241 related articles for article (PubMed ID: 36631813)
1. 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]
2. 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]
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. 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]
5. Etiological diagnosis of undervirilized male/XY disorder of sex development.
Atta I; Ibrahim M; Parkash A; Lone SW; Khan YN; Raza J
J Coll Physicians Surg Pak; 2014 Oct; 24(10):714-8. PubMed ID: 25327912
[TBL] [Abstract][Full Text] [Related]
6. Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome.
McElreavey K; Jorgensen A; Eozenou C; Merel T; Bignon-Topalovic J; Tan DS; Houzelstein D; Buonocore F; Warr N; Kay RGG; Peycelon M; Siffroi JP; Mazen I; Achermann JC; Shcherbak Y; Leger J; Sallai A; Carel JC; Martinerie L; Le Ru R; Conway GS; Mignot B; Van Maldergem L; Bertalan R; Globa E; Brauner R; Jauch R; Nef S; Greenfield A; Bashamboo A
Genet Med; 2020 Jan; 22(1):150-159. PubMed ID: 31337883
[TBL] [Abstract][Full Text] [Related]
7. Genetics of 46,XY gonadal dysgenesis.
Elzaiat M; McElreavey K; Bashamboo A
Best Pract Res Clin Endocrinol Metab; 2022 Jan; 36(1):101633. PubMed ID: 35249806
[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. 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]
10. The earlier described mutation (c.307c > T [p.R103X]) in the SRD5A2 gene causing a 46,XY female phenotype.
Simsek E; Binay C; Ceylaner S
J Pediatr Endocrinol Metab; 2012; 25(5-6):543-5. PubMed ID: 22876553
[TBL] [Abstract][Full Text] [Related]
11. Molecular investigation of mutations in androgen receptor and 5-alpha-reductase-2 genes in 46,XY Disorders of Sex Development with normal testicular development.
Ahmadifard M; Kajbafzadeh A; Panjeh-Shahi S; Vand-Rajabpour F; Ahmadi-Beni R; Arshadi H; Setoodeh A; Rostami P; Tavakkoly-Bazzaz J; Tabrizi M
Andrologia; 2019 Jun; 51(5):e13250. PubMed ID: 30815925
[TBL] [Abstract][Full Text] [Related]
12. Novel Genomic Variants, Atypical Phenotypes and Evidence of a Digenic/Oligogenic Contribution to Disorders/Differences of Sex Development in a Large North African Cohort.
Zidoune H; Ladjouze A; Chellat-Rezgoune D; Boukri A; Dib SA; Nouri N; Tebibel M; Sifi K; Abadi N; Satta D; Benelmadani Y; Bignon-Topalovic J; El-Zaiat-Munsch M; Bashamboo A; McElreavey K
Front Genet; 2022; 13():900574. PubMed ID: 36110220
[TBL] [Abstract][Full Text] [Related]
13. A Homozygous Missense Variant in Hedgehog Acyltransferase (HHAT) Gene Associated with 46,XY Gonadal Dysgenesis.
Mazen I; Kamel A; McElreavey K; Bashamboo A; Elaidy A; Abdel-Hamid MS
Sex Dev; 2022; 16(4):261-265. PubMed ID: 35045414
[TBL] [Abstract][Full Text] [Related]
14. Expanding DSD Phenotypes Associated with Variants in the DEAH-Box RNA Helicase DHX37.
Zidoune H; Martinerie L; Tan DS; Askari M; Rezgoune D; Ladjouze A; Boukri A; Benelmadani Y; Sifi K; Abadi N; Satta D; Rastari M; Seresht-Ahmadi M; Bignon-Topalovic J; Mazen I; Leger J; Simon D; Brauner R; Totonchi M; Jauch R; Bashamboo A; McElreavey K
Sex Dev; 2021; 15(4):244-252. PubMed ID: 34293745
[TBL] [Abstract][Full Text] [Related]
15. Detection of 46, XY Disorder of Sex Development (DSD) Based on Plasma Cell-Free DNA and Targeted Next-Generation Sequencing.
De Falco L; Piscopo C; D'Angelo R; Evangelista E; Suero T; Sirica R; Ruggiero R; Savarese G; Di Carlo A; Furino G; Scarpato C; Fico A
Genes (Basel); 2021 Nov; 12(12):. PubMed ID: 34946839
[TBL] [Abstract][Full Text] [Related]
16. Case Report: Novel Compound Heterozygotic Variants in
Zhang W; Mao J; Wang X; Sun B; Zhao Z; Zhang X; Nie M; Wu X
Front Genet; 2022; 13():871328. PubMed ID: 35812758
[No Abstract] [Full Text] [Related]
17. Anomalies in Human Sex Determination: Usefulness of a Combined Cytogenetic Approach to Characterize an Additional Case with Xp Functional Disomy Associated with 46,XY Gonadal Dysgenesis.
Rjiba K; Slimani W; Gaddas M; Hassine IH; Jelloul A; Khelifa HB; El Amri F; Zaouali M; Mcelreavey K; Saad A; Mougou-Zerelli S
J Clin Res Pediatr Endocrinol; 2023 Feb; 15(1):25-34. PubMed ID: 35984215
[TBL] [Abstract][Full Text] [Related]
18. Identification of novel candidate genes for 46,XY disorders of sex development (DSD) using a C57BL/6J-Y
Barseghyan H; Symon A; Zadikyan M; Almalvez M; Segura EE; Eskin A; Bramble MS; Arboleda VA; Baxter R; Nelson SF; Délot EC; Harley V; Vilain E
Biol Sex Differ; 2018 Jan; 9(1):8. PubMed ID: 29378665
[TBL] [Abstract][Full Text] [Related]
19. A large cohort of disorders of sex development and their genetic characteristics: 6 novel mutations in known genes.
Ata A; Özen S; Onay H; Uzun S; Gökşen D; Özkınay F; Özbaran NB; Ulman İ; Darcan Ş
Eur J Med Genet; 2021 Mar; 64(3):104154. PubMed ID: 33516834
[TBL] [Abstract][Full Text] [Related]
20. Familial forms of disorders of sex development may be common if infertility is considered a comorbidity.
Brauner R; Picard-Dieval F; Lottmann H; Rouget S; Bignon-Topalovic J; Bashamboo A; McElreavey K
BMC Pediatr; 2016 Nov; 16(1):195. PubMed ID: 27899089
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]