Literature DB >> 8403458

Second observation of Silver-Russel syndrome in a carrier of a reciprocal translocation with one breakpoint at site 17q25.

A T Midro, K Debek, A Sawicka, D Marcinkiewicz, M Rogowska.   

Abstract

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Year:  1993        PMID： 8403458     DOI： 10.1111/j.1399-0004.1993.tb03845.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  11 in total

Review 1.  The genetics of the Silver-Russell syndrome.

Authors:  Michael A Preece
Journal:  Rev Endocr Metab Disord       Date:  2002-12       Impact factor: 6.514

2.  Duplication of 7p11.2-p13, including GRB10, in Silver-Russell syndrome.

Authors:  D Monk; E L Wakeling; V Proud; M Hitchins; S N Abu-Amero; P Stanier; M A Preece; G E Moore
Journal:  Am J Hum Genet       Date:  2000-01       Impact factor: 11.025

3.  Diagnostic proceeding in Silver-Russell syndrome.

Authors:  Thomas Eggermann; Esther Meyer; Michael B Ranke; Martin Holder; Stefanie Spranger; Klaus Zerres; Hartmut A Wollmann
Journal:  Mol Diagn       Date:  2005

4.  Hypomethylation in the 11p15 telomeric imprinting domain in a patient with Silver-Russell syndrome with a CSH1 deletion (17q24) renders a functional role of this alteration unlikely.

Authors:  Thomas Eggermann; Nadine Schönherr; Katja Eggermann; Hartmut Wollmann
Journal:  J Med Genet       Date:  2007-04       Impact factor: 6.318

5.  Imprinting of human GRB10 and its mutations in two patients with Russell-Silver syndrome.

Authors:  H Yoshihashi; K Maeyama; R Kosaki; T Ogata; M Tsukahara; Y Goto; J Hata; N Matsuo; R J Smith; K Kosaki
Journal:  Am J Hum Genet       Date:  2000-06-12       Impact factor: 11.025

6.  Russell-Silver Syndrome in a Nigerian infant with intrauterine growth retardation.

Authors:  A W Johnson; O A Mokuolu
Journal:  J Natl Med Assoc       Date:  2001-05       Impact factor: 1.798

Review 7.  Silver-Russell syndrome: genetic basis and molecular genetic testing.

Authors:  Thomas Eggermann; Matthias Begemann; Gerhard Binder; Sabrina Spengler
Journal:  Orphanet J Rare Dis       Date:  2010-06-23       Impact factor: 4.123

8.  Paternally inherited deletion of CSH1 in a patient with Silver-Russell syndrome.

Authors:  T Eggermann; K Eggermann; S Mergenthaler; R Kuner; P Kaiser; M B Ranke; H A Wollmann
Journal:  J Med Genet       Date:  1998-09       Impact factor: 6.318

9.  Russell Silver syndrome and tethered spinal cord.

Authors:  R Shane Tubbs; John C Wellons; W Jerry Oakes
Journal:  Childs Nerv Syst       Date:  2004-05-19       Impact factor: 1.475

10.  First genetic screening for maternal uniparental disomy of chromosome 7 in Turkish silver-russell syndrome patients.

Authors:  Emin Karaca; Beyhan Tuysuz; Sacide Pehlivan; Ferda Ozkinay
Journal:  Iran J Pediatr       Date:  2012-12       Impact factor: 0.364
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