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Items: 1 to 20 of 467

1.

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.

2.

Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies.

Vissers LE, Stankiewicz P, Yatsenko SA, Crawford E, Creswick H, Proud VK, de Vries BB, Pfundt R, Marcelis CL, Zackowski J, Bi W, van Kessel AG, Lupski JR, Veltman JA.

Hum Genet. 2007 Jul;121(6):697-709. Epub 2007 Apr 25.

3.

Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations.

Le Caignec C, Boceno M, Saugier-Veber P, Jacquemont S, Joubert M, David A, Frebourg T, Rival JM.

J Med Genet. 2005 Feb;42(2):121-8.

4.

Genome architecture catalyzes nonrecurrent chromosomal rearrangements.

Stankiewicz P, Shaw CJ, Dapper JD, Wakui K, Shaffer LG, Withers M, Elizondo L, Park SS, Lupski JR.

Am J Hum Genet. 2003 May;72(5):1101-16. Epub 2003 Mar 20.

5.

DNA copy-number analysis of the 22q11 deletion-syndrome region using array-CGH with genomic and PCR-based targets.

Mantripragada KK, Tapia-Páez I, Blennow E, Nilsson P, Wedell A, Dumanski JP.

Int J Mol Med. 2004 Feb;13(2):273-9.

PMID:
14719134
6.
7.

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
8.

Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization.

del Gaudio D, Yang Y, Boggs BA, Schmitt ES, Lee JA, Sahoo T, Pham HT, Wiszniewska J, Chinault AC, Beaudet AL, Eng CM.

Hum Mutat. 2008 Sep;29(9):1100-7. doi: 10.1002/humu.20841.

PMID:
18752307
9.

Copy number variation at the breakpoint region of isochromosome 17q.

Carvalho CM, Lupski JR.

Genome Res. 2008 Nov;18(11):1724-32. doi: 10.1101/gr.080697.108. Epub 2008 Aug 19.

10.

Analytical and clinical validity of whole-genome oligonucleotide array comparative genomic hybridization for pediatric patients with mental retardation and developmental delay.

Xiang B, Li A, Valentin D, Nowak NJ, Zhao H, Li P.

Am J Med Genet A. 2008 Aug 1;146A(15):1942-54. doi: 10.1002/ajmg.a.32411.

PMID:
18627053
11.

Microarray-based comparative genomic hybridization and its applications in human genetics.

Oostlander AE, Meijer GA, Ylstra B.

Clin Genet. 2004 Dec;66(6):488-95. Review.

PMID:
15521975
12.

Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features.

Shaw-Smith C, Redon R, Rickman L, Rio M, Willatt L, Fiegler H, Firth H, Sanlaville D, Winter R, Colleaux L, Bobrow M, Carter NP.

J Med Genet. 2004 Apr;41(4):241-8.

13.

Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation.

Koolen DA, Reardon W, Rosser EM, Lacombe D, Hurst JA, Law CJ, Bongers EM, van Ravenswaaij-Arts CM, Leisink MA, van Kessel AG, Veltman JA, de Vries BB.

Eur J Hum Genet. 2005 Sep;13(9):1019-24.

14.

Prenatal diagnosis of a 9q34.3 microdeletion by array-CGH in a fetus with an apparently balanced translocation.

Simovich MJ, Yatsenko SA, Kang SH, Cheung SW, Dudek ME, Pursley A, Ward PA, Patel A, Lupski JR.

Prenat Diagn. 2007 Dec;27(12):1112-7.

PMID:
17849500
15.

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.

16.

Chromosome 2 (2p16) abnormalities in Carney complex tumours.

Matyakhina L, Pack S, Kirschner LS, Pak E, Mannan P, Jaikumar J, Taymans SE, Sandrini F, Carney JA, Stratakis CA.

J Med Genet. 2003 Apr;40(4):268-77.

17.

Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements.

Dimitrov BI, de Ravel T, Van Driessche J, de Die-Smulders C, Toutain A, Vermeesch JR, Fryns JP, Devriendt K, Debeer P.

J Med Genet. 2010 Feb;47(2):103-11. doi: 10.1136/jmg.2008.065888. Epub 2009 Jul 6.

PMID:
19584065
18.

Cytogenetic and array CGH characterization of de novo 1p36 duplications and deletion in a patient with congenital cataracts, hearing loss, choanal atresia, and mental retardation.

Chen E, Obolensky E, Rauen KA, Shaffer LG, Li X.

Am J Med Genet A. 2008 Nov 1;146A(21):2785-90. doi: 10.1002/ajmg.a.32437.

PMID:
18924166
19.

Genomic profiling of myeloid sarcoma by array comparative genomic hybridization.

Deeb G, Baer MR, Gaile DP, Sait SN, Barcos M, Wetzler M, Conroy JM, Nowak NJ, Cowell JK, Cheney RT.

Genes Chromosomes Cancer. 2005 Dec;44(4):373-83.

PMID:
16080198
20.

Automated screening for genomic imbalances using matrix-based comparative genomic hybridization.

Wessendorf S, Fritz B, Wrobel G, Nessling M, Lampel S, Göettel D, Küepper M, Joos S, Hopman T, Kokocinski F, Döhner H, Bentz M, Schwäenen C, Lichter P.

Lab Invest. 2002 Jan;82(1):47-60.

PMID:
11796825

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