Literature DB >> 12161598

Silver-Russell phenotype in a patient with pure trisomy 1q32.1-q42.1: further delineation of the pure 1q trisomy syndrome.

M M van Haelst, H J F M M Eussen, F Visscher, J L M de Ruijter, S L S Drop, D Lindhout, C H Wouters, L C P Govaerts.   

Abstract

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Year:  2002        PMID： 12161598      PMCID： PMC1735207          DOI： 10.1136/jmg.39.8.582

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


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  2 in total

1.  Hypomethylation of the H19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype.

Authors:  Jet Bliek; Paulien Terhal; Marie-José van den Bogaard; Saskia Maas; Ben Hamel; Georgette Salieb-Beugelaar; Marleen Simon; Tom Letteboer; Jasper van der Smagt; Hester Kroes; Marcel Mannens
Journal:  Am J Hum Genet       Date:  2006-03-01       Impact factor: 11.025

2.  Rehabilitation Treatment of a Child Diagnosed With Duplication of 1q42-q44: A Case Report.

Authors:  Seong Woo Kim; Jiyong Kim; Ha Ra Jeon; Min Jung Park; Yoon Kim
Journal:  Ann Rehabil Med       Date:  2016-10-31
  2 in total

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