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Items: 1 to 20 of 93

1.
2.

Inv dup del(10q): identification by fluorescence in situ hybridization and array comparative genomic hybridization in a fetus with two concurrent chromosomal rearrangements.

Chen CP, Chen M, Su YN, Huang JP, Ma GC, Chang SP, Chern SR, Chen YT, Su JW, Lee CC, Town DD, Wang W.

Taiwan J Obstet Gynecol. 2012 Jun;51(2):245-52. doi: 10.1016/j.tjog.2012.04.015.

3.

Subtelomeric chromosomal rearrangements detected in patients with idiopathic mental retardation and dysmorphic features.

Caliskan MO, Karauzum SB, Mihci E, Tacoy S, Luleci G.

Genet Couns. 2005;16(2):129-38.

PMID:
16080292
4.

Characterisation of complex chromosome 18p rearrangements in two syndromic patients with immunological deficits.

Recalcati MP, Valtorta E, Romitti L, Giardino D, Manfredini E, Vaccari R, Larizza L, Finelli P.

Eur J Med Genet. 2010 Jul-Aug;53(4):186-91. doi: 10.1016/j.ejmg.2010.04.002. Epub 2010 Apr 11.

PMID:
20388564
5.

Two independent chromosomal rearrangements, a very small (550 kb) duplication of the 7q subtelomeric region and an atypical 17q11.2 (NF1) microdeletion, in a girl with neurofibromatosis.

Bartsch O, Vlcková Z, Erdogan F, Ullmann R, Novotná D, Spiegel M, Beyer V, Haaf T, Zechner U, Seemanová E.

Cytogenet Genome Res. 2007;119(1-2):158-64. Epub 2007 Dec 14.

PMID:
18160797
6.

A patient defines the interstitial 1q deletion syndrome characterized by antithrombin III deficiency.

Pallotta R, Dalprà L, Miozzo M, Ehresmann T, Fusilli P.

Am J Med Genet. 2001 Dec 15;104(4):282-6.

PMID:
11754060
7.

Molecular characterization of a patient with 3p deletion syndrome and a review of the literature.

Fernandez TV, García-González IJ, Mason CE, Hernández-Zaragoza G, Ledezma-Rodríguez VC, Anguiano-Alvarez VM, E'Vega R, Gutiérrez-Angulo M, Maya ML, García-Bejarano HE, González-Cruz M, Barrios S, Atorga R, López-Cardona MG, Armendariz-Borunda J, State MW, Dávalos NO.

Am J Med Genet A. 2008 Nov 1;146A(21):2746-52. doi: 10.1002/ajmg.a.32533. Review.

PMID:
18837054
8.

[Cytogenetic and molecular characterization of partial trisomy 4q and partial monosomy 10q in a patient].

Zhang YL, Dai Y, Tu ZG, Li QY, Wang LQ, Zhang L, Zeng J, Ouyang ZB.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010 Apr;27(2):153-7. doi: 10.3760/cma.j.issn.1003-9406.2010.02.008. Chinese.

PMID:
20376795
9.

Array-CGH in a series of 30 patients with mental retardation, dysmorphic features, and congenital malformations detected an interstitial 1p22.2-p31.1 deletion in a patient with features overlapping the Goldenhar syndrome.

Callier P, Faivre L, Thauvin-Robinet C, Marle N, Mosca AL, D'Athis P, Guy J, Masurel-Paulet A, Joly L, Guiraud S, Teyssier JR, Huet F, Mugneret F.

Am J Med Genet A. 2008 Aug 15;146A(16):2109-15. doi: 10.1002/ajmg.a.32447.

PMID:
18629884
10.

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
11.

De novo complex chromosomal rearrangements (CCR) involving chromosome 1, 5, and 6 resulting in microdeletion for 6q14 in a female carrier with psychotic disorder.

Lespinasse J, Bugge M, Réthoré MO, North MO, Lundsteen C, Kirchhoff M.

Am J Med Genet A. 2004 Jul 15;128A(2):199-203.

PMID:
15214017
12.

Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: is less more?

Bejjani BA, Saleki R, Ballif BC, Rorem EA, Sundin K, Theisen A, Kashork CD, Shaffer LG.

Am J Med Genet A. 2005 Apr 30;134(3):259-67.

PMID:
15723295
13.

Untreated growth hormone deficiency with extremely short stature, bone dysplasia, cleft lip--palate and severe mental retardation in a 26-year-old man with a de novo unbalanced translocation t(1;12)(q24;q24).

Callier P, Faivre L, Marle N, Thauvin-Robinet C, Mosca AL, Masurel-Paulet A, Borgnon J, Falcon-Eicher S, Danino A, Malka G, Le Merrer M, Huet F, Mugneret F.

Eur J Med Genet. 2007 Nov-Dec;50(6):455-64. Epub 2007 Jul 20.

PMID:
17720646
14.

Prenatal diagnosis and molecular characterization of an interstitial 1q24.2q25.2 deletion.

Chaabouni M, Martinovic J, Sanlaville D, Attié-Bittach T, Caillat S, Turleau C, Vekemans M, Morichon N.

Eur J Med Genet. 2006 Nov-Dec;49(6):487-93. Epub 2006 Apr 25. Review.

PMID:
17142120
15.

Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14.

Ungaro P, Christian SL, Fantes JA, Mutirangura A, Black S, Reynolds J, Malcolm S, Dobyns WB, Ledbetter DH.

J Med Genet. 2001 Jan;38(1):26-34.

16.

Chromosomal changes detected by fluorescence in situ hybridization in patients with acute lymphoblastic leukemia.

Zhang L, Parkhurst JB, Kern WF, Scott KV, Niccum D, Mulvihill JJ, Li S.

Chin Med J (Engl). 2003 Sep;116(9):1298-303.

PMID:
14527352
17.

Multiple cysts of the corpus callosum and psychomotor delay in a patient with a 3.1 Mb 15q24.1q24.2 interstitial deletion identified by array-CGH.

Masurel-Paulet A, Callier P, Thauvin-Robinet C, Chouchane M, Mejean N, Marle N, Mosca AL, Ben Salem D, Giroud M, Guibaud L, Huet F, Mugneret F, Faivre L.

Am J Med Genet A. 2009 Jul;149A(7):1504-10. doi: 10.1002/ajmg.a.32904.

PMID:
19533778
18.

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
19.

Identification of critical regions for clinical features of distal 10q deletion syndrome.

Yatsenko SA, Kruer MC, Bader PI, Corzo D, Schuette J, Keegan CE, Nowakowska B, Peacock S, Cai WW, Peiffer DA, Gunderson KL, Ou Z, Chinault AC, Cheung SW.

Clin Genet. 2009 Jul;76(1):54-62. doi: 10.1111/j.1399-0004.2008.01115.x. Epub 2009 Jun 22.

20.

Interstitial deletion of 1p22.2p31.1 and medium-chain acyl-CoA dehydrogenase deficiency in a patient with global developmental delay.

Maegawa GH, Poplawski NK, Andresen BS, Olpin SE, Nie G, Clarke JT, Teshima I.

Am J Med Genet A. 2008 Jun 15;146A(12):1581-6. doi: 10.1002/ajmg.a.32255. Review.

PMID:
18478588

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