658 related articles for article (PubMed ID: 25168959)
1. 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]
2. Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: historical review and recent advances using next generation sequencing.
Kosho T; Miyake N; Carey JC
Am J Med Genet C Semin Med Genet; 2014 Sep; 166C(3):241-51. PubMed ID: 25169878
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Clinical correlations of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literature.
Kosho T; Okamoto N; Ohashi H; Tsurusaki Y; Imai Y; Hibi-Ko Y; Kawame H; Homma T; Tanabe S; Kato M; Hiraki Y; Yamagata T; Yano S; Sakazume S; Ishii T; Nagai T; Ohta T; Niikawa N; Mizuno S; Kaname T; Naritomi K; Narumi Y; Wakui K; Fukushima Y; Miyatake S; Mizuguchi T; Saitsu H; Miyake N; Matsumoto N
Am J Med Genet A; 2013 Jun; 161A(6):1221-37. PubMed ID: 23637025
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. 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]
8. Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.
Tsurusaki Y; Okamoto N; Ohashi H; Kosho T; Imai Y; Hibi-Ko Y; Kaname T; Naritomi K; Kawame H; Wakui K; Fukushima Y; Homma T; Kato M; Hiraki Y; Yamagata T; Yano S; Mizuno S; Sakazume S; Ishii T; Nagai T; Shiina M; Ogata K; Ohta T; Niikawa N; Miyatake S; Okada I; Mizuguchi T; Doi H; Saitsu H; Miyake N; Matsumoto N
Nat Genet; 2012 Mar; 44(4):376-8. PubMed ID: 22426308
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.
Campeau PM; Hennekam RC;
Am J Med Genet C Semin Med Genet; 2014 Sep; 166C(3):327-32. PubMed ID: 25169651
[TBL] [Abstract][Full Text] [Related]
11. Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris syndrome-like phenotype.
Bramswig NC; Caluseriu O; Lüdecke HJ; Bolduc FV; Noel NC; Wieland T; Surowy HM; Christen HJ; Engels H; Strom TM; Wieczorek D
Hum Genet; 2017 Mar; 136(3):297-305. PubMed ID: 28124119
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.
Wieczorek D; Bögershausen N; Beleggia F; Steiner-Haldenstätt S; Pohl E; Li Y; Milz E; Martin M; Thiele H; Altmüller J; Alanay Y; Kayserili H; Klein-Hitpass L; Böhringer S; Wollstein A; Albrecht B; Boduroglu K; Caliebe A; Chrzanowska K; Cogulu O; Cristofoli F; Czeschik JC; Devriendt K; Dotti MT; Elcioglu N; Gener B; Goecke TO; Krajewska-Walasek M; Guillén-Navarro E; Hayek J; Houge G; Kilic E; Simsek-Kiper PÖ; López-González V; Kuechler A; Lyonnet S; Mari F; Marozza A; Mathieu Dramard M; Mikat B; Morin G; Morice-Picard F; Ozkinay F; Rauch A; Renieri A; Tinschert S; Utine GE; Vilain C; Vivarelli R; Zweier C; Nürnberg P; Rahmann S; Vermeesch J; Lüdecke HJ; Zeschnigk M; Wollnik B
Hum Mol Genet; 2013 Dec; 22(25):5121-35. PubMed ID: 23906836
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability.
Mari F; Marozza A; Mencarelli MA; Lo Rizzo C; Fallerini C; Dosa L; Di Marco C; Carignani G; Baldassarri M; Cianci P; Vivarelli R; Vascotto M; Grosso S; Rubegni P; Caffarelli C; Pretegiani E; Fimiani M; Garavelli L; Cristofoli F; Vermeesch JR; Nuti R; Dotti MT; Balestri P; Hayek J; Selicorni A; Renieri A
Brain Dev; 2015 May; 37(5):527-36. PubMed ID: 25249037
[TBL] [Abstract][Full Text] [Related]
18. Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.
Schmetz A; Lüdecke HJ; Surowy H; Sivalingam S; Bruel AL; Caumes R; Charles P; Chatron N; Chrzanowska K; Codina-Solà M; Colson C; Cuscó I; Denommé-Pichon AS; Edery P; Faivre L; Green A; Heide S; Hsieh TC; Hustinx A; Kleinendorst L; Knopp C; Kraft F; Krawitz PM; Lasa-Aranzasti A; Lesca G; López-González V; Maraval J; Mignot C; Neuhann T; Netzer C; Oehl-Jaschkowitz B; Petit F; Philippe C; Posmyk R; Putoux A; Reis A; Sánchez-Soler MJ; Suh J; Tkemaladze T; Tran Mau Them F; Travessa A; Trujillano L; Valenzuela I; van Haelst MM; Vasileiou G; Vincent-Delorme C; Walther M; Verde P; Bramswig NC; Wieczorek D
Hum Genet; 2024 Jan; 143(1):71-84. PubMed ID: 38117302
[TBL] [Abstract][Full Text] [Related]
19. 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]
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]
