These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
263 related articles for article (PubMed ID: 31160358)
1. 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]
3. 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]
4. The variability of SMARCA4-related Coffin-Siris syndrome: Do nonsense candidate variants add to milder phenotypes? Li D; Ahrens-Nicklas RC; Baker J; Bhambhani V; Calhoun A; Cohen JS; Deardorff MA; Fernández-Jaén A; Kamien B; Jain M; Mckenzie F; Mintz M; Motter C; Niles K; Ritter A; Rogers C; Roifman M; Townshend S; Ward-Melver C; Schrier Vergano SA Am J Med Genet A; 2020 Sep; 182(9):2058-2067. PubMed ID: 32686290 [TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. 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]
8. 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]
9. 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]
10. Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A. Kosho T; Okamoto N; Am J Med Genet C Semin Med Genet; 2014 Sep; 166C(3):262-75. PubMed ID: 25168959 [TBL] [Abstract][Full Text] [Related]
11. 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]
12. Expanding the clinical spectrum of Coffin-Siris syndrome with anorectal malformations: Case report and review of the literature. Alharbi R; Suchet-Dechaud A; Harzallah I; Touraine R; Ramond F Eur J Med Genet; 2024 Jun; 69():104948. PubMed ID: 38735569 [TBL] [Abstract][Full Text] [Related]
13. 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]
14. Severe coarctation of the aorta, developmental delay, and multiple dysmorphic features in a child with SMAD6 and SMARCA4 variants. Caengprasath N; Buasong A; Ittiwut C; Khongphatthanayothin A; Porntaveetus T; Shotelersuk V Eur J Med Genet; 2022 Nov; 65(11):104601. PubMed ID: 36049609 [TBL] [Abstract][Full Text] [Related]
15. Report of a patient with a constitutional missense mutation in SMARCB1, Coffin-Siris phenotype, and schwannomatosis. Gossai N; Biegel JA; Messiaen L; Berry SA; Moertel CL Am J Med Genet A; 2015 Dec; 167A(12):3186-91. PubMed ID: 26364901 [TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. Genotype-Phenotype Correlations in 208 Individuals with Coffin-Siris Syndrome. Vasko A; Drivas TG; Schrier Vergano SA Genes (Basel); 2021 Jun; 12(6):. PubMed ID: 34205270 [TBL] [Abstract][Full Text] [Related]
19. Coffin-Siris syndrome and cardiac anomaly with a novel SOX11 mutation. Okamoto N; Ehara E; Tsurusaki Y; Miyake N; Matsumoto N Congenit Anom (Kyoto); 2018 May; 58(3):105-107. PubMed ID: 28787104 [TBL] [Abstract][Full Text] [Related]
20. Evidence for an association between Coffin-Siris syndrome and congenital diaphragmatic hernia. Gofin Y; Zhao X; Gerard A; Scaglia F; Wangler MF; Schrier Vergano SA; Scott DA Am J Med Genet A; 2022 Sep; 188(9):2718-2723. PubMed ID: 35796094 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]