BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

182 related articles for article (PubMed ID: 34813034)

  • 1. Novel Variants of the SMARCA4 Gene Associated with Autistic Features Rather Than Typical Coffin-Siris Syndrome in Eight Chinese Pediatric Patients.
    Qian Y; Zhou Y; Wu B; Chen H; Xu S; Wang Y; Zhang P; Li G; Xu Q; Zhou W; Xu X; Wang H
    J Autism Dev Disord; 2022 Nov; 52(11):5033-5041. PubMed ID: 34813034
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. Generation of an iPSC line (CRICKi001-A) from an individual with a germline SMARCA4 missense mutation and autism spectrum disorder.
    Devito LG; Healy L; Mohammed S; Guillemot F; Dias C
    Stem Cell Res; 2021 May; 53():102304. PubMed ID: 33799280
    [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. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms.
    Weiss K; Terhal PA; Cohen L; Bruccoleri M; Irving M; Martinez AF; Rosenfeld JA; Machol K; Yang Y; Liu P; Walkiewicz M; Beuten J; Gomez-Ospina N; Haude K; Fong CT; Enns GM; Bernstein JA; Fan J; Gotway G; Ghorbani M; ; van Gassen K; Monroe GR; van Haaften G; Basel-Vanagaite L; Yang XJ; Campeau PM; Muenke M
    Am J Hum Genet; 2016 Oct; 99(4):934-941. PubMed ID: 27616479
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in Korea.
    Lee Y; Choi Y; Seo GH; Kim GH; Keum C; Kim YM; Do HS; Choi J; Choi IH; Yoo HW; Lee BH
    BMC Med Genomics; 2021 Oct; 14(1):254. PubMed ID: 34706719
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 10.