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214 related items for PubMed ID: 34946839

  • 1. 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 25; 12(12):. PubMed ID: 34946839
    [Abstract] [Full Text] [Related]

  • 2. Screening for mutations in 17β-hydroxysteroid dehydrogenase and androgen receptor in women presenting with partially virilised 46,XY disorders of sex development.
    Phelan N, Williams EL, Cardamone S, Lee M, Creighton SM, Rumsby G, Conway GS.
    Eur J Endocrinol; 2015 Jun 25; 172(6):745-51. PubMed ID: 25740850
    [Abstract] [Full Text] [Related]

  • 3. Whole exome sequencing and functional characterization increase diagnostic yield in siblings with a 46, XY difference of sexual development (DSD).
    Luna SE, Wegner DJ, Gale S, Yang P, Hollander A, St Dennis-Feezle L, Nabhan ZM, Ory DS, Cole FS, Wambach JA.
    J Steroid Biochem Mol Biol; 2021 Sep 25; 212():105908. PubMed ID: 33984517
    [Abstract] [Full Text] [Related]

  • 4. Novel mutations of HSD17B3 in three Chinese patients with 46,XY Disorders of Sex Development.
    Yu B, Liu Z, Mao J, Wang X, Zheng J, Xiong S, Cui M, Ma W, Huang Q, Xu H, Huang B, Nie M, Wu X.
    Steroids; 2017 Oct 25; 126():1-6. PubMed ID: 28774765
    [Abstract] [Full Text] [Related]

  • 5. A novel missense mutation in HSD17B3 gene in a 46, XY adolescent presenting with primary amenorrhea and virilization at puberty.
    Tuhan HU, Anik A, Catli G, Ceylaner S, Dundar B, Bober E, Abaci A.
    Clin Chim Acta; 2015 Jan 01; 438():154-6. PubMed ID: 25064799
    [Abstract] [Full Text] [Related]

  • 6. 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 31; 29(2):. PubMed ID: 36617173
    [Abstract] [Full Text] [Related]

  • 7. 46,XY disorder of sex development (DSD) due to 17β-hydroxysteroid dehydrogenase type 3 deficiency.
    Mendonca BB, Gomes NL, Costa EM, Inacio M, Martin RM, Nishi MY, Carvalho FM, Tibor FD, Domenice S.
    J Steroid Biochem Mol Biol; 2017 Jan 31; 165(Pt A):79-85. PubMed ID: 27163392
    [Abstract] [Full Text] [Related]

  • 8. Biochemical Analysis of Four Missense Mutations in the HSD17B3 Gene Associated With 46,XY Disorders of Sex Development in Egyptian Patients.
    Engeli RT, Tsachaki M, Hassan HA, Sager CP, Essawi ML, Gad YZ, Kamel AK, Mazen I, Odermatt A.
    J Sex Med; 2017 Sep 31; 14(9):1165-1174. PubMed ID: 28859874
    [Abstract] [Full Text] [Related]

  • 9. Disorder of Sex Development Due to 17-Beta-Hydroxysteroid Dehydrogenase Type 3 Deficiency: A Case Report and Review of 70 Different HSD17B3 Mutations Reported in 239 Patients.
    Gonçalves CI, Carriço J, Bastos M, Lemos MC.
    Int J Mol Sci; 2022 Sep 02; 23(17):. PubMed ID: 36077423
    [Abstract] [Full Text] [Related]

  • 10. 46,XY Sex Development Defect due to a Novel Homozygous (Splice Site) c.673_1G>C Variation in the HSD17B3 Gene: Case Report.
    Çiftci N, Kayaş L, Çamtosun E, Akıncı A.
    J Clin Res Pediatr Endocrinol; 2022 Jun 07; 14(2):233-238. PubMed ID: 33389920
    [Abstract] [Full Text] [Related]

  • 11. A novel nonsense mutation in exon 1 of HSD17B3 gene in an Egyptian 46,XY adult female presenting with primary amenorrhea.
    Hassan HA, Mazen I, Gad YZ, Ali OS, Mekkawy M, Essawi ML.
    Sex Dev; 2013 Jun 07; 7(6):277-81. PubMed ID: 23796702
    [Abstract] [Full Text] [Related]

  • 12. A novel nonsense mutation in HSD17B3 gene in a Tunisian patient with sexual ambiguity.
    Ben Rhouma B, Belguith N, Mnif MF, Kamoun T, Charfi N, Kamoun M, Abdelhedi F, Hachicha M, Kamoun H, Abid M, Fakhfakh F.
    J Sex Med; 2013 Oct 07; 10(10):2586-9. PubMed ID: 22594312
    [Abstract] [Full Text] [Related]

  • 13. The novel founder homozygous V225M mutation in the HSD17B3 gene causes aberrant splicing and XY-DSD.
    Levy-Khademi F, Zeligson S, Lavi E, Klopstock T, Chertin B, Avnon-Ziv C, Abulibdeh A, Renbaum P, Rosen T, Perlberg-Bengio S, Zahdeh F, Behar DM, Levy-Lahad E, Zangen D, Segel R.
    Endocrine; 2020 Sep 07; 69(3):650-654. PubMed ID: 32372306
    [Abstract] [Full Text] [Related]

  • 14. High Molecular Diagnosis Rate in Undermasculinized Males with Differences in Sex Development Using a Stepwise Approach.
    Jacobson JD, Willig LK, Gatti J, Strickland J, Egan A, Saunders C, Farrow E, Heckert LL.
    Endocrinology; 2020 May 01; 161(5):. PubMed ID: 32010941
    [Abstract] [Full Text] [Related]

  • 15. Unraveling a case of 46,XY DSD due to 17ß-Hydroxysteroid Dehydrogenase type 3 mutations at the age of 49.
    Garcia A, Legendre M, Chantot-Bastaraud S, Siffroi JP, Christin-Maitre S.
    Ann Endocrinol (Paris); 2023 Apr 01; 84(2):260-264. PubMed ID: 35065919
    [Abstract] [Full Text] [Related]

  • 16. 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 01; 185(6):1666-1677. PubMed ID: 33742552
    [Abstract] [Full Text] [Related]

  • 17. 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 11; 21(1):2. PubMed ID: 36631813
    [Abstract] [Full Text] [Related]

  • 18. Molecular mechanisms underlying the defects of two novel mutations in the HSD17B3 gene found in the Tunisian population.
    Ben Rhouma B, Kley M, Kallabi F, Kacem FH, Kammoun T, Safi W, Keskes L, Mnif M, Odermatt A, Belguith N.
    J Steroid Biochem Mol Biol; 2023 Mar 11; 227():106235. PubMed ID: 36563763
    [Abstract] [Full Text] [Related]

  • 19. Application and insights of targeted next-generation sequencing in a large cohort of 46,XY disorders of sex development in Chinese.
    Chen H, Chen G, Li F, Huang Y, Zhu L, Zhao Y, Jiang Z, Yan X, Yu L.
    Biol Sex Differ; 2024 Sep 16; 15(1):73. PubMed ID: 39285472
    [Abstract] [Full Text] [Related]

  • 20. A novel HSD17B3 gene mutation in a 46,XY female-phenotype newborn identified by whole-exome sequencing.
    Bertalan R, Admoni O, Bashamboo A, Tenenbaum-Rakover Y, McElreavey K.
    Clin Endocrinol (Oxf); 2017 Oct 16; 87(4):407-408. PubMed ID: 28617986
    [No Abstract] [Full Text] [Related]

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