Molecular genetic analysis of von Hippel–Lindau disease

Richards, Webster, Mcmahon… - Journal of internal …, 1998 - Wiley Online Library
… isolation of the VHL tumour suppressor gene has enabled molecular genetic analysis in
families and patients with definite or possible VHL disease. Initially, linked DNA markers were …

Limits of resolution of genetic linkage studies: implications for the positional cloning of human disease genes.

M Boehnke - American Journal of Human Genetics, 1994 - ncbi.nlm.nih.gov
… Summary Positional cloning studies to identify disease genes are being carried out for
many human genetic diseases. Such studies often include a genome-scan linkage analysis to …

[PDF][PDF] Genetic analysis of families with Parkinson disease that carry the Ala53Thr mutation in the gene encoding α-synuclein

A Athanassiadou, G Voutsinas, L Psiouri… - … of Human Genetics, 1999 - cell.com
… We present here a molecular-genetic analysis of PD families, with respect to mutations in
the a-synuclein gene. Our study was approved by the Ethics Committee of the Medical School …

Common genetic variation and human disease

N Orr, S Chanock - Advances in genetics, 2008 - Elsevier
… Validated sequencing and genotyping assay conditions are openly available from the
SNP500 website and data may be extracted preformatted for use in a number of genetic analysis

Three-dimensional reconstruction of protein networks provides insight into human genetic disease

X Wang, X Wei, B Thijssen, J Das, SM Lipkin… - Nature …, 2012 - nature.com
… To better understand the molecular mechanisms and genetic basis of human disease, we …
examine the relationships among human diseases and their associated genes and mutations. …

Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease

KE Lohmueller, CL Pearce, M Pike, ES Lander… - … genetics, 2003 - nature.com
… Finally, our results suggest a possible productive avenue for human disease genetics in
the near future. It seems likely that a fraction (perhaps a quarter) of previously published …

The genetic analysis of human behavior: a new era?

PR Billings, J Beckwith, JS Alper - Social science & medicine, 1992 - Elsevier
… it will be possible to exclude large fractions of the genome as involved in human behavioral
variation, and to eliminate genetic factors as the cause of some human disease or …

[HTML][HTML] Analysis of the human diseasome using phenotype similarity between common, genetic and infectious diseases

R Hoehndorf, PN Schofield, GV Gkoutos - Scientific reports, 2015 - nature.com
… 6,000 diseases. … disease-associated genes in mice and humans with high accuracy. Using
a phenotypic similarity measure, we generate a human disease network in which diseases

[图书][B] Modern genetic analysis: integrating genes and genomes

AJF Griffiths - 2002 - books.google.com
… Focus on Genetic Analysis In Modern Genetic Analysis we focus on the questions that
underlie much of modern genetics, such as, "How may genes affect this phenotypic difference? …

Mouse models of human genetic disease: which mouse is more like a man?

RP Erickson - Bioessays, 1996 - Wiley Online Library
… model for a human disease, one needs to choose the correct genetic background as well
as … ’ period provided examples of genetic analysis of modifying genes. For instance, Teicher …