159 related articles for article (PubMed ID: 25250687)
1. Disruption of the ARID1B and ADAMTS6 loci due to a t(5;6)(q12.3;q25.3) in a patient with developmental delay.
Malli T; Duba HC; Erdel M; Marschon R; Kranewitter W; Deutschbauer S; Kralik J; Diel E; Güenther B; Mueller D; Webersinke G
Am J Med Genet A; 2014 Dec; 164A(12):3126-31. PubMed ID: 25250687
[TBL] [Abstract][Full Text] [Related]
2. Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B.
Halgren C; Kjaergaard S; Bak M; Hansen C; El-Schich Z; Anderson CM; Henriksen KF; Hjalgrim H; Kirchhoff M; Bijlsma EK; Nielsen M; den Hollander NS; Ruivenkamp CA; Isidor B; Le Caignec C; Zannolli R; Mucciolo M; Renieri A; Mari F; Anderlid BM; Andrieux J; Dieux A; Tommerup N; Bache I
Clin Genet; 2012 Sep; 82(3):248-55. PubMed ID: 21801163
[TBL] [Abstract][Full Text] [Related]
3. A balanced translocation t(6;14)(q25.3;q13.2) leading to reciprocal fusion transcripts in a patient with intellectual disability and agenesis of corpus callosum.
Backx L; Seuntjens E; Devriendt K; Vermeesch J; Van Esch H
Cytogenet Genome Res; 2011; 132(3):135-43. PubMed ID: 21042007
[TBL] [Abstract][Full Text] [Related]
4. A novel familial autosomal dominant mutation in ARID1B causing neurodevelopmental delays, short stature, and dysmorphic features.
Smith JA; Holden KR; Friez MJ; Jones JR; Lyons MJ
Am J Med Genet A; 2016 Dec; 170(12):3313-3318. PubMed ID: 27570168
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature.
Yu Y; Yao R; Wang L; Fan Y; Huang X; Hirschhorn J; Dauber A; Shen Y
BMC Genomics; 2015 Sep; 16(1):701. PubMed ID: 26376624
[TBL] [Abstract][Full Text] [Related]
7. A novel microduplication of ARID1B: Clinical, genetic, and proteomic findings.
Seabra CM; Szoko N; Erdin S; Ragavendran A; Stortchevoi A; Maciel P; Lundberg K; Schlatzer D; Smith J; Talkowski ME; Gusella JF; Natowicz MR
Am J Med Genet A; 2017 Sep; 173(9):2478-2484. PubMed ID: 28691782
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. Clinical and genetic characterization of a patient with SOX5 haploinsufficiency caused by a de novo balanced reciprocal translocation.
Fukushi D; Yamada K; Suzuki K; Inaba M; Nomura N; Suzuki Y; Katoh K; Mizuno S; Wakamatsu N
Gene; 2018 May; 655():65-70. PubMed ID: 29477873
[TBL] [Abstract][Full Text] [Related]
11. Interstitial 6q25 microdeletion syndrome: ARID1B is the key gene.
Ronzoni L; Tagliaferri F; Tucci A; Baccarin M; Esposito S; Milani D
Am J Med Genet A; 2016 May; 170A(5):1257-61. PubMed ID: 26754677
[TBL] [Abstract][Full Text] [Related]
12. ZNF462 and KLF12 are disrupted by a de novo translocation in a patient with syndromic intellectual disability and autism spectrum disorder.
Cosemans N; Vandenhove L; Maljaars J; Van Esch H; Devriendt K; Baldwin A; Fryns JP; Noens I; Peeters H
Eur J Med Genet; 2018 Jul; 61(7):376-383. PubMed ID: 29427787
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. 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]
16. Corpus callosum metrics predict severity of visuospatial and neuromotor dysfunctions in ARID1B mutations with Coffin-Siris syndrome.
Demily C; Duwime C; Lopez C; Hemimou C; Poisson A; Plasse J; Robert MP; Dénier C; Rossi M; Franck N; Besmond C; Barcia G; Boddaert N; Munnich A; Vaivre-Douret L
Psychiatr Genet; 2019 Dec; 29(6):237-242. PubMed ID: 30933046
[TBL] [Abstract][Full Text] [Related]
17. 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]
18.
Celen C; Chuang JC; Luo X; Nijem N; Walker AK; Chen F; Zhang S; Chung AS; Nguyen LH; Nassour I; Budhipramono A; Sun X; Bok LA; McEntagart M; Gevers EF; Birnbaum SG; Eisch AJ; Powell CM; Ge WP; Santen GW; Chahrour M; Zhu H
Elife; 2017 Jul; 6():. PubMed ID: 28695822
[TBL] [Abstract][Full Text] [Related]
19. Multiple Congenital Anomalies and Global Developmental Delay in a Patient with Interstitial 6q25.2q26 Deletion: A Diagnostic Odyssey.
Paulraj P; Palumbos JC; Openshaw A; Carey JC; Toydemir RM
Cytogenet Genome Res; 2018; 156(4):191-196. PubMed ID: 30439704
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
