These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

165 related articles for article (PubMed ID: 29261182)

  • 1. Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development.
    Baetens D; Güran T; Mendonca BB; Gomes NL; De Cauwer L; Peelman F; Verdin H; Vuylsteke M; Van der Linden M; ; Atay Z; Bereket A; de Krijger RR; Preter K; Domenice S; Turan S; Stoop H; Looijenga LH; De Bosscher K; Cools M; De Baere E
    Genet Med; 2018 Jul; 20(7):717-727. PubMed ID: 29261182
    [TBL] [Abstract][Full Text] [Related]  

  • 2. MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics consideration.
    Hamanaka K; Takata A; Uchiyama Y; Miyatake S; Miyake N; Mitsuhashi S; Iwama K; Fujita A; Imagawa E; Alkanaq AN; Koshimizu E; Azuma Y; Nakashima M; Mizuguchi T; Saitsu H; Wada Y; Minami S; Katoh-Fukui Y; Masunaga Y; Fukami M; Hasegawa T; Ogata T; Matsumoto N
    Hum Mol Genet; 2019 Jul; 28(14):2319-2329. PubMed ID: 30985895
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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; 15(1):73. PubMed ID: 39285472
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Prevalence of gene mutations in a Chinese 46,XY disorders of sex development cohort detected by targeted next-generation sequencing.
    Yu BQ; Liu ZX; Gao YJ; Wang X; Mao JF; Nie M; Wu XY
    Asian J Androl; 2021; 23(1):69-73. PubMed ID: 32985417
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. 46,XY disorders of sex development: the use of NGS for prevalent variants.
    Xie QG; Luo P; Xia K; Li ZQ; Xu Z; Su C; Deng CH
    Hum Genet; 2022 Dec; 141(12):1863-1873. PubMed ID: 35729303
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. A novel variant of DHH in a familial case of 46,XY disorder of sex development: Insights from molecular dynamics simulations.
    Paris F; Flatters D; Caburet S; Legois B; Servant N; Lefebvre H; Sultan C; Veitia RA
    Clin Endocrinol (Oxf); 2017 Nov; 87(5):539-544. PubMed ID: 28708305
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Identification and functional analysis of fourteen NR5A1 variants in patients with the 46 XY disorders of sex development.
    Na X; Mao Y; Tang Y; Jiang W; Yu J; Cao L; Yang J
    Gene; 2020 Nov; 760():145004. PubMed ID: 32738419
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Novel NR5A1 mutations found in Chinese patients with 46, XY disorders of sex development.
    Yu B; Liu Z; Gao Y; Mao J; Wang X; Hao M; Ma W; Huang Q; Zhang R; Nie M; Wu X
    Clin Endocrinol (Oxf); 2018 Nov; 89(5):613-620. PubMed ID: 30103258
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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; 161(5):. PubMed ID: 32010941
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Genetic Evidence of the Association of DEAH-Box Helicase 37 Defects With 46,XY Gonadal Dysgenesis Spectrum.
    da Silva TE; Gomes NL; Lerário AM; Keegan CE; Nishi MY; Carvalho FM; Vilain E; Barseghyan H; Martinez-Aguayo A; Forclaz MV; Papazian R; Pedroso de Paula LC; Costa EC; Carvalho LR; Jorge AAL; Elias FM; Mitchell R; Costa EMF; Mendonca BB; Domenice S
    J Clin Endocrinol Metab; 2019 Dec; 104(12):5923-5934. PubMed ID: 31287541
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Functional analysis of novel desert hedgehog gene variants improves the clinical interpretation of genomic data and provides a more accurate diagnosis for patients with 46,XY differences of sex development.
    Ayers K; van den Bergen J; Robevska G; Listyasari N; Raza J; Atta I; Riedl S; Rothacker K; Choong C; Faradz SMH; Sinclair A
    J Med Genet; 2019 Jul; 56(7):434-443. PubMed ID: 31018998
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Novel compound heterozygous mutations in the desert hedgehog (DHH) gene in cases of siblings with 46,XY disorders of sexual development.
    Wei J; Wu J; Ru W; Chen G; Gao L; Tang D
    BMC Med Genomics; 2022 Aug; 15(1):178. PubMed ID: 35971145
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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; 212():105908. PubMed ID: 33984517
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.