BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

282 related articles for article (PubMed ID: 32125084)

  • 21. Fortuitous detection of a submicroscopic deletion at 1q25 in a girl with Cornelia-de Lange syndrome carrying t(5;13)(p13.1;q12.1) by array-based comparative genomic hybridization.
    Hayashi S; Ono M; Makita Y; Imoto I; Mizutani S; Inazawa J
    Am J Med Genet A; 2007 Jun; 143A(11):1191-7. PubMed ID: 17497725
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.
    Yuan B; Pehlivan D; Karaca E; Patel N; Charng WL; Gambin T; Gonzaga-Jauregui C; Sutton VR; Yesil G; Bozdogan ST; Tos T; Koparir A; Koparir E; Beck CR; Gu S; Aslan H; Yuregir OO; Al Rubeaan K; Alnaqeb D; Alshammari MJ; Bayram Y; Atik MM; Aydin H; Geckinli BB; Seven M; Ulucan H; Fenercioglu E; Ozen M; Jhangiani S; Muzny DM; Boerwinkle E; Tuysuz B; Alkuraya FS; Gibbs RA; Lupski JR
    J Clin Invest; 2015 Feb; 125(2):636-51. PubMed ID: 25574841
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Hybrid sequencing resolves two germline ultra-complex chromosomal rearrangements consisting of 137 breakpoint junctions in a single carrier.
    Eisfeldt J; Pettersson M; Petri A; Nilsson D; Feuk L; Lindstrand A
    Hum Genet; 2021 May; 140(5):775-790. PubMed ID: 33315133
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Large genomic rearrangements in NIPBL are infrequent in Cornelia de Lange syndrome.
    Bhuiyan ZA; Stewart H; Redeker EJ; Mannens MM; Hennekam RC
    Eur J Hum Genet; 2007 Apr; 15(4):505-8. PubMed ID: 17264868
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Exome sequencing identifies a novel EP300 frame shift mutation in a patient with features that overlap Cornelia de Lange syndrome.
    Woods SA; Robinson HB; Kohler LJ; Agamanolis D; Sterbenz G; Khalifa M
    Am J Med Genet A; 2014 Jan; 164A(1):251-8. PubMed ID: 24352918
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements.
    Eisfeldt J; Pettersson M; Vezzi F; Wincent J; Käller M; Gruselius J; Nilsson D; Syk Lundberg E; Carvalho CMB; Lindstrand A
    PLoS Genet; 2019 Feb; 15(2):e1007858. PubMed ID: 30735495
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Molecular characterization of two novel intronic variants of NIPBL gene detected in unrelated Cornelia de Lange syndrome patients.
    Krawczynska N; Wierzba J; Jasiecki J; Wasag B
    BMC Med Genet; 2019 Jan; 20(1):1. PubMed ID: 30606125
    [TBL] [Abstract][Full Text] [Related]  

  • 28. A de novo translocation t(3;17)(q26.3;q23.1) in a child with Cornelia de Lange syndrome.
    Ireland M; English C; Cross I; Houlsby WT; Burn J
    J Med Genet; 1991 Sep; 28(9):639-40. PubMed ID: 1956066
    [TBL] [Abstract][Full Text] [Related]  

  • 29. [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]  

  • 30. Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation.
    Baquero-Montoya C; Gil-Rodríguez MC; Hernández-Marcos M; Teresa-Rodrigo ME; Vicente-Gabas A; Bernal ML; Casale CH; Bueno-Lozano G; Bueno-Martínez I; Queralt E; Villa O; Hernando-Davalillo C; Armengol L; Gómez-Puertas P; Puisac B; Selicorni A; Ramos FJ; Pié J
    Eur J Med Genet; 2014 Sep; 57(9):503-9. PubMed ID: 24874887
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Generation of corrected hiPSC clones from a Cornelia de Lange Syndrome (CdLS) patient through CRISPR-Cas-based technology.
    Umbach A; Maule G; Kheir E; Cutarelli A; Foglia M; Guarrera L; Fava LL; Conti L; Garattini E; Terao M; Cereseto A
    Stem Cell Res Ther; 2022 Sep; 13(1):440. PubMed ID: 36056433
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.
    Schluth-Bolard C; Diguet F; Chatron N; Rollat-Farnier PA; Bardel C; Afenjar A; Amblard F; Amiel J; Blesson S; Callier P; Capri Y; Collignon P; Cordier MP; Coubes C; Demeer B; Chaussenot A; Demurger F; Devillard F; Doco-Fenzy M; Dupont C; Dupont JM; Dupuis-Girod S; Faivre L; Gilbert-Dussardier B; Guerrot AM; Houlier M; Isidor B; Jaillard S; Joly-Hélas G; Kremer V; Lacombe D; Le Caignec C; Lebbar A; Lebrun M; Lesca G; Lespinasse J; Levy J; Malan V; Mathieu-Dramard M; Masson J; Masurel-Paulet A; Mignot C; Missirian C; Morice-Picard F; Moutton S; Nadeau G; Pebrel-Richard C; Odent S; Paquis-Flucklinger V; Pasquier L; Philip N; Plutino M; Pons L; Portnoï MF; Prieur F; Puechberty J; Putoux A; Rio M; Rooryck-Thambo C; Rossi M; Sarret C; Satre V; Siffroi JP; Till M; Touraine R; Toutain A; Toutain J; Valence S; Verloes A; Whalen S; Edery P; Tabet AC; Sanlaville D
    J Med Genet; 2019 Aug; 56(8):526-535. PubMed ID: 30923172
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Cervical spine malformation in cornelia de lange syndrome: a report of three patients.
    Bettini LR; Locatelli L; Mariani M; Cianci P; Giussani C; Canonico F; Cereda A; Russo S; Gervasini C; Biondi A; Selicorni A
    Am J Med Genet A; 2014 Jun; 164A(6):1520-4. PubMed ID: 24668777
    [TBL] [Abstract][Full Text] [Related]  

  • 34. 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]  

  • 35. 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]  

  • 36. A giant novel gene undergoing extensive alternative splicing is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3.
    Tonkin ET; Smith M; Eichhorn P; Jones S; Imamwerdi B; Lindsay S; Jackson M; Wang TJ; Ireland M; Burn J; Krantz ID; Carr P; Strachan T
    Hum Genet; 2004 Jul; 115(2):139-48. PubMed ID: 15168106
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Phenotypes and genotypes in individuals with SMC1A variants.
    Huisman S; Mulder PA; Redeker E; Bader I; Bisgaard AM; Brooks A; Cereda A; Cinca C; Clark D; Cormier-Daire V; Deardorff MA; Diderich K; Elting M; van Essen A; FitzPatrick D; Gervasini C; Gillessen-Kaesbach G; Girisha KM; Hilhorst-Hofstee Y; Hopman S; Horn D; Isrie M; Jansen S; Jespersgaard C; Kaiser FJ; Kaur M; Kleefstra T; Krantz ID; Lakeman P; Landlust A; Lessel D; Michot C; Moss J; Noon SE; Oliver C; Parenti I; Pie J; Ramos FJ; Rieubland C; Russo S; Selicorni A; Tümer Z; Vorstenbosch R; Wenger TL; van Balkom I; Piening S; Wierzba J; Hennekam RC
    Am J Med Genet A; 2017 Aug; 173(8):2108-2125. PubMed ID: 28548707
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Cornelia de Lange syndrome associated with a de-novo novel NIPBL splice-site mutation and a coincidental inherited translocation t(3;5)(p13;q11).
    Wierzba J; Kuzniacka A; Ratajska M; Lipska BS; Kardas I; Iliszko M; Limon J
    Clin Dysmorphol; 2011 Oct; 20(4):222-224. PubMed ID: 21666440
    [No Abstract]   [Full Text] [Related]  

  • 39. Special cases in Cornelia de Lange syndrome: The Spanish experience.
    Pié J; Puisac B; Hernández-Marcos M; Teresa-Rodrigo ME; Gil-Rodríguez M; Baquero-Montoya C; Ramos-Cáceres M; Bernal M; Ayerza-Casas A; Bueno I; Gómez-Puertas P; Ramos FJ
    Am J Med Genet C Semin Med Genet; 2016 Jun; 172(2):198-205. PubMed ID: 27164022
    [TBL] [Abstract][Full Text] [Related]  

  • 40. A de novo t (X;8)(p11.2;q24.3) demonstrating Cornelia de Lange syndrome phenotype.
    Egemen A; Ulger Z; Ozkinay F; Gulen F; Cogulu O
    Genet Couns; 2005; 16(1):27-30. PubMed ID: 15844775
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 15.