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Items: 1 to 20 of 171

1.

Improved structural characterization of chromosomal breakpoints using high resolution custom array-CGH.

Lindstrand A, Schoumans J, Gustavsson P, Hanemaaijer N, Malmgren H, Blennow E.

Clin Genet. 2010 Jun;77(6):552-62. doi: 10.1111/j.1399-0004.2009.01341.x. Epub 2010 Mar 4.

PMID:
20236111
2.

Analysis of chromosome breakpoints in neuroblastoma at sub-kilobase resolution using fine-tiling oligonucleotide array CGH.

Selzer RR, Richmond TA, Pofahl NJ, Green RD, Eis PS, Nair P, Brothman AR, Stallings RL.

Genes Chromosomes Cancer. 2005 Nov;44(3):305-19.

PMID:
16075461
3.

Rapid high-resolution mapping of balanced chromosomal rearrangements on tiling CGH arrays.

Greisman HA, Hoffman NG, Yi HS.

J Mol Diagn. 2011 Nov;13(6):621-33. doi: 10.1016/j.jmoldx.2011.07.005. Epub 2011 Sep 9.

4.

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
5.

Fine-tiling array CGH to improve diagnostics for α- and β-thalassemia rearrangements.

Phylipsen M, Chaibunruang A, Vogelaar IP, Balak JR, Schaap RA, Ariyurek Y, Fucharoen S, den Dunnen JT, Giordano PC, Bakker E, Harteveld CL.

Hum Mutat. 2012 Jan;33(1):272-80. doi: 10.1002/humu.21612. Epub 2011 Oct 31.

PMID:
21922597
6.

Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: array CGH study of 47 unrelated cases.

Schluth-Bolard C, Delobel B, Sanlaville D, Boute O, Cuisset JM, Sukno S, Labalme A, Duban-Bedu B, Plessis G, Jaillard S, Dubourg C, Henry C, Lucas J, Odent S, Pasquier L, Copin H, Latour P, Cordier MP, Nadeau G, Till M, Edery P, Andrieux J.

Eur J Med Genet. 2009 Sep-Oct;52(5):291-6. doi: 10.1016/j.ejmg.2009.05.011. Epub 2009 Jun 6.

PMID:
19505601
7.

Cytogenetic, FISH and array-CGH characterization of a complex chromosomal rearrangement carried by a mentally and language impaired patient.

Ballarati L, Recalcati MP, Bedeschi MF, Lalatta F, Valtorta C, Bellini M, Finelli P, Larizza L, Giardino D.

Eur J Med Genet. 2009 Jul-Aug;52(4):218-23. doi: 10.1016/j.ejmg.2009.02.004. Epub 2009 Feb 21.

PMID:
19236961
8.

Detection and precise mapping of germline rearrangements in BRCA1, BRCA2, MSH2, and MLH1 using zoom-in array comparative genomic hybridization (aCGH).

Staaf J, Törngren T, Rambech E, Johansson U, Persson C, Sellberg G, Tellhed L, Nilbert M, Borg A.

Hum Mutat. 2008 Apr;29(4):555-64. doi: 10.1002/humu.20678.

PMID:
18330910
9.

Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort.

Baptista J, Mercer C, Prigmore E, Gribble SM, Carter NP, Maloney V, Thomas NS, Jacobs PA, Crolla JA.

Am J Hum Genet. 2008 Apr;82(4):927-36. doi: 10.1016/j.ajhg.2008.02.012. Epub 2008 Mar 27.

10.

Molecular cytogenetic analyses of breakpoints in apparently balanced reciprocal translocations carried by phenotypically normal individuals.

Baptista J, Prigmore E, Gribble SM, Jacobs PA, Carter NP, Crolla JA.

Eur J Hum Genet. 2005 Nov;13(11):1205-12.

11.

The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes.

Gribble SM, Prigmore E, Burford DC, Porter KM, Ng BL, Douglas EJ, Fiegler H, Carr P, Kalaitzopoulos D, Clegg S, Sandstrom R, Temple IK, Youings SA, Thomas NS, Dennis NR, Jacobs PA, Crolla JA, Carter NP.

J Med Genet. 2005 Jan;42(1):8-16.

12.

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
13.

High-resolution mapping of DNA copy alterations in human chromosome 22 using high-density tiling oligonucleotide arrays.

Urban AE, Korbel JO, Selzer R, Richmond T, Hacker A, Popescu GV, Cubells JF, Green R, Emanuel BS, Gerstein MB, Weissman SM, Snyder M.

Proc Natl Acad Sci U S A. 2006 Mar 21;103(12):4534-9. Epub 2006 Mar 14.

14.

Genomic alterations in myeloid neoplasms with novel, apparently balanced translocations.

Poitras JL, Costa D, Kluk MJ, Amrein PC, Stone RM, Lee C, Dal Cin P, Morton CC.

Cancer Genet. 2011 Feb;204(2):68-76. doi: 10.1016/j.cancergen.2010.12.005.

PMID:
21504705
15.

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
16.

Delineation of a 1Mb breakpoint region at 1p13 in Wilms tumors by fine-tiling oligonucleotide array CGH.

Natrajan R, Williams RD, Grigoriadis A, Mackay A, Fenwick K, Ashworth A, Dome JS, Grundy PE, Pritchard-Jones K, Jones C.

Genes Chromosomes Cancer. 2007 Jun;46(6):607-15.

PMID:
17370329
17.

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.

18.

Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH).

Schoumans J, Ruivenkamp C, Holmberg E, Kyllerman M, Anderlid BM, Nordenskjöld M.

J Med Genet. 2005 Sep;42(9):699-705.

19.

Cryptic genomic imbalances in patients with de novo or familial apparently balanced translocations and abnormal phenotype.

Sismani C, Kitsiou-Tzeli S, Ioannides M, Christodoulou C, Anastasiadou V, Stylianidou G, Papadopoulou E, Kanavakis E, Kosmaidou-Aravidou Z, Patsalis PC.

Mol Cytogenet. 2008 Jul 21;1:15. doi: 10.1186/1755-8166-1-15.

20.

Array analysis and karyotyping: workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands.

Hochstenbach R, van Binsbergen E, Engelen J, Nieuwint A, Polstra A, Poddighe P, Ruivenkamp C, Sikkema-Raddatz B, Smeets D, Poot M.

Eur J Med Genet. 2009 Jul-Aug;52(4):161-9. doi: 10.1016/j.ejmg.2009.03.015. Epub 2009 Apr 9.

PMID:
19362174
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