Search Results - "Field, L Leigh"
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Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate
Published in Human genetics (01-03-2017)“…Nonsyndromic orofacial clefts (OFCs) are a heterogeneous group of common craniofacial birth defects with complex etiologies that include genetic and…”
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Whole exome sequencing of distant relatives in multiplex families implicates rare variants in candidate genes for oral clefts
Published in Genetics (Austin) (01-07-2014)“…A dozen genes/regions have been confirmed as genetic risk factors for oral clefts in human association and linkage studies, and animal models argue even more…”
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Variation in Antiviral 2′,5′-Oligoadenylate Synthetase (2′5′AS) Enzyme Activity Is Controlled by a Single-Nucleotide Polymorphism at a Splice-Acceptor Site in the OAS1 Gene
Published in American journal of human genetics (01-04-2005)“…It is likely that human genetic differences mediate susceptibility to viral infection and virus-triggered disorders. OAS genes encoding the antiviral enzyme…”
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Association studies of low‐frequency coding variants in nonsyndromic cleft lip with or without cleft palate
Published in American journal of medical genetics. Part A (01-06-2017)“…Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a group of common human birth defects with complex etiology. Although genome‐wide association…”
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Interferon Regulatory Factor 6 (IRF6) Gene Variants and the Risk of Isolated Cleft Lip or Palate
Published in The New England journal of medicine (19-08-2004)“…Cleft lip, cleft palate, or the combination of the two is a complex disorder caused by the interaction of several genes and possibly environmental factors. In…”
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Identification of 16q21 as a modifier of nonsyndromic orofacial cleft phenotypes
Published in Genetic epidemiology (01-12-2017)“…ABSTRACT Orofacial clefts (OFCs) are common, complex birth defects with extremely heterogeneous phenotypic presentations. Two common subtypes—cleft lip alone…”
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Induction and activation of antiviral enzyme 2′,5′-oligoadenylate synthetase by in vitro transcribed insulin mRNA and other cellular RNAs
Published in Molecular biology reports (01-07-2012)“…Double-stranded RNA (dsRNA) can induce antiviral enzyme 2′,5′-oligoadenylate synthetase (2′5′AS) expression and activate latent 2′5′AS. Our previous data have…”
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OAS1 Splice Site Polymorphism Controlling Antiviral Enzyme Activity Influences Susceptibility to Type 1 Diabetes
Published in Diabetes (New York, N.Y.) (01-05-2005)“…OAS1 Splice Site Polymorphism Controlling Antiviral Enzyme Activity Influences Susceptibility to Type 1 Diabetes L. Leigh Field 1 , Vagn Bonnevie-Nielsen 2 ,…”
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The PDGF-C regulatory region SNP rs28999109 decreases promoter transcriptional activity and is associated with CL/P
Published in European journal of human genetics : EJHG (01-06-2009)“…Human linkage and association studies suggest a gene(s) for nonsyndromic cleft lip with or without cleft palate (CL/P) on chromosome 4q31-q32 at or near the…”
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A multi-ethnic genome-wide association study identifies novel loci for non-syndromic cleft lip with or without cleft palate on 2p24.2, 17q23 and 19q13
Published in Human molecular genetics (01-07-2016)“…Orofacial clefts (OFCs), which include non-syndromic cleft lip with or without cleft palate (CL/P), are among the most common birth defects in humans,…”
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A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4
Published in Nature genetics (01-06-2010)“…Case-parent trios were used in a genome-wide association study of cleft lip with and without cleft palate. SNPs near two genes not previously associated with…”
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X-chromosome inactivation patterns in monozygotic twins and sib pairs discordant for nonsyndromic cleft lip and/or palate
Published in American journal of medical genetics. Part A (15-12-2007)“…Nonsyndromic clefts of the lip and/or palate are common birth defects with a strong genetic component. Based on unequal gender ratios for clefting phenotypes,…”
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Association of low‐frequency genetic variants in regulatory regions with nonsyndromic orofacial clefts
Published in American journal of medical genetics. Part A (01-03-2019)“…Genome‐wide scans have shown that common risk alleles for orofacial clefts (OFC) tend to be located in noncoding regulatory elements and cumulatively explain…”
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Genome‐wide interaction studies identify sex‐specific risk alleles for nonsyndromic orofacial clefts
Published in Genetic epidemiology (01-10-2018)“…Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is the most common craniofacial birth defect in humans and is notable for its apparent sexual…”
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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
Published in Human heredity (01-01-2009)“…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…”
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Meta-Analysis of 13 Genome Scans Reveals Multiple Cleft Lip/Palate Genes with Novel Loci on 9q21 and 2q32-35
Published in American journal of human genetics (01-08-2004)“…Isolated or nonsyndromic cleft lip with or without cleft palate (CL/P) is a common birth defect with a complex etiology. A 10-cM genome scan of 388 extended…”
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Confirmation of a dyslexia susceptibility locus on chromosome 1p34-p36 in a set of 100 Canadian families
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (15-05-2004)“…Dyslexia is a common and genetically complex trait that manifests primarily as a reading disability independent of general intelligence and educational…”
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Genome Scan for Loci Involved in Cleft Lip With or Without Cleft Palate, in Chinese Multiplex Families
Published in American journal of human genetics (01-08-2002)“…Cleft lip with or without cleft palate (CL/P) is a common congenital anomaly. Birth prevalences range from 1/500 to 1/1,000 and are consistently higher in…”
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Localization of a gene for incomplete X-linked congenital stationary night blindness to the interval between DXS6849 and DXS8023 in Xp11.23
Published in Human genetics (01-08-1998)“…Congenital stationary night blindness (CSNB) is a nonprogressive retinal disorder characterized by night blindness, nystagmus, myopia, a variable decrease in…”
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A dyslexia susceptibility locus (DYX7) linked to dopamine D4 receptor (DRD4) region on chromosome 11p15.5
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (15-02-2004)“…Dyslexia is a disability in acquiring reading and spelling skills that is independent of general intelligence and educational opportunity, and is highly…”
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