294 related articles for article (PubMed ID: 22711679)
21. Prenatal Coffin-Siris Syndrome: Expanding the Phenotypic and Genotypic Spectrum of the Disease.
Keskinen S; Paakkola T; Mattila M; Hietala M; Koillinen H; Laine J; Haanpää MK
Pediatr Dev Pathol; 2024; 27(2):181-186. PubMed ID: 37981638
[TBL] [Abstract][Full Text] [Related]
22. De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia.
Huang X; Li H; Yang S; Ma M; Lian Y; Wu X; Qi X; Wang X; Rong W; Sheng X
BMC Med Genomics; 2024 May; 17(1):142. PubMed ID: 38790056
[TBL] [Abstract][Full Text] [Related]
23. Genotype and phenotype in 18 Chinese patients with Coffin-Siris syndrome.
Cheng SSW; Luk HM; Mok MT; Leung SS; Lo IFM
Am J Med Genet A; 2021 Jul; 185(7):2250-2261. PubMed ID: 33768696
[TBL] [Abstract][Full Text] [Related]
24. Identification of de novo mutations for ARID1B haploinsufficiency associated with Coffin-Siris syndrome 1 in three Chinese families via array-CGH and whole exome sequencing.
Lu G; Peng Q; Wu L; Zhang J; Ma L
BMC Med Genomics; 2021 Nov; 14(1):270. PubMed ID: 34775996
[TBL] [Abstract][Full Text] [Related]
25. Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome.
Vasileiou G; Vergarajauregui S; Endele S; Popp B; Büttner C; Ekici AB; Gerard M; Bramswig NC; Albrecht B; Clayton-Smith J; Morton J; Tomkins S; Low K; Weber A; Wenzel M; Altmüller J; Li Y; Wollnik B; Hoganson G; Plona MR; Cho MT; ; Thiel CT; Lüdecke HJ; Strom TM; Calpena E; Wilkie AOM; Wieczorek D; Engel FB; Reis A
Am J Hum Genet; 2018 Mar; 102(3):468-479. PubMed ID: 29429572
[TBL] [Abstract][Full Text] [Related]
26. Numerous BAF complex genes are mutated in Coffin-Siris syndrome.
Miyake N; Tsurusaki Y; Matsumoto N
Am J Med Genet C Semin Med Genet; 2014 Sep; 166C(3):257-61. PubMed ID: 25081545
[TBL] [Abstract][Full Text] [Related]
27. A case of Coffin-Siris syndrome with severe congenital heart disease and a novel
Dsouza NR; Zimmermann MT; Geddes GC
Cold Spring Harb Mol Case Stud; 2019 Jun; 5(3):. PubMed ID: 31160358
[TBL] [Abstract][Full Text] [Related]
28. Prenatal presentation of multiple anomalies associated with haploinsufficiency for ARID1A.
Slavotinek A; Lefebvre M; Brehin AC; Thauvin C; Patrier S; Sparks TN; Norton M; Yu J; Huang E
Eur J Med Genet; 2022 Feb; 65(2):104407. PubMed ID: 34942405
[TBL] [Abstract][Full Text] [Related]
29. Coffin-Siris syndrome in two chinese patients with novel pathogenic variants of ARID1A and SMARCA4.
Liu M; Wan L; Wang C; Yuan H; Peng Y; Wan N; Tang Z; Yuan X; Chen D; Long Z; Shi Y; Qiu R; Tang B; Jiang H; Chen Z
Genes Genomics; 2022 Sep; 44(9):1061-1070. PubMed ID: 35353340
[TBL] [Abstract][Full Text] [Related]
30. First-trimester prenatal diagnosis of Coffin-Siris syndrome-related congenital diaphragmatic hernia: The role of exome sequencing in determining genetic etiology.
Jing XY; Zhen L; Lin XM; Li DZ
Congenit Anom (Kyoto); 2023 Nov; 63(6):211-213. PubMed ID: 37538046
[No Abstract] [Full Text] [Related]
31. First data from a parent-reported registry of 81 individuals with Coffin-Siris syndrome: Natural history and management recommendations.
Mannino EA; Miyawaki H; Santen G; Schrier Vergano SA
Am J Med Genet A; 2018 Nov; 176(11):2250-2258. PubMed ID: 30276971
[TBL] [Abstract][Full Text] [Related]
32. ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome.
Miyatake S; Okamoto N; Stark Z; Nabetani M; Tsurusaki Y; Nakashima M; Miyake N; Mizuguchi T; Ohtake A; Saitsu H; Matsumoto N
J Hum Genet; 2017 Aug; 62(8):741-746. PubMed ID: 28250421
[TBL] [Abstract][Full Text] [Related]
33. Duplication of C7orf58, WNT16 and FAM3C in an obese female with a t(7;22)(q32.1;q11.2) chromosomal translocation and clinical features resembling Coffin-Siris Syndrome.
Zhu J; Qiu J; Magrane G; Abedalthagafi M; Zanko A; Golabi M; Chehab FF
PLoS One; 2012; 7(12):e52353. PubMed ID: 23300646
[TBL] [Abstract][Full Text] [Related]
34. Expanding the phenotypic spectrum associated with DPF2: A new case report.
Knapp KM; Poke G; Jenkins D; Truter W; Bicknell LS
Am J Med Genet A; 2019 Aug; 179(8):1637-1641. PubMed ID: 31207137
[TBL] [Abstract][Full Text] [Related]
35. Observation of Cleft Palate in an Individual with SOX11 Mutation: Indication of a Role for SOX11 in Human Palatogenesis.
Khan U; Study D; Baker E; Clayton-Smith J
Cleft Palate Craniofac J; 2018 Mar; 55(3):456-461. PubMed ID: 29437512
[TBL] [Abstract][Full Text] [Related]
36. Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients.
Gazdagh G; Blyth M; Scurr I; Turnpenny PD; Mehta SG; Armstrong R; McEntagart M; Newbury-Ecob R; Tobias ES; ; Joss S
Eur J Med Genet; 2019 Jan; 62(1):27-34. PubMed ID: 29698805
[TBL] [Abstract][Full Text] [Related]
37. Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.
Sekiguchi F; Tsurusaki Y; Okamoto N; Teik KW; Mizuno S; Suzumura H; Isidor B; Ong WP; Haniffa M; White SM; Matsuo M; Saito K; Phadke S; Kosho T; Yap P; Goyal M; Clarke LA; Sachdev R; McGillivray G; Leventer RJ; Patel C; Yamagata T; Osaka H; Hisaeda Y; Ohashi H; Shimizu K; Nagasaki K; Hamada J; Dateki S; Sato T; Chinen Y; Awaya T; Kato T; Iwanaga K; Kawai M; Matsuoka T; Shimoji Y; Tan TY; Kapoor S; Gregersen N; Rossi M; Marie-Laure M; McGregor L; Oishi K; Mehta L; Gillies G; Lockhart PJ; Pope K; Shukla A; Girisha KM; Abdel-Salam GMH; Mowat D; Coman D; Kim OH; Cordier MP; Gibson K; Milunsky J; Liebelt J; Cox H; El Chehadeh S; Toutain A; Saida K; Aoi H; Minase G; Tsuchida N; Iwama K; Uchiyama Y; Suzuki T; Hamanaka K; Azuma Y; Fujita A; Imagawa E; Koshimizu E; Takata A; Mitsuhashi S; Miyatake S; Mizuguchi T; Miyake N; Matsumoto N
J Hum Genet; 2019 Dec; 64(12):1173-1186. PubMed ID: 31530938
[TBL] [Abstract][Full Text] [Related]
38. Confirmation of an ARID2 defect in SWI/SNF-related intellectual disability.
Van Paemel R; De Bruyne P; van der Straaten S; D'hondt M; Fränkel U; Dheedene A; Menten B; Callewaert B
Am J Med Genet A; 2017 Nov; 173(11):3104-3108. PubMed ID: 28884947
[TBL] [Abstract][Full Text] [Related]
39. Striking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletion.
Pascolini G; Valiante M; Bottillo I; Laino L; Fleischer N; Ferraris A; Grammatico P
Eur J Med Genet; 2020 Mar; 63(3):103739. PubMed ID: 31421289
[TBL] [Abstract][Full Text] [Related]
40. Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4.
Cappuccio G; Brunetti-Pierri R; Torella A; Pinelli M; Castello R; Casari G; Nigro V; Banfi S; Simonelli F; ; Brunetti-Pierri N
Mol Genet Genomic Med; 2019 Jun; 7(6):e682. PubMed ID: 30973214
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]