BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

605 related articles for article (PubMed ID: 23815551)

  • 1. 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]  

  • 2. 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]  

  • 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. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 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. De novo splice site variant of ARID1B associated with pathogenesis of Coffin-Siris syndrome.
    Pranckėnienė L; Siavrienė E; Gueneau L; Preikšaitienė E; Mikštienė V; Reymond A; Kučinskas V
    Mol Genet Genomic Med; 2019 Dec; 7(12):e1006. PubMed ID: 31628733
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Genome-Wide Analysis of the Nucleosome Landscape in Individuals with Coffin-Siris Syndrome.
    Kalmbach A; Schröder C; Klein-Hitpass L; Nordström K; Ulz P; Heitzer E; Speicher MR; Rahmann S; Wieczorek D; Horsthemke B; Bramswig NC
    Cytogenet Genome Res; 2019; 159(1):1-11. PubMed ID: 31658463
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. 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]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 31.