Literature DB >> 27194966

A Loss or a Gain, Is It Not All the Same?

Martin Poot.   

Abstract

Entities:  

Year:  2016        PMID： 27194966      PMCID： PMC4862398          DOI： 10.1159/000443814

Source DB:  PubMed          Journal:  Mol Syndromol        ISSN： 1661-8769


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  14 in total

Review 1.  Roles of LIM kinases in central nervous system function and dysfunction.

Authors:  H Cuberos; B Vallée; P Vourc'h; J Tastet; C R Andres; H Bénédetti
Journal:  FEBS Lett       Date:  2015-11-03       Impact factor: 4.124

Review 2.  CNVs of noncoding cis-regulatory elements in human disease.

Authors:  Malte Spielmann; Eva Klopocki
Journal:  Curr Opin Genet Dev       Date:  2013-04-16       Impact factor: 5.578

Review 3.  Structural variations, the regulatory landscape of the genome and their alteration in human disease.

Authors:  Malte Spielmann; Stefan Mundlos
Journal:  Bioessays       Date:  2013-04-29       Impact factor: 4.345

Review 4.  De novo supernumerary ring chromosome 7: first report of a non-mosaic patient and review of the literature.

Authors:  G V N Velagaleti; S M Jalal; M K Kukolich; L H Lockhart; V S Tonk
Journal:  Clin Genet       Date:  2002-03       Impact factor: 4.438

Review 5.  Supernumerary ring chromosome 7 mosaicism: case report, investigation of the gene content, and delineation of the phenotype.

Authors:  K D Lichtenbelt; R Hochstenbach; W M van Dam; M J Eleveld; M Poot; F A Beemer
Journal:  Am J Med Genet A       Date:  2005-01-01       Impact factor: 2.802

6.  Symmetrical Dose-Dependent DNA-Methylation Profiles in Children with Deletion or Duplication of 7q11.23.

Authors:  Emma Strong; Darci T Butcher; Rajat Singhania; Carolyn B Mervis; Colleen A Morris; Daniel De Carvalho; Rosanna Weksberg; Lucy R Osborne
Journal:  Am J Hum Genet       Date:  2015-07-09       Impact factor: 11.025

Review 7.  Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome Rearrangements.

Authors:  Martin Poot; Thomas Haaf
Journal:  Mol Syndromol       Date:  2015-08-15

Review 8.  Rearrangements of the Williams-Beuren syndrome locus: molecular basis and implications for speech and language development.

Authors:  Lucy R Osborne; Carolyn B Mervis
Journal:  Expert Rev Mol Med       Date:  2007-06-13       Impact factor: 5.600

9.  The common inversion of the Williams-Beuren syndrome region at 7q11.23 does not cause clinical symptoms.

Authors:  Elaine Tam; Edwin J Young; Colleen A Morris; Christian R Marshall; Wayne Loo; Stephen W Scherer; Carolyn B Mervis; Lucy R Osborne
Journal:  Am J Med Genet A       Date:  2008-07-15       Impact factor: 2.802

Review 10.  A three-step workflow procedure for the interpretation of array-based comparative genome hybridization results in patients with idiopathic mental retardation and congenital anomalies.

Authors:  Martin Poot; Ron Hochstenbach
Journal:  Genet Med       Date:  2010-08       Impact factor: 8.822
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