Literature DB >> 11106365

CHARGE association in a child with de Novo chromosomal aberration 46, X,der(X)t(X;2)(p22.1;q33) detected by spectral karyotyping.

D Lev, O Nakar, I Bar-Am, A Zudik, N Watemberg, S Finkelstien, N Katzin, T Lerman-Sagie.   

Abstract

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Year:  2000        PMID： 11106365      PMCID： PMC1734493          DOI： 10.1136/jmg.37.12.e47

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  3 in total

Review 1.  Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome.

Authors:  Gabriel E Zentner; Wanda S Layman; Donna M Martin; Peter C Scacheri
Journal:  Am J Med Genet A       Date:  2010-03       Impact factor: 2.802

2.  Duplication 2p25 in a child with clinical features of CHARGE syndrome.

Authors:  Ethan D Sperry; Jane L Schuette; Conny M A van Ravenswaaij-Arts; Glenn E Green; Donna M Martin
Journal:  Am J Med Genet A       Date:  2016-02-06       Impact factor: 2.802

3.  Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.

Authors:  Seema R Lalani; Arsalan M Safiullah; Susan D Fernbach; Karine G Harutyunyan; Christina Thaller; Leif E Peterson; John D McPherson; Richard A Gibbs; Lisa D White; Margaret Hefner; Sandra L H Davenport; John M Graham; Carlos A Bacino; Nancy L Glass; Jeffrey A Towbin; William J Craigen; Steven R Neish; Angela E Lin; John W Belmont
Journal:  Am J Hum Genet       Date:  2005-12-29       Impact factor: 11.025
  3 in total

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