BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

186 related articles for article (PubMed ID: 36416235)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia.
    Huang X; Li H; Yang S; Ma M; Lian Y; Wu X; Qi X; Wang X; Rong W; Sheng X
    BMC Med Genomics; 2024 May; 17(1):142. PubMed ID: 38790056
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. The case for early use of rapid whole-genome sequencing in management of critically ill infants: late diagnosis of Coffin-Siris syndrome in an infant with left congenital diaphragmatic hernia, congenital heart disease, and recurrent infections.
    Sweeney NM; Nahas SA; Chowdhury S; Campo MD; Jones MC; Dimmock DP; Kingsmore SF;
    Cold Spring Harb Mol Case Stud; 2018 Jun; 4(3):. PubMed ID: 29549119
    [