Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 189

1.

Rapid array-based genomic characterization of a subtle structural abnormality: a patient with psychosis and der(18)t(5;18)(p14.1;p11.23).

Drazinic CM, Ercan-Sencicek AG, Gault LM, Hisama FM, Qumsiyeh MB, Nowak NJ, Cubells JF, State MW.

Am J Med Genet A. 2005 Apr 30;134(3):282-9.

PMID:
15754353
[PubMed - indexed for MEDLINE]
2.

Cryptic unbalanced translocation t(17;18)(p13.2;q22.3) identified by subtelomeric FISH and defined by array-based comparative genomic hybridization in a patient with mental retardation and dysmorphic features.

Hwang KS, Pearson MA, Stankiewicz P, Lennon PA, Cooper ML, Wu J, Ou Z, Cai WW, Patel A, Cheung SW.

Am J Med Genet A. 2005 Aug 15;137(1):88-93.

PMID:
16015583
[PubMed - indexed for MEDLINE]
3.

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
[PubMed - indexed for MEDLINE]
4.

Elucidation of a cryptic interstitial 7q31.3 deletion in a patient with a language disorder and mild mental retardation by array-CGH.

Tyson C, McGillivray B, Chijiwa C, Rajcan-Separovic E.

Am J Med Genet A. 2004 Sep 1;129A(3):254-60.

PMID:
15326624
[PubMed - indexed for MEDLINE]
5.

BAC array CGH reveals genomic aberrations in idiopathic mental retardation.

Miyake N, Shimokawa O, Harada N, Sosonkina N, Okubo A, Kawara H, Okamoto N, Kurosawa K, Kawame H, Iwakoshi M, Kosho T, Fukushima Y, Makita Y, Yokoyama Y, Yamagata T, Kato M, Hiraki Y, Nomura M, Yoshiura K, Kishino T, Ohta T, Mizuguchi T, Niikawa N, Matsumoto N.

Am J Med Genet A. 2006 Feb 1;140(3):205-11.

PMID:
16419101
[PubMed - indexed for MEDLINE]
6.

Array-based comparative genomic hybridization facilitates identification of breakpoints of a novel der(1)t(1;18)(p36.3;q23)dn in a child presenting with mental retardation.

Lennon PA, Cooper ML, Curtis MA, Lim C, Ou Z, Patel A, Cheung SW, Bacino CA.

Am J Med Genet A. 2006 Jun 1;140(11):1156-63.

PMID:
16688748
[PubMed - indexed for MEDLINE]
7.

Molecular characterization of a patient with central nervous system dysmyelination and cryptic unbalanced translocation between chromosomes 4q and 18q.

Gunn SR, Mohammed M, Reveles XT, Viskochil DH, Palumbos JC, Johnson-Pais TL, Hale DE, Lancaster JL, Hardies LJ, Boespflug-Tanguy O, Cody JD, Leach RJ.

Am J Med Genet A. 2003 Jul 1;120A(1):127-35.

PMID:
12794705
[PubMed - indexed for MEDLINE]
8.

Characterization of a de novo balanced translocation in a patient with moderate mental retardation and dysmorphic features.

Haddad MR, Mignon-Ravix C, Cacciagli P, Mégarbané A, Villard L.

Eur J Med Genet. 2009 Jul-Aug;52(4):211-7. doi: 10.1016/j.ejmg.2009.04.002. Epub 2009 Apr 18.

PMID:
19379847
[PubMed - indexed for MEDLINE]
9.

Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders.

Shaw CJ, Shaw CA, Yu W, Stankiewicz P, White LD, Beaudet AL, Lupski JR.

J Med Genet. 2004 Feb;41(2):113-9.

PMID:
14757858
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Detection of cryptic chromosome aberrations in a patient with a balanced t(1;9)(p34.2;p24) by array-based comparative genomic hybridization.

Hayashi S, Kurosawa K, Imoto I, Mizutani S, Inazawa J.

Am J Med Genet A. 2005 Nov 15;139(1):32-6.

PMID:
16222686
[PubMed - indexed for MEDLINE]
11.

Small supernumerary marker chromosome originating from chromosome 10 associated with an apparently normal phenotype.

Sung PL, Chang SP, Wen KC, Chang CM, Yang MJ, Chen LC, Chao KC, Huang CY, Li YC, Lin CC.

Am J Med Genet A. 2009 Dec;149A(12):2768-74. doi: 10.1002/ajmg.a.32878.

PMID:
19921638
[PubMed - indexed for MEDLINE]
12.

Combined array-comparative genomic hybridization and single-nucleotide polymorphism-loss of heterozygosity analysis reveals complex genetic alterations in cervical cancer.

Kloth JN, Oosting J, van Wezel T, Szuhai K, Knijnenburg J, Gorter A, Kenter GG, Fleuren GJ, Jordanova ES.

BMC Genomics. 2007 Feb 20;8:53.

PMID:
17311676
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

A patient with mosaic partial trisomy 18 resulting from dicentric chromosome breakage.

Morrissette JJ, Medne L, Bentley T, Owens NL, Geiger E, Pipan M, Zackai EH, Shaikh T, Spinner NB.

Am J Med Genet A. 2005 Aug 30;137(2):208-12.

PMID:
16082706
[PubMed - indexed for MEDLINE]
14.

Characterization of an interstitial 4q32 deletion in a patient with mental retardation and a complex chromosome rearrangement.

Tzschach A, Menzel C, Erdogan F, Istifli ES, Rieger M, Ovens-Raeder A, Macke A, Ropers HH, Ullmann R, Kalscheuer V.

Am J Med Genet A. 2010 Apr;152A(4):1008-12. doi: 10.1002/ajmg.a.33343.

PMID:
20358617
[PubMed - indexed for MEDLINE]
15.

[A de novo partial 5p deletion and cryptic 18p duplication detected by SNP-Array in a boy featuring Cri du Chat syndrome].

Hu JC, Tan K, Cheng DH, Li LY, Lu GX, Tan YQ.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Feb;30(1):87-90. doi: 10.3760/cma.j.issn.1003-9406.2013.01.021. Chinese.

PMID:
23450488
[PubMed - indexed for MEDLINE]
16.

Molecular cytogenetic characterization of eight small supernumerary marker chromosomes originating from chromosomes 2, 4, 8, 18, and 21 in three patients.

Pietrzak J, Mrasek K, Obersztyn E, Stankiewicz P, Kosyakova N, Weise A, Cheung SW, Cai WW, von Eggeling F, Mazurczak T, Bocian E, Liehr T.

J Appl Genet. 2007;48(2):167-75.

PMID:
17495351
[PubMed - indexed for MEDLINE]
17.

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
[PubMed - indexed for MEDLINE]
18.

Del(18p) shown to be a cryptic translocation using a multiprobe FISH assay for subtelomeric chromosome rearrangements.

Horsley SW, Knight SJ, Nixon J, Huson S, Fitchett M, Boone RA, Hilton-Jones D, Flint J, Kearney L.

J Med Genet. 1998 Sep;35(9):722-6.

PMID:
9733029
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Partial 5p monosomy or trisomy in 11 patients from a family with a t(5;15)(p13.3;p12) translocation.

de Carvalho AF, da Silva Bellucco FT, Kulikowski LD, Toralles MB, Melaragno MI.

Hum Genet. 2008 Nov;124(4):387-92. doi: 10.1007/s00439-008-0557-x. Epub 2008 Sep 7.

PMID:
18777129
[PubMed - indexed for MEDLINE]
20.

High-density genome array is superior to fluorescence in-situ hybridization analysis of monosomy 3 in choroidal melanoma fine needle aspiration biopsy.

Young TA, Burgess BL, Rao NP, Gorin MB, Straatsma BR.

Mol Vis. 2007 Dec 21;13:2328-33.

PMID:
18199974
[PubMed - indexed for MEDLINE]
Free Article

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk