Clinically Distinct Epigenetic Subgroups in Silver-Russell Syndrome: The Degree ofH19Hypomethylation Associates with Phenotype Severity and Genital and Skeletal Anomalies-Reference-Cited by-同舟云学术

Clinically Distinct Epigenetic Subgroups in Silver-Russell Syndrome: The Degree ofH19Hypomethylation Associates with Phenotype Severity and Genital and Skeletal Anomalies

Published:2009-02-01 Issue:2 Volume:94 Page:579-587
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:

Author:

Bruce Sara¹²³,Hannula-Jouppi Katariina²³,Peltonen Jari⁴,Kere Juha¹²³,Lipsanen-Nyman Marita⁴

Affiliation:

1. Department of Biosciences and Nutrition (S.B., J.K.), Karolinska Institutet, S-141 57 Huddinge, Sweden

2. Department of Medical Genetics (S.B., K.H.-J., J.K.), University of Helinski, 00014 Helinski, Finland

3. Folkhälsan Institute of Genetics (S.B., K.H.-J., J.K.), Biomedicum Helinski, 00014 Helinski, Finland

4. Hospital for Children and Adolescents (J.P., M.L.-N.), University of Helinski, 00029 Helinski, Finland

Publisher

The Endocrine Society

Subject

Biochemistry, medical,Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

Link

http://academic.oup.com/jcem/article-pdf/94/2/579/9059694/jcem0579.pdf

Reference37 articles.

1. Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotropins.;Silver;Pediatrics,1953

2. A syndrome of intra-uterine dwarfism recognizable at birth with cranio-facial dysostosis, disproportionately short arms, and other anomalies (5 examples).;Russell;Proc R Soc Med,1954

3. Growth and symptoms in Silver-Russell syndrome: review on the basis of 386 patients.;Wollmann;Eur J Pediatr,1995

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

5. The Silver-Russell syndrome: a case with sexual ambiguity, and a review of literature.;Marks;Am J Dis Child,1977

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