Genetic approaches to identify disease genes for birth defects with cleft lip/palate as a model.

No abstract is available for this paper.

• Publication year

  2004

• Venue

  Birth defects research. Clinical and molecular teratology

• Publication date

  2004-12-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1002/BDRA.20096PMID 15578714
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Embryology of the Head and Neck

  2005cited by this paper
• [International HapMap project].

  2005cited by this paper
• A tiling resolution DNA microarray with complete coverage of the human genome

  2004cited by this paper
• In a Vietnamese population, MSX1 variants contribute to cleft lip and palate

  2004cited by this paper
• Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy

  2004cited by this paper
• Long term follow up study of survival associated with cleft lip and palate at birth

  2004cited by this paper
• Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35.

  2004cited by this paper
• Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium.

  2004cited by this paper
• Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate.

  2004cited by this paper
• Cleft palate: players, pathways, and pursuits.

  2004cited by this paper
• The International HapMap Project

  2003cited by this paper
• A genome‐wide scan for loci predisposing to non‐syndromic cleft lip with or without cleft palate in two large Syrian families

  2003cited by this paper
• Evidence for linkage of nonsyndromic cleft lip with or without cleft palate to a region on chromosome 2

  2003cited by this paper
• The Stickler syndrome: Genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1

  2003cited by this paper
• Comparative analyses of multi-species sequences from targeted genomic regions

  2003cited by this paper
• Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate

  2003cited by this paper
• Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans

  2003cited by this paper
• Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome

  2003cited by this paper
• Single nucleotide polymorphic alleles in the 5′ region of the RET proto-oncogene define a risk haplotype in Hirschsprung’s disease

  2003cited by this paper
• Recent Developments in Orofacial Cleft Genetics

  2003cited by this paper
• Methods for genotyping single nucleotide polymorphisms.

  2003cited by this paper
• Identification of SATB2 as the cleft palate gene on 2q32-q33.

  2003cited by this paper
• Functional haplotypes of the RET proto-oncogene promoter are associated with Hirschsprung disease (HSCR).

  2003cited by this paper
• Genome architecture catalyzes nonrecurrent chromosomal rearrangements.

  2003cited by this paper
• A putative RUNX1 binding site variant between SLC9A3R1 and NAT9 is associated with susceptibility to psoriasis

  2003cited by this paper
• A user's guide to the human genome

  2003cited by this paper
• Coding haplotype analysis supports HCR as the putative susceptibility gene for psoriasis at the MHC PSORS1 locus.

  2002cited by this paper
• A user's guide to the human genome

  2002cited by this paper
• The Role of MSX1 in Human Tooth Agenesis

  2002cited by this paper
• BeadArray technology: enabling an accurate, cost-effective approach to high-throughput genotyping.

  2002cited by this paper
• Gene/environment causes of cleft lip and/or palate

  2002cited by this paper
• Genome scan for loci involved in cleft lip with or without cleft palate, in Chinese multiplex families.

  2002cited by this paper
• Multiplex relative risk and estimation of the number of loci underlying an inherited disease.

  2002cited by this paper
• The Structure of Haplotype Blocks in the Human Genome

  2002cited by this paper
• Genetic origins in a South American clefting population

  2002cited by this paper
• The allelic architecture of human disease genes: common disease-common variant...or not?

  2002cited by this paper
• Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly

  2002cited by this paper
• Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes

  2002cited by this paper
• A nonsense mutation in MSX1 causes Witkop syndrome.

  2001cited by this paper
• “Only Skin Deep”: Health, Resilience, and Craniofacial Care

  2001cited by this paper
• Clinical heterogeneity in lymphoedema-distichiasis withFOXC2 truncating mutations

  2001cited by this paper
• The genetics and epigenetics of orofacial clefts

  2001cited by this paper
• Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: An update and literature review

  2001cited by this paper
• The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia

  2001cited by this paper
• MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans

  2000cited by this paper
• Identification of susceptibility loci for nonsyndromic cleft lip with or without cleft palate in a two stage genome scan of affected sib-pairs

  2000cited by this paper
• Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus

  2000cited by this paper
• Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia

  2000cited by this paper
• Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome

  2000cited by this paper
• High-throughput SNP allele-frequency determination in pooled DNA samples by kinetic PCR.

  2000cited by this paper
• The many faces and factors of orofacial clefts.

  1999cited by this paper
• Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome.

  1999cited by this paper
• Assessment of linkage disequilibrium by the decay of haplotype sharing, with application to fine-scale genetic mapping.

  1999cited by this paper
• A chromosomal duplication map of malformations: regions of suspected haplo- and triplolethality--and tolerance of segmental aneuploidy--in humans.

  1999cited by this paper
• A chromosomal deletion map of human malformations.

  1998cited by this paper
• Comprehensive human genetic maps: individual and sex-specific variation in recombination.

  1998cited by this paper
• High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays

  1998cited by this paper
• Association of MSX1 and TGFB3 with nonsyndromic clefting in humans.

  1998cited by this paper
• Characterization of a novel gene disrupted by a balanced chromosomal translocation t(2;19)(q11.2;q13.3) in a family with cleft lip and palate.

  1998cited by this paper
• Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia

  1998cited by this paper
• Estimating African American admixture proportions by use of population-specific alleles.

  1998cited by this paper
• Clinical and Epidemiologic Studies of Cleft up and Palate in the Philippines

  1997cited by this paper
• Application of transmission disequilibrium tests to nonsyndromic oral clefts: including candidate genes and environmental exposures in the models.

  1997cited by this paper
• Clinical and epidemiologic studies of cleft lip and palate in the Philippines.

  1997cited by this paper
• Complex segregation analysis of facial clefting in Chile.

  1997cited by this paper
• Transforming growth factor α locus and nonsyndromic cleft lip with or without cleft palate: A reappraisal

  1997cited by this paper
• Analysis of the recurrence patterns for nonsyndromic cleft lip with or without cleft palate in the families of 3,073 Danish probands.

  1996cited by this paper
• Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome

  1996cited by this paper
• Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome.

  1996cited by this paper
• First year-of-life mortality among infants with oral clefts: New York State, 1983-1990.

  1996cited by this paper
• Genetics of nonsyndromic oral clefts revisited.

  1996cited by this paper
• Familial recurrence-pattern analysis of nonsyndromic isolated cleft palate--a Danish Registry study.

  1996cited by this paper
• A human MSX1 homeodomain missense mutation causes selective tooth agenesis

  1996cited by this paper
• The Future of Genetic Studies of Complex Human Diseases

  1996cited by this paper
• Polymorphisms and phyletic relationships of the Paisa community from Antioquia (Colombia).

  1996cited by this paper
• Polymorphisms and phyletic relationships of the Paisa community from Antioquia (Colombia).

  1996cited by this paper
• Mapping disease genes: family-based association studies.

  1995cited by this paper
• Face facts: genes, environment, and clefts.

  1995cited by this paper
• Lods, wrods, and mods: The interpretation of lod scores calculated under different models

  1994cited by this paper
• A comprehensive human linkage map with centimorgan density. Cooperative Human Linkage Center (CHLC).

  1994cited by this paper
• Evidence for a microdeletion in 1q32-41 involving the gene responsible for Van der Woude syndrome.

  1994cited by this paper
• The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping.

  1994cited by this paper
• Nonsyndromic cleft lip with or without cleft palate in west Bengal, India: evidence for an autosomal major locus.

  1993cited by this paper
• Cleft lip (+/- cleft palate) in Danish twins, 1970-1990.

  1993cited by this paper
• Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM).

  1993cited by this paper
• First-year mortality among infants with facial clefts.

  1992cited by this paper
• Familial recurrence-pattern analysis of cleft lip with or without cleft palate.

  1992cited by this paper
• Linkage strategies for genetically complex traits. II. The power of affected relative pairs.

  1990cited by this paper
• Palate development.

  1988cited by this paper
• Incidence of cleft lip, cleft palate, and cleft lip and palate among races: a review.

  1987cited by this paper
• Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children.

  1987cited by this paper
• Linkage and association.

  1984cited by this paper
• The load of genetic and partially genetic disorders in man. I. Congenital anomalies: estimates of detriment in terms of years of life lost and years of impaired life.

  1984cited by this paper
• Cleft lip+/-cleft palate: an overview of the literature and an analysis of Danish cases born between 1941 and 1968.

  1980cited by this paper
• Incidence rates for cleft lip and palate in British Columbia 1952-71 for North American Indian, Japanese, Chinese and total populations: secular trends over twenty years.

  1977cited by this paper
• Syndromes of the Head and Neck

  1976cited by this paper

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  2025cites this paper
• Towards a Modernized Framework of Histology Teaching to Integrate Genetics: Pedagogical Perspectives for Oral Histology

  2025cites this paper
• Special electromyographic features in a child with paramyotonia congenita: A case report and review of literature

  2024cites this paper
• Lippen-Kiefer-Gaumen-Spalte

  2023cites this paper
• Lippen-Kiefer-Gaumen-Spalte

  2023cites this paper
• Orofacial Cleft and Mandibular Prognathism—Human Genetics and Animal Models

  2022cites this paper
• Genetic Factors Responsible for Cleft Lip and Palate

  2022cites this paper
• Netrins: Evolutionarily Conserved Regulators of Epithelial Fusion and Closure in Development and Wound Healing

  2021cites this paper
• Impact of Parental Consanguinity on the Frequency of Orofacial Clefts in Jordan

  2021cites this paper
• Biologic basis of cleft palate and palatal surgery

  2020cites this paper
• Emerging applications of 3D printing in nasoalveolar molding therapy: a narrative review

  2019cites this paper
• [Analysis of single-nucleotide polymorphism of Sonic hedgehog signaling pathway in non-syndromic cleft lip and/or palate in the Chinese population].

  2019cites this paper
• Associated Malformations in Children with Orofacial Clefts in Portugal: A 31-Year Study

  2018cites this paper
• FZD 6 , MATN 2 AND SLC 25 A 32 , POSSIBLE CANDIDATE GENES IN NONSYNDROMIC CLEFT LIP AND PALATE by Nevena Cvjetkovic

  2017cites this paper
• Association between PAX7 and NTN1 gene polymorphisms and nonsyndromic orofacial clefts in a northern Chinese population

  2017cites this paper
• A pilot study: Screening target miRNAs in tissue of nonsyndromic cleft lip with or without cleft palate.

  2017cites this paper
• Polymorphic variants in VAX1 and the risk of nonsyndromic cleft lip with or without cleft palate in a population from northern China

  2017cites this paper
• Novel IRF6 Mutations Detected in Orofacial Cleft Patients by Targeted Massively Parallel Sequencing

  2017cites this paper
• Right Technique, Right Time: A Retrospective Analysis on Dental Arch Relationships for Patients with Total Unilateral Cleft Lip and Palate. A Comparison between Early and Late Closure of the Hard Palate.

  2017cites this paper
• Is MTHFD 1 polymorphisms rs 2236225 ( c . 1958 G > A ) associated with the susceptibility of NSCL / P ? A systematic review and meta-analysis

  2016cites this paper
• Developmental Disorders of the Craniofacial Complex

  2016cites this paper
• Is MTHFD 1 polymorphism rs 2236225 ( c . 1958 G > A ) associated with the susceptibility of NSCL / P ? A systematic review and meta-analysis

  2016cites this paper
• Molecular Strategies in the Study and Repair of Palatal Defects

  2015cites this paper
• Regulatory variant in FZD6 gene contributes to nonsyndromic cleft lip and palate in an African-American family

  2015cites this paper
• Is MTHFD1 polymorphism rs 2236225 (c.1958G>A) associated with the susceptibility of NSCL/P? A systematic review and meta-analysis

  2015cites this paper
• DUDAK DAMAK YARIĞI ETYOLOJİSİNDE GENLERİN VE GEN-ÇEVRE ETKİLEŞİMİNİN ROLÜ

  2015cites this paper
• Candidate Gene Predictions: Bioinformatics Significance in Linkage Analysis

  2015cites this paper
• Developing a tissue engineering strategy for cleft palate repair

  2014cites this paper
• Nutrition and Genes Associated With Orofacial Cleft Birth Defects in Utah

  2014cites this paper
• Oral Health–Related Quality of Life in Children with Orofacial Clefts

  2013cites this paper
• The effect of sevoflurane on developing A/J strain mouse embryos using a whole-embryo culture system—the incidence of cleft lip in culture embryos

  2013cites this paper
• Association and cumulative effects of GWAS‐identified genetic variants for nonsyndromic orofacial clefts in a Chinese population

  2013cites this paper
• Acknowledgments / The Authors

  2013cites this paper
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  2013cites this paper
• PDGFRa mutations in humans with isolated cleft palate

  2012cites this paper
• BMP4 Was Associated with NSCL/P in an Asian Population

  2012cites this paper
• Roles of BMP signaling pathway in lip and palate development.

  2012cites this paper
• Examining cleft lip and palate as a lifelong disease: genetic investigation of causes and outcomes

  2012cites this paper
• Chapter 35 – Biologic basis of cleft palate and palatal surgery

  2012cites this paper
• FZD6, MATN2 AND SLC25A32, POSSIBLE CANDIDATE GENES IN NONSYNDROMIC CLEFT LIP AND PALATE

  2012cites this paper
• Different roles of two novel susceptibility loci for nonsyndromic orofacial clefts in a Chinese Han population.

  2011cites this paper
• Gene Discovery in Nonsyndromic Cleft Lip with or without Cleft Palate

  2011cites this paper
• The effects of disease mutations on the transcription factor Interferon Regulatory Factor 6

  2011influential citation
• Genetic predisposition to nonsyndromic orofacial clefts

  2011influential citation
• Oral Health-Related Quality of Life in Children with Orofacial Clefts

  2011cites this paper
• Mutations in the ribosomal protein genes in Japanese patients with Diamond-Blackfan anemia

  2010cites this paper
• Genome-wide and interaction linkage scan for nonsyndromic cleft lip with or without cleft palate in two multiplex families in Shenyang, China.

  2010cites this paper
• Palate morphogenesis: current understanding and future directions.

  2010cites this paper
• Chromosomal Abnormalities in Finnish Orofacial Cleft Patients: Excess of Submucous Cleft Patients?

  2010cites this paper
• Association between genetic variants of reported candidate genes or regions and risk of cleft lip with or without cleft palate in the polish population.

  2010cites this paper
• IRF6 polymorphisms are associated with nonsyndromic orofacial clefts in a Chinese Han population

  2010cites this paper
• MTHFR and MSX1 contribute to the risk of nonsyndromic cleft lip/palate.

  2010cites this paper
• Association between IRF6 SNPs and Oral Clefts in West China

  2009cites this paper
• Avaliação de pacientes com sequência de Robin no pós-operatório imediato após palatoplastia primário

  2009cites this paper
• Maternal caffeine intake during pregnancy and orofacial clefts.

  2009cites this paper
• The genetics of isolated orofacial clefts: from genotypes to subphenotypes.

  2009cites this paper
• Genetic Determinants of Facial Clefting: Analysis of 357 Candidate Genes Using Two National Cleft Studies from Scandinavia

  2009cites this paper
• A genome wide linkage scan for cleft lip and palate and dental anomalies

  2008cites this paper
• Individual Susceptibility and Gene–Environment Interaction

  2008cites this paper
• Familial non-syndromic cleft lip and palate--analysis of the IRF6 gene and clinical phenotypes.

  2008influential citation
• Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts

  2008cites this paper
• Regeneration in medicine: a plastic surgeons "tail" of disease, stem cells, and a possible future.

  2008cites this paper
• Ethical issues raised by incorporation of genetics into the National Birth Defects Prevention Study

  2008cites this paper
• Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.

  2008cites this paper
• Familial risk of oral clefts by morphological type and severity: population based cohort study of first degree relatives

  2008cites this paper
• Craniofacial shape and dimensions as indicators of orofacial clefting and palatal form : a study on cleft lip and palate and Turner syndrome families

  2008cites this paper
• Characteristics of oral cleft phenotypes : epidemiological and genetic studies in Norway

  2007cites this paper
• Context for Filipino community based orofacial cleft prevention interventions

  2007influential citation
• Anomalias dentárias como extensão fenotípica das fissuras orais: estudos moleculares de genes e regiões candidatas

  2007cites this paper
• Association between IRF6 and nonsyndromic cleft lip with or without cleft palate in four populations

  2007cites this paper
• Application of Pharmacogenomic Strategies to the Study of Drug‐induced Birth Defects

  2007cites this paper
• Congenital diaphragmatic hernia (CDH) etiology as revealed by pathway genetics

  2007cites this paper
• A genome‐wide linkage scan for cleft lip and cleft palate identifies a novel locus on 8p11‐23

  2007cites this paper
• Associated anomalies in multi‐malformed infants with cleft lip and palate: An epidemiologic study of nearly 6 million births in 23 EUROCAT registries

  2007cites this paper
• Estudo do gene IRF6 em uma amostra de pacientes portadores de fissuras labiopalatinas não-sindrômicas por meio da triagem de mutação por sequenciamento automático

  2007cites this paper
• Three -dimensional morphometric analysis of the craniofacial complex in the unaffected relatives of individuals with nonsyndromic orofacial clefts

  2007cites this paper
• Contributions of PTCH Gene Variants to Isolated Cleft Lip and Palate

  2006cites this paper
• Development of the upper lip: Morphogenetic and molecular mechanisms

  2006cites this paper
• Patient with syndromic cleft lip-palate , mosaic karyotype and cytogenetically abnormal brother

  2006cites this paper
• Analysis of candidate genes on chromosome 2 in oral cleft case-parent trios from three populations

  2006influential citation
• Molecular characterization of a novel translocation t(5;14)(q21;q32) in a patient with congenital abnormalities

  2006cites this paper
• Orofacial clefting: recent insights into a complex trait.

  2005cites this paper
• High throughput SNP and expression analyses of candidate genes for non-syndromic oral clefts

  2005cites this paper
• Gene-environment interactions in rare diseases that include common birth defects.

  2005cites this paper
• Progress toward discerning the genetics of cleft lip

  2005cites this paper