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GLUCOCORTICOID DEFICIENCY 1
Known as:
FGD1
, ADRENAL UNRESPONSIVENESS TO ACTH
, ACTH Resistance
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National Institutes of Health
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Related topics
Related topics
9 relations
Broader (2)
Adrenal gland hypofunction
Steroid Metabolism, Inborn Errors
Autosomal recessive inheritance
Comatose
Failure to Thrive
Hyperpigmentation
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Review
2017
Review
2017
Towards attaining equity and satisfaction in water allocation mechanism for irrigated agriculture in Northern Nigeria
Jeleel Abiola Balyaminu
2017
Corpus ID: 157078990
Mechanism for water allocation in the irrigated agriculture has been subject of conflict and challenges in sub-Sahara Africa (SSA…
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2016
2016
A novel FGD1 mutation in a family with Aarskog–Scott syndrome and predominant features of congenital joint contractures
L. Griffin
,
F. Farley
,
A. Antonellis
,
C. Keegan
Cold Spring Harbor molecular case studies
2016
Corpus ID: 14618491
Mutations in FGD1 cause Aarskog–Scott syndrome (AAS), an X-linked condition characterized by abnormal facial, skeletal, and…
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Review
2016
Review
2016
Minireview : Role of Genetic Changes of Faciogenital 1 Dysplasia Protein 1 in Human Disease 2 3
N. Pedigo
,
Danielle Van Delden
,
Christopher L. Farrell
2016
Corpus ID: 5704901
3 Running Title: FGD1 in Human Disease 4 5
2016
2016
Discovery and characterization of an F 420-dependent glucose-6-phosphate dehydrogenase ( Rh-FGD 1 ) from Rhodococcus jostii
Quoc-Thai Nguyen
,
G. Trinco
,
C. Binda
,
A. Mattevi
,
M. Fraaije
2016
Corpus ID: 145042717
Cofactor F420, a 5-deazaflavin involved in obligatory hydride transfer, is widely distributed among archaeal methanogens and…
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2014
2014
No association between FGD1 gene polymorphisms and intellectual developmental disability in the Qinba mountain area.
J. Li
,
Y. J. Li
,
+6 authors
X. C. Gao
Genetics and Molecular Research
2014
Corpus ID: 24275620
FGD1 encoding a guanine nucleotide exchange factor, specifically activates Rho GTPase cell division cycle 42 (Cdc42). Dysfunction…
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2011
2011
Fraternal twins with Aarskog–Scott syndrome due to maternal germline mosaicism
L. Pilozzi-Edmonds
,
T. Maher
,
+4 authors
A. Alfares
American Journal of Medical Genetics. Part A
2011
Corpus ID: 25387166
Aarskog–Scott syndrome is a rare X‐linked recessive disorder with characteristic facial, skeletal, and genital abnormalities. We…
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2008
2008
FGD1 (Rv0407) from Mycobacterium tuberculosis
G. Bashiri
,
C. Squire
,
N. Moreland
,
E. Baker
2008
Corpus ID: 204041893
2006
2006
Retraso mental inespecífico ligado al cromosoma X
F. Castellano
2006
Corpus ID: 57590205
Introduccion. El retraso mental inespecifico se define por la ausencia de rasgos somaticos, neurologicos, bioquimicos o…
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2005
2005
Mild Optic Nerve Hypoplasia with Retinal Venous Tortuosity in Aarskog (Facial-Digital-Genital) Syndrome
A. Jogiya
,
C. Sandy
Ophthalmic Genetics
2005
Corpus ID: 238913
Aarskog syndrome (faciogenital dysplasia) is an X-linked recessive genetic growth disorder characterized by short stature…
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2001
2001
Syndrome of short stature, widow's peak, ptosis, posteriorly angulated ears, and joint problems: exclusion of the Aarskog (FGD1) gene as a candidate gene.
B. J. LaDine
,
J. Simmons
,
A. Shrimpton
,
J. Hoo
American journal of medical genetics
2001
Corpus ID: 40755472
A syndrome encompassing postnatal onset of short stature, widow's peak, ptosis, posteriorly angulated ears, and limitation of…
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