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Similar articles for PubMed (Select 20358614)

1.

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
2.

New cases and refinement of the critical region in the 1q41q42 microdeletion syndrome.

Rosenfeld JA, Lacassie Y, El-Khechen D, Escobar LF, Reggin J, Heuer C, Chen E, Jenkins LS, Collins AT, Zinner S, Babcock M, Morrow B, Schultz RA, Torchia BS, Ballif BC, Tsuchiya KD, Shaffer LG.

Eur J Med Genet. 2011 Jan-Feb;54(1):42-9. doi: 10.1016/j.ejmg.2010.10.002. Epub 2010 Oct 15.

PMID:
20951845
3.

The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome.

Shaffer LG, Theisen A, Bejjani BA, Ballif BC, Aylsworth AS, Lim C, McDonald M, Ellison JW, Kostiner D, Saitta S, Shaikh T.

Genet Med. 2007 Sep;9(9):607-16. Review.

PMID:
17873649
4.

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
5.

Clinical characterization of DISP1 haploinsufficiency: A case report.

Jun KR, Hur YJ, Lee JN, Kim HR, Shin JH, Oh SH, Lee JY, Seo EJ.

Eur J Med Genet. 2013 Jun;56(6):309-13. doi: 10.1016/j.ejmg.2013.03.007. Epub 2013 Mar 28.

PMID:
23542665
6.

Interstitial deletion of 18q: comparative genomic hybridization array analysis of 46, XX,del(18)(q21.2.q21.33).

Kato Z, Morimoto W, Kimura T, Matsushima A, Kondo N.

Birth Defects Res A Clin Mol Teratol. 2010 Feb;88(2):132-5. doi: 10.1002/bdra.20633.

PMID:
19813260
7.

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
8.

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
9.

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
10.

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
11.

Patient with novel interstitial deletion of chromosome 3q13.1q13.3 and agenesis of the corpus callosum.

Lawson-Yuen A, Berend SA, Soul JS, Irons M.

Clin Dysmorphol. 2006 Oct;15(4):217-20. Review.

PMID:
16957476
12.

Contiguous ∼16 Mb 1p36 deletion: Dominant features of classical distal 1p36 monosomy with haplo-lethality.

Nicoulaz A, Rubi F, Lieder L, Wolf R, Goeggel-Simonetti B, Steinlin M, Wiest R, Bonel HM, Schaller A, Gallati S, Conrad B.

Am J Med Genet A. 2011 Aug;155A(8):1964-8. doi: 10.1002/ajmg.a.33210. Epub 2011 Jul 7.

PMID:
21739569
13.

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
14.

De novo interstitial deletion of chromosome 1p with absent corpus callosum--a case report.

Sivasankaran S, Ho NK, Knight L.

Ann Acad Med Singapore. 1997 Jul;26(4):507-9.

PMID:
9395821
15.

Agenesis of the corpus callosum associated with DiGeorge-velocardiofacial syndrome: a case report and review of the literature.

Kraynack NC, Hostoffer RW, Robin NH.

J Child Neurol. 1999 Nov;14(11):754-6. Review.

PMID:
10593557
17.

The proximal chromosome 14q microdeletion syndrome: delineation of the phenotype using high resolution SNP oligonucleotide microarray analysis (SOMA) and review of the literature.

Torgyekes E, Shanske AL, Anyane-Yeboa K, Nahum O, Pirzadeh S, Blumfield E, Jobanputra V, Warburton D, Levy B.

Am J Med Genet A. 2011 Aug;155A(8):1884-96. doi: 10.1002/ajmg.a.34090. Epub 2011 Jul 8. Review.

PMID:
21744488
18.

Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome.

Johnston JJ, Olivos-Glander I, Turner J, Aleck K, Bird LM, Mehta L, Schimke RN, Heilstedt H, Spence JE, Blancato J, Biesecker LG.

Am J Med Genet A. 2003 Dec 15;123A(3):236-42.

PMID:
14608643
19.

Molecular characterization of a monosomy 1p36 presenting as an Aicardi syndrome phenocopy.

Bursztejn AC, Bronner M, Peudenier S, Grégoire MJ, Jonveaux P, Nemos C.

Am J Med Genet A. 2009 Nov;149A(11):2493-500. doi: 10.1002/ajmg.a.33051.

PMID:
19842196
20.

Proximal interstitial 1p36 deletion syndrome: the most proximal 3.5-Mb microdeletion identified on a dysmorphic and mentally retarded patient with inv(3)(p14.1q26.2).

Shimojima K, Páez MT, Kurosawa K, Yamamoto T.

Brain Dev. 2009 Sep;31(8):629-33. doi: 10.1016/j.braindev.2008.08.013. Epub 2008 Oct 5.

PMID:
18835671
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