Literature DB >> 10793008

Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics.

K M Dipple, E R McCabe.   

Abstract

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Year:  2000        PMID： 10793008      PMCID： PMC1378056          DOI： 10.1086/302938

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  95 in total

1.  DFNA25, a novel locus for dominant nonsyndromic hereditary hearing impairment, maps to 12q21-24.

Authors:  C C Greene; P M McMillan; S E Barker; P Kurnool; M I Lomax; M Burmeister; M M Lesperance
Journal:  Am J Hum Genet       Date:  2000-12-11       Impact factor: 11.025

2.  VLCAD enzyme activity determinations in newborns identified by screening: a valuable tool for risk assessment.

Authors:  Lars Hoffmann; Ulrike Haussmann; Martina Mueller; Ute Spiekerkoetter
Journal:  J Inherit Metab Dis       Date:  2011-09-20       Impact factor: 4.982

Review 3.  Multiple hits during early embryonic development: digenic diseases and holoprosencephaly.

Authors:  Jeffrey E Ming; Maximilian Muenke
Journal:  Am J Hum Genet       Date:  2002-10-22       Impact factor: 11.025

4.  CFTR mutation analysis and haplotype associations in CF patients.

Authors:  S K Cordovado; M Hendrix; C N Greene; S Mochal; M C Earley; P M Farrell; M Kharrazi; W H Hannon; P W Mueller
Journal:  Mol Genet Metab       Date:  2011-10-26       Impact factor: 4.797

5.  Hepatorenal findings in obligate heterozygotes for autosomal recessive polycystic kidney disease.

Authors:  Meral Gunay-Aygun; Baris I Turkbey; Joy Bryant; Kailash T Daryanani; Maya Tuchman Gerstein; Katie Piwnica-Worms; Peter Choyke; Theo Heller; William A Gahl
Journal:  Mol Genet Metab       Date:  2011-09-08       Impact factor: 4.797

6.  Clan genomics and the complex architecture of human disease.

Authors:  James R Lupski; John W Belmont; Eric Boerwinkle; Richard A Gibbs
Journal:  Cell       Date:  2011-09-30       Impact factor: 41.582

7.  The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers.

Authors:  I Aksentijevich; J Galon; M Soares; E Mansfield; K Hull; H H Oh; R Goldbach-Mansky; J Dean; B Athreya; A J Reginato; M Henrickson; B Pons-Estel; J J O'Shea; D L Kastner
Journal:  Am J Hum Genet       Date:  2001-07-06       Impact factor: 11.025

Review 8.  Edgotype: a fundamental link between genotype and phenotype.

Authors:  Nidhi Sahni; Song Yi; Quan Zhong; Noor Jailkhani; Benoit Charloteaux; Michael E Cusick; Marc Vidal
Journal:  Curr Opin Genet Dev       Date:  2013-11-26       Impact factor: 5.578

9.  Epistatic interaction between variations in the angiotensin I converting enzyme and angiotensin II type 1 receptor genes in relation to extent of coronary atherosclerosis.

Authors:  S Ye; S Dhillon; R Seear; L Dunleavey; L B Day; W Bannister; I N M Day; I Simpson
Journal:  Heart       Date:  2003-10       Impact factor: 5.994

10.  In silico and functional studies of the regulation of the glucocerebrosidase gene.

Authors:  Yotam N Blech-Hermoni; Shira G Ziegler; Kathleen S Hruska; Barbara K Stubblefield; Mary E Lamarca; Matthew E Portnoy; Eric D Green; Ellen Sidransky
Journal:  Mol Genet Metab       Date:  2009-11-04       Impact factor: 4.797
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