BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

143 related articles for article (PubMed ID: 36473251)

  • 1. Establishment of an induced pluripotent stem cell (iPSC) line SDQLCHi045-A from peripheral blood mononuclear cells of a patient with Coffin-Siris syndrome 1 carrying a mutation in ARID1B gene.
    Yang X; Liu C; Zhang H; Lv Y; Li Y; Li Z; Liu Y; Gai Z
    Stem Cell Res; 2023 Feb; 66():102982. PubMed ID: 36473251
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Generation of an induced pluripotent stem cell (iPSC) line SDQLCHi056-A from a patient with Nicolaides-Baraitser syndrome carrying a mutation in SMARCA2 gene.
    Yang X; Yu C; Gao M; Liu Y; Liu Y
    Stem Cell Res; 2023 Dec; 73():103244. PubMed ID: 37995436
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A boy with Coffin-Siris syndrome with a novel frameshift mutation in ARID1B.
    Park H; Kim MS; Kim J; Jang JH; Choi JM; Lee SM; Cho SY; Jin DK
    Neuro Endocrinol Lett; 2021 Jan; 41(6):285-289. PubMed ID: 33714239
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Novel ARID1B variant inherited from somatogonadal mosaic mother in siblings with Coffin-Siris syndrome 1.
    Min Z; Qian C; Ying D
    Exp Ther Med; 2021 Jun; 21(6):614. PubMed ID: 33936271
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Three Novel
    Tan Y; Chen J; Li Y; Liu Y; Wang Y; Xia S; Chen L; Wei W; Chen Z
    Neurol India; 2022; 70(5):2174-2179. PubMed ID: 36352633
    [TBL] [Abstract][Full Text] [Related]  

  • 8. The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
    van der Sluijs PJ; Jansen S; Vergano SA; Adachi-Fukuda M; Alanay Y; AlKindy A; Baban A; Bayat A; Beck-Wödl S; Berry K; Bijlsma EK; Bok LA; Brouwer AFJ; van der Burgt I; Campeau PM; Canham N; Chrzanowska K; Chu YWY; Chung BHY; Dahan K; De Rademaeker M; Destree A; Dudding-Byth T; Earl R; Elcioglu N; Elias ER; Fagerberg C; Gardham A; Gener B; Gerkes EH; Grasshoff U; van Haeringen A; Heitink KR; Herkert JC; den Hollander NS; Horn D; Hunt D; Kant SG; Kato M; Kayserili H; Kersseboom R; Kilic E; Krajewska-Walasek M; Lammers K; Laulund LW; Lederer D; Lees M; López-González V; Maas S; Mancini GMS; Marcelis C; Martinez F; Maystadt I; McGuire M; McKee S; Mehta S; Metcalfe K; Milunsky J; Mizuno S; Moeschler JB; Netzer C; Ockeloen CW; Oehl-Jaschkowitz B; Okamoto N; Olminkhof SNM; Orellana C; Pasquier L; Pottinger C; Riehmer V; Robertson SP; Roifman M; Rooryck C; Ropers FG; Rosello M; Ruivenkamp CAL; Sagiroglu MS; Sallevelt SCEH; Sanchis Calvo A; Simsek-Kiper PO; Soares G; Solaeche L; Sonmez FM; Splitt M; Steenbeek D; Stegmann APA; Stumpel CTRM; Tanabe S; Uctepe E; Utine GE; Veenstra-Knol HE; Venkateswaran S; Vilain C; Vincent-Delorme C; Vulto-van Silfhout AT; Wheeler P; Wilson GN; Wilson LC; Wollnik B; Kosho T; Wieczorek D; Eichler E; Pfundt R; de Vries BBA; Clayton-Smith J; Santen GWE
    Genet Med; 2019 Jun; 21(6):1295-1307. PubMed ID: 30349098
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. A 69-year-old woman with Coffin-Siris syndrome.
    Määttänen L; Hietala M; Ignatius J; Arvio M
    Am J Med Genet A; 2018 Aug; 176(8):1764-1767. PubMed ID: 30055038
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 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. Generation of an induced pluripotent stem cell line (SDQLCHi044-A) from a patient with autosomal dominant mental retardation type 5 harboring heterozygous mutation in SYNGAP1 gene.
    Wang Y; Lv Y; Yang X; Li Y; Li Z; Gao Z; Gai Z; Liu Y
    Stem Cell Res; 2022 Oct; 64():102922. PubMed ID: 36183676
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Genotype and phenotype in 18 Chinese patients with Coffin-Siris syndrome.
    Cheng SSW; Luk HM; Mok MT; Leung SS; Lo IFM
    Am J Med Genet A; 2021 Jul; 185(7):2250-2261. PubMed ID: 33768696
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Establishment of human induced pluripotent stem cell line (SDQLCHi060-A) from a patient with AUTS2 syndrome carrying a heterozygous mutation in AUTS2 gene.
    Gao C; Liu Y; Liu N; Li Z; Yang X; Yang Y; Xi Y; Tian J; Gai Z
    Stem Cell Res; 2023 Dec; 73():103242. PubMed ID: 37948839
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency.
    Sim JC; White SM; Fitzpatrick E; Wilson GR; Gillies G; Pope K; Mountford HS; Torring PM; McKee S; Vulto-van Silfhout AT; Jhangiani SN; Muzny DM; Leventer RJ; Delatycki MB; Amor DJ; Lockhart PJ
    Orphanet J Rare Dis; 2014 Mar; 9():43. PubMed ID: 24674232
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Apparently balanced t(1;7)(q21.3;q34) in an infant with Coffin-Siris syndrome.
    McPherson EW; Laneri G; Clemens MM; Kochmar SJ; Surti U
    Am J Med Genet; 1997 Sep; 71(4):430-3. PubMed ID: 9286450
    [TBL] [Abstract][Full Text] [Related]  

  • 20. The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B.
    Zweier M; Peippo MM; Pöyhönen M; Kääriäinen H; Begemann A; Joset P; Oneda B; Rauch A
    Am J Med Genet A; 2017 May; 173(5):1440-1443. PubMed ID: 28323383
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 8.