Genotype-Phenotype Associations in Sotos Syndrome: An Analysis of 266 Individuals with NSD1 Aberrations-Reference-Cited by-同舟云学术

Genotype-Phenotype Associations in Sotos Syndrome: An Analysis of 266 Individuals with NSD1 Aberrations

Published:2005-08 Issue:2 Volume:77 Page:193-204
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Tatton-Brown Katrina,Douglas Jenny,Coleman Kim,Baujat Geneviève,Cole Trevor R.P.,Das Soma,Horn Denise,Hughes Helen E.,Temple I. Karen,Faravelli Francesca,Waggoner Darrel,Türkmen Seval,Cormier-Daire Valérie,Irrthum Alexandre,Rahman Nazneen

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference22 articles.

1. The PHD finger: implications for chromatin-mediated transcriptional regulation;Aasland;Trends Biochem Sci,1995

2. Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome;Baujat;Am J Hum Genet,2004

3. Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth;Cecconi;Am J Med Genet A,2005

4. Mutations in the NSD1 gene in patients with Sotos syndrome associate with endocrine and paracrine alterations in the IGF system;de Boer;Eur J Endocrinol,2004

5. Chromosomal phenotypes and submicroscopic abnormalities;Devriendt;Hum Genomics,2004

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