Literature DB >> 8075640

Human haploinsufficiency--one for sorrow, two for joy.

E Fisher, P Scambler.   

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Year:  1994        PMID： 8075640     DOI： 10.1038/ng0594-5

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


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  43 in total

Review 1.  SHOX gene in Leri-Weill syndrome and in idiopathic short stature.

Authors:  S Bernasconi; S Mariani; C Falcinelli; S Milioli; L Iughetti; A Forabosco
Journal:  J Endocrinol Invest       Date:  2001-10       Impact factor: 4.256

2.  Consequences of nonadaptive alterations in cancer.

Authors:  Alexander Kamb
Journal:  Mol Biol Cell       Date:  2003-02-21       Impact factor: 4.138

Review 3.  A continuum model for tumour suppression.

Authors:  Alice H Berger; Alfred G Knudson; Pier Paolo Pandolfi
Journal:  Nature       Date:  2011-08-10       Impact factor: 49.962

4.  Misexpression of Six2 is associated with heritable frontonasal dysplasia and renal hypoplasia in 3H1 Br mice.

Authors:  Ben Fogelgren; Mari C Kuroyama; Brandeis McBratney-Owen; Allyson A Spence; Laura E Malahn; Mireille K Anawati; Chantelle Cabatbat; Vernadeth B Alarcon; Yusuke Marikawa; Scott Lozanoff
Journal:  Dev Dyn       Date:  2008-07       Impact factor: 3.780

Review 5.  Aneuploidy: cells losing their balance.

Authors:  Eduardo M Torres; Bret R Williams; Angelika Amon
Journal:  Genetics       Date:  2008-06       Impact factor: 4.562

6.  Modeling stochastic gene expression: implications for haploinsufficiency.

Authors:  D L Cook; A N Gerber; S J Tapscott
Journal:  Proc Natl Acad Sci U S A       Date:  1998-12-22       Impact factor: 11.205

7.  Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11.

Authors:  O Bartsch; W Wuyts; W Van Hul; J T Hecht; P Meinecke; D Hogue; W Werner; B Zabel; G K Hinkel; C M Powell; L G Shaffer; P J Willems
Journal:  Am J Hum Genet       Date:  1996-04       Impact factor: 11.025

Review 8.  Genetics of aniridia and anterior segment dysgenesis.

Authors:  A Churchill; A Booth
Journal:  Br J Ophthalmol       Date:  1996-07       Impact factor: 4.638

9.  A de novo apparently balanced translocation [46,XY,t(2;9)(p13;p24)] interrupting RAB11FIP5 identifies a potential candidate gene for autism spectrum disorder.

Authors:  Jasmin Roohi; David H Tegay; John C Pomeroy; Sandra Burkett; Gary Stone; Roscoe Stanyon; Eli Hatchwell
Journal:  Am J Med Genet B Neuropsychiatr Genet       Date:  2008-06-05       Impact factor: 3.568

10.  Identification of small molecules inducing apoptosis by cell-based assay using fission yeast deletion mutants.

Authors:  Kyung-Sook Chung; Nam-Hui Yim; Seung-Hee Lee; Shin-Jung Choi; Kyung-Sun Hur; Kwang-Lae Hoe; Dong-Uk Kim; Sondra Goehle; Hyung-Bae Kim; Kyung-Bin Song; Hyang-Sook Yoo; Ki-Hwan Bae; Julian Simon; Misun Won
Journal:  Invest New Drugs       Date:  2008-01-19       Impact factor: 3.850
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