Novel Heterozygous Nonsense GLI2 Mutations in Patients with Hypopituitarism and Ectopic Posterior Pituitary Lobe without Holoprosencephaly-Reference-Cited by-同舟云学术

Novel Heterozygous Nonsense GLI2 Mutations in Patients with Hypopituitarism and Ectopic Posterior Pituitary Lobe without Holoprosencephaly

Published:2010-11-01 Issue:11 Volume:95 Page:E384-E391
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:

Author:

França Marcela M.¹,Jorge Alexander A. L.¹,Carvalho Luciani R. S.¹,Costalonga Everlayny F.¹,Vasques Gabriela A.¹,Leite Claudia C.²,Mendonca Berenice B.¹,Arnhold Ivo J. P.¹

Affiliation:

1. Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM/42, Disciplina de Endocrinologia (M.M.F., A.A.L.J., L.R.S.C., E.F.C., G.A.V., B.B.M., I.J.P.A.), Hospital das Clinicas da Faculdade de Medicina da Universidade de São Paulo, 05403-900 São Paulo, Brazil

2. Departamento de Radiologia (C.C.L.), Hospital das Clinicas da Faculdade de Medicina da Universidade de São Paulo, 05403-900 São Paulo, Brazil

Publisher

The Endocrine Society

Subject

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

Link

http://academic.oup.com/jcem/article-pdf/95/11/E384/9092757/jcemE384.pdf

Reference40 articles.

1. Contribution of magnetic resonance imaging in non-tumoral hypopituitarism in children.;Garel;Horm Res,2007

2. Genetic basis of endocrine disease. 6. Molecular basis of familial human growth hormone deficiency.;Phillips 3rd;J Clin Endocrinol Metab,1994

3. Evidence of a congenital midline brain anomaly in pituitary dwarfs: a magnetic resonance imaging study in 101 patients.;Triulzi;Pediatrics,1994

4. Mutations in PROP1 cause familial combined pituitary hormone deficiency.;Wu;Nat Genet,1998

5. Genetic regulation of pituitary gland development in human and mouse.;Kelberman;Endocr Rev,2009

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