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

7 August 2017

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title

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

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7 August 2017

Michael Dean

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1 October 2003

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7 August 2017

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7 August 2017

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7 August 2017

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7 August 2017

page(s)

261-274

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

7 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

Simple and complex ABCR: genetic predisposition to retinal disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

https://api.crossref.org/works/10.1002%2FHUMU.10259

1 reference

7 January 2021

Discrepancies between genotype and phenotype in hematology: an important frontier

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

Allelic association of human dopamine D2 receptor gene in alcoholism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

New technologies to assess genotype-phenotype relationships

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

HLA and HIV-1: heterozygote advantage and B*35-Cw*04 disadvantage

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

Prader-Willi and Angelman syndromes: sister imprinted disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

Interaction between the functional polymorphisms of the alcohol-metabolism genes in protection against alcoholism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

Genetic and physiological data implicating the new human gene G72 and the gene for D-amino acid oxidase in schizophrenia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

Heterogeneity in the severity of cystic fibrosis and the role of CFTR gene mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

Balanced polymorphism selected by genetic versus infectious human disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

Overview of the Alliance for Cellular Signaling

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

Genomic imprinting: nature and clinical relevance

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

Syndromic XLMR genes (MRXS): update 2000.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

https://api.crossref.org/works/10.1002%2FHUMU.10259

1 reference

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

A comprehensive review of genetic association studies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

Naturally occurring CCR5 extracellular and transmembrane domain variants affect HIV-1 Co-receptor and ligand binding function

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

Prospects for whole-genome linkage disequilibrium mapping of common disease genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

Significant admixture linkage disequilibrium across 30 cM around the FY locus in African Americans

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

Chlamydia pneumoniae infection promotes the transmigration of monocytes through human brain endothelial cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

Congenital leptin deficiency is associated with severe early-onset obesity in humans

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

Alcohol and aldehyde dehydrogenase genotypes and drinking behavior of Chinese living in Shanghai

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

Nonrandom segregation during meiosis: the unfairness of females

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

Use of unlinked genetic markers to detect population stratification in association studies.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

Are rare variants responsible for susceptibility to complex diseases?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

On the allelic spectrum of human disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

Linkage disequilibrium in the human genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

The Distribution of Long Range Admixture Linkage Disequilibrium in an African-American Population

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

Detecting recent positive selection in the human genome from haplotype structure

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

Genetic restriction of HIV-1 pathogenesis to AIDS by promoter alleles of IL10.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

X-linked adrenoleukodystrophy: genes, mutations, and phenotypes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

Contrasting Genetic Influence of CCR2 and CCR5 Variants on HIV-1 Infection and Disease Progression

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

Markers for mapping by admixture linkage disequilibrium in African American and Hispanic populations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

Genome architecture, rearrangements and genomic disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

Effect of treatment for Chlamydia pneumoniae and Helicobacter pylori on markers of inflammation and cardiac events in patients with acute coronary syndromes: South Thames Trial of Antibiotics in Myocardial Infarction and Unstable Angina (STAMINA).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

Genetic variation in the 6p22.3 gene DTNBP1, the human ortholog of the mouse dysbindin gene, is associated with schizophrenia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

HLA and Disease 1982 - A Survey

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

Advances in hereditary deafness

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

Haplotype diversity and linkage disequilibrium at human G6PD: recent origin of alleles that confer malarial resistance

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

Seasonality of births in schizophrenia and bipolar disorder: a review of the literature

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

Comparative genomics: genome-wide analysis in metazoan eukaryotes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

Update on the molecular genetics of retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

Linkage disequilibrium and the mapping of complex human traits

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

A case-control study in northern Liberia ofPlasmodium falciparummalaria in haemoglobin S and β-thalassaemia traits

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

The germless theory of allergic disease: revisiting the hygiene hypothesis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

Genetic basis of Creutzfeldt-Jakob disease in the United Kingdom: a systematic analysis of predisposing mutations and allelic variation in the PRNP gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

Emergence of FY*A(null) in a Plasmodium vivax-endemic region of Papua New Guinea

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10259

7 January 2021

Identifiers

DOI

10.1002/HUMU.10259

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7 August 2017

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