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 *

208 related articles for article (PubMed ID: 37372421)

  • 1. Success and Pitfalls of Genetic Testing in Undiagnosed Diseases: Whole Exome Sequencing and Beyond.
    Barili V; Ambrosini E; Uliana V; Bellini M; Vitetta G; Martorana D; Cannizzaro IR; Taiani A; De Sensi E; Caggiati P; Hilton S; Banka S; Percesepe A
    Genes (Basel); 2023 Jun; 14(6):. PubMed ID: 37372421
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Chromatinopathies: A focus on Cornelia de Lange syndrome.
    Avagliano L; Parenti I; Grazioli P; Di Fede E; Parodi C; Mariani M; Kaiser FJ; Selicorni A; Gervasini C; Massa V
    Clin Genet; 2020 Jan; 97(1):3-11. PubMed ID: 31721174
    [TBL] [Abstract][Full Text] [Related]  

  • 3. De novo
    Thanh DC; Ngoc CTB; Nguyen NL; Vu CD; Tung NV; Nguyen HH
    Medicina (Kaunas); 2020 Feb; 56(2):. PubMed ID: 32074972
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Chung-Jansen syndrome can mimic Cornelia de Lange syndrome: Another player among chromatinopathies?
    Conti B; Rinaldi B; Rimoldi M; Villa R; Iascone M; Gangi S; Porro M; Ajmone PF; Colli AM; Mosca F; Bedeschi MF
    Am J Med Genet A; 2023 Jun; 191(6):1586-1592. PubMed ID: 36843271
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Diagnosing Cornelia de Lange syndrome and related neurodevelopmental disorders using RNA sequencing.
    Rentas S; Rathi KS; Kaur M; Raman P; Krantz ID; Sarmady M; Tayoun AA
    Genet Med; 2020 May; 22(5):927-936. PubMed ID: 31911672
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome.
    Aoi H; Mizuguchi T; Ceroni JR; Kim VEH; Furquim I; Honjo RS; Iwaki T; Suzuki T; Sekiguchi F; Uchiyama Y; Azuma Y; Hamanaka K; Koshimizu E; Miyatake S; Mitsuhashi S; Takata A; Miyake N; Takeda S; Itakura A; Bertola DR; Kim CA; Matsumoto N
    J Hum Genet; 2019 Oct; 64(10):967-978. PubMed ID: 31337854
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [Identification of a novel missense NIPBL variant in a juvenile with severe type of Cornelia de Lange syndrome].
    Tang W; Wu R; Meng Z; Li X; Ouyang N; Liang L
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 May; 37(5):535-538. PubMed ID: 32335880
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Application of exome sequencing to diagnose a novel presentation of the Cornelia de Lange syndrome in an Afro-Caribbean family.
    Thompson W; Carey PZ; Donald T; Nelson B; Bhoj EJ; Li D; Hakonarson H; Ramirez M; Elsea SH; Smith JL; Carey JC; Sobering AK
    Mol Genet Genomic Med; 2020 Aug; 8(8):e1318. PubMed ID: 32511891
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients.
    Coursimault J; Cassinari K; Lecoquierre F; Quenez O; Coutant S; Derambure C; Vezain M; Drouot N; Vera G; Schaefer E; Philippe A; Doray B; Lambert L; Ghoumid J; Smol T; Rama M; Legendre M; Lacombe D; Fergelot P; Olaso R; Boland A; Deleuze JF; Goldenberg A; Saugier-Veber P; Nicolas G
    Hum Mutat; 2022 Dec; 43(12):1882-1897. PubMed ID: 35842780
    [TBL] [Abstract][Full Text] [Related]  

  • 10. uORF-introducing variants in the 5'UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome.
    Coursimault J; Rovelet-Lecrux A; Cassinari K; Brischoux-Boucher E; Saugier-Veber P; Goldenberg A; Lecoquierre F; Drouot N; Richard AC; Vera G; Coutant S; Quenez O; Rolain M; Bonnet C; Bronner M; Lecourtois M; Nicolas G
    Hum Mutat; 2022 Sep; 43(9):1239-1248. PubMed ID: 35446447
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Limitations of exome sequencing in detecting rare and undiagnosed diseases.
    Burdick KJ; Cogan JD; Rives LC; Robertson AK; Koziura ME; Brokamp E; Duncan L; Hannig V; Pfotenhauer J; Vanzo R; Paul MS; Bican A; Morgan T; Duis J; Newman JH; Hamid R; Phillips JA;
    Am J Med Genet A; 2020 Jun; 182(6):1400-1406. PubMed ID: 32190976
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome.
    Plesser Duvdevani M; Pettersson M; Eisfeldt J; Avraham O; Dagan J; Frumkin A; Lupski JR; Lindstrand A; Harel T
    Am J Med Genet A; 2020 May; 182(5):1143-1151. PubMed ID: 32125084
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [Analysis of genotypes and phenotypes of three children with Cornelia de Lange syndrome].
    Zhao L; Zhang Q; Zhou B; Zhang C; Zheng L; Wang Y; Hao S; Hui L
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Jan; 40(1):7-11. PubMed ID: 36584992
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Genome-wide DNA methylation profiling and exome sequencing resolved a long-time misdiagnosed case.
    Paparella A; Squeo GM; Di Venere E; Cardea E; Mazza T; Castellana S; Kerkhof J; McConkey H; Sadikovic B; Sinibaldi L; Digilio MC; Merla G
    J Hum Genet; 2022 Sep; 67(9):547-551. PubMed ID: 35581385
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A novel mosaic variant on
    Gonzalez Garcia A; Malone J; Li H
    Cold Spring Harb Mol Case Stud; 2020 Jun; 6(3):. PubMed ID: 32532882
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases.
    Salfati EL; Spencer EG; Topol SE; Muse ED; Rueda M; Lucas JR; Wagner GN; Campman S; Topol EJ; Torkamani A
    Genome Med; 2019 Dec; 11(1):83. PubMed ID: 31847883
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Genetic variant analysis of a neonate with Cornelia de Lange syndrome].
    Sun Y; Chen C; Di T; Shao H; Zhu R; Zhu Y; Zhou A; Wang Q
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Apr; 37(4):449-451. PubMed ID: 32219834
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndrome.
    Seyama R; Uchiyama Y; Ceroni JRM; Kim VEH; Furquim I; Honjo RS; Castro MAA; Pires LVL; Aoi H; Iwama K; Hamanaka K; Fujita A; Tsuchida N; Koshimizu E; Misawa K; Miyatake S; Mizuguchi T; Makino S; Itakura A; Bertola DR; Kim CA; Matsumoto N
    Genomics; 2022 Sep; 114(5):110468. PubMed ID: 36041635
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Novel pathogenic variant (c.3178G>A) in the SMC1A gene in a family with Cornelia de Lange syndrome identified by exome sequencing.
    Jang MA; Lee CW; Kim JK; Ki CS
    Ann Lab Med; 2015 Nov; 35(6):639-42. PubMed ID: 26354354
    [TBL] [Abstract][Full Text] [Related]  

  • 20. De novo variants in
    Bina R; Matalon D; Fregeau B; Tarsitano JJ; Aukrust I; Houge G; Bend R; Warren H; Stevenson RE; Stuurman KE; Barkovich AJ; Sherr EH
    J Med Genet; 2020 Jul; 57(7):461-465. PubMed ID: 31924697
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.