146 related articles for article (PubMed ID: 36496321)
1. Utility of genetic work-up for 46, XY patients with severe hypospadias.
Srivastava P; Tenney J; Lodish M; Slavotinek A; Baskin L
J Pediatr Urol; 2023 Jun; 19(3):261-272. PubMed ID: 36496321
[TBL] [Abstract][Full Text] [Related]
2. Correlation of androgen receptor and SRD5A2 gene mutations with pediatric hypospadias in 46, XY DSD children.
Fu XH; Zhang WQ; Qu XS
Genet Mol Res; 2016 Mar; 15(1):15018232. PubMed ID: 27051040
[TBL] [Abstract][Full Text] [Related]
3. The genetic spectrum of a Chinese series of patients with 46, XY disorders of the sex development.
Zhang W; Mao J; Wang X; Zhao Z; Zhang X; Sun B; Cao Y; Nie M; Wu X
Andrology; 2024 Jan; 12(1):98-108. PubMed ID: 37147882
[TBL] [Abstract][Full Text] [Related]
4. Screening of MAMLD1 mutations in 70 children with 46,XY DSD: identification and functional analysis of two new mutations.
Kalfa N; Fukami M; Philibert P; Audran F; Pienkowski C; Weill J; Pinto G; Manouvrier S; Polak M; Ogata T; Sultan C
PLoS One; 2012; 7(3):e32505. PubMed ID: 22479329
[TBL] [Abstract][Full Text] [Related]
5. Proximal Hypospadias and a Novel
Dabrowski E; Armstrong AE; Leeth E; Johnson E; Cheng E; Gosiengfiao Y; Finlayson C
Pediatrics; 2018 Apr; 141(Suppl 5):S491-S495. PubMed ID: 29610178
[TBL] [Abstract][Full Text] [Related]
6. Targeted Next-Generation Sequencing for the Diagnosis of Gene Variants in Patients with 46,XY Disorder of Sex Development.
Guo Q; Zhong WW; Lai HJ; Ye L; Zhang YF; Li JT; Qiu JG; Wang J
Sex Dev; 2023; 17(1):26-31. PubMed ID: 36689917
[TBL] [Abstract][Full Text] [Related]
7. Mutations in
Akcan N; Uyguner O; Baş F; Altunoğlu U; Toksoy G; Karaman B; Avcı Ş; Yavaş Abalı Z; Poyrazoğlu Ş; Aghayev A; Karaman V; Bundak R; Başaran S; Darendeliler F
J Clin Res Pediatr Endocrinol; 2022 Jun; 14(2):153-171. PubMed ID: 35135181
[TBL] [Abstract][Full Text] [Related]
8. Phenotype and genetic characteristics in 20 Chinese patients with 46,XY disorders of sex development.
Zheng GY; Chu GM; Li PP; He R
J Endocrinol Invest; 2023 Aug; 46(8):1613-1622. PubMed ID: 36745277
[TBL] [Abstract][Full Text] [Related]
9. New insights into 5α-reductase type 2 deficiency based on a multi-centre study: regional distribution and genotype-phenotype profiling of
Gui B; Song Y; Su Z; Luo FH; Chen L; Wang X; Chen R; Yang Y; Wang J; Zhao X; Fan L; Liu X; Wang Y; Chen S; Gong C
J Med Genet; 2019 Oct; 56(10):685-692. PubMed ID: 31186340
[TBL] [Abstract][Full Text] [Related]
10. Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development.
Rjiba K; Mougou-Zerelli S; Hamida IH; Saad G; Khadija B; Jelloul A; Slimani W; Hasni Y; Dimassi S; Khelifa HB; Sallem A; Kammoun M; Abdallah HH; Gribaa M; Bignon-Topalovic J; Chelly S; Khairi H; Bibi M; Kacem M; Saad A; Bashamboo A; McElreavey K
Reprod Biol Endocrinol; 2023 Jan; 21(1):2. PubMed ID: 36631813
[TBL] [Abstract][Full Text] [Related]
11. 46 XY disorder of sex development (DSD) due to 5 alpha (SRD5A2) deficiency - Experience from a multidisciplinary Pediatric Gender Clinic.
Bose S; Das K; George B; Raman V; Shubha AM; Mahadevappa K; Kumar P; Bantwal G; Ayyar V; Deb M
J Pediatr Urol; 2022 Aug; 18(4):492.e1-492.e8. PubMed ID: 35668006
[TBL] [Abstract][Full Text] [Related]
12. Comprehensive molecular analysis identifies eight novel variants in XY females with disorders of sex development.
Kulkarni V; Chellasamy SK; Dhangar S; Ghatanatti J; Vundinti BR
Mol Hum Reprod; 2023 Jan; 29(2):. PubMed ID: 36617173
[TBL] [Abstract][Full Text] [Related]
13. Polymorphisms of MAMLD1, SRD5A2, and AR Candidate Genes in Seven Dogs (78,XY; SRY-Positive) Affected by Hypospadias or Cryptorchidism.
Krzemińska P; D'Anza E; Ciotola F; Paciello O; Restucci B; Peretti V; Albarella S; Switonski M
Sex Dev; 2019; 13(2):92-98. PubMed ID: 31055572
[TBL] [Abstract][Full Text] [Related]
14. Yield of modern genetic evaluation for patients with proximal hypospadias and descended gonads.
Rowe CK; Adam MP; Ahn JJ; Merguerian PA; Shnorhavorian M
J Pediatr Urol; 2019 Oct; 15(5):527.e1-527.e6. PubMed ID: 31537436
[TBL] [Abstract][Full Text] [Related]
15. Advances in genomic diagnosis of a large cohort of Egyptian patients with disorders of sex development.
Mazen I; Mekkawy M; Kamel A; Essawi M; Hassan H; Abdel-Hamid M; Amr K; Soliman H; El-Ruby M; Torky A; El Gammal M; Elaidy A; Bashamboo A; McElreavey K
Am J Med Genet A; 2021 Jun; 185(6):1666-1677. PubMed ID: 33742552
[TBL] [Abstract][Full Text] [Related]
16. Analysis of the Wilms' tumor suppressor gene (WT1) in patients 46,XY disorders of sex development.
Köhler B; Biebermann H; Friedsam V; Gellermann J; Maier RF; Pohl M; Wieacker P; Hiort O; Grüters A; Krude H
J Clin Endocrinol Metab; 2011 Jul; 96(7):E1131-6. PubMed ID: 21508141
[TBL] [Abstract][Full Text] [Related]
17. Molecular genetics and phenotype/genotype correlation of 5-α reductase deficiency in a highly consanguineous population.
Alswailem MM; Alzahrani OS; Alghofaili L; Qasem E; Almohanaa M; Alsagheir A; Bin Abbas B; Attia NA; Al Shaikh A; Alzahrani AS
Endocrine; 2019 Feb; 63(2):361-368. PubMed ID: 30269266
[TBL] [Abstract][Full Text] [Related]
18. Molecular diagnostics of disorders of sexual development: an Indian survey and systems biology perspective.
Nagaraja MR; Gubbala SP; Delphine Silvia CRW; Amanchy R
Syst Biol Reprod Med; 2019 Apr; 65(2):105-120. PubMed ID: 30550360
[TBL] [Abstract][Full Text] [Related]
19. Clinical, Hormonal, and Genetic Characteristics of 5α-Reductase Type 2 Deficiency in 103 Chinese Patients.
Liu Q; Yin X; Li P
Endocr Pract; 2022 Sep; 28(9):859-866. PubMed ID: 35700942
[TBL] [Abstract][Full Text] [Related]
20. Unexpected ethical dilemmas in sex assignment in 46,XY DSD due to 5-alpha reductase type 2 deficiency.
Byers HM; Mohnach LH; Fechner PY; Chen M; Thomas IH; Ramsdell LA; Shnorhavorian M; McCauley EA; Amies Oelschlager AE; Park JM; Sandberg DE; Adam MP; Keegan CE
Am J Med Genet C Semin Med Genet; 2017 Jun; 175(2):260-267. PubMed ID: 28544750
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]