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Items: 1 to 20 of 453


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.


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.


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.


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.


Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome.

Sharp AJ, Hansen S, Selzer RR, Cheng Z, Regan R, Hurst JA, Stewart H, Price SM, Blair E, Hennekam RC, Fitzpatrick CA, Segraves R, Richmond TA, Guiver C, Albertson DG, Pinkel D, Eis PS, Schwartz S, Knight SJ, Eichler EE.

Nat Genet. 2006 Sep;38(9):1038-42. Epub 2006 Aug 13.


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.


Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease.

Lee JA, Inoue K, Cheung SW, Shaw CA, Stankiewicz P, Lupski JR.

Hum Mol Genet. 2006 Jul 15;15(14):2250-65. Epub 2006 Jun 14.


BAC microarray analysis of 15q11-q13 rearrangements and the impact of segmental duplications.

Locke DP, Segraves R, Nicholls RD, Schwartz S, Pinkel D, Albertson DG, Eichler EE.

J Med Genet. 2004 Mar;41(3):175-82.


Detection of known and novel genomic rearrangements by array based comparative genomic hybridisation: deletion of ZNF533 and duplication of CHARGE syndrome genes.

Monfort S, Roselló M, Orellana C, Oltra S, Blesa D, Kok K, Ferrer I, Cigudosa JC, Martínez F.

J Med Genet. 2008 Jul;45(7):432-7. doi: 10.1136/jmg.2008.057596. Epub 2008 Apr 15.


Array comparative genomic hybridisation analysis of boys with X linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3.

Solomon NM, Ross SA, Morgan T, Belsky JL, Hol FA, Karnes PS, Hopwood NJ, Myers SE, Tan AS, Warne GL, Forrest SM, Thomas PQ.

J Med Genet. 2004 Sep;41(9):669-78.


CGHPRO -- a comprehensive data analysis tool for array CGH.

Chen W, Erdogan F, Ropers HH, Lenzner S, Ullmann R.

BMC Bioinformatics. 2005 Apr 5;6:85.


Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH).

Maas NM, Van Buggenhout G, Hannes F, Thienpont B, Sanlaville D, Kok K, Midro A, Andrieux J, Anderlid BM, Schoumans J, Hordijk R, Devriendt K, Fryns JP, Vermeesch JR.

J Med Genet. 2008 Feb;45(2):71-80. Epub 2007 Sep 14.


Genomic signatures of chromosomal instability and osteosarcoma progression detected by high resolution array CGH and interphase FISH.

Selvarajah S, Yoshimoto M, Ludkovski O, Park PC, Bayani J, Thorner P, Maire G, Squire JA, Zielenska M.

Cytogenet Genome Res. 2008;122(1):5-15. doi: 10.1159/000151310. Epub 2008 Oct 14.


Recurrent 10q22-q23 deletions: a genomic disorder on 10q associated with cognitive and behavioral abnormalities.

Balciuniene J, Feng N, Iyadurai K, Hirsch B, Charnas L, Bill BR, Easterday MC, Staaf J, Oseth L, Czapansky-Beilman D, Avramopoulos D, Thomas GH, Borg A, Valle D, Schimmenti LA, Selleck SB.

Am J Hum Genet. 2007 May;80(5):938-47. Epub 2007 Mar 20.


17p11.2p12 triplication and del(17)q11.2q12 in a severely affected child with dup(17)p11.2p12 syndrome.

Girirajan S, Williams S, Garbern J, Nowak N, Hatchwell E, Elsea S.

Clin Genet. 2007 Jul;72(1):47-58.


Fine-mapping subtelomeric deletions and duplications by comparative genomic hybridization in 42 individuals.

DeScipio C, Spinner NB, Kaur M, Yaeger D, Conlin LK, Ambrosini A, Hu S, Shan S, Krantz ID, Riethman H.

Am J Med Genet A. 2008 Mar 15;146A(6):730-9. doi: 10.1002/ajmg.a.32216.


Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions.

Yu W, Ballif BC, Kashork CD, Heilstedt HA, Howard LA, Cai WW, White LD, Liu W, Beaudet AL, Bejjani BA, Shaw CA, Shaffer LG.

Hum Mol Genet. 2003 Sep 1;12(17):2145-52. Epub 2003 Jul 15.


Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion.

Potocki L, Chen KS, Park SS, Osterholm DE, Withers MA, Kimonis V, Summers AM, Meschino WS, Anyane-Yeboa K, Kashork CD, Shaffer LG, Lupski JR.

Nat Genet. 2000 Jan;24(1):84-7.


Trisomy 17p10-p12 due to mosaic supernumerary marker chromosome: delineation of molecular breakpoints and clinical phenotype, and comparison to other proximal 17p segmental duplications.

Yatsenko SA, Treadwell-Deering D, Krull K, Lewis RA, Glaze D, Stankiewicz P, Lupski JR, Potocki L.

Am J Med Genet A. 2005 Oct 1;138A(2):175-80. Review.


Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse.

Bi W, Yan J, Stankiewicz P, Park SS, Walz K, Boerkoel CF, Potocki L, Shaffer LG, Devriendt K, Nowaczyk MJ, Inoue K, Lupski JR.

Genome Res. 2002 May;12(5):713-28.

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