BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

187 related articles for article (PubMed ID: 33799280)

  • 21. 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]  

  • 22. 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]  

  • 23. SWI/SNF complex in disorder: SWItching from malignancies to intellectual disability.
    Santen GW; Kriek M; van Attikum H
    Epigenetics; 2012 Nov; 7(11):1219-24. PubMed ID: 23010866
    [TBL] [Abstract][Full Text] [Related]  

  • 24. 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]  

  • 25. 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]  

  • 26. 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]  

  • 27. 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]  

  • 28. Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.
    Santen GW; Aten E; Sun Y; Almomani R; Gilissen C; Nielsen M; Kant SG; Snoeck IN; Peeters EA; Hilhorst-Hofstee Y; Wessels MW; den Hollander NS; Ruivenkamp CA; van Ommen GJ; Breuning MH; den Dunnen JT; van Haeringen A; Kriek M
    Nat Genet; 2012 Mar; 44(4):379-80. PubMed ID: 22426309
    [TBL] [Abstract][Full Text] [Related]  

  • 29. BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes.
    Aref-Eshghi E; Bend EG; Hood RL; Schenkel LC; Carere DA; Chakrabarti R; Nagamani SCS; Cheung SW; Campeau PM; Prasad C; Siu VM; Brady L; Tarnopolsky MA; Callen DJ; Innes AM; White SM; Meschino WS; Shuen AY; Paré G; Bulman DE; Ainsworth PJ; Lin H; Rodenhiser DI; Hennekam RC; Boycott KM; Schwartz CE; Sadikovic B
    Nat Commun; 2018 Nov; 9(1):4885. PubMed ID: 30459321
    [TBL] [Abstract][Full Text] [Related]  

  • 30. First Korean Case of Coffin-Siris Syndrome with a Novel Frameshift
    Lee BL; Oh SH; Jun KR; Hur YJ; Lee JE; Keum C; Chung WY
    Ann Clin Lab Sci; 2020 Jan; 50(1):140-145. PubMed ID: 32161024
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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]  

  • 32. Evf2 lncRNA/BRG1/DLX1 interactions reveal RNA-dependent inhibition of chromatin remodeling.
    Cajigas I; Leib DE; Cochrane J; Luo H; Swyter KR; Chen S; Clark BS; Thompson J; Yates JR; Kingston RE; Kohtz JD
    Development; 2015 Aug; 142(15):2641-52. PubMed ID: 26138476
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients.
    Gazdagh G; Blyth M; Scurr I; Turnpenny PD; Mehta SG; Armstrong R; McEntagart M; Newbury-Ecob R; Tobias ES; ; Joss S
    Eur J Med Genet; 2019 Jan; 62(1):27-34. PubMed ID: 29698805
    [TBL] [Abstract][Full Text] [Related]  

  • 34. A Novel
    Lee CG; Ki CS
    Ann Lab Med; 2021 May; 41(3):350-353. PubMed ID: 33303725
    [No Abstract]   [Full Text] [Related]  

  • 35. De Novo SMARCC2 Variant in a Chinese Woman with Coffin-Siris Syndrome 8: a Case Report with Mild Intellectual Disability and Endocrinopathy.
    Yi S; Li M; Yang Q; Qin Z; Yi S; Xu J; Chen J; Wei H; Jiang Y; Wei R; Zhang Q; Yang C; Chen B; Luo J
    J Mol Neurosci; 2022 Jun; 72(6):1293-1299. PubMed ID: 35536477
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Growth charts for individuals with Coffin-Siris syndrome.
    McCague EA; Lamichhane R; Holt N; Schrier Vergano SA
    Am J Med Genet A; 2020 Oct; 182(10):2253-2262. PubMed ID: 32851773
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.
    Machol K; Rousseau J; Ehresmann S; Garcia T; Nguyen TTM; Spillmann RC; Sullivan JA; Shashi V; Jiang YH; Stong N; Fiala E; Willing M; Pfundt R; Kleefstra T; Cho MT; McLaughlin H; Rosello Piera M; Orellana C; Martínez F; Caro-Llopis A; Monfort S; Roscioli T; Nixon CY; Buckley MF; Turner A; Jones WD; van Hasselt PM; Hofstede FC; van Gassen KLI; Brooks AS; van Slegtenhorst MA; Lachlan K; Sebastian J; Madan-Khetarpal S; Sonal D; Sakkubai N; Thevenon J; Faivre L; Maurel A; Petrovski S; Krantz ID; Tarpinian JM; Rosenfeld JA; Lee BH; ; Campeau PM
    Am J Hum Genet; 2019 Jan; 104(1):164-178. PubMed ID: 30580808
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Expanding the phenotypic spectrum associated with DPF2: A new case report.
    Knapp KM; Poke G; Jenkins D; Truter W; Bicknell LS
    Am J Med Genet A; 2019 Aug; 179(8):1637-1641. PubMed ID: 31207137
    [TBL] [Abstract][Full Text] [Related]  

  • 39. De novo SOX11 mutations cause Coffin-Siris syndrome.
    Tsurusaki Y; Koshimizu E; Ohashi H; Phadke S; Kou I; Shiina M; Suzuki T; Okamoto N; Imamura S; Yamashita M; Watanabe S; Yoshiura K; Kodera H; Miyatake S; Nakashima M; Saitsu H; Ogata K; Ikegawa S; Miyake N; Matsumoto N
    Nat Commun; 2014 Jun; 5():4011. PubMed ID: 24886874
    [TBL] [Abstract][Full Text] [Related]  

  • 40. The SWI/SNF BAF-A complex is essential for neural crest development.
    Chandler RL; Magnuson T
    Dev Biol; 2016 Mar; 411(1):15-24. PubMed ID: 26806701
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 10.