The E180splice mutation in theGHRgene causing Laron syndrome: Witness of a Sephardic Jewish exodus from the Iberian Peninsula to the New World?-Reference-Cited by-同舟云学术

The E180splice mutation in theGHRgene causing Laron syndrome: Witness of a Sephardic Jewish exodus from the Iberian Peninsula to the New World?

Published:2014-03-24 Issue:5 Volume:164 Page:1204-1208
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet

Author:

Gonçalves Fernanda T.¹,Fridman Cintia¹,Pinto Emília M.²,Guevara-Aguirre Jaime³,Shevah Orit⁴,Rosembloom Arlan L.⁵,Hwa Vivian⁶,Cassorla Fernando⁷,Rosenfeld Ron G.⁶,Lins Theresa S.S.⁸,Damiani Durval⁹,Arnhold Ivo J.P.²,Laron Zvi⁴,Jorge Alexander A.L.²

Affiliation:

1. Laboratório de Imunohematologia e Hematologia Forense (LIM40); Departamento de Medicina Legal; Ética Médica e Medicina Social e do Trabalho; Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo; São Paulo Brazil

2. Laboratorio de Hormonios e Genetica Molecular (LIM/42) and Unidade de Endocrinologia Genetica (LIM/25); Faculdade de Medicina da Universidade de São Paulo; São Paulo Brazil

3. Facultad de Medicina; Universidad San Francisco de Quito & Instituto de Endocrinología IEMYR; Quito Ecuador

4. Endocrinology and Diabetes Research Unit; Schneider Childrens' Medical Center; Petah-Tikva Israel

5. Division of Endocrinology; Department of Pediatrics; University of Florida College of Medicine; Gainesville Florida

6. Department of Pediatrics; Oregon Health & Science University; Portland Oregon

7. Institute of Maternal and Child Research (IDIMI); University of Chile; Santiago Chile

8. Instituto de Medicina Integrada Professor Fernando Figueira (IMIP); Recife Brazil

9. Unidade de Endocrinologia Pediátrica Instituto da Criança; Faculdade de Medicina da Universidade de São Paulo; São Paulo Brazil

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference22 articles.

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2. Laron dwarfism and mutations of the growth hormone-receptor gene;Amselem;N Engl J Med,1989

3. Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA;Andrews;Nat Genet,1999

4. Mutation creating a new splice site in the growth hormone receptor genes of 37 Ecuadorean patients with Laron syndrome;Berg;Hum Mutat,1992

5. Receptor mutations and haplotypes in growth hormone receptor deficiency: A global survey and identification of the Ecuadorean E180splice mutation in an oriental Jewish patient;Berg;Acta Paediatr Suppl,1994

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