BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

261 related articles for article (PubMed ID: 17413424)

  • 21. Two novel NIPBL gene mutations in Chinese patients with Cornelia de Lange syndrome.
    Mei L; Liang D; Huang Y; Pan Q; Wu L
    Gene; 2015 Jan; 555(2):476-80. PubMed ID: 25447906
    [TBL] [Abstract][Full Text] [Related]  

  • 22. First evidence of a paediatric patient with Cornelia de Lange syndrome with acute lymphoblastic leukaemia.
    Fazio G; Massa V; Grioni A; Bystry V; Rigamonti S; Saitta C; Galbiati M; Rizzari C; Consarino C; Biondi A; Selicorni A; Cazzaniga G
    J Clin Pathol; 2019 Aug; 72(8):558-561. PubMed ID: 30948435
    [TBL] [Abstract][Full Text] [Related]  

  • 23. 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]  

  • 24. Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case.
    Minor A; Shinawi M; Hogue JS; Vineyard M; Hamlin DR; Tan C; Donato K; Wysinger L; Botes S; Das S; Del Gaudio D
    Gene; 2014 Mar; 537(2):279-84. PubMed ID: 24378232
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome.
    Kuzniacka A; Wierzba J; Ratajska M; Lipska BS; Koczkowska M; Malinowska M; Limon J
    J Appl Genet; 2013 Feb; 54(1):27-33. PubMed ID: 23254390
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Identification of a novel de novo mutation in the NIPBL gene in an Iranian patient with Cornelia de Lange syndrome: A case report.
    Galehdari H; Monajemzadeh R; Nazem H; Mohamadian G; Pedram M
    J Med Case Rep; 2011 Jun; 5():242. PubMed ID: 21707975
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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]  

  • 28. Audiological findings, genotype and clinical severity score in Cornelia de Lange syndrome.
    Marchisio P; Selicorni A; Bianchini S; Milani D; Baggi E; Cerutti M; Larizza L; Principi N; Esposito S
    Int J Pediatr Otorhinolaryngol; 2014 Jul; 78(7):1045-8. PubMed ID: 24774220
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Clinical and genetic analysis of Korean patients with Cornelia de Lange syndrome: two novel NIPBL mutations.
    Park HD; Ki CS; Kim JW; Kim WT; Kim JK
    Ann Clin Lab Sci; 2010; 40(1):20-5. PubMed ID: 20124326
    [TBL] [Abstract][Full Text] [Related]  

  • 30. X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.
    Musio A; Selicorni A; Focarelli ML; Gervasini C; Milani D; Russo S; Vezzoni P; Larizza L
    Nat Genet; 2006 May; 38(5):528-30. PubMed ID: 16604071
    [TBL] [Abstract][Full Text] [Related]  

  • 31. [Identification and prenatal diagnosis of a novel NIPBL mutation underlying Cornelia De Lange syndrome].
    Bai Z; Kong X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Sep; 36(9):910-913. PubMed ID: 31515788
    [TBL] [Abstract][Full Text] [Related]  

  • 32. [Analysis of NIPBL gene mutation in a patient with Cornelia de Lange syndrome].
    Mei J; Wang M; Wang X; Yao J
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Aug; 35(4):557-560. PubMed ID: 30098256
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Cornelia de Lange Syndrome in association with a balanced reciprocal translocation involving chromosomes 3 and 5.
    Price N; Bahra M; Griffin D; Hanna G; Stock A
    Prenat Diagn; 2005 Jul; 25(7):602-3. PubMed ID: 16032773
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Genotype-phenotype correlations in Cornelia de Lange syndrome: Behavioral characteristics and changes with age.
    Moss J; Penhallow J; Ansari M; Barton S; Bourn D; FitzPatrick DR; Goodship J; Hammond P; Roberts C; Welham A; Oliver C
    Am J Med Genet A; 2017 Jun; 173(6):1566-1574. PubMed ID: 28425213
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Cornelia de Lange Spectrum.
    Ascaso Á; Arnedo M; Puisac B; Latorre-Pellicer A; Del Rincón J; Bueno-Lozano G; Pié J; Ramos FJ
    An Pediatr (Engl Ed); 2024 May; 100(5):352-362. PubMed ID: 38735830
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Cornelia de Lange syndrome mutations in NIPBL can impair cohesin-mediated DNA loop extrusion.
    Panarotto M; Davidson IF; Litos G; Schleiffer A; Peters JM
    Proc Natl Acad Sci U S A; 2022 May; 119(18):e2201029119. PubMed ID: 35476527
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients.
    Schoumans J; Wincent J; Barbaro M; Djureinovic T; Maguire P; Forsberg L; Staaf J; Thuresson AC; Borg A; Nordgren A; Malm G; Anderlid BM
    Eur J Hum Genet; 2007 Feb; 15(2):143-9. PubMed ID: 17106445
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Prenatal findings in Brachmann-de Lange syndrome.
    Bruner JP; Hsia YE
    Obstet Gynecol; 1990 Nov; 76(5 Pt 2):966-8. PubMed ID: 1699187
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Molecular characterization of a mosaic NIPBL deletion in a Cornelia de Lange patient with severe phenotype.
    Gervasini C; Parenti I; Picinelli C; Azzollini J; Masciadri M; Cereda A; Selicorni A; Russo S; Finelli P; Larizza L
    Eur J Med Genet; 2013 Mar; 56(3):138-43. PubMed ID: 23313159
    [TBL] [Abstract][Full Text] [Related]  

  • 40. [NIPBL gene mutations in two children with Cornelia de Lange syndrome].
    Zhao YJ; Ma HW
    Zhongguo Dang Dai Er Ke Za Zhi; 2018 May; 20(5):387-391. PubMed ID: 29764576
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 14.