BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

154 related articles for article (PubMed ID: 35233738)

  • 1. Identification of Pathogenic Variants in RPGRIP1L with Meckel Syndrome and Preimplantation Genetic Testing in a Chinese Family.
    Zhang P; Wu B; Wang Y; Ren Y; Li G; Qan Y; Lei C; Wang H
    Reprod Sci; 2022 Aug; 29(8):2200-2207. PubMed ID: 35233738
    [TBL] [Abstract][Full Text] [Related]  

  • 2. First preimplantation genetic testing case of Meckel syndrome with a novel homozygous TXNDC15 variant in a non-consanguineous Chinese family.
    Xu H; Pu J; Yang N; Wu Z; Han C; Yao J; Li X
    Mol Genet Genomic Med; 2024 Jan; 12(1):e2340. PubMed ID: 38073519
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A prenatally diagnosed case of Meckel-Gruber syndrome with novel compound heterozygous pathogenic variants in the TXNDC15 gene.
    Ridnõi K; Šois M; Vaidla E; Pajusalu S; Kelder L; Reimand T; Õunap K
    Mol Genet Genomic Med; 2019 May; 7(5):e614. PubMed ID: 30851085
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Meckel-Gruber Syndrome: Clinical and Molecular Genetic Profiles in Two Fetuses and Review of the Current Literature.
    Turkyilmaz A; Geckinli BB; Alavanda C; Arslan Ates E; Buyukbayrak EE; Eren SF; Arman A
    Genet Test Mol Biomarkers; 2021 Jun; 25(6):445-451. PubMed ID: 34096792
    [No Abstract]   [Full Text] [Related]  

  • 5. Novel homozygous mutations in TXNDC15 causing Meckel syndrome.
    Deng T; Xie Y
    Mol Genet Genomic Med; 2024 Mar; 12(3):e2343. PubMed ID: 38156946
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [Genetic testing and prenatal diagnosis for a Chinese pedigree affected with Meckel-Gruber syndrome].
    Jiao Z; Zhao G; Liu L; Guo Y; Kong X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Dec; 38(12):1204-1207. PubMed ID: 34839507
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Whole exome sequencing identified a homozygous novel variant in CEP290 gene causes Meckel syndrome.
    Zhang R; Chen S; Han P; Chen F; Kuang S; Meng Z; Liu J; Sun R; Wang Z; He X; Li Y; Guan Y; Yue Z; Li C; Kumar Dey S; Zhu Y; Banerjee S
    J Cell Mol Med; 2020 Jan; 24(2):1906-1916. PubMed ID: 31840411
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Two novel TCTN2 mutations cause Meckel-Gruber syndrome.
    Zhang M; Chang Z; Tian Y; Wang L; Lu Y
    J Hum Genet; 2020 Nov; 65(11):1039-1043. PubMed ID: 32655147
    [TBL] [Abstract][Full Text] [Related]  

  • 9. B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis.
    Hopp K; Heyer CM; Hommerding CJ; Henke SA; Sundsbak JL; Patel S; Patel P; Consugar MB; Czarnecki PG; Gliem TJ; Torres VE; Rossetti S; Harris PC
    Hum Mol Genet; 2011 Jul; 20(13):2524-34. PubMed ID: 21493627
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Uniparental disomy as an unexpected cause of Meckel-Gruber syndrome: report of a case.
    Bruechle NO; Steuernagel P; Zerres K; Kurth I; Eggermann T; Knopp C
    Pediatr Nephrol; 2017 Oct; 32(10):1989-1992. PubMed ID: 28620746
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Meckel syndrome: Clinical and mutation profile in six fetuses.
    Radhakrishnan P; Nayak SS; Shukla A; Lindstrand A; Girisha KM
    Clin Genet; 2019 Dec; 96(6):560-565. PubMed ID: 31411728
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [Genetic analysis of a fetus with Meckel syndrome due to variants of TMEM67 gene].
    Tang H; Song X; Weng X; Liu M; Zhao N
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Feb; 41(2):221-224. PubMed ID: 38311563
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping.
    Watson CM; Crinnion LA; Berry IR; Harrison SM; Lascelles C; Antanaviciute A; Charlton RS; Dobbie A; Carr IM; Bonthron DT
    BMC Med Genet; 2016 Jan; 17():1. PubMed ID: 26729329
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Clinical utility gene card for: Meckel syndrome.
    Salonen R; Kestilä M; Bergmann C
    Eur J Hum Genet; 2011 Jul; 19(7):. PubMed ID: 21368913
    [No Abstract]   [Full Text] [Related]  

  • 15. A TCTN2 mutation defines a novel Meckel Gruber syndrome locus.
    Shaheen R; Faqeih E; Seidahmed MZ; Sunker A; Alali FE; AlQahtani K; Alkuraya FS
    Hum Mutat; 2011 Jun; 32(6):573-8. PubMed ID: 21462283
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe.
    Barisic I; Boban L; Loane M; Garne E; Wellesley D; Calzolari E; Dolk H; Addor MC; Bergman JE; Braz P; Draper ES; Haeusler M; Khoshnood B; Klungsoyr K; Pierini A; Queisser-Luft A; Rankin J; Rissmann A; Verellen-Dumoulin C
    Eur J Hum Genet; 2015 Jun; 23(6):746-52. PubMed ID: 25182137
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Evaluation of novel compound variants of CEP290 in prenatally suspected case of Meckel syndrome through whole exome sequencing.
    Peng M; Han S; Sun J; He X; Lv Y; Yang L
    Mol Genet Genomic Med; 2022 May; 10(5):e1935. PubMed ID: 35352487
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mutations in TMEM231 cause Meckel-Gruber syndrome.
    Shaheen R; Ansari S; Mardawi EA; Alshammari MJ; Alkuraya FS
    J Med Genet; 2013 Mar; 50(3):160-2. PubMed ID: 23349226
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Identification of novel
    Zhang Q; Yang S; Chen X; Wang H; Li K; Zhang C; Liao S; Qin L; Hou Q
    Front Genet; 2023; 14():1252873. PubMed ID: 37736303
    [No Abstract]   [Full Text] [Related]  

  • 20. A rare case of Meckel-Gruber syndrome.
    Chiriac DV; Hogea LM; Bredicean AC; Rednic R; Nussbaum LA; Hogea GB; Grigoraş ML
    Rom J Morphol Embryol; 2017; 58(3):1023-1027. PubMed ID: 29250684
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.