Skip to main content
Article thumbnail
Location of Repository

Genetic Determinants of Facial Clefting: Analysis of 357 Candidate Genes Using Two National Cleft Studies from Scandinavia

By Astanand Jugessur, Min Shi, Håkon Kristian Gjessing, Rolv Terje Lie, Allen James Wilcox, Clarice Ring Weinberg, Kaare Christensen, Abee Lowman Boyles, Sandra Daack-Hirsch, Truc Nguyen Trung, Camilla Bille, Andrew Carl Lidral and Jeffrey Clark Murray
Topics: Research Article
Publisher: Public Library of Science
OAI identifier:
Provided by: PubMed Central
Download PDF:
Sorry, we are unable to provide the full text but you may find it at the following location(s):
  • http://www.pubmedcentral.nih.g... (external link)
  • Suggested articles


    1. (1998). A chromosomal deletion map of human malformations.
    2. (1999). A chromosomal duplication map of malformations: regions of suspected haploandtriplolethality–and toleranceofsegmentalaneuploidy–inhumans.AmJHum
    3. (2007). A dosage-dependent role for Spry2 in growth and patterning during palate development.
    4. (1994). A population-based study of the risk of recurrence of birth defects.
    5. (2004). A specific requirement for PDGF-C in palate formation and PDGFR-alpha signaling.
    6. (2006). Abnormal skin, limb and craniofacial morphogenesis in mice deficient for interferon regulatory factor 6
    7. (2008). Analysis of Zfhx1a mutant mice reveals palatal shelf contact-independent medial edge epithelial differentiation during palate fusion.
    8. (2004). Association of chromosomal regions 3p21.2, 10p13, and 16p13.3 with nonsyndromic cleft lip and palate.
    9. (1989). Association of genetic variation of the transforming growth factor- alpha gene with cleft lip and palate.
    10. (2002). Association studies.
    11. (2006). Case-parent triads: estimating single- and doubledose effects of fetal and maternal disease gene haplotypes. Annals of human genetics.
    12. (2005). Changing lifestyles and oral clefts occurrence in Denmark.
    13. (2008). Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project.
    14. (2007). Comprehensive analysis of animal TALE homeobox genes: new conserved motifs and cases of accelerated evolution.
    15. (2006). Core Team
    16. (2007). CRISPLD2: a novel NSCLP candidate gene.
    17. (1998). DeltaEF1, a zinc finger and homeodomain transcription factor, is required for skeleton patterning in multiple lineages.
    18. (1998). Detecting marker-disease association by testing for Hardy-Weinberg disequilibrium at a marker locus.
    19. (2003). Detecting population stratification using a panel of single nucleotide polymorphisms.
    20. (1985). Development of human craniofacial morphology during the late embryonic and early fetal periods.
    21. (2006). Developmental expression analysis of the mouse and chick orthologues of IRF6: the gene mutated in Van der Woude syndrome.
    22. (2004). Developmental gene expression profiling of mammalian, fetal orofacial tissue.
    23. (2008). Disruption of an AP-2a binding site in an IRF6 enhancer is strongly associated with cleft lip. Nat Genet,
    24. (2005). Efficiency and power in genetic association studies.
    25. (2002). Epidemiology of oral clefts: an international perspective.
    26. (1995). Evidence for an association between nonsyndromic cleft lip with or without cleft palate and a gene located on the long arm of chromosome 4.
    27. (2001). Expression patterns of group-I aristaless-related genes during craniofacial and limb development.
    28. (2006). Expression profiles of cIRF6, cLHX6 and cLHX7 in the facial primordia suggest specific roles during primary palatogenesis.
    29. (2008). Familial risk of oral clefts by morphological type and severity: population based cohort study of first degree relatives.
    30. (2007). FGF signalling and SUMO modification: new players in the aetiology of cleft lip and/or palate.
    31. (2006). FGF signalling in craniofacial development and developmental disorders.
    32. (2008). First-Trimester Maternal Alcohol Consumption and the Risk of Infant Oral Clefts in Norway: A Population-based Case-Control Study.
    33. (2007). Folic acid supplements and risk of facial clefts: national population based case-control study.
    34. (2005). Gene expression in pharyngeal arch 1 during human embryonic development.
    35. (2004). Genetic approaches to identify disease genes for birth defects with cleft lip/palate as a model.
    36. (2004). Genetic mapping and ENU mutagenesis.
    37. (2008). Genetic variants in IRF6 and the risk of facial clefts: single-marker and haplotype-based analyses in a population-based case-control study of facial clefts in Norway.
    38. (2002). Genome scan for loci involved in cleft lip with or without cleft palate, in Chinese multiplex families.
    39. (2009). 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. Human Heredity, In press.
    40. (2008). Genome-wide association studies for complex traits: consensus, uncertainty and challenges.
    41. (2005). Genomic, cDNA and embryonic expression analysis of zebrafish IRF6, the gene mutated in the human oral clefting disorders Van der Woude and popliteal pterygium syndromes.
    42. (2005). Haploview: analysis and visualization of LD and haplotype maps.
    43. (2006). High throughput SNP and expression analyses of candidate genes for non-syndromic oral clefts.
    44. (2006). Identification and developmental expression analysis of a novel homeobox gene closely linked to the mouse Twirler mutation.
    45. (2005). Identification of markers of the midface.
    46. (2007). Identification of Risk-Related Haplotypes with the Use of Multiple SNPs from Nuclear Families.
    47. (2007). Impaired FGF signaling contributes to cleft lip and palate.
    48. (2005). Interaction between the ADH1C polymorphism and maternal alcohol intake in the risk of nonsyndromic oral clefts: an evaluation of the contribution of child and maternal genotypes.
    49. (2006). Irf6 is a key determinant of the keratinocyte proliferation-differentiation switch.
    50. (2005). Medical sequencing of candidate genes for nonsyndromic cleft lip and palate.
    51. (2004). Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35.
    52. (2008). Methods for handling multiple testing.
    53. (2003). Mice lacking ZFHX1B, the gene that codes for Smad-interacting protein-1, reveal a role for multiple neural crest cell defects in the etiology of Hirschsprung disease-mental retardation syndrome.
    54. (2003). Microarray analysis of murine palatogenesis: temporal expression of genes during normal palate development.
    55. (2003). Minimal haplotype tagging.
    56. (2006). Mohawk is a novel homeobox gene expressed in the developing mouse embryo.
    57. (1998). Mouse Alx3: an aristaless-like homeobox gene expressed during embryogenesis in ectomesenchyme and lateral plate mesoderm.
    58. (2006). mouse embryo and their genetic interaction revealed by compound mutants.
    59. (2007). Mowat-Wilson syndrome.
    60. (2002). Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes.
    61. (2008). Oral facial clefts and gene polymorphisms in metabolism of folate/one-carbon and vitamin A: a pathway-wide association study. Genet Epidemiol,
    62. (2005). Orofacial clefting: recent insights into a complex trait.
    63. (2006). PDGF-C controls proliferation and is downregulated by retinoic acid in mouse embryonic palatal mesenchymal cells.
    64. (1998). PedCheck: a program for identification of genotype incompatibilities in linkage analysis.
    65. (1982). Plots of P-values to evaluate many tests simultaneously.
    66. (1994). Possible localization of a major gene for cleft lip and palate to 4q.
    67. (2005). Progress toward discerning the genetics of cleft lip.
    68. (2005). Rational inferences about departures from Hardy-Weinberg equilibrium.
    69. (2001). Replication validity of genetic association studies.
    70. (2007). Sequence evaluation of FGF and FGFR gene conserved non-coding elements in non-syndromic cleft lip and palate cases.
    71. (2001). Severe nasal clefting and abnormal embryonic apoptosis in Alx3/Alx4 double mutant mice.
    72. (2003). Stata Statistical Software: Release 8.0.
    73. (1958). Statistical Methods for Research Workers.
    74. (1996). The future of genetic studies of complex human diseases.
    75. (1986). The gamma 1 and gamma 2 subunits of human liver alcohol dehydrogenase. cDNA structures, two amino acid replacements, and compatibility with changes in the enzymatic properties.
    76. (2007). The genetics of alcohol metabolism: role of alcohol dehydrogenase and aldehyde dehydrogenase variants.
    77. (2008). The PDGFC regulatory region SNP rs28999109 decreases promoter transcriptional activity and is associated with CL/P.
    78. (2003). Using haplotype blocks to map human complex trait loci.
    79. (1999). Vertebrate aristaless-related genes.

    To submit an update or takedown request for this paper, please submit an Update/Correction/Removal Request.