BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

299 related articles for article (PubMed ID: 30815925)

  • 1. 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]  

  • 2. AR and SRD5A2 gene mutations in a series of 51 Turkish 46,XY DSD children with a clinical diagnosis of androgen insensitivity.
    Akcay T; Fernandez-Cancio M; Turan S; Güran T; Audi L; Bereket A
    Andrology; 2014 Jul; 2(4):572-8. PubMed ID: 24737579
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Comparison between two inhibin B ELISA assays in 46,XY testicular disorders of sex development (DSD) with normal testosterone secretion.
    Guaragna-Filho G; Calixto AR; De Paula GB; De Oliveira LC; Morcillo AM; De Mello MP; Maciel-Guerra AT; Guerra-Junior G
    J Pediatr Endocrinol Metab; 2018 Jan; 31(2):191-194. PubMed ID: 29306929
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Novel mutations of the SRD5A2 and AR genes in Thai patients with 46, XY disorders of sex development.
    Ittiwut C; Pratuangdejkul J; Supornsilchai V; Muensri S; Hiranras Y; Sahakitrungruang T; Watcharasindhu S; Suphapeetiporn K; Shotelersuk V
    J Pediatr Endocrinol Metab; 2017 Jan; 30(1):19-26. PubMed ID: 27849622
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Clinical characteristics and molecular genetics of complete androgen insensitivity syndrome patients: a series study of 30 cases from a Chinese tertiary medical center.
    Zhang D; Yao F; Tian T; Deng S; Luo M; Tian Q
    Fertil Steril; 2021 May; 115(5):1270-1279. PubMed ID: 33602557
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Next-generation sequencing reveals genetic landscape in 46, XY disorders of sexual development patients with variable phenotypes.
    Wang H; Zhang L; Wang N; Zhu H; Han B; Sun F; Yao H; Zhang Q; Zhu W; Cheng T; Cheng K; Liu Y; Zhao S; Song H; Qiao J
    Hum Genet; 2018 Mar; 137(3):265-277. PubMed ID: 29582157
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Novel Deleterious Mutation in Steroid-5α-Reductase-2 in 46, XY Disorders of Sex Development: Case Report Study.
    Rafigh M; Salmaninejad A; Sorouri Khorashad B; Arabi A; Milanizadeh S; Hiradfar M; Abbaszadegan MR
    Fetal Pediatr Pathol; 2022 Feb; 41(1):141-148. PubMed ID: 32449406
    [No Abstract]   [Full Text] [Related]  

  • 9. 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]  

  • 10. Late diagnosis of 5alpha steroid-reductase deficiency due to IVS12A>G mutation of the SRD5a2 gene in an adolescent girl presented with primary amenorrhea.
    Skordis N; Shammas C; Efstathiou E; Sertedaki A; Neocleous V; Phylactou L
    Hormones (Athens); 2011; 10(3):230-5. PubMed ID: 22001134
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Molecular genetics of disorders of sex development in a highly consanguineous population.
    Alswailem M; Alsagheir A; Abbas BB; Alzahrani O; Alzahrani AS
    J Steroid Biochem Mol Biol; 2021 Apr; 208():105736. PubMed ID: 32784047
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Molecular diagnosis of 5α-reductase type II deficiency in Brazilian siblings with 46,XY disorder of sex development.
    Leme de Calais FL; Soardi FC; Petroli RJ; Lusa AL; de Paiva E Silva RB; Maciel-Guerra AT; Guerra-Júnior G; de Mello MP
    Int J Mol Sci; 2011; 12(12):9471-80. PubMed ID: 22272144
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development.
    Audi L; Fernández-Cancio M; Carrascosa A; Andaluz P; Torán N; Piró C; Vilaró E; Vicens-Calvet E; Gussinyé M; Albisu MA; Yeste D; Clemente M; Hernández de la Calle I; Del Campo M; Vendrell T; Blanco A; Martínez-Mora J; Granada ML; Salinas I; Forn J; Calaf J; Angerri O; Martínez-Sopena MJ; Del Valle J; García E; Gracia-Bouthelier R; Lapunzina P; Mayayo E; Labarta JI; Lledó G; Sánchez Del Pozo J; Arroyo J; Pérez-Aytes A; Beneyto M; Segura A; Borrás V; Gabau E; Caimarí M; Rodríguez A; Martínez-Aedo MJ; Carrera M; Castaño L; Andrade M; Bermúdez de la Vega JA;
    J Clin Endocrinol Metab; 2010 Apr; 95(4):1876-88. PubMed ID: 20150575
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Molecular diagnosis of 46,XY DSD and identification of a novel 8 nucleotide deletion in exon 1 of the SRD5A2 gene.
    Nagaraja MR; Rastogi A; Raman R; Gupta DK; Singh SK
    J Pediatr Endocrinol Metab; 2010 Apr; 23(4):379-85. PubMed ID: 20583543
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 15.