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Journal Abstract Search

933 related items for PubMed ID: 28608987

  • 1. 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
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  • 8. Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A.
    Kosho T, Okamoto N, Coffin-Siris Syndrome International Collaborators.
    Am J Med Genet C Semin Med Genet; 2014 Sep; 166C(3):262-75. PubMed ID: 25168959
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  • 10. 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
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  • 11. A case of Coffin-Siris syndrome with severe congenital heart disease and a novel SMARCA4 variant.
    Dsouza NR, Zimmermann MT, Geddes GC.
    Cold Spring Harb Mol Case Stud; 2019 Jun; 5(3):. PubMed ID: 31160358
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  • 12. No small surprise - small cell carcinoma of the ovary, hypercalcaemic type, is a malignant rhabdoid tumour.
    Foulkes WD, Clarke BA, Hasselblatt M, Majewski J, Albrecht S, McCluggage WG.
    J Pathol; 2014 Jul; 233(3):209-14. PubMed ID: 24752781
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  • 14. 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, TUDP, Brunetti-Pierri N.
    Mol Genet Genomic Med; 2019 Jun; 7(6):e682. PubMed ID: 30973214
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  • 15. 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
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  • 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 18; 44(4):376-8. PubMed ID: 22426308
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  • 17. 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 18; 166C(3):241-51. PubMed ID: 25169878
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  • 18. 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 18; 170(8):1967-73. PubMed ID: 27264197
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  • 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 18; 191(2):605-611. PubMed ID: 36416235
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  • 20. 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 18; 167A(12):3186-91. PubMed ID: 26364901
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