Comparison of the clinical scoring systems in Silver–Russell syndrome and development of modified diagnostic criteria to guide molecular genetic testing-Reference-Cited by-同舟云学术

Comparison of the clinical scoring systems in Silver–Russell syndrome and development of modified diagnostic criteria to guide molecular genetic testing

Published:2013-06-28 Issue:9 Volume:50 Page:635-639
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:J Med Genet

Author:

Dias Renuka P,Nightingale Peter,Hardy Carol,Kirby Gail,Tee Louise,Price Susan,MacDonald Fiona,Barrett Timothy G,Maher Eamonn R

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Reference18 articles.

1. The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria;Price;J Med Genet,1999

2. Silver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions;Hitchins;J Med Genet,2001

3. Air or oxygen for neonatal resuscitation in the delivery room?;Chabernaud;J Gynecol Obstet Biol Reprod (Paris),2005

4. 11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring system and epigenetic-phenotypic correlations;Netchine;J Clin Endocrinol Metab,2007

5. Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes;Bartholdi;J Med Genet,2009

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2. Adrenal and Gonadal Activity, Androgen Concentrations, and Adult Height Outcomes in Boys With Silver-Russell Syndrome;Frontiers in Endocrinology;2019-12-10

3. Intellectual functioning in Silver-Russell syndrome: First study in adults;Applied Neuropsychology: Adult;2019-08-08

4. Hyperestrogenism Affects Adult Height Outcome in Growth Hormone Treated Boys With Silver-Russell Syndrome;Frontiers in Endocrinology;2018-12-21

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