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X-linked adrenal hypoplasia congenita
Known as:
Adrenal Hypoplasia, Congenital, with Hypogonadotropic Hypogonadism
, ADDISON DISEASE, X-LINKED
, Adrenal Hypoplasia, Congenital
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A X-linked condition characterized by underdevelopment of the adrenal gland and adrenal insufficiency caused by mutation(s) in the NR0B1 gene…
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National Institutes of Health
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Related topics
Related topics
7 relations
Abdominal Cavity
Adrenal Glands
Endocrine system
Retroperitoneal Space
Broader (3)
Adrenal gland hypofunction
Congenital hypoplasia of adrenal gland
Genetic Diseases, X-Linked
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2013
2013
X-Linked Adrenal Hypoplasia Congenita
J. Achermann
,
E. Vilain
2013
Corpus ID: 68514248
Mutations in the NR0B1 gene cause X-linked adrenal hypoplasia congenita. The NR0B1 gene provides instructions to make a protein…
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Highly Cited
2007
Highly Cited
2007
Identification of a novel GPR143 mutation in a large Chinese family with congenital nystagmus as the most prominent and consistent manifestation
Jing Yu Liu
,
X. Ren
,
+8 authors
Q. Wang
Journal of Human Genetics
2007
Corpus ID: 8817493
AbstractCongenital nystagmus is characterized by involuntary, rhythmical, repeated oscillations of one or both eyes. We studied a…
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2006
2006
DAX1 and X-linked adrenal hypoplasia congenita: clinical and molecular analysis in five patients.
G. Mantovani
,
E. de Menis
,
+5 authors
P. Beck‐Peccoz
European Journal of Endocrinology
2006
Corpus ID: 19976865
OBJECTIVE Mutations in the gene coding for the orphan nuclear receptor DAX1 cause X-linked adrenal hypoplasia congenita (AHC…
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Highly Cited
1997
Highly Cited
1997
Oto- spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene.
M. V. Steensel
,
P. Buma
,
M. D. W. Malefijt
,
F. V. D. Hoogen
,
H. Brunner
American journal of medical genetics
1997
Corpus ID: 20127516
We describe a syndrome of midface hypoplasia, non-progressive sensorineural deafness and epiphyseal dysplasia in 3 sibs born to…
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1997
1997
Three novel mutations and a de novo deletion mutation of the DAX-1 gene in patients with X-linked adrenal hypoplasia congenita.
J. Nakae
,
S. Abe
,
+6 authors
K. Fujieda
Journal of Clinical Endocrinology and Metabolism
1997
Corpus ID: 36403843
The DAX-1 [DSS (dosage sensitive sex)-AHC critical region on the X, gene 1] gene is responsible for X-linked adrenal hypoplasia…
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Highly Cited
1996
Highly Cited
1996
Truncation at the C-terminus of the DAX-1 protein impairs its biological actions in patients with X-linked adrenal hypoplasia congenita.
J. Nakae
,
T. Tajima
,
+8 authors
Kenji Fujieda
Journal of Clinical Endocrinology and Metabolism
1996
Corpus ID: 31809980
The DAX-1 [DSS (dosage-sensitive sex)-AHC critical region in the X, gene 1] gene has been reported to be responsible for X-linked…
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Review
1996
Review
1996
Transgenic mice in the analysis of reproductive development and function.
K. Nishimori
,
M. Matzuk
Reviews of reproduction
1996
Corpus ID: 18425637
Transgenic mice have become important model systems for studying molecular, cellular, organ, and whole animal physiology. In…
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Highly Cited
1990
Highly Cited
1990
Transendoscopic contact neodymium:yttrium aluminum garnet laser correction of epiglottic entrapment in standing horses.
Tulleners Ep
Journal of the American Veterinary Medical…
1990
Corpus ID: 222071929
Fifty-seven Standardbred and 44 Thoroughbred racehorses and 1 Thoroughbred polo mare with primary clinical signs of exercise…
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Highly Cited
1987
Highly Cited
1987
Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions.
U. Francke
,
J. Harper
,
+7 authors
J. Harpey
American Journal of Human Genetics
1987
Corpus ID: 43295200
Glycerol kinase deficiency (GKD) is an X-linked recessive trait that occurs in association with congenital adrenal hypoplasia (AH…
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1982
1982
CONCORDANCE OF X-LINKED GLYCEROL KINASE DEFICIENCY WITH X-LINKED CONGENITAL ADRENAL HYPOPLASIA
J. Bartley
,
DebraK Miller
,
J. Hayford
,
E. McCabe
The Lancet
1982
Corpus ID: 27873955
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