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Results: 1 to 20 of 130

1.

Characterization of a recurrent 15q24 microdeletion syndrome.

Sharp AJ, Selzer RR, Veltman JA, Gimelli S, Gimelli G, Striano P, Coppola A, Regan R, Price SM, Knoers NV, Eis PS, Brunner HG, Hennekam RC, Knight SJ, de Vries BB, Zuffardi O, Eichler EE.

Hum Mol Genet. 2007 Mar 1;16(5):567-72. Epub 2007 Mar 14.

PMID:
17360722
[PubMed - indexed for MEDLINE]
Free Article
2.

Chromosome 15q24 microdeletion syndrome.

Magoulas PL, El-Hattab AW.

Orphanet J Rare Dis. 2012 Jan 4;7:2. doi: 10.1186/1750-1172-7-2. Review.

PMID:
22216833
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Further clinical and molecular delineation of the 15q24 microdeletion syndrome.

Mefford HC, Rosenfeld JA, Shur N, Slavotinek AM, Cox VA, Hennekam RC, Firth HV, Willatt L, Wheeler P, Morrow EM, Cook J, Sullivan R, Oh A, McDonald MT, Zonana J, Keller K, Hannibal MC, Ball S, Kussmann J, Gorski J, Zelewski S, Banks V, Smith W, Smith R, Paull L, Rosenbaum KN, Amor DJ, Silva J, Lamb A, Eichler EE.

J Med Genet. 2012 Feb;49(2):110-8. doi: 10.1136/jmedgenet-2011-100499. Epub 2011 Dec 17.

PMID:
22180641
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Genotype-phenotype correlation in four 15q24 deleted patients identified by array-CGH.

Andrieux J, Dubourg C, Rio M, Attie-Bitach T, Delaby E, Mathieu M, Journel H, Copin H, Blondeel E, Doco-Fenzy M, Landais E, Delobel B, Odent S, Manouvrier-Hanu S, Holder-Espinasse M.

Am J Med Genet A. 2009 Dec;149A(12):2813-9. doi: 10.1002/ajmg.a.33097.

PMID:
19921647
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisation.

Malan V, Raoul O, Firth HV, Royer G, Turleau C, Bernheim A, Willatt L, Munnich A, Vekemans M, Lyonnet S, Cormier-Daire V, Colleaux L.

J Med Genet. 2009 Sep;46(9):635-40. doi: 10.1136/jmg.2008.062034. Epub 2009 Jan 6.

PMID:
19126570
[PubMed - indexed for MEDLINE]
6.

Congenital diaphragmatic hernia is part of the new 15q24 microdeletion syndrome.

Van Esch H, Backx L, Pijkels E, Fryns JP.

Eur J Med Genet. 2009 Mar-Jun;52(2-3):153-6. doi: 10.1016/j.ejmg.2009.02.003. Epub 2009 Feb 21.

PMID:
19233321
[PubMed - indexed for MEDLINE]
7.

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant.

Hannes FD, Sharp AJ, Mefford HC, de Ravel T, Ruivenkamp CA, Breuning MH, Fryns JP, Devriendt K, Van Buggenhout G, Vogels A, Stewart H, Hennekam RC, Cooper GM, Regan R, Knight SJ, Eichler EE, Vermeesch JR.

J Med Genet. 2009 Apr;46(4):223-32. doi: 10.1136/jmg.2007.055202. Epub 2008 Jun 11.

PMID:
18550696
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Molecular and clinical characterization of two patients with Prader-Willi syndrome and atypical deletions of proximal chromosome 15q.

Calounova G, Hedvicakova P, Silhanova E, Kreckova G, Sedlacek Z.

Am J Med Genet A. 2008 Aug 1;146A(15):1955-62. doi: 10.1002/ajmg.a.32416.

PMID:
18627056
[PubMed - indexed for MEDLINE]
9.

A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical region.

McInnes LA, Nakamine A, Pilorge M, Brandt T, Jiménez González P, Fallas M, Manghi ER, Edelmann L, Glessner J, Hakonarson H, Betancur C, Buxbaum JD.

Mol Autism. 2010 Mar 19;1(1):5. doi: 10.1186/2040-2392-1-5.

PMID:
20678247
[PubMed]
Free PMC Article
10.

Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1.

Rajcan-Separovic E, Harvard C, Liu X, McGillivray B, Hall JG, Qiao Y, Hurlburt J, Hildebrand J, Mickelson EC, Holden JJ, Lewis ME.

J Med Genet. 2007 Apr;44(4):269-76. Epub 2006 Sep 8.

PMID:
16963482
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlations.

Sahoo T, Bacino CA, German JR, Shaw CA, Bird LM, Kimonis V, Anselm I, Waisbren S, Beaudet AL, Peters SU.

Eur J Hum Genet. 2007 Sep;15(9):943-9. Epub 2007 May 23.

PMID:
17522620
[PubMed - indexed for MEDLINE]
Free Article
12.

A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH.

Klopocki E, Graul-Neumann LM, Grieben U, Tönnies H, Ropers HH, Horn D, Mundlos S, Ullmann R.

Eur J Pediatr. 2008 Aug;167(8):903-8. Epub 2007 Oct 12.

PMID:
17932688
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping.

El-Hattab AW, Smolarek TA, Walker ME, Schorry EK, Immken LL, Patel G, Abbott MA, Lanpher BC, Ou Z, Kang SH, Patel A, Scaglia F, Lupski JR, Cheung SW, Stankiewicz P.

Hum Genet. 2009 Oct;126(4):589-602. doi: 10.1007/s00439-009-0706-x. Epub 2009 Jun 26.

PMID:
19557438
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

An additional case of the recurrent 15q24.1 microdeletion syndrome and review of the literature.

L Ng IS, Chin WH, P Lim EC, Tan EC.

Twin Res Hum Genet. 2011 Aug;14(4):333-9. doi: 10.1375/twin.14.4.333. Review.

PMID:
21787116
[PubMed - indexed for MEDLINE]
15.

Low copy repeats mediate distal chromosome 22q11.2 deletions: sequence analysis predicts breakpoint mechanisms.

Shaikh TH, O'Connor RJ, Pierpont ME, McGrath J, Hacker AM, Nimmakayalu M, Geiger E, Emanuel BS, Saitta SC.

Genome Res. 2007 Apr;17(4):482-91. Epub 2007 Mar 9.

PMID:
17351135
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome.

Willatt L, Cox J, Barber J, Cabanas ED, Collins A, Donnai D, FitzPatrick DR, Maher E, Martin H, Parnau J, Pindar L, Ramsay J, Shaw-Smith C, Sistermans EA, Tettenborn M, Trump D, de Vries BB, Walker K, Raymond FL.

Am J Hum Genet. 2005 Jul;77(1):154-60. Epub 2005 May 25.

PMID:
15918153
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Novel microdeletion syndromes detected by chromosome microarrays.

Slavotinek AM.

Hum Genet. 2008 Aug;124(1):1-17. doi: 10.1007/s00439-008-0513-9. Epub 2008 May 30. Review.

PMID:
18512078
[PubMed - indexed for MEDLINE]
18.

Chromosome breakage hotspots and delineation of the critical region for the 9p-deletion syndrome.

Christ LA, Crowe CA, Micale MA, Conroy JM, Schwartz S.

Am J Hum Genet. 1999 Nov;65(5):1387-95.

PMID:
10521304
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Genotype-phenotype mapping of chromosome 18q deletions by high-resolution array CGH: an update of the phenotypic map.

Feenstra I, Vissers LE, Orsel M, van Kessel AG, Brunner HG, Veltman JA, van Ravenswaaij-Arts CM.

Am J Med Genet A. 2007 Aug 15;143A(16):1858-67.

PMID:
17632778
[PubMed - indexed for MEDLINE]
20.

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
[PubMed - indexed for MEDLINE]

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