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Items: 1 to 20 of 106

1.

Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome.

Yatsenko SA, Brundage EK, Roney EK, Cheung SW, Chinault AC, Lupski JR.

Hum Mol Genet. 2009 Jun 1;18(11):1924-36. doi: 10.1093/hmg/ddp114. Epub 2009 Mar 17.

2.

Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements.

Luo Y, Hermetz KE, Jackson JM, Mulle JG, Dodd A, Tsuchiya KD, Ballif BC, Shaffer LG, Cody JD, Ledbetter DH, Martin CL, Rudd MK.

Hum Mol Genet. 2011 Oct 1;20(19):3769-78. doi: 10.1093/hmg/ddr293. Epub 2011 Jul 4.

4.

Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage-fusion-bridge for telomere stabilization.

Yatsenko SA, Hixson P, Roney EK, Scott DA, Schaaf CP, Ng YT, Palmer R, Fisher RB, Patel A, Cheung SW, Lupski JR.

Hum Genet. 2012 Dec;131(12):1895-910. doi: 10.1007/s00439-012-1216-9. Epub 2012 Aug 14.

5.

Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome.

Bonaglia MC, Giorda R, Beri S, De Agostini C, Novara F, Fichera M, Grillo L, Galesi O, Vetro A, Ciccone R, Bonati MT, Giglio S, Guerrini R, Osimani S, Marelli S, Zucca C, Grasso R, Borgatti R, Mani E, Motta C, Molteni M, Romano C, Greco D, Reitano S, Baroncini A, Lapi E, Cecconi A, Arrigo G, Patricelli MG, Pantaleoni C, D'Arrigo S, Riva D, Sciacca F, Dalla Bernardina B, Zoccante L, Darra F, Termine C, Maserati E, Bigoni S, Priolo E, Bottani A, Gimelli S, Bena F, Brusco A, di Gregorio E, Bagnasco I, Giussani U, Nitsch L, Politi P, Martinez-Frias ML, Martínez-Fernández ML, Martínez Guardia N, Bremer A, Anderlid BM, Zuffardi O.

PLoS Genet. 2011 Jul;7(7):e1002173. doi: 10.1371/journal.pgen.1002173. Epub 2011 Jul 14.

6.

Characterization of a complex rearrangement with interstitial deletions and inversion on human chromosome 1.

Gajecka M, Glotzbach CD, Shaffer LG.

Chromosome Res. 2006;14(3):277-82. Epub 2006 Apr 20.

PMID:
16628498
7.

Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage-fusion-bridge cycles are involved in generating terminal deletions.

Ballif BC, Yu W, Shaw CA, Kashork CD, Shaffer LG.

Hum Mol Genet. 2003 Sep 1;12(17):2153-65. Epub 2003 Jul 15.

PMID:
12915474
8.

Chromosome instability as a result of double-strand breaks near telomeres in mouse embryonic stem cells.

Lo AW, Sprung CN, Fouladi B, Pedram M, Sabatier L, Ricoul M, Reynolds GE, Murnane JP.

Mol Cell Biol. 2002 Jul;22(13):4836-50.

9.

Further delineation of nonhomologous-based recombination and evidence for subtelomeric segmental duplications in 1p36 rearrangements.

D'Angelo CS, Gajecka M, Kim CA, Gentles AJ, Glotzbach CD, Shaffer LG, Koiffmann CP.

Hum Genet. 2009 Jun;125(5-6):551-63. doi: 10.1007/s00439-009-0650-9. Epub 2009 Mar 7.

PMID:
19271239
10.

Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination.

Woodward KJ, Cundall M, Sperle K, Sistermans EA, Ross M, Howell G, Gribble SM, Burford DC, Carter NP, Hobson DL, Garbern JY, Kamholz J, Heng H, Hodes ME, Malcolm S, Hobson GM.

Am J Hum Genet. 2005 Dec;77(6):966-87. Epub 2005 Oct 19.

11.

Molecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo-telomere formation.

Chabchoub E, Rodríguez L, Galán E, Mansilla E, Martínez-Fernandez ML, Martínez-Frías ML, Fryns JP, Vermeesch JR.

J Med Genet. 2007 Apr;44(4):250-6. Epub 2006 Dec 15.

12.

Identification of complex genomic breakpoint junctions in the t(9;11) MLL-AF9 fusion gene in acute leukemia.

Super HG, Strissel PL, Sobulo OM, Burian D, Reshmi SC, Roe B, Zeleznik-Le NJ, Diaz MO, Rowley JD.

Genes Chromosomes Cancer. 1997 Oct;20(2):185-95.

PMID:
9331569
13.

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.

PMID:
18257100
14.

Different molecular mechanisms causing 9p21 deletions in acute lymphoblastic leukemia of childhood.

Novara F, Beri S, Bernardo ME, Bellazzi R, Malovini A, Ciccone R, Cometa AM, Locatelli F, Giorda R, Zuffardi O.

Hum Genet. 2009 Oct;126(4):511-20. doi: 10.1007/s00439-009-0689-7. Epub 2009 May 30.

15.

Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions.

Willemsen MH, Beunders G, Callaghan M, de Leeuw N, Nillesen WM, Yntema HG, van Hagen JM, Nieuwint AW, Morrison N, Keijzers-Vloet ST, Hoischen A, Brunner HG, Tolmie J, Kleefstra T.

Clin Genet. 2011 Jul;80(1):31-8. doi: 10.1111/j.1399-0004.2010.01607.x. Epub 2011 Jan 10.

PMID:
21204793
16.

Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype.

Kleefstra T, van Zelst-Stams WA, Nillesen WM, Cormier-Daire V, Houge G, Foulds N, van Dooren M, Willemsen MH, Pfundt R, Turner A, Wilson M, McGaughran J, Rauch A, Zenker M, Adam MP, Innes M, Davies C, López AG, Casalone R, Weber A, Brueton LA, Navarro AD, Bralo MP, Venselaar H, Stegmann SP, Yntema HG, van Bokhoven H, Brunner HG.

J Med Genet. 2009 Sep;46(9):598-606. doi: 10.1136/jmg.2008.062950. Epub 2009 Mar 4.

PMID:
19264732
17.
18.

[Subtelomeric deletion 9qter: definition of the syndrome and parental origin in 2 patients].

Roselló M, Monfort S, Orellana C, Oltra S, Martínez Garay I, Martínez F.

Med Clin (Barc). 2007 Mar 24;128(11):419-21. Spanish.

PMID:
17394858
19.

Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.

Gu S, Yuan B, Campbell IM, Beck CR, Carvalho CM, Nagamani SC, Erez A, Patel A, Bacino CA, Shaw CA, Stankiewicz P, Cheung SW, Bi W, Lupski JR.

Hum Mol Genet. 2015 Jul 15;24(14):4061-77. doi: 10.1093/hmg/ddv146. Epub 2015 Apr 23.

20.

Subtelomeric rearrangements in Polish subjects with intellectual disability and dysmorphic features.

Bogdanowicz J, Pawłowska B, Ilnicka A, Gawlik-Zawiślak S, Jóźwiak A, Sobiczewska B, Zdzienicka E, Korniszewski L, Zaremba J.

J Appl Genet. 2010;51(2):215-7. doi: 10.1007/BF03195731.

PMID:
20453310

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