania, USA
    Am J Drug Alcohol Abuse 28:711-31. 2002
    ..The goal of this study was to conduct a complex segregation analysis of alcohol and other substance-use disorders in families identified by probands with recurrent, early-onset major depression (RE-MDD)...
  60. ncbi request reprint Hair whorls and handedness: informative phenotypic markers in nonsyndromic cleft lip with or without cleft palate (NS CL/P) cases and their unaffected relatives
    Nicole M Scott
    Center for Craniofacial and Dental Genetics, School of Dental Medicine, University of Pittsburgh, PA 15219, USA
    Am J Med Genet A 136:158-61. 2005
    ..These results suggest that certain phenotypic markers of abnormal brain development may comprise part of the extended phenotype of orofacial clefting...
  61. pmc Genome-wide association studies: prospects and challenges for oral health
    J R Shaffer
    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, 130 DeSoto St, A300 Crabtree Hall, Pittsburgh, PA 15260, USA
    J Dent Res 91:637-41. 2012
    ..e., hundreds of thousands to millions) of genetic variants for association. This article discusses the issues surrounding the GWAS approach with emphasis on the prospects and challenges relevant to the oral health research community...
  62. ncbi request reprint Segregation analysis of mandibular prognathism in Libya
    A A El-Gheriani
    Department of Human Genetics, Graduate School of Public Health, 500 Cellomics Bldg, University of Pittsburgh, 100 Technology Dr, Pittsburgh, PA 15219, USA
    J Dent Res 82:523-7. 2003
    ..Segregation analysis of a prognathic mandible in the entire dataset supported a transmissible Mendelian major effect, with a dominant mode of inheritance determined to be the most parsimonious...
  63. ncbi request reprint Demographic and prenatal factors of patients with cleft lip and cleft palate. A pilot study
    Shelly Abramowicz
    Department of Oral and Maxillofacial Surgery, University of Florida College of Dentistry, Gainesville, USA
    J Am Dent Assoc 134:1371-6. 2003
    ..The authors conducted this pilot study to investigate a study design that could allow for an evaluation of such etiologic factors by providing the required estimate of the projected magnitude of differences between cases and controls...
  64. ncbi request reprint Perceived social support of mothers of children with clefts
    Jessica R Sank
    Division of Oral Biology, School of Dental Medicine, University of Florida, FL, USA
    Cleft Palate Craniofac J 40:165-71. 2003
    ..To identify factors that may predict perceived social support in mothers of children with clefts...
  65. ncbi request reprint Asian oral-facial cleft birth prevalence
    Margaret E Cooper
    Center for Craniofacial and Dental Genetics, Department of Oral Biology, School of Dental Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania 15219, USA
    Cleft Palate Craniofac J 43:580-9. 2006
    ....
  66. pmc Possible association of amelogenin to high caries experience in a Guatemalan-Mayan population
    K Deeley
    Department of Oral Biology, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA 15261, USA
    Caries Res 42:8-13. 2008
    ..The approach of comparing individuals with extremely distinct caries experiences could be valuable for decreasing the potential influence of environmental factors on genetic studies of caries...
  67. ncbi request reprint Parental evaluation of informing interviews for cleft lip and/or palate
    Abigail L Byrnes
    Department of Genetics, Magee Womens Hospital, Pittsburgh, Pennsylvania, USA
    Pediatrics 112:308-13. 2003
    ..The analysis of these data was intended to help informants improve the way in which such conversations are conducted...
  68. doi request reprint A qualitative description of receiving a diagnosis of clefting in the prenatal or postnatal period
    Rachel Nusbaum
    Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA 15219, USA
    J Genet Couns 17:336-50. 2008
    ..Greater awareness of the parental experience of the timing of receiving a cleft diagnosis may assist health care professionals in providing care for these families...
  69. ncbi request reprint The Pittsburgh Fistula Classification System: a standardized scheme for the description of palatal fistulas
    Darren M Smith
    Children s Hospital of Pittsburgh, Division of Pediatric Plastic Surgery, and Center for Craniofacial and Dental Genetics, Department of Oral Biology, School of Dental Medicine, University of Pittsburgh, PA 15213, USA
    Cleft Palate Craniofac J 44:590-4. 2007
    ..We endeavor to devise a palatal fistula classification system that may have clinical and research applicability...
  70. ncbi request reprint Pittsburgh Registry of Infant Multiplets (PRIM): an update
    Elizabeth A Jenkins
    Department of Human Genetics, University of Pittsburgh, 707 Salk Hall, Pittsburgh, PA 15261, USA
    Twin Res Hum Genet 9:1006-8. 2006
    ..Pilot data on the heritability of minor physical anomalies and neuropsychological characteristics (Continuous Performance Test) are reported...
  71. ncbi request reprint Sudden infant death syndrome: association with a promoter polymorphism of the serotonin transporter gene
    Debra E Weese-Mayer
    Department of Pediatrics, Rush University, Rush Children s Hospital at Rush Presbyterian St Luke s Medical Center, 1653 West Congress Parkway, Chicago, IL 60612, USA
    Am J Med Genet A 117:268-74. 2003
    ....
  72. ncbi request reprint Association of the serotonin transporter gene with sudden infant death syndrome: a haplotype analysis
    Debra E Weese-Mayer
    Department of Pediatrics, Rush Children s Hospital at Rush Presbyterian St Luke s Medical Center, Rush University, 1653 West Congress Parkway, Chicago, IL 60612, USA
    Am J Med Genet A 122:238-45. 2003
    ....
  73. ncbi request reprint Studies of reduced folate carrier 1 (RFC1) A80G and 5,10-methylenetetrahydrofolate reductase (MTHFR) C677T polymorphisms with neural tube and orofacial cleft defects
    Alexandre R Vieira
    Am J Med Genet A 135:220-3. 2005
  74. ncbi request reprint Genome scan for loci involved in nonsyndromic cleft lip with or without cleft palate in families from West Bengal, India
    L Leigh Field
    Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada
    Am J Med Genet A 130:265-71. 2004
    ..The results are consistent with the involvement of multiple loci in CL/P expression in this West Bengal population, which concurs with results found in other CL/P study populations...
  75. ncbi request reprint In a Vietnamese population, MSX1 variants contribute to cleft lip and palate
    Yasushi Suzuki
    Second Department of Oral and Maxillofacial Surgery, School of Dentistry Aichi Gakuin University, Nagoya, Japan
    Genet Med 6:117-25. 2004
    ..To identify causes of nonsyndromic cleft lip and palate in a Vietnamese population...
  76. pmc Medical sequencing of candidate genes for nonsyndromic cleft lip and palate
    Alexandre R Vieira
    Department of Pediatrics, University of Iowa, Iowa City, Iowa, USA
    PLoS Genet 1:e64. 2005
    ..This study also illustrates the need to test large numbers of controls to distinguish rare polymorphic variants and prioritize functional studies for rare point mutations...
  77. ncbi request reprint 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
    ..We searched for a specific genetic factor contributing to this complex trait by examining large numbers of affected patients and families and evaluating a specific candidate gene...
  78. ncbi request reprint Sudden infant death syndrome: case-control frequency differences at genes pertinent to early autonomic nervous system embryologic development
    Debra E Weese-Mayer
    Department of Pediatrics, Rush Children s Hospital at Rush University Medical Center, Chicago, IL 60612, USA
    Pediatr Res 56:391-5. 2004
    ..These data represent further refinement of the genetic profile that might place an infant at risk for SIDS...
  79. ncbi request reprint 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
    ..This article contains supplementary material, which may be viewed at the American Journal of Medical Genetics website at http://www.interscience.wiley.com/jpages/0148-7299/suppmat/index.html...
  80. ncbi request reprint 3' UTR polymorphism of the serotonin transporter gene and sudden infant death syndrome: haplotype analysis
    Brion S Maher
    Am J Med Genet A 140:1453-7. 2006
  81. ncbi request reprint Sudden infant death syndrome: Case-control frequency differences in paired like homeobox (PHOX) 2B gene
    Casey M Rand
    Department of Pediatrics, Rush Children s Hospital at Rush University Medical Center, Chicago, Illinois 60612, USA
    Am J Med Genet A 140:1687-91. 2006
  82. ncbi request reprint Characterization of dermatoglyphics in PHOX2B-confirmed congenital central hypoventilation syndrome
    Emily S Todd
    Department of Pediatrics, Rush Children s Hospital at Rush University Medical Center, Chicago, Illinois 60612, USA
    Pediatrics 118:e408-14. 2006
    ....
  83. ncbi request reprint Facial phenotype in children and young adults with PHOX2B-determined congenital central hypoventilation syndrome: quantitative pattern of dysmorphology
    Emily S Todd
    Department of Pediatrics, Rush University Medical Center, Chicago, Illinois 60612, USA
    Pediatr Res 59:39-45. 2006
    ..These results suggest a characteristic facial phenotype in children and young adults with CCHS, due to an expansion mutation in PHOX2B...
  84. ncbi request reprint Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b
    Debra E Weese-Mayer
    Department of Pediatrics, Rush Children s Hospital at Rush Presbyterian St Luke s Medical Center, Rush University, Chicago, Illinois 60612, USA
    Am J Med Genet A 123:267-78. 2003
    ....
  85. pmc Impaired FGF signaling contributes to cleft lip and palate
    Bridget M Riley
    Department of Pediatrics, University of Iowa, Iowa City, IA 52242, USA
    Proc Natl Acad Sci U S A 104:4512-7. 2007
    ..The data suggest that the FGF signaling pathway may contribute to as much as 3-5% of NS CLP and will be a consideration in the clinical management of CLP...
  86. pmc Candidate gene and locus analysis of myopia
    Donald O Mutti
    College of Optometry, The Ohio State University, Columbus, OH 43210 1240, USA
    Mol Vis 13:1012-9. 2007
    ..We attempted to replicate these findings and to conduct a candidate gene and locus evaluation of genetic involvement in common forms of myopia...
  87. pmc X-chromosome inactivation patterns in monozygotic twins and sib pairs discordant for nonsyndromic cleft lip and/or palate
    Jane W Kimani
    Department of Pediatrics, University of Iowa, Iowa City, Iowa, USA
    Am J Med Genet A 143:3267-72. 2007
    ..However, results from the paired sister study suggest the potential contribution of skewed XCI to orofacial clefting, particularly cleft lip and palate...
  88. ncbi request reprint In pursuit (and discovery) of a genetic basis for congenital central hypoventilation syndrome
    Debra E Weese-Mayer
    Pediatric Respiratory Medicine at Rush Children s Hospital, Rush University Medical Center, 1653 West Congress Parkway, Chicago, IL 60612, USA
    Respir Physiol Neurobiol 149:73-82. 2005
    ....
  89. doi request reprint The use of ultrasound to visualize the upper lips of noncleft and repaired-cleft individuals
    Seth M Weinberg
    Cleft Palate Craniofac J 44:683-4; author reply 685. 2007
  90. ncbi request reprint A specific requirement for PDGF-C in palate formation and PDGFR-alpha signaling
    Hao Ding
    Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Canada
    Nat Genet 36:1111-6. 2004
    ..Our results also show that PDGF-C signaling is a new pathway in palatogenesis, different from, and independent of, those previously implicated...
  91. ncbi request reprint Sudden Infant Death Syndrome: review of implicated genetic factors
    Debra E Weese-Mayer
    Department of Pediatrics, Rush University Medical Center, Chicago, Illinois, USA
    Am J Med Genet A 143:771-88. 2007
    ....
  92. ncbi request reprint Nicotine metabolizing genes GSTT1 and CYP1A1 in sudden infant death syndrome
    Casey M Rand
    Department of Pediatrics, Rush Children s Hospital at Rush University Medical Center, 1653 West Congress Parkway, Chicago, IL 60612, USA
    Am J Med Genet A 140:1447-52. 2006
    ..A prospective study of SIDS cases with nicotine exposure history is necessary to resolve the relationship between nicotine metabolizing genes and SIDS...
  93. pmc Evaluation of fetal and maternal genetic variation in the progesterone receptor gene for contributions to preterm birth
    Nicole L Ehn
    Department of Pediatrics, University of Iowa, Iowa City, Iowa 52242, USA
    Pediatr Res 62:630-5. 2007
    ..No etiologic sequence variants were found in the coding sequence of the PGR gene. This study suggests that genetic variation in the PGR gene of either the mother or the fetus may trigger preterm labor...