570 related articles for article (PubMed ID: 25209348)
1. Cornelia de Lange syndrome.
Boyle MI; Jespersgaard C; Brøndum-Nielsen K; Bisgaard AM; Tümer Z
Clin Genet; 2015 Jul; 88(1):1-12. PubMed ID: 25209348
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach.
Sarogni P; Pallotta MM; Musio A
J Med Genet; 2020 May; 57(5):289-295. PubMed ID: 31704779
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle.
Deardorff MA; Bando M; Nakato R; Watrin E; Itoh T; Minamino M; Saitoh K; Komata M; Katou Y; Clark D; Cole KE; De Baere E; Decroos C; Di Donato N; Ernst S; Francey LJ; Gyftodimou Y; Hirashima K; Hullings M; Ishikawa Y; Jaulin C; Kaur M; Kiyono T; Lombardi PM; Magnaghi-Jaulin L; Mortier GR; Nozaki N; Petersen MB; Seimiya H; Siu VM; Suzuki Y; Takagaki K; Wilde JJ; Willems PJ; Prigent C; Gillessen-Kaesbach G; Christianson DW; Kaiser FJ; Jackson LG; Hirota T; Krantz ID; Shirahige K
Nature; 2012 Sep; 489(7415):313-7. PubMed ID: 22885700
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA.
Revenkova E; Focarelli ML; Susani L; Paulis M; Bassi MT; Mannini L; Frattini A; Delia D; Krantz I; Vezzoni P; Jessberger R; Musio A
Hum Mol Genet; 2009 Feb; 18(3):418-27. PubMed ID: 18996922
[TBL] [Abstract][Full Text] [Related]
11. Cornelia de Lange syndrome in diverse populations.
Dowsett L; Porras AR; Kruszka P; Davis B; Hu T; Honey E; Badoe E; Thong MK; Leon E; Girisha KM; Shukla A; Nayak SS; Shotelersuk V; Megarbane A; Phadke S; Sirisena ND; Dissanayake VHW; Ferreira CR; Kisling MS; Tanpaiboon P; Uwineza A; Mutesa L; Tekendo-Ngongang C; Wonkam A; Fieggen K; Batista LC; Moretti-Ferreira D; Stevenson RE; Prijoles EJ; Everman D; Clarkson K; Worthington J; Kimonis V; Hisama F; Crowe C; Wong P; Johnson K; Clark RD; Bird L; Masser-Frye D; McDonald M; Willems P; Roeder E; Saitta S; Anyane-Yeoba K; Demmer L; Hamajima N; Stark Z; Gillies G; Hudgins L; Dave U; Shalev S; Siu V; Ades A; Dubbs H; Raible S; Kaur M; Salzano E; Jackson L; Deardorff M; Kline A; Summar M; Muenke M; Linguraru MG; Krantz ID
Am J Med Genet A; 2019 Feb; 179(2):150-158. PubMed ID: 30614194
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. Cornelia De Lange Syndrome In A 4-Year-Old Child From India: Phenotype Description And Role Of Genetic Counseling.
Meshram GG; Kaur N; Hura KS
Med Arch; 2018 Oct; 72(4):297-299. PubMed ID: 30515000
[TBL] [Abstract][Full Text] [Related]
15. Analysis of clinical and genetic characteristics in 10 Chinese individuals with Cornelia de Lange syndrome and literature review.
Liu C; Li X; Cui J; Dong R; Lv Y; Wang D; Zhang H; Li X; Li Z; Ma J; Liu Y; Gai Z
Mol Genet Genomic Med; 2020 Oct; 8(10):e1471. PubMed ID: 32856424
[TBL] [Abstract][Full Text] [Related]
16. Clinical and genetic study of 20 patients from China with Cornelia de Lange syndrome.
Hei M; Gao X; Wu L
BMC Pediatr; 2018 Feb; 18(1):64. PubMed ID: 29452578
[TBL] [Abstract][Full Text] [Related]
17. Could a patient with SMC1A duplication be classified as a human cohesinopathy?
Baquero-Montoya C; Gil-Rodríguez MC; Teresa-Rodrigo ME; Hernández-Marcos M; Bueno-Lozano G; Bueno-Martínez I; Remeseiro S; Fernández-Hernández R; Bassecourt-Serra M; Rodríguez de Alba M; Queralt E; Losada A; Puisac B; Ramos FJ; Pié J
Clin Genet; 2014 May; 85(5):446-51. PubMed ID: 23683030
[TBL] [Abstract][Full Text] [Related]
18. Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.
Deardorff MA; Kaur M; Yaeger D; Rampuria A; Korolev S; Pie J; Gil-Rodríguez C; Arnedo M; Loeys B; Kline AD; Wilson M; Lillquist K; Siu V; Ramos FJ; Musio A; Jackson LS; Dorsett D; Krantz ID
Am J Hum Genet; 2007 Mar; 80(3):485-94. PubMed ID: 17273969
[TBL] [Abstract][Full Text] [Related]
19. 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]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
