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Items: 1 to 20 of 147

1.

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. doi: 10.1111/j.1399-0004.2011.01755.x. Epub 2011 Aug 24.

2.

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. doi: 10.1002/ajmg.a.36738. Epub 2014 Sep 22.

PMID:
25250687
3.

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 18;44(4):379-80. doi: 10.1038/ng.2217.

PMID:
22426309
4.

ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability.

Mignot C, Moutard ML, Rastetter A, Boutaud L, Heide S, Billette T, Doummar D, Garel C, Afenjar A, Jacquette A, Lacombe D, Verloes A, Bole-Feysot C, Nitschké P, Masson C, Faudet A, Lesne F, Bienvenu T, Alby C, Attié-Bitach T, Depienne C, Nava C, Héron D.

Brain. 2016 Nov 1;139(11):e64. doi: 10.1093/brain/aww181. No abstract available.

PMID:
27474218
5.

Reply: ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability.

Edwards TJ, Sherr EH, Barkovich AJ, Richards LJ.

Brain. 2016 Nov 1;139(11):e65. doi: 10.1093/brain/aww171. No abstract available.

PMID:
27474217
6.

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. doi: 10.1159/000321577. Epub 2010 Oct 30.

PMID:
21042007
7.

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 27;9:43. doi: 10.1186/1750-1172-9-43.

8.

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. doi: 10.1002/ajmg.a.38327. Epub 2017 Jul 10.

PMID:
28691782
9.

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. doi: 10.1002/ajmg.a.37553. Epub 2016 Jan 11.

PMID:
26754677
10.

Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly.

Shoichet SA, Kunde SA, Viertel P, Schell-Apacik C, von Voss H, Tommerup N, Ropers HH, Kalscheuer VM.

Hum Genet. 2005 Oct;117(6):536-44. Epub 2005 Aug 17.

PMID:
16133170
11.

A de novo nonsense mutation in ZBTB18 plus a de novo 15q13.3 microdeletion in a 6-year-old female.

Ehmke N, Karge S, Buchmann J, Korinth D, Horn D, Reis O, Häßler F.

Am J Med Genet A. 2017 May;173(5):1251-1256. doi: 10.1002/ajmg.a.38145. Epub 2017 Mar 27.

PMID:
28345786
12.

Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability.

Heide S, Keren B, Billette de Villemeur T, Chantot-Bastaraud S, Depienne C, Nava C, Mignot C, Jacquette A, Fonteneau E, Lejeune E, Mach C, Marey I, Whalen S, Lacombe D, Naudion S, Rooryck C, Toutain A, Caignec CL, Haye D, Olivier-Faivre L, Masurel-Paulet A, Thauvin-Robinet C, Lesne F, Faudet A, Ville D, des Portes V, Sanlaville D, Siffroi JP, Moutard ML, Héron D.

J Pediatr. 2017 Jun;185:160-166.e1. doi: 10.1016/j.jpeds.2017.02.023. Epub 2017 Mar 8.

PMID:
28284480
13.

Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases.

Novara F, Rinaldi B, Sisodiya SM, Coppola A, Giglio S, Stanzial F, Benedicenti F, Donaldson A, Andrieux J, Stapleton R, Weber A, Reho P, van Ravenswaaij-Arts C, Kerstjens-Frederikse WS, Vermeesch JR, Devriendt K, Bacino CA, Delahaye A, Maas SM, Iolascon A, Zuffardi O.

Eur J Hum Genet. 2017 Jun;25(6):694-701. doi: 10.1038/ejhg.2017.49. Epub 2017 Apr 19.

14.

De novo 5q14.3 translocation 121.5-kb upstream of MEF2C in a patient with severe intellectual disability and early-onset epileptic encephalopathy.

Saitsu H, Igarashi N, Kato M, Okada I, Kosho T, Shimokawa O, Sasaki Y, Nishiyama K, Tsurusaki Y, Doi H, Miyake N, Harada N, Hayasaka K, Matasumoto N.

Am J Med Genet A. 2011 Nov;155A(11):2879-84. doi: 10.1002/ajmg.a.34289. Epub 2011 Oct 11.

PMID:
21990267
15.

De novo satellited 2q associated with corpus callosum dysgenesis, short stature, mental retardation and developmental delay.

Chen CP, Lin SP, Huang YL, Chern SR, Su JW, Lee CC, Chen WL, Wang W.

Genet Couns. 2012;23(4):497-503.

PMID:
23431751
16.

Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features.

Cohen JS, Srivastava S, Farwell Hagman KD, Shinde DN, Huether R, Darcy D, Wallerstein R, Houge G, Berland S, Monaghan KG, Poretti A, Wilson AL, Chung WK, Fatemi A.

Clin Genet. 2017 May;91(5):697-707. doi: 10.1111/cge.12861. Epub 2016 Oct 10.

PMID:
27598823
17.

First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic features.

Kloth K, Denecke J, Hempel M, Johannsen J, Strom TM, Kubisch C, Lessel D.

Eur J Med Genet. 2017 Sep;60(9):494-498. doi: 10.1016/j.ejmg.2017.07.001. Epub 2017 Jul 4.

PMID:
28687526
18.

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. doi: 10.1002/ajmg.a.35933. Epub 2013 May 1. Review.

PMID:
23637025
19.

Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients.

Schell-Apacik CC, Wagner K, Bihler M, Ertl-Wagner B, Heinrich U, Klopocki E, Kalscheuer VM, Muenke M, von Voss H.

Am J Med Genet A. 2008 Oct 1;146A(19):2501-11. doi: 10.1002/ajmg.a.32476.

20.

Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity.

Witteveen JS, Willemsen MH, Dombroski TC, van Bakel NH, Nillesen WM, van Hulten JA, Jansen EJ, Verkaik D, Veenstra-Knol HE, van Ravenswaaij-Arts CM, Wassink-Ruiter JS, Vincent M, David A, Le Caignec C, Schieving J, Gilissen C, Foulds N, Rump P, Strom T, Cremer K, Zink AM, Engels H, de Munnik SA, Visser JE, Brunner HG, Martens GJ, Pfundt R, Kleefstra T, Kolk SM.

Nat Genet. 2016 Aug;48(8):877-87. doi: 10.1038/ng.3619. Epub 2016 Jul 11.

PMID:
27399968

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