Whole genomewide linkage screen for neural tube defects reveals regions of interest on chromosomes 7 and 10

No abstract is available for this paper.

• Publication year

  2005

• Venue

  Journal of Medical Genetics

• Publication date

  2005-04-14

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1136/jmg.2005.031658PMID 15831595PMCID PMC1735960
• 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.

• Methods of Genotyping

  2005cited by this paper
• Potential for expanded power in linkage studies using the ALLEGRO and MERLIN software programs

  2005cited by this paper
• SNPs in the neural cell adhesion molecule 1 gene (NCAM1) may be associated with human neural tube defects

  2005cited by this paper
• A 3.9-centimorgan-resolution human single-nucleotide polymorphism linkage map and screening set.

  2003cited by this paper
• The genetic basis of mammalian neurulation

  2003cited by this paper
• The concerted action of Meox homeobox genes is required upstream of genetic pathways essential for the formation, patterning and differentiation of somites

  2003cited by this paper
• Unraveling heterochromatin

  2002cited by this paper
• Stratification of pedigrees multiplex for systemic lupus erythematosus and for self-reported rheumatoid arthritis detects a systemic lupus erythematosus susceptibility gene (SLER1) at 5p15.3.

  2002cited by this paper
• Genetic Data Analysis II. Methods for Discrete Population Genentic Data

  2002cited by this paper
• Testing for genetic associations with the PAX gene family in a spina bifida population.

  2002cited by this paper
• [Epidemiology of twin and twin with birth defects in China].

  2002cited by this paper
• A high-resolution recombination map of the human genome

  2002cited by this paper
• Rapid Multipoint Linkage Analysis via Inheritance Vectors in the Elston-Stewart Algorithm

  2001influential reference
• Estimation of allele frequencies with data on sibships

  2001cited by this paper
• Why are the genes that cause risk of human neural tube defects so hard to find?

  2001cited by this paper
• Mouse models for neural tube closure defects.

  2000cited by this paper
• GFRα1 Is Required for Development of Distinct Subpopulations of Motoneuron

  2000cited by this paper
• Genetic Studies in Neural Tube Defects

  2000cited by this paper
• Erratum to “MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans”

  2000influential reference
• Improved inference of relationship for pairs of individuals.

  2000cited by this paper
• Expression of FGFR1, FGFR2 and FGFR3 during early neural development in the chick embryo.

  2000cited by this paper
• Genetic studies in neural tube defects. NTD Collaborative Group.

  2000cited by this paper
• Assessment of linkage disequilibrium by the decay of haplotype sharing, with application to fine-scale genetic mapping.

  1999cited by this paper
• Approaches to Gene Mapping in Complex Human Diseases. Edited by Jonathan L. Haines and Margaret A. Pericak Vance. John Wiley and Sons, New York, 1998. p. xxii + 434 pp., $69.95.

  1999cited by this paper
• PedCheck: a program for identification of genotype incompatibilities in linkage analysis.

  1998cited by this paper
• Prenatally diagnosed neural tube defects: ultrasound, chromosome, and autopsy or postnatal findings in 212 cases.

  1998cited by this paper
• Are common mutations of cystathionine β‐synthase involved in the aetiology of neural tube defects?

  1997cited by this paper
• Accurate inference of relationships in sib-pair linkage studies.

  1997cited by this paper
• Aneuploidy among prenatally detected neural tube defects.

  1996cited by this paper
• PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida.

  1996cited by this paper
• Epidemiological evaluation of the use of genetics to improve the predictive value of disease risk factors.

  1995cited by this paper
• Absence of linkage between familial neural tube defects and PAX3 gene.

  1995cited by this paper
• Study of genetics, epidemiology, and vitamin usage in familial spina bifida in the United States in the 1990s

  1994cited by this paper
• A class of tests for linkage using affected pedigree members.

  1994cited by this paper
• Epidemiology and Control of Neural Tube Defects

  1993cited by this paper
• Apolipoprotein E: high-avidity binding to beta-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease.

  1993cited by this paper
• Upper and lower neural tube defects: an alternate hypothesis.

  1993cited by this paper
• A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10

  1993cited by this paper
• Recommendations for the use of folic acid to reduce the number of cases of spina bifida and other neural tube defects.

  1992cited by this paper
• Do familial neural tube defects breed true?

  1991cited by this paper
• Linkage studies in familial Alzheimer disease: evidence for chromosome 19 linkage.

  1991cited by this paper
• Prevention of neural tube defects : Results of the Medical Research Council Vitamin Study MRC VITAMIN STUDY RESEARCH GROUP

  1991cited by this paper
• Linkage strategies for genetically complex traits. II. The power of affected relative pairs.

  1990cited by this paper
• Linkage studies in familial Alzheimer's disease.

  1989cited by this paper
• Multivitamin/folic acid supplementation in early pregnancy reduces the prevalence of neural tube defects.

  1989cited by this paper
• Estimating the power of a proposed linkage study for a complex genetic trait.

  1989cited by this paper
• Inheritance of human breast cancer: evidence for autosomal dominant transmission in high-risk families.

  1988cited by this paper
• Are 'upper' and 'lower' neural tube defects aetiologically different?

  1988cited by this paper
• Estimating the power of a proposed linkage study: a practical computer simulation approach.

  1986influential reference
• Possible causal heterogeneity in spina bifida cystica.

  1985cited by this paper
• Linkage analysis and family classification under heterogeneity

  1983influential reference

• Les facteurs de risque d'apparition de l'anencéphalie en Tunisie

  2025cites this paper
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  2024cites this paper
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  2023cites this paper
• Neural tube defects

  2021cites this paper
• Identifying biomarkers for prenatal diagnosis of neural tube defects based on “omics”

  2021cites this paper
• Closing in on Mechanisms of Open Neural Tube Defects.

  2020cites this paper
• Abnormal level of CUL4B-mediated histone H2A ubiquitination causes disruptive HOX gene expression

  2019cites this paper
• 8 Advances in Genetics of Non Syndromic Neural Tube Defects

  2018cites this paper
• Whole exome sequencing identifies novel predisposing genes in neural tube defects

  2018cites this paper
• Rare deleterious variants in GRHL3 are associated with human spina bifida

  2017cites this paper
• An FGF3-BMP Signaling Axis Regulates Caudal Neural Tube Closure, Neural Crest Specification and Anterior-Posterior Axis Extension

  2016influential citation
• Reparación fetoscópica del mielomeningocele en el feto ovino

  2016cites this paper
• An increase in spina bifida cases in Tunisia, 2008-2011.

  2015cites this paper
• Neural tube defect family with recessive trait linked to chromosome 9q21.12-21.31

  2015cites this paper
• Role of Cecr2 and Candidate Modifier Genes of Cecr2 in the Neural Tube Defect Exencephaly

  2015cites this paper
• Identification of functional SNPs in PAX3 gene and in silico analysis of damaging SNPs in relation to neural tube defect

  2015cites this paper
• Epidemiology of neural tube defect subtypes in Tunisia, 1991-2011.

  2014cites this paper
• Classification, clinical features, and genetics of neural tube defects

  2014cites this paper
• Pierwotna profilaktyka wrodzonych wad rozwojowych poprzez suplementację diety kwasem foliowym na terenie powiatu poznańskiego i miasta Poznania w latach 2005-2009

  2014cites this paper
• Intersection of complex genetic traits affecting maternal metabolism, fetal metabolism, and neural tube defect risk: looking for needles in multiple haystacks.

  2014cites this paper
• High Density SNP Screen in A Large Multiplex Neural Tube Defect Family Refines Linkage to Loci at 7p21-Pter And 2q33.1-35

  2014cites this paper
• Planar cell polarity signalling and development of the early mammalian nervous system

  2013cites this paper
• Neural-tube defects.

  2013cites this paper
• Mouse as a model for multifactorial inheritance of neural tube defects.

  2012cites this paper
• Strain-specific modifier genes of Cecr2-associated exencephaly in mice: genetic analysis and identification of differentially expressed candidate genes.

  2012cites this paper
• Polymorphic variants at 10q25.3 and 17q22 loci and the risk of non-syndromic cleft lip and palate in the Polish population.

  2012cites this paper
• Advances in Genetics of Non Syndromic Neural Tube Defects

  2012cites this paper
• Analyse génétique moléculaire du gène de la voie non-canonique Frizzled/Dishevelled PRICKLE1 dans les anomalies du tube neural chez l’humain

  2012cites this paper
• Introduction: neural tube defects.

  2012cites this paper
• Distribution of MTHFD1 gene 1958G>A Polymorphism in the Jordanian Population and its Relation with Neural tube Defects

  2012cites this paper
• Neural tube defects between folate metabolism and genetics

  2011cites this paper
• Association of folate receptor (FOLR1, FOLR2, FOLR3) and reduced folate carrier (SLC19A1) genes with meningomyelocele.

  2010cites this paper
• Genetic basis of neural tube defects.

  2009cites this paper
• Genetics of human neural tube defects

  2009cites this paper
• Maternal fumonisin exposure as a risk factor for neural tube defects.

  2009cites this paper
• Clinical geneticists in birth defects surveillance and epidemiology research programs: past, present and future roles.

  2009cites this paper
• IMPLICATION OF GENETIC FACTORS IN NEURAL TUBE DEFECTS ETIOLOGY

  2009cites this paper
• Refinement of 2q and 7p loci in a large multiplex NTD family.

  2008cites this paper
• Nonneural Congenital Abnormalities Concurring with Myelomeningocele: Report of 17 Cases and Review of Current Theories

  2008cites this paper
• Genetic investigation of both complex and Mendelian disorders: Neural tube defects and Native American myopathy

  2007cites this paper
• Duplication 16q12.1-q22.1 characterized by array CGH in a girl with spina bifida.

  2007cites this paper
• Developmental Biology: Frontiers for Clinical Genetics

  2007cites this paper
• Toward understanding the genetic basis of neural tube defects

  2007cites this paper
• Modifier locus for exencephaly in Cecr2 mutant mice is syntenic to the 10q25.3 region associated with neural tube defects in humans.

  2007cites this paper
• Mouse mutants with neural tube closure defects and their role in understanding human neural tube defects.

  2007cites this paper
• Gene expression profiling of hereditary exencephaly in chickens.

  2006cites this paper
• High-density single nucleotide polymorphism screen in a large multiplex neural tube defect family refines linkage to loci at 7p21.1-pter and 2q33.1-q35.

  2006cites this paper
• The Neural Tube Defect: Issues of Prenatal Diagnosis, Genetic Counselling, Prevention and Management

  2006cites this paper
• Potential for expanded power in linkage studies using the ALLEGRO and MERLIN software programs

  2005cites this paper
• EDUCATION

  1957cites this paper