299 related articles for article (PubMed ID: 27169744)
1. Identification of NR5A1 Mutations and Possible Digenic Inheritance in 46,XY Gonadal Dysgenesis.
Mazen I; Abdel-Hamid M; Mekkawy M; Bignon-Topalovic J; Boudjenah R; El Gammal M; Essawi M; Bashamboo A; McElreavey K
Sex Dev; 2016; 10(3):147-51. PubMed ID: 27169744
[TBL] [Abstract][Full Text] [Related]
2. Four Novel NR5A1 Mutations in 46,XY Gonadal Dysgenesis Patients Including Frameshift Mutations with Altered Subcellular SF-1 Localization.
Rehkämper J; Tewes AC; Horvath J; Scherer G; Wieacker P; Ledig S
Sex Dev; 2017; 11(5-6):248-253. PubMed ID: 29190620
[TBL] [Abstract][Full Text] [Related]
3. Update--steroidogenic factor 1 (SF-1, NR5A1).
Köhler B; Achermann JC
Minerva Endocrinol; 2010 Jun; 35(2):73-86. PubMed ID: 20595937
[TBL] [Abstract][Full Text] [Related]
4. Novel mutation of MAP3K1 gene in 46,XY DSD with complete gonadal dysgenesis.
Yu PH; Tsai MC; Chiang CT; Wang HY; Kuo PL
Taiwan J Obstet Gynecol; 2022 Sep; 61(5):903-905. PubMed ID: 36088066
[TBL] [Abstract][Full Text] [Related]
5. NR5A1 c.991-1G > C splice-site variant causes familial 46,XY partial gonadal dysgenesis with incomplete penetrance.
Laan M; Kasak L; Timinskas K; Grigorova M; Venclovas Č; Renaux A; Lenaerts T; Punab M
Clin Endocrinol (Oxf); 2021 Apr; 94(4):656-666. PubMed ID: 33296094
[TBL] [Abstract][Full Text] [Related]
6. Two novel mutations in the NR5A1 gene as a cause of disorders of sex development in a Pakistani cohort of 46,XY patients.
Hussain S; Amar A; Najeeb MN; Khaliq S
Andrologia; 2016 Jun; 48(5):509-17. PubMed ID: 26260161
[TBL] [Abstract][Full Text] [Related]
7. New NR5A1 mutations and phenotypic variations of gonadal dysgenesis.
Werner R; Mönig I; Lünstedt R; Wünsch L; Thorns C; Reiz B; Krause A; Schwab KO; Binder G; Holterhus PM; Hiort O
PLoS One; 2017; 12(5):e0176720. PubMed ID: 28459839
[TBL] [Abstract][Full Text] [Related]
8. Analysis of the gene coding for steroidogenic factor 1 (SF1, NR5A1) in a cohort of 50 Egyptian patients with 46,XY disorders of sex development.
Tantawy S; Mazen I; Soliman H; Anwar G; Atef A; El-Gammal M; El-Kotoury A; Mekkawy M; Torky A; Rudolf A; Schrumpf P; Grüters A; Krude H; Dumargne MC; Astudillo R; Bashamboo A; Biebermann H; Köhler B
Eur J Endocrinol; 2014 May; 170(5):759-67. PubMed ID: 24591553
[TBL] [Abstract][Full Text] [Related]
9. Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals.
Domenice S; Machado AZ; Ferreira FM; Ferraz-de-Souza B; Lerario AM; Lin L; Nishi MY; Gomes NL; da Silva TE; Silva RB; Correa RV; Montenegro LR; Narciso A; Costa EM; Achermann JC; Mendonca BB
Birth Defects Res C Embryo Today; 2016 Dec; 108(4):309-320. PubMed ID: 28033660
[TBL] [Abstract][Full Text] [Related]
10. Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency.
Köhler B; Lin L; Ferraz-de-Souza B; Wieacker P; Heidemann P; Schröder V; Biebermann H; Schnabel D; Grüters A; Achermann JC
Hum Mutat; 2008 Jan; 29(1):59-64. PubMed ID: 17694559
[TBL] [Abstract][Full Text] [Related]
11. NR5A1-related 46,XY partial gonadal dysgenesis: A case report and literature review.
Wei X; Li S; He Y
Medicine (Baltimore); 2023 Dec; 102(52):e36725. PubMed ID: 38206718
[TBL] [Abstract][Full Text] [Related]
12. Pathogenic Variants in MAP3K1 Cause 46,XY Gonadal Dysgenesis: A Review.
Ostrer H
Sex Dev; 2022; 16(2-3):92-97. PubMed ID: 35290982
[TBL] [Abstract][Full Text] [Related]
13. Complete XY gonadal dysgenesis due to p.D293N homozygous mutation in the NR5A1 gene: a case study.
Soardi FC; Coeli FB; Maciel-Guerra AT; Guerra-Júnior G; Mello MP
J Appl Genet; 2010; 51(2):223-4. PubMed ID: 20453312
[TBL] [Abstract][Full Text] [Related]
14. Novel pathogenic mutations in disorders of sex development associated genes cause 46,XY complete gonadal dysgenesis.
Xue M; Wang X; Li C; Zhao M; He F; Li X
Gene; 2019 Nov; 718():144072. PubMed ID: 31446095
[TBL] [Abstract][Full Text] [Related]
15. Mutation analysis of NR5A1 encoding steroidogenic factor 1 in 77 patients with 46, XY disorders of sex development (DSD) including hypospadias.
Allali S; Muller JB; Brauner R; Lourenço D; Boudjenah R; Karageorgou V; Trivin C; Lottmann H; Lortat-Jacob S; Nihoul-Fékété C; De Dreuzy O; McElreavey K; Bashamboo A
PLoS One; 2011; 6(10):e24117. PubMed ID: 22028768
[TBL] [Abstract][Full Text] [Related]
16. Characteristic testicular histology is useful for the identification of NR5A1 gene mutations in prepubertal 46,XY patients.
Nishina-Uchida N; Fukuzawa R; Numakura C; Suwanai AS; Hasegawa T; Hasegawa Y
Horm Res Paediatr; 2013; 80(2):119-28. PubMed ID: 23969951
[TBL] [Abstract][Full Text] [Related]
17. A novel missense heterozygous mutation in MAP3K1 gene causes 46, XY disorder of sex development: case report and literature review.
Al Shamsi A; Al Hassani N; Hamchou M; Almazrouei R; Mhanni A
Mol Genet Genomic Med; 2020 Nov; 8(11):e1514. PubMed ID: 32986312
[TBL] [Abstract][Full Text] [Related]
18. Characteristics and possible mechanisms of 46, XY differences in sex development caused by novel compound variants in NR5A1 and MAP3K1.
Cheng Y; Chen J; Zhou X; Yang J; Ji Y; Xu C
Orphanet J Rare Dis; 2021 Jun; 16(1):268. PubMed ID: 34112222
[TBL] [Abstract][Full Text] [Related]
19. Novel Heterozygous Genetic Variants in Patients with 46,XY Gonadal Dysgenesis.
Chauhan V; Jyotsna VP; Jain V; Khadgawat R; Dada R
Horm Metab Res; 2017 Jan; 49(1):36-42. PubMed ID: 27711951
[TBL] [Abstract][Full Text] [Related]
20. Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function.
Lin L; Philibert P; Ferraz-de-Souza B; Kelberman D; Homfray T; Albanese A; Molini V; Sebire NJ; Einaudi S; Conway GS; Hughes IA; Jameson JL; Sultan C; Dattani MT; Achermann JC
J Clin Endocrinol Metab; 2007 Mar; 92(3):991-9. PubMed ID: 17200175
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]