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Items: 1 to 20 of 95

1.

Mapping translocation breakpoints by next-generation sequencing.

Chen W, Kalscheuer V, Tzschach A, Menzel C, Ullmann R, Schulz MH, Erdogan F, Li N, Kijas Z, Arkesteijn G, Pajares IL, Goetz-Sothmann M, Heinrich U, Rost I, Dufke A, Grasshoff U, Glaeser B, Vingron M, Ropers HH.

Genome Res. 2008 Jul;18(7):1143-9. doi: 10.1101/gr.076166.108. Epub 2008 Mar 7.

2.

Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing.

Chen W, Ullmann R, Langnick C, Menzel C, Wotschofsky Z, Hu H, Döring A, Hu Y, Kang H, Tzschach A, Hoeltzenbein M, Neitzel H, Markus S, Wiedersberg E, Kistner G, van Ravenswaaij-Arts CM, Kleefstra T, Kalscheuer VM, Ropers HH.

Eur J Hum Genet. 2010 May;18(5):539-43. doi: 10.1038/ejhg.2009.211. Epub 2009 Dec 2.

3.

Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations.

Schluth-Bolard C, Labalme A, Cordier MP, Till M, Nadeau G, Tevissen H, Lesca G, Boutry-Kryza N, Rossignol S, Rocas D, Dubruc E, Edery P, Sanlaville D.

J Med Genet. 2013 Mar;50(3):144-50. doi: 10.1136/jmedgenet-2012-101351. Epub 2013 Jan 12.

PMID:
23315544
5.

Chromosomal breakpoint mapping by arrayCGH using flow-sorted chromosomes.

Veltman IM, Veltman JA, Arkesteijn G, Janssen IM, Vissers LE, de Jong PJ, van Kessel AG, Schoenmakers EF.

Biotechniques. 2003 Nov;35(5):1066-70.

PMID:
14628681
6.

Molecular cloning of Xp11 breakpoints in two unrelated mentally retarded females with X;autosome translocations.

Nothwang HG, Schröer A, van der Maarel S, Kübart S, Schneider S, Riesselmann L, Menzel C, Hinzmann B, Vogt D, Rosenthal A, Fryns J, Tommerup N, Haaf T, Ropers HH, Wirth J.

Cytogenet Cell Genet. 2000;90(1-2):126-33.

PMID:
11060462
7.

The position of t(11;22)(q23;q11) constitutional translocation breakpoint is conserved among its carriers.

Tapia-Páez I, Kost-Alimova M, Hu P, Roe BA, Blennow E, Fedorova L, Imreh S, Dumanski JP.

Hum Genet. 2001 Aug;109(2):167-77.

PMID:
11511922
8.

Gene mapping by microdissection and enzymatic amplification: heterogeneity in leukaemia associated breakpoints on chromosome 11.

Cotter FE, Lillington D, Hampton G, Riddle P, Nasipuri S, Gibbons B, Young BD.

Genes Chromosomes Cancer. 1991 Jan;3(1):8-15.

PMID:
2069910
9.

Characterization of complex chromosomal rearrangements by targeted capture and next-generation sequencing.

Sobreira NL, Gnanakkan V, Walsh M, Marosy B, Wohler E, Thomas G, Hoover-Fong JE, Hamosh A, Wheelan SJ, Valle D.

Genome Res. 2011 Oct;21(10):1720-7. doi: 10.1101/gr.122986.111. Epub 2011 Sep 2.

10.

Characterization of a highly complex region in Xq13 and mapping of three isodicentric breakpoints associated with preleukemia.

McDonell N, Ramser J, Francis F, Vinet MC, Rider S, Sudbrak R, Riesselman L, Yaspo ML, Reinhardt R, Monaco AP, Ross F, Kahn A, Kearney L, Buckle V, Chelly J.

Genomics. 2000 Mar 15;64(3):221-9.

PMID:
10756090
11.

Recurrent rearrangements in the proximal 15q11-q14 region: a new breakpoint cluster specific to unbalanced translocations.

Mignon-Ravix C, Depetris D, Luciani JJ, Cuoco C, Krajewska-Walasek M, Missirian C, Collignon P, Delobel B, Croquette MF, Moncla A, Kroisel PM, Mattei MG.

Eur J Hum Genet. 2007 Apr;15(4):432-40. Epub 2007 Jan 31.

12.

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.

13.
14.

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
15.
16.

Mapping of the X-breakpoint involved in a balanced X;12 translocation in a female with mild mental retardation.

Bienvenu T, Der-Sarkissian H, Billuart P, Tissot M, Des Portes V, Brüls T, Chabrolle JP, Chauveau P, Cherry M, Kahn A, Cohen D, Beldjord C, Chelly J, Cherif D.

Eur J Hum Genet. 1997 Mar-Apr;5(2):105-9.

PMID:
9195162
17.

Frequent translocations occur between low copy repeats on chromosome 22q11.2 (LCR22s) and telomeric bands of partner chromosomes.

Spiteri E, Babcock M, Kashork CD, Wakui K, Gogineni S, Lewis DA, Williams KM, Minoshima S, Sasaki T, Shimizu N, Potocki L, Pulijaal V, Shanske A, Shaffer LG, Morrow BE.

Hum Mol Genet. 2003 Aug 1;12(15):1823-37.

PMID:
12874103
18.

Molecular analysis of a constitutional complex genome rearrangement with 11 breakpoints involving chromosomes 3, 11, 12, and 21 and a approximately 0.5-Mb submicroscopic deletion in a patient with mild mental retardation.

Borg K, Stankiewicz P, Bocian E, Kruczek A, Obersztyn E, Lupski JR, Mazurczak T.

Hum Genet. 2005 Nov;118(2):267-75. Epub 2005 Nov 15. Erratum in: Hum Genet. 2006 Jan;118(5):668.

PMID:
16160854
19.

A novel sequence-based approach to localize translocation breakpoints identifies the molecular basis of a t(4;22).

Nimmakayalu MA, Gotter AL, Shaikh TH, Emanuel BS.

Hum Mol Genet. 2003 Nov 1;12(21):2817-25. Epub 2003 Sep 2.

PMID:
12952865
20.

A common breakpoint on 11q23 in carriers of the constitutional t(11;22) translocation.

Edelmann L, Spiteri E, McCain N, Goldberg R, Pandita RK, Duong S, Fox J, Blumenthal D, Lalani SR, Shaffer LG, Morrow BE.

Am J Hum Genet. 1999 Dec;65(6):1608-16.

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