BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

457 related articles for article (PubMed ID: 24352918)

  • 1. 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]  

  • 2. Pathogenic variants in EP300 and ANKRD11 in patients with phenotypes overlapping Cornelia de Lange syndrome.
    Cucco F; Sarogni P; Rossato S; Alpa M; Patimo A; Latorre A; Magnani C; Puisac B; Ramos FJ; Pié J; Musio A
    Am J Med Genet A; 2020 Jul; 182(7):1690-1696. PubMed ID: 32476269
    [TBL] [Abstract][Full Text] [Related]  

  • 3. De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.
    Gil-Rodríguez MC; Deardorff MA; Ansari M; Tan CA; Parenti I; Baquero-Montoya C; Ousager LB; Puisac B; Hernández-Marcos M; Teresa-Rodrigo ME; Marcos-Alcalde I; Wesselink JJ; Lusa-Bernal S; Bijlsma EK; Braunholz D; Bueno-Martinez I; Clark D; Cooper NS; Curry CJ; Fisher R; Fryer A; Ganesh J; Gervasini C; Gillessen-Kaesbach G; Guo Y; Hakonarson H; Hopkin RJ; Kaur M; Keating BJ; Kibaek M; Kinning E; Kleefstra T; Kline AD; Kuchinskaya E; Larizza L; Li YR; Liu X; Mariani M; Picker JD; Pié Á; Pozojevic J; Queralt E; Richer J; Roeder E; Sinha A; Scott RH; So J; Wusik KA; Wilson L; Zhang J; Gómez-Puertas P; Casale CH; Ström L; Selicorni A; Ramos FJ; Jackson LG; Krantz ID; Das S; Hennekam RC; Kaiser FJ; FitzPatrick DR; Pié J
    Hum Mutat; 2015 Apr; 36(4):454-62. PubMed ID: 25655089
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype.
    Parenti I; Gervasini C; Pozojevic J; Graul-Neumann L; Azzollini J; Braunholz D; Watrin E; Wendt KS; Cereda A; Cittaro D; Gillessen-Kaesbach G; Lazarevic D; Mariani M; Russo S; Werner R; Krawitz P; Larizza L; Selicorni A; Kaiser FJ
    Clin Genet; 2016 Jan; 89(1):74-81. PubMed ID: 25652421
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum.
    Hamilton MJ; Newbury-Ecob R; Holder-Espinasse M; Yau S; Lillis S; Hurst JA; Clement E; Reardon W; Joss S; Hobson E; Blyth M; Al-Shehhi M; Lynch SA; Suri M;
    Clin Dysmorphol; 2016 Oct; 25(4):135-45. PubMed ID: 27465822
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. A De novo HDAC2 variant in a patient with features consistent with Cornelia de Lange syndrome phenotype.
    Wagner VF; Hillman PR; Britt AD; Ray JW; Farach LS
    Am J Med Genet A; 2019 May; 179(5):852-856. PubMed ID: 30806031
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Next generation sequencing identified two novel mutations in NIPBL and a frame shift mutation in CREBBP in three Chinese children.
    Tang H; Guo J; Linpeng S; Wu L
    Orphanet J Rare Dis; 2019 Feb; 14(1):45. PubMed ID: 30770747
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum.
    López M; García-Oguiza A; Armstrong J; García-Cobaleda I; García-Miñaur S; Santos-Simarro F; Seidel V; Domínguez-Garrido E
    BMC Med Genet; 2018 Mar; 19(1):36. PubMed ID: 29506490
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders.
    Negri G; Magini P; Milani D; Crippa M; Biamino E; Piccione M; Sotgiu S; Perrìa C; Vitiello G; Frontali M; Boni A; Di Fede E; Gandini MC; Colombo EA; Bamshad MJ; Nickerson DA; Smith JD; Loddo I; Finelli P; Seri M; Pippucci T; Larizza L; Gervasini C
    Hum Genet; 2019 Mar; 138(3):257-269. PubMed ID: 30806792
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Genetic and clinical heterogeneity in Korean patients with Rubinstein-Taybi syndrome.
    Choi N; Kim HY; Lim BC; Chae JH; Kim SY; Ko JM
    Mol Genet Genomic Med; 2021 Oct; 9(10):e1791. PubMed ID: 34427995
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome.
    Menke LA; ; Gardeitchik T; Hammond P; Heimdal KR; Houge G; Hufnagel SB; Ji J; Johansson S; Kant SG; Kinning E; Leon EL; Newbury-Ecob R; Paolacci S; Pfundt R; Ragge NK; Rinne T; Ruivenkamp C; Saitta SC; Sun Y; Tartaglia M; Terhal PA; van Essen AJ; Vigeland MD; Xiao B; Hennekam RC
    Am J Med Genet A; 2018 Apr; 176(4):862-876. PubMed ID: 29460469
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 23.