Detalles de la búsqueda
1.
Oligogenic Origin of Differences of Sex Development in Humans.
Int J Mol Sci
; 21(5)2020 Mar 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-32155719
2.
Characterization of Two Novel Variants of the Steroidogenic Acute Regulatory Protein Identified in a Girl with Classic Lipoid Congenital Adrenal Hyperplasia.
Int J Mol Sci
; 21(17)2020 08 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-32867102
3.
STAR splicing mutations cause the severe phenotype of lipoid congenital adrenal hyperplasia: insights from a novel splice mutation and review of reported cases.
Clin Endocrinol (Oxf)
; 80(2): 191-9, 2014 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-23859637
4.
Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations.
PLoS One
; 18(7): e0287515, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37432935
5.
Contribution of human growth hormone-releasing hormone receptor (GHRHR) gene sequence variation to isolated severe growth hormone deficiency (ISGHD) and normal adult height.
Clin Endocrinol (Oxf)
; 77(4): 564-74, 2012 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-22489751
6.
Phenotypic Variability of Patients With PAX8 Variants Presenting With Congenital Hypothyroidism and Eutopic Thyroid.
J Clin Endocrinol Metab
; 106(1): e152-e170, 2021 01 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-33029631
7.
Molecular Basis of CYP19A1 Deficiency in a 46,XX Patient With R550W Mutation in POR: Expanding the PORD Phenotype.
J Clin Endocrinol Metab
; 105(4)2020 04 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-32060549
8.
Pairing and recombination features during meiosis in Cebus paraguayanus (Primates: Platyrrhini).
BMC Genet
; 10: 25, 2009 Jun 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-19500368
9.
A Novel Homozygous AMRH2 Gene Mutation in a Patient with Persistent Müllerian Duct Syndrome.
Sex Dev
; 13(2): 87-91, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-30933950
10.
Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic Disease.
Front Genet
; 10: 746, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-31555317
11.
Isolated pulmonary interstitial glycogenosis associated with alveolar growth abnormalities: A long-term follow-up study.
Pediatr Pulmonol
; 54(6): 837-846, 2019 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-30912317
12.
Trans-generational radiation-induced chromosomal instability in the female enhances the action of chemical mutagens.
Mutat Res
; 640(1-2): 16-26, 2008 Apr 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-18206182
13.
Development of Laboratory Investigations in Disorders of Sex Development.
Sex Dev
; 12(1-3): 7-18, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-28898878
14.
Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin?
Eur J Hum Genet
; 26(9): 1329-1338, 2018 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-29891883
15.
GATA4 Variants in Individuals With a 46,XY Disorder of Sex Development (DSD) May or May Not Be Associated With Cardiac Defects Depending on Second Hits in Other DSD Genes.
Front Endocrinol (Lausanne)
; 9: 142, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-29670578
16.
Mechanism of the Dual Activities of Human CYP17A1 and Binding to Anti-Prostate Cancer Drug Abiraterone Revealed by a Novel V366M Mutation Causing 17,20 Lyase Deficiency.
Pharmaceuticals (Basel)
; 11(2)2018 Apr 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-29710837
17.
Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome.
J Clin Invest
; 127(3): 942-953, 2017 Mar 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-28165343
18.
Non-Virilizing Congenital Adrenal Hyperplasia in a Female Patient with a Novel HSD3B2 Mutation.
Sex Dev
; 10(4): 200-204, 2016.
Artículo
en Inglés
| MEDLINE | ID: mdl-27626911
19.
A novel CYP17A1 deletion causes a functional knockout of the steroid enzyme 17-hydroxylase and 17,20-lyase in a Turkish family and illustrates the precise role of the CYP17A1 gene.
Clin Case Rep
; 3(10): 793-7, 2015 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-26509008
20.
LRH-1 May Rescue SF-1 Deficiency for Steroidogenesis: An in vitro and in vivo Study.
Sex Dev
; 9(3): 144-54, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-25896302