Dissecting polygenic signals from genome-wide association studies on human behaviour

A Abdellaoui, KJH Verweij - Nature Human Behaviour, 2021 - nature.com
Genome-wide association studies on human behavioural traits are producing large amounts
of polygenic signals with significant predictive power and potentially useful biological clues …

Candidate gene–environment interaction research: Reflections and recommendations

DM Dick, A Agrawal, MC Keller… - Perspectives on …, 2015 - journals.sagepub.com
Studying how genetic predispositions come together with environmental factors to contribute
to complex behavioral outcomes has great potential for advancing the understanding of the …

Identification of the cystic fibrosis gene: genetic analysis

B Kerem, JM Rommens, JA Buchanan, D Markiewicz… - Science, 1989 - science.org
Approximately 70 percent of the mutations in cystic fibrosis patients correspond to a specific
deletion of three base pairs, which results in the loss of a phenylalanine residue at amino …

Identification of the cystic fibrosis gene: chromosome walking and jumping

JM Rommens, MC Iannuzzi, B Kerem, ML Drumm… - Science, 1989 - science.org
An understanding of the basic defect in the inherited disorder cystic fibrosis requires cloning
of the cystic fibrosis gene and definition of its protein product. In the absence of direct …

Lung infections associated with cystic fibrosis

JB Lyczak, CL Cannon, GB Pier - Clinical microbiology reviews, 2002 - Am Soc Microbiol
While originally characterized as a collection of related syndromes, cystic fibrosis (CF) is
now recognized as a single disease whose diverse symptoms stem from the wide tissue …

[图书][B] Thompson & Thompson genetics in medicine

RL Nussbaum, RR McInnes, HF Willard - 2015 - books.google.com
Updated to reflect the newest changes in genetics, Thompson & Thompson's Genetics in
Medicine returns as one of the most favored texts in this fascinating and rapidly evolving …

Identification of mutations in the COL4A5 collagen gene in Alport syndrome

DF Barker, SL Hostikka, J Zhou, LT Chow, AR Oliphant… - Science, 1990 - science.org
X-linked Alport syndrome is a hereditary glomerulonephritis in which progressive loss of
kidney function is often accompanied by progressive loss of hearing. Ultrastructural defects …

The genetic defect causing familial Alzheimer's disease maps on chromosome 21

PH St George-Hyslop, RE Tanzi, RJ Polinsky… - Science, 1987 - science.org
Alzheimer's disease is a leading cause of morbidity and mortality among the elderly. Several
families have been described in which Alzheimer's disease is caused by an autosomal …

Variable number of tandem repeat (VNTR) markers for human gene mapping

Y Nakamura, M Leppert, P O'Connell, R Wolff, T Holm… - Science, 1987 - science.org
A large collection of good genetic markers is needed to map the genes that cause human
genetic diseases. Although nearly 400 polymorphic DNA markers for human chromosomes …

Cystic fibrosis: genotypic and phenotypic variations

J Zielenski, LC Tsui - Annual review of genetics, 1995 - annualreviews.org
Cystic fibrosis (CF) is a common genetic disorder in the Caucasian population. The gene
was identified in 1989 on the basis of its map location on chromosome 7. The encoded gene …