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Items: 1 to 20 of 207

1.

Haploinsufficiency of ZNF238 is associated with corpus callosum abnormalities in 1q44 deletions.

Perlman SJ, Kulkarni S, Manwaring L, Shinawi M.

Am J Med Genet A. 2013 Apr;161A(4):711-6. doi: 10.1002/ajmg.a.35779. Epub 2013 Mar 12.

PMID:
23494996
2.

A de novo 163 kb interstitial 1q44 microdeletion in a boy with thin corpus callosum, psychomotor delay and seizures.

Selmer KK, Bryne E, Rødningen OK, Fannemel M.

Eur J Med Genet. 2012 Dec;55(12):715-8. doi: 10.1016/j.ejmg.2012.08.005. Epub 2012 Aug 23.

PMID:
22975012
3.

Subtelomeric deletions of 1q43q44 and severe brain impairment associated with delayed myelination.

Shimojima K, Okamoto N, Suzuki Y, Saito M, Mori M, Yamagata T, Momoi MY, Hattori H, Okano Y, Hisata K, Okumura A, Yamamoto T.

J Hum Genet. 2012 Sep;57(9):593-600. doi: 10.1038/jhg.2012.77. Epub 2012 Jun 21.

PMID:
22718018
4.

High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.

Ballif BC, Rosenfeld JA, Traylor R, Theisen A, Bader PI, Ladda RL, Sell SL, Steinraths M, Surti U, McGuire M, Williams S, Farrell SA, Filiano J, Schnur RE, Coffey LB, Tervo RC, Stroud T, Marble M, Netzloff M, Hanson K, Aylsworth AS, Bamforth JS, Babu D, Niyazov DM, Ravnan JB, Schultz RA, Lamb AN, Torchia BS, Bejjani BA, Shaffer LG.

Hum Genet. 2012 Jan;131(1):145-56. doi: 10.1007/s00439-011-1073-y. Epub 2011 Jul 29.

PMID:
21800092
5.

Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44.

Nagamani SC, Erez A, Bay C, Pettigrew A, Lalani SR, Herman K, Graham BH, Nowaczyk MJ, Proud M, Craigen WJ, Hopkins B, Kozel B, Plunkett K, Hixson P, Stankiewicz P, Patel A, Cheung SW.

Eur J Hum Genet. 2012 Feb;20(2):176-9. doi: 10.1038/ejhg.2011.171. Epub 2011 Sep 21.

6.

Corpus callosum abnormalities and the controversy about the candidate genes located in 1q44.

Orellana C, Roselló M, Monfort S, Oltra S, Quiroga R, Ferrer I, Martínez F.

Cytogenet Genome Res. 2009;127(1):5-8. doi: 10.1159/000279261. Epub 2010 Jan 27.

PMID:
20110648
7.

Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene.

Caliebe A, Kroes HY, van der Smagt JJ, Martin-Subero JI, Tönnies H, van 't Slot R, Nievelstein RA, Muhle H, Stephani U, Alfke K, Stefanova I, Hellenbroich Y, Gillessen-Kaesbach G, Hochstenbach R, Siebert R, Poot M.

Eur J Med Genet. 2010 Jul-Aug;53(4):179-85. doi: 10.1016/j.ejmg.2010.04.001. Epub 2010 Apr 9.

PMID:
20382278
8.

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
9.

Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures.

Thierry G, Bénéteau C, Pichon O, Flori E, Isidor B, Popelard F, Delrue MA, Duboscq-Bidot L, Thuresson AC, van Bon BW, Cailley D, Rooryck C, Paubel A, Metay C, Dusser A, Pasquier L, Béri M, Bonnet C, Jaillard S, Dubourg C, Tou B, Quéré MP, Soussi-Zander C, Toutain A, Lacombe D, Arveiler B, de Vries BB, Jonveaux P, David A, Le Caignec C.

Am J Med Genet A. 2012 Jul;158A(7):1633-40. doi: 10.1002/ajmg.a.35423. Epub 2012 Jun 7.

10.

Identification of a de novo microdeletion 1q44 in a patient with hypogenesis of the corpus callosum, seizures and microcephaly - A case report.

Westphal DS, Andres S, Beitzel KI, Makowski C, Meitinger T, Hoefele J.

Gene. 2017 Jun 15;616:41-44. doi: 10.1016/j.gene.2017.03.025. Epub 2017 Mar 21.

PMID:
28336463
12.

Severe mental retardation, seizures, and hypotonia due to deletions of MEF2C.

Nowakowska BA, Obersztyn E, Szymańska K, Bekiesińska-Figatowska M, Xia Z, Ricks CB, Bocian E, Stockton DW, Szczałuba K, Nawara M, Patel A, Scott DA, Cheung SW, Bohan TP, Stankiewicz P.

Am J Med Genet B Neuropsychiatr Genet. 2010 Jul;153B(5):1042-51. doi: 10.1002/ajmg.b.31071.

PMID:
20333642
13.

Interstitial deletion 1q42 in a patient with agenesis of corpus callosum: Phenotype-genotype comparison to the 1q41q42 microdeletion suggests a contiguous 1q4 syndrome.

Filges I, Röthlisberger B, Boesch N, Weber P, Wenzel F, Huber AR, Heinimann K, Miny P.

Am J Med Genet A. 2010 Apr;152A(4):987-93. doi: 10.1002/ajmg.a.33330.

PMID:
20358614
14.

A 2-Mb critical region implicated in the microcephaly associated with terminal 1q deletion syndrome.

Hill AD, Chang BS, Hill RS, Garraway LA, Bodell A, Sellers WR, Walsh CA.

Am J Med Genet A. 2007 Aug 1;143A(15):1692-8.

PMID:
17603806
15.

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
16.

Delineation of the interstitial 6q25 microdeletion syndrome: refinement of the critical causative region.

Michelson M, Ben-Sasson A, Vinkler C, Leshinsky-Silver E, Netzer I, Frumkin A, Kivity S, Lerman-Sagie T, Lev D.

Am J Med Genet A. 2012 Jun;158A(6):1395-9. doi: 10.1002/ajmg.a.35361. Epub 2012 May 14.

PMID:
22585544
17.

FISH and cytogenetic characterization of a terminal chromosome 1q deletion: clinical case report and phenotypic implications.

Gentile M, Di Carlo A, Volpe P, Pansini A, Nanna P, Valenzano MC, Buonadonna AL.

Am J Med Genet A. 2003 Mar 15;117A(3):251-4.

PMID:
12599188
18.

Frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3 deletion.

Guion-Almeida ML, Richieri-Costa A, Jehee FS, Passos-Bueno MR, Zechi-Ceide RM.

Am J Med Genet A. 2012 Jul;158A(7):1676-9. doi: 10.1002/ajmg.a.35351. Epub 2012 May 24.

PMID:
22628242
19.

A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome.

de Munnik SA, García-Miñaúr S, Hoischen A, van Bon BW, Boycott KM, Schoots J, Hoefsloot LH, Knoers NV, Bongers EM, Brunner HG.

Eur J Hum Genet. 2014 Jun;22(6):844-6. doi: 10.1038/ejhg.2013.249. Epub 2013 Nov 6.

20.

1.9 Mb microdeletion of 21q22.11 within Braddock-Carey contiguous gene deletion syndrome region: dissecting the phenotype.

Izumi K, Brooks SS, Feret HA, Zackai EH.

Am J Med Genet A. 2012 Jul;158A(7):1535-41. doi: 10.1002/ajmg.a.35368. Epub 2012 May 21.

PMID:
22614953

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