Hypoplasie congénitale des surrénales : à propos de quatre observations-Reference-Cited by-同舟云学术

Hypoplasie congénitale des surrénales : à propos de quatre observations

Published:2005-04 Issue:4 Volume:12 Page:380-384
ISSN:0929-693X
Container-title:Archives de Pédiatrie
language:fr
Short-container-title:Archives de Pédiatrie

Author:

Pélissier P.,Merlin E.,Prieur F.,David M.,Malpuech G.,Forest M.G.,Morel Y.,Nicolino M.,Richard O.,Stéphan J.-L.

Publisher

Elsevier BV

Subject

Pediatrics, Perinatology and Child Health

Reference17 articles.

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2. A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism;Tabarin;J. Clin. Invest.,2000

3. Characterization of a Xp21 microdeletion syndrome in a 2-year-old boy with muscular dystrophy, glycerol kinase deficiency and adrenal hypoplasia congenita;Sturhrmann;Hum. Genet.,1991

4. An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita;Zanaria;Nature,1994

5. DAX1 antagonize Sry action in mammalian sex determination;Swain;Nature,1998

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2. A novel de novo frameshift mutation in NR0B1 and low prenatal estriol in adrenal hypoplasia congenita;Annals of the New York Academy of Sciences;2018-08-21

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4. Interprétation des valeurs atypiques des marqueurs sériques;Journal de Gynécologie Obstétrique et Biologie de la Reproduction;2014-01

5. A man with a DAX1/NR0B1 mutation, normal puberty, and an intact hypothalamic–pituitary–gonadal axis but deteriorating oligospermia during long-term follow-up;European Journal of Endocrinology;2013-04