Literature DB >> 11001794

Modifier genes convert "simple" Mendelian disorders to complex traits.

K M Dipple1, E R McCabe.   

Abstract

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Year:  2000        PMID： 11001794     DOI： 10.1006/mgme.2000.3052

Source DB:  PubMed          Journal:  Mol Genet Metab        ISSN： 1096-7192            Impact factor:   4.797


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  61 in total

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

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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

Review 5.  A Next Generation Multiscale View of Inborn Errors of Metabolism.

Authors:  Carmen A Argmann; Sander M Houten; Jun Zhu; Eric E Schadt
Journal:  Cell Metab       Date:  2015-12-17       Impact factor: 27.287

6.  The Hidden Complexity of Mendelian Traits across Natural Yeast Populations.

Authors:  Jing Hou; Anastasie Sigwalt; Téo Fournier; David Pflieger; Jackson Peter; Jacky de Montigny; Maitreya J Dunham; Joseph Schacherer
Journal:  Cell Rep       Date:  2016-07-07       Impact factor: 9.423

Review 7.  Single-gene disorders: what role could moonlighting enzymes play?

Authors:  Ganesh Sriram; Julian A Martinez; Edward R B McCabe; James C Liao; Katrina M Dipple
Journal:  Am J Hum Genet       Date:  2005-04-22       Impact factor: 11.025

8.  Intrafamilial variability for novel TAZ gene mutation: Barth syndrome with dilated cardiomyopathy and heart failure in an infant and left ventricular noncompaction in his great-uncle.

Authors:  Diti Ronvelia; Jaclyn Greenwood; Julia Platt; Simin Hakim; Michael V Zaragoza
Journal:  Mol Genet Metab       Date:  2012-09-18       Impact factor: 4.797

9.  Significance of genotype in tetrahydrobiopterin-responsive phenylketonuria.

Authors:  F K Trefz; D Scheible; H Götz; G Frauendienst-Egger
Journal:  J Inherit Metab Dis       Date:  2008-10-30       Impact factor: 4.982

10.  Finding unique filter sets in PLATO: a precursor to efficient interaction analysis in GWAS data.

Authors:  Benjamin J Grady; Eric Torstenson; Scott M Dudek; Justin Giles; David Sexton; Marylyn D Ritchie
Journal:  Pac Symp Biocomput       Date:  2010
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