(Q44357864)

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Shadow autozygosity mapping by linkage exclusion (SAMPLE): a simple strategy to identify the genetic basis of lethal autosomal recessive disorders

scientific article published in December 2009

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Europe PubMed Central

PubMed publication ID

2 December 2017

Shadow autozygosity mapping by linkage exclusion (SAMPLE): a simple strategy to identify the genetic basis of lethal autosomal recessive disorders (English)

1 reference

Europe PubMed Central

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2 December 2017

David T. Bonthron

5

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Europe PubMed Central

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2 December 2017

Alexander Markham

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Alexander F Markham

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Ian M Carr

1

1 reference

Europe PubMed Central

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2 December 2017

Katarzyna Szymanska

2

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2 December 2017

Eamonn Sheridan

3

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2 December 2017

Colin A Johnson

6

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2 December 2017

publication date

1 December 2009

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2 December 2017

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Europe PubMed Central

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2 December 2017

30

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Europe PubMed Central

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2 December 2017

12

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Europe PubMed Central

PubMed publication ID

2 December 2017

1642-1649

1 reference

Europe PubMed Central

PubMed publication ID

2 December 2017

Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta

1 reference

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Consanguinity and its relevance to clinical genetics.

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A five-year prospective study of the health of children in different ethnic groups, with particular reference to the effect of inbreeding.

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Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families

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IBDfinder and SNPsetter: tools for pedigree-independent identification of autozygous regions in individuals with recessive inherited disease

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Guidelines for genotyping in genomewide linkage studies: single-nucleotide-polymorphism maps versus microsatellite maps

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Application of genome-wide single nucleotide polymorphism typing: simple association and beyond

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Allegro version 2

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Location on chromosome 15 of the gene defect causing Marfan syndrome

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A multiplex human syndrome implicates a key role for intestinal cell kinase in development of central nervous, skeletal, and endocrine systems.

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Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

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Estimation of the inbreeding coefficient through use of genomic data

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Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders

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Science and society: genetic counselling and customary consanguineous marriage

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Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome

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Computer-simulation methods in human linkage analysis

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Lessons from studying monogenic disease for common disease

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The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

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The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.

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Genome-wide autozygosity mapping in human populations

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Mutated MESP2 causes spondylocostal dysostosis in humans

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A new method for autozygosity mapping using single nucleotide polymorphisms (SNPs) and EXCLUDEAR.

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Identifiers

10.1002/HUMU.21105

1 reference

Europe PubMed Central

PubMed publication ID

2 December 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

2 December 2017

ResearchGate publication ID

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