219 related articles for article (PubMed ID: 21029627)
1. [Clinical features of 9 patients with X-linked adrenal hypoplasia congenita caused by DAX1/NR0B1 gene mutations].
Fu Y; Nie M; Xia WB; Lu L; Mao JF; Pan H; Wu XY; Zhao WG
Zhonghua Yi Xue Za Zhi; 2010 Aug; 90(30):2119-22. PubMed ID: 21029627
[TBL] [Abstract][Full Text] [Related]
2. Case Report: A Novel Truncating Variant of
Zhu F; Zhou M; Deng X; Li Y; Xiong J
Front Endocrinol (Lausanne); 2022; 13():897069. PubMed ID: 35784540
[TBL] [Abstract][Full Text] [Related]
3. A novel mutation in the NR0B1 (DAX1) gene in a large family with two boys affected by congenital adrenal hypoplasia.
Rojek A; Flader M; Malecka E; Niedziela M
Hormones (Athens); 2014; 13(3):413-9. PubMed ID: 25079468
[TBL] [Abstract][Full Text] [Related]
4. Clinical and molecular characterization of five Spanish kindreds with X-linked adrenal hypoplasia congenita: atypical findings and a novel mutation in NR0B1.
Rodríguez Estévez A; Pérez-Nanclares G; Fernández-Toral J; Rivas-Crespo F; López-Siguero JP; Díez I; Grau G; Castaño L
J Pediatr Endocrinol Metab; 2015 Sep; 28(9-10):1129-37. PubMed ID: 26030781
[TBL] [Abstract][Full Text] [Related]
5. Novel mutations of DAX1 (NR0B1) in two Chinese families with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism.
Qin G; Ji H; Li X; Ma X; Wang D
J Pediatr Endocrinol Metab; 2015 Jul; 28(7-8):809-14. PubMed ID: 25968435
[TBL] [Abstract][Full Text] [Related]
6. A novel DAX1/NR0B1 mutation in a patient with adrenal hypoplasia congenita and hypogonadotropic hypogonadism.
Battistin C; Menezes Filho HC; Domenice S; Nishi MY; Della Manna T; Kuperman H; Steinmetz L; Dichtchekenian V; Setian N; Damiani D
Arq Bras Endocrinol Metabol; 2012 Nov; 56(8):496-500. PubMed ID: 23295288
[TBL] [Abstract][Full Text] [Related]
7. Multiplex ligation-dependent probe amplification analysis of the NR0B1(DAX1) locus enables explanation of phenotypic differences in patients with X-linked congenital adrenal hypoplasia.
Barbaro M; Bens S; Haake A; Peter M; Brämswig J; Holterhus PM; Lopez-Siguero JP; Menken U; Mix M; Sippell WG; Wedell A; Riepe FG
Horm Res Paediatr; 2012; 77(2):100-7. PubMed ID: 22456342
[TBL] [Abstract][Full Text] [Related]
8. Spontaneous fertility and variable spectrum of reproductive phenotype in a family with adult-onset X-linked adrenal insufficiency harboring a novel DAX-1/NR0B1 mutation.
Vargas MCC; Moura FS; Elias CP; Carvalho SR; Rassi N; Kunii IS; Dias-da-Silva MR; Costa-Barbosa FA
BMC Endocr Disord; 2020 Feb; 20(1):21. PubMed ID: 32028936
[TBL] [Abstract][Full Text] [Related]
9. X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism: Identification and in vitro study of a novel small indel in the NR0B1 gene.
Yu T; Wang J; Yu Y; Huang X; Fu Q; Shen Y; Chen F
Mol Med Rep; 2016 May; 13(5):4039-45. PubMed ID: 27035099
[TBL] [Abstract][Full Text] [Related]
10. Gonadotropin-dependent precocious puberty in a patient with X-linked adrenal hypoplasia congenita caused by a novel DAX-1 mutation.
Darcan S; Goksen D; Ozen S; Ozkinay F; Durmaz B; Lalli E
Horm Res Paediatr; 2011 Feb; 75(2):153-6. PubMed ID: 20975255
[TBL] [Abstract][Full Text] [Related]
11. Late onset X-linked adrenal hypoplasia congenita with hypogonadotropic hypgonadism due to a novel 4-bp deletion in exon 2 of NR0B1.
Ali JM; Jalaludin MY; Harun F
J Pediatr Endocrinol Metab; 2014 Nov; 27(11-12):1189-92. PubMed ID: 25003377
[TBL] [Abstract][Full Text] [Related]
12. Novel mutations and spectrum of the disease of NR0B1 (DAX1)-related adrenal insufficiency in Indian children.
Gupta S; Joshi K; Zaidi G; Sarangi AN; Mandal K; Bhavani N; Pavithran PV; Pillai MG; Singh SK; Godbole T; Bhatia V; Bhatia E
J Pediatr Endocrinol Metab; 2019 Aug; 32(8):863-869. PubMed ID: 31219797
[TBL] [Abstract][Full Text] [Related]
13. Identification of a novel mutation of NR0B1 in a patient with X-linked adrenal hypoplasia and symptomatic treatment.
Yang J; Lv Y; Zhou Y; Xiao X
J Pediatr Endocrinol Metab; 2017 Nov; 30(12):1299-1304. PubMed ID: 29176027
[TBL] [Abstract][Full Text] [Related]
14. Longitudinal evaluation of the hypothalamic-pituitary-testicular function in 8 boys with adrenal hypoplasia congenita (AHC) due to NR0B1 mutations.
Galeotti C; Lahlou Z; Goullon D; Sarda-Thibault H; Cahen-Varsaux J; Bignon-Topalovic J; Bashamboo A; McElreavey K; Brauner R
PLoS One; 2012; 7(6):e39828. PubMed ID: 22761912
[TBL] [Abstract][Full Text] [Related]
15. Two novel DAX1 gene mutations in Chinese patients with X-linked adrenal hypoplasia congenita: clinical, hormonal and genetic analysis.
Wu CM; Zhang HB; Zhou Q; Wan L; Jin J; Ni L; Pan YJ; Wu XY; Ruan LY
J Endocrinol Invest; 2011 Sep; 34(8):e235-9. PubMed ID: 21270512
[TBL] [Abstract][Full Text] [Related]
16. Birth after TESE-ICSI in a man with hypogonadotropic hypogonadism and congenital adrenal hypoplasia linked to a DAX-1 (NR0B1) mutation.
Frapsauce C; Ravel C; Legendre M; Sibony M; Mandelbaum J; Donadille B; Achermann JC; Siffroi JP; Christin-Maitre S
Hum Reprod; 2011 Mar; 26(3):724-8. PubMed ID: 21227944
[TBL] [Abstract][Full Text] [Related]
17. Clinical and genetic characteristics of 42 Chinese paediatric patients with X-linked adrenal hypoplasia congenita.
Zheng W; Duan Y; Xia Y; Liang L; Gong Z; Wang R; Lu D; Zhang K; Yang Y; Sun Y; Zhang H; Han L; Gong Z; Xiao B; Qiu W
Orphanet J Rare Dis; 2023 May; 18(1):126. PubMed ID: 37237297
[TBL] [Abstract][Full Text] [Related]
18. [Dysfunction of hypothalamic-pituitary-testicular axis in patients with adrenal hypoplasia congenita due to DAX-1 gene mutation].
Zheng JJ; Wu XY; Nie M; Liu ZX; Wang X; Huang BK; Fu Y; Lu L; Duan L; Mao JF
Zhonghua Yi Xue Za Zhi; 2016 Apr; 96(15):1183-7. PubMed ID: 27117364
[TBL] [Abstract][Full Text] [Related]
19. A Case of X-Linked Adrenal Hypoplasia Congenital (AHC) Due to Large Deletion of
Shin C; Kim SE; Moon CJ; Yoo IH; Yim J; Cho WK; Kim M; Lee JH
Ann Clin Lab Sci; 2023 Jul; 53(4):667-670. PubMed ID: 37625843
[TBL] [Abstract][Full Text] [Related]
20. Isolated hypoaldosteronism as first sign of X-linked adrenal hypoplasia congenita caused by a novel mutation in NR0B1/DAX-1 gene: a case report.
Iughetti L; Lucaccioni L; Bruzzi P; Ciancia S; Bigi E; Madeo SF; Predieri B; Roucher-Boulez F
BMC Med Genet; 2019 Jun; 20(1):98. PubMed ID: 31164167
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
