294 related articles for article (PubMed ID: 22711679)
1. The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases.
Schrier SA; Bodurtha JN; Burton B; Chudley AE; Chiong MA; D'avanzo MG; Lynch SA; Musio A; Nyazov DM; Sanchez-Lara PA; Shalev SA; Deardorff MA
Am J Med Genet A; 2012 Aug; 158A(8):1865-76. PubMed ID: 22711679
[TBL] [Abstract][Full Text] [Related]
2. SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases.
Zarate YA; Bhoj E; Kaylor J; Li D; Tsurusaki Y; Miyake N; Matsumoto N; Phadke S; Escobar L; Irani A; Hakonarson H; Schrier Vergano SA
Am J Med Genet A; 2016 Aug; 170(8):1967-73. PubMed ID: 27264197
[TBL] [Abstract][Full Text] [Related]
3. A 69-year-old woman with Coffin-Siris syndrome.
Määttänen L; Hietala M; Ignatius J; Arvio M
Am J Med Genet A; 2018 Aug; 176(8):1764-1767. PubMed ID: 30055038
[TBL] [Abstract][Full Text] [Related]
4. Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.
Bramswig NC; Lüdecke HJ; Alanay Y; Albrecht B; Barthelmie A; Boduroglu K; Braunholz D; Caliebe A; Chrzanowska KH; Czeschik JC; Endele S; Graf E; Guillén-Navarro E; Kiper PÖ; López-González V; Parenti I; Pozojevic J; Utine GE; Wieland T; Kaiser FJ; Wollnik B; Strom TM; Wieczorek D
Hum Genet; 2015 Jun; 134(6):553-68. PubMed ID: 25724810
[TBL] [Abstract][Full Text] [Related]
5. Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome.
Miyake N; Abdel-Salam G; Yamagata T; Eid MM; Osaka H; Okamoto N; Mohamed AM; Ikeda T; Afifi HH; Piard J; van Maldergem L; Mizuguchi T; Miyatake S; Tsurusaki Y; Matsumoto N
Am J Med Genet A; 2016 Oct; 170(10):2662-70. PubMed ID: 27264538
[TBL] [Abstract][Full Text] [Related]
6. Hepatomegaly in a boy with ARID1B-related Coffin-Siris syndrome.
Natsume T; Takano K; Motobayashi M; Kosho T
Pediatr Int; 2018 Apr; 60(4):378-380. PubMed ID: 29504208
[No Abstract] [Full Text] [Related]
7. Coffin-Siris syndrome with bilateral macular dysplasia caused by a novel exonic deletion in ARID1B.
Fujita T; Ihara Y; Hayashi H; Ishii A; Ideguchi H; Inoue T; Imaizumi T; Yamamoto T; Hirose S
Congenit Anom (Kyoto); 2020 Nov; 60(6):189-193. PubMed ID: 32618029
[TBL] [Abstract][Full Text] [Related]
8. Koebner phenomenon of vitiligo associated with Coffin-Siris syndrome.
Hida T; Ishikawa A; Mizukami M; Uhara H
Eur J Dermatol; 2020 Jun; 30(3):310-311. PubMed ID: 32666931
[No Abstract] [Full Text] [Related]
9. A newborn with coffin-siris syndrome.
Cui L; Jin X
J Pak Med Assoc; 2023 Apr; 73(4):896-900. PubMed ID: 37052010
[TBL] [Abstract][Full Text] [Related]
10. Coffin-Siris syndrome is a SWI/SNF complex disorder.
Tsurusaki Y; Okamoto N; Ohashi H; Mizuno S; Matsumoto N; Makita Y; Fukuda M; Isidor B; Perrier J; Aggarwal S; Dalal AB; Al-Kindy A; Liebelt J; Mowat D; Nakashima M; Saitsu H; Miyake N; Matsumoto N
Clin Genet; 2014 Jun; 85(6):548-54. PubMed ID: 23815551
[TBL] [Abstract][Full Text] [Related]
11. Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.
Santen GW; Aten E; Vulto-van Silfhout AT; Pottinger C; van Bon BW; van Minderhout IJ; Snowdowne R; van der Lans CA; Boogaard M; Linssen MM; Vijfhuizen L; van der Wielen MJ; Vollebregt MJ; ; Breuning MH; Kriek M; van Haeringen A; den Dunnen JT; Hoischen A; Clayton-Smith J; de Vries BB; Hennekam RC; van Belzen MJ
Hum Mutat; 2013 Nov; 34(11):1519-28. PubMed ID: 23929686
[TBL] [Abstract][Full Text] [Related]
12. A novel intragenic DPF2 deletion identified by genome sequencing in an adult with clinical features of Coffin-Siris syndrome.
MacDonald SK; Marshall AE; Lemire G; Hartley T; ; Kernohan KD; Boycott KM
Am J Med Genet A; 2022 Aug; 188(8):2493-2496. PubMed ID: 35607970
[No Abstract] [Full Text] [Related]
13. Inflammatory Arthritis as a Possible Feature of Coffin-Siris Syndrome.
Melo Gomes S; Dias C; Omoyinmi E; Compeyrot-Lacassagne S; Klein N; Sebire NJ; Brogan P
Pediatrics; 2019 Jul; 144(1):. PubMed ID: 31243159
[TBL] [Abstract][Full Text] [Related]
14. ARID2, a milder cause of Coffin-Siris Syndrome? Broadening the phenotype with 17 additional individuals.
Schrier Vergano SA
Am J Med Genet A; 2024 Jun; 194(6):e63540. PubMed ID: 38243407
[TBL] [Abstract][Full Text] [Related]
15. SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type.
Errichiello E; Mustafa N; Vetro A; Notarangelo LD; de Jonge H; Rinaldi B; Vergani D; Giglio SR; Morbini P; Zuffardi O
J Pathol; 2017 Sep; 243(1):9-15. PubMed ID: 28608987
[TBL] [Abstract][Full Text] [Related]
16. The role of objective facial analysis using FDNA in making diagnoses following whole exome analysis. Report of two patients with mutations in the BAF complex genes.
Gripp KW; Baker L; Telegrafi A; Monaghan KG
Am J Med Genet A; 2016 Jul; 170(7):1754-62. PubMed ID: 27112773
[TBL] [Abstract][Full Text] [Related]
17. Clinical features, diagnostic criteria, and management of Coffin-Siris syndrome.
Vergano SS; Deardorff MA
Am J Med Genet C Semin Med Genet; 2014 Sep; 166C(3):252-6. PubMed ID: 25169447
[TBL] [Abstract][Full Text] [Related]
18. Congenital diaphragmatic hernia in Coffin Siris syndrome: Further evidence from two cases.
Rimoldi M; Rinaldi B; Villa R; Cerasani J; Beltrami B; Iascone M; Silipigni R; Boito S; Gangi S; Colombo L; Porro M; Cesaretti C; Bedeschi MF
Am J Med Genet A; 2023 Feb; 191(2):605-611. PubMed ID: 36416235
[TBL] [Abstract][Full Text] [Related]
19. Coffin-Siris syndrome: phenotypic evolution of a novel SMARCA4 mutation.
Tzeng M; du Souich C; Cheung HW; Boerkoel CF
Am J Med Genet A; 2014 Jul; 164A(7):1808-14. PubMed ID: 24700502
[TBL] [Abstract][Full Text] [Related]
20. The case for early use of rapid whole-genome sequencing in management of critically ill infants: late diagnosis of Coffin-Siris syndrome in an infant with left congenital diaphragmatic hernia, congenital heart disease, and recurrent infections.
Sweeney NM; Nahas SA; Chowdhury S; Campo MD; Jones MC; Dimmock DP; Kingsmore SF;
Cold Spring Harb Mol Case Stud; 2018 Jun; 4(3):. PubMed ID: 29549119
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]