Approaches to identify genes for complex human diseases: lessons from Mendelian disorders (Q35211717)

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English	Approaches to identify genes for complex human diseases: lessons from Mendelian disorders	scientific article

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scholarly article

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Europe PubMed Central

PubMed publication ID

7 August 2017

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Europe PubMed Central

Approaches to identify genes for complex human diseases: lessons from Mendelian disorders (English)

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Europe PubMed Central

PubMed publication ID

7 August 2017

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Michael Dean

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publication date

1 October 2003

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Europe PubMed Central

PubMed publication ID

7 August 2017

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Europe PubMed Central

PubMed publication ID

7 August 2017

22

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Europe PubMed Central

PubMed publication ID

7 August 2017

4

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Europe PubMed Central

PubMed publication ID

7 August 2017

261-274

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Europe PubMed Central

PubMed publication ID

7 August 2017

Factor V Leiden Mutation and the Risks for Thromboembolic Disease: A Clinical Perspective

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A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy

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Further evidence for an association of ABCR alleles with age-related macular degeneration. The International ABCR Screening Consortium

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Simple and complex ABCR: genetic predisposition to retinal disease

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Genomewide scans of complex human diseases: true linkage is hard to find

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Guilt by association

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Allelic association of human dopamine D2 receptor gene in alcoholism

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New technologies to assess genotype-phenotype relationships

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Population and pedigree studies reveal a lack of association between the dopamine D2 receptor gene and alcoholism

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The LPL S447X cSNP is associated with decreased blood pressure and plasma triglycerides, and reduced risk of coronary artery disease

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Ethnic-difference markers for use in mapping by admixture linkage disequilibrium

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Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR

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Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients

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Genetic Restriction of HIV-1 Infection and Progression to AIDS by a Deletion Allele of the CKR5 Structural Gene

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Balanced polymorphism selected by genetic versus infectious human disease

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Effect of COMT Val108/158 Met genotype on frontal lobe function and risk for schizophrenia

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Cancer as an epigenetic disease: DNA methylation and chromatin alterations in human tumours

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Complex interactions of new quantitative trait loci, Sluc1, Sluc2, Sluc3, and Sluc4, that influence the susceptibility to lung cancer in the mouse

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Overview of the Alliance for Cellular Signaling

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Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission

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A Polymorphic Genomic Duplication on Human Chromosome 15 Is a Susceptibility Factor for Panic and Phobic Disorders

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Genomic imprinting: nature and clinical relevance

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Syndromic XLMR genes (MRXS): update 2000.

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Imaging genomics

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Interaction between undulated and Patch leads to an extreme form of spina bifida in double-mutant mice.

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Epstein-Barr virus-associated carcinomas: facts and fiction.

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A comprehensive review of genetic association studies

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Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus

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Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci

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Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder

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Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A

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Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease

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Analysis of association at single nucleotide polymorphisms in the APOE region.

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Genetic acceleration of AIDS progression by a promoter variant of CCR5.

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Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR

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Identifiers

10.1002/HUMU.10259

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

ResearchGate publication ID

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