BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

322 related articles for article (PubMed ID: 30606125)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. [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]  

  • 5. Functional characterization of NIPBL physiological splice variants and eight splicing mutations in patients with Cornelia de Lange syndrome.
    Teresa-Rodrigo ME; Eckhold J; Puisac B; Dalski A; Gil-Rodríguez MC; Braunholz D; Baquero C; Hernández-Marcos M; de Karam JC; Ciero M; Santos-Simarro F; Lapunzina P; Wierzba J; Casale CH; Ramos FJ; Gillessen-Kaesbach G; Kaiser FJ; Pié J
    Int J Mol Sci; 2014 Jun; 15(6):10350-64. PubMed ID: 24918291
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome.
    Teresa-Rodrigo ME; Eckhold J; Puisac B; Pozojevic J; Parenti I; Baquero-Montoya C; Gil-Rodríguez MC; Braunholz D; Dalski A; Hernández-Marcos M; Ayerza A; Bernal ML; Ramos FJ; Wieczorek D; Gillessen-Kaesbach G; Pié J; Kaiser FJ
    Biomed Res Int; 2016; 2016():8742939. PubMed ID: 26925417
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Analysis of clinical manifestation and genetic mutations in two patients with Cornelia de Lange syndrome].
    Miao Y; Zhu Y; Zhang Q; Guo H; Zhao Y; Cheng L; Han L; Ning Y; Pan Q
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Aug; 35(4):493-497. PubMed ID: 30098241
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Mutation analysis in Chinese patients with Cornelia de Lange syndrome.
    Zhong Q; Liang D; Liu J; Xue J; Wu L
    Genet Test Mol Biomarkers; 2012 Sep; 16(9):1130-4. PubMed ID: 22857006
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Novel mosaic variants in two patients with Cornelia de Lange syndrome.
    Pozojevic J; Parenti I; Graul-Neumann L; Ruiz Gil S; Watrin E; Wendt KS; Werner R; Strom TM; Gillessen-Kaesbach G; Kaiser FJ
    Eur J Med Genet; 2018 Nov; 61(11):680-684. PubMed ID: 29155047
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients.
    Russo S; Masciadri M; Gervasini C; Azzollini J; Cereda A; Zampino G; Haas O; Scarano G; Di Rocco M; Finelli P; Tenconi R; Selicorni A; Larizza L
    Eur J Hum Genet; 2012 Jul; 20(7):734-41. PubMed ID: 22353942
    [TBL] [Abstract][Full Text] [Related]  

  • 13. NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype-phenotype correlation.
    Pehlivan D; Hullings M; Carvalho CM; Gonzaga-Jauregui CG; Loy E; Jackson LG; Krantz ID; Deardorff MA; Lupski JR
    Genet Med; 2012 Mar; 14(3):313-22. PubMed ID: 22241092
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
    Kaur M; Blair J; Devkota B; Fortunato S; Clark D; Lawrence A; Kim J; Do W; Semeo B; Katz O; Mehta D; Yamamoto N; Schindler E; Al Rawi Z; Wallace N; Wilde JJ; McCallum J; Liu J; Xu D; Jackson M; Rentas S; Tayoun AA; Zhe Z; Abdul-Rahman O; Allen B; Angula MA; Anyane-Yeboa K; Argente J; Arn PH; Armstrong L; Basel-Salmon L; Baynam G; Bird LM; Bruegger D; Ch'ng GS; Chitayat D; Clark R; Cox GF; Dave U; DeBaere E; Field M; Graham JM; Gripp KW; Greenstein R; Gupta N; Heidenreich R; Hoffman J; Hopkin RJ; Jones KL; Jones MC; Kariminejad A; Kogan J; Lace B; Leroy J; Lynch SA; McDonald M; Meagher K; Mendelsohn N; Micule I; Moeschler J; Nampoothiri S; Ohashi K; Powell CM; Ramanathan S; Raskin S; Roeder E; Rio M; Rope AF; Sangha K; Scheuerle AE; Schneider A; Shalev S; Siu V; Smith R; Stevens C; Tkemaladze T; Toimie J; Toriello H; Turner A; Wheeler PG; White SM; Young T; Loomes KM; Pipan M; Harrington AT; Zackai E; Rajagopalan R; Conlin L; Deardorff MA; McEldrew D; Pie J; Ramos F; Musio A; Kline AD; Izumi K; Raible SE; Krantz ID
    Am J Med Genet A; 2023 Aug; 191(8):2113-2131. PubMed ID: 37377026
    [TBL] [Abstract][Full Text] [Related]  

  • 15. NIPBL expression levels in CdLS probands as a predictor of mutation type and phenotypic severity.
    Kaur M; Mehta D; Noon SE; Deardorff MA; Zhang Z; Krantz ID
    Am J Med Genet C Semin Med Genet; 2016 Jun; 172(2):163-70. PubMed ID: 27125329
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.
    Ansari M; Poke G; Ferry Q; Williamson K; Aldridge R; Meynert AM; Bengani H; Chan CY; Kayserili H; Avci S; Hennekam RC; Lampe AK; Redeker E; Homfray T; Ross A; Falkenberg Smeland M; Mansour S; Parker MJ; Cook JA; Splitt M; Fisher RB; Fryer A; Magee AC; Wilkie A; Barnicoat A; Brady AF; Cooper NS; Mercer C; Deshpande C; Bennett CP; Pilz DT; Ruddy D; Cilliers D; Johnson DS; Josifova D; Rosser E; Thompson EM; Wakeling E; Kinning E; Stewart F; Flinter F; Girisha KM; Cox H; Firth HV; Kingston H; Wee JS; Hurst JA; Clayton-Smith J; Tolmie J; Vogt J; Tatton-Brown K; Chandler K; Prescott K; Wilson L; Behnam M; McEntagart M; Davidson R; Lynch SA; Sisodiya S; Mehta SG; McKee SA; Mohammed S; Holden S; Park SM; Holder SE; Harrison V; McConnell V; Lam WK; Green AJ; Donnai D; Bitner-Glindzicz M; Donnelly DE; Nellåker C; Taylor MS; FitzPatrick DR
    J Med Genet; 2014 Oct; 51(10):659-68. PubMed ID: 25125236
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome.
    Mannini L; Cucco F; Quarantotti V; Krantz ID; Musio A
    Hum Mutat; 2013 Dec; 34(12):1589-96. PubMed ID: 24038889
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL.
    Ratajska M; Wierzba J; Pehlivan D; Xia Z; Brundage EK; Cheung SW; Stankiewicz P; Lupski JR; Limon J
    Eur J Med Genet; 2010; 53(6):378-82. PubMed ID: 20727427
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [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]  

  • 20. Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome.
    Pié J; Gil-Rodríguez MC; Ciero M; López-Viñas E; Ribate MP; Arnedo M; Deardorff MA; Puisac B; Legarreta J; de Karam JC; Rubio E; Bueno I; Baldellou A; Calvo MT; Casals N; Olivares JL; Losada A; Hegardt FG; Krantz ID; Gómez-Puertas P; Ramos FJ
    Am J Med Genet A; 2010 Apr; 152A(4):924-9. PubMed ID: 20358602
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 17.