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Items: 1 to 20 of 117

1.

Elucidation of the complex structure and origin of the human trypsinogen locus triplication.

Chauvin A, Chen JM, Quemener S, Masson E, Kehrer-Sawatzki H, Ohmle B, Cooper DN, Le Maréchal C, Férec C.

Hum Mol Genet. 2009 Oct 1;18(19):3605-14. doi: 10.1093/hmg/ddp308. Epub 2009 Jul 7.

PMID:
19584086
2.

Copy number variations in chronic pancreatitis.

Chen JM, Masson E, Le Maréchal C, Férec C.

Cytogenet Genome Res. 2008;123(1-4):102-7. doi: 10.1159/000184697. Epub 2009 Mar 11. Review.

PMID:
19287144
3.

Hereditary pancreatitis caused by triplication of the trypsinogen locus.

Le Maréchal C, Masson E, Chen JM, Morel F, Ruszniewski P, Levy P, Férec C.

Nat Genet. 2006 Dec;38(12):1372-4. Epub 2006 Oct 29.

PMID:
17072318
4.

Trypsinogen copy number mutations in patients with idiopathic chronic pancreatitis.

Masson E, Le Maréchal C, Chandak GR, Lamoril J, Bezieau S, Mahurkar S, Bhaskar S, Reddy DN, Chen JM, Férec C.

Clin Gastroenterol Hepatol. 2008 Jan;6(1):82-8. Epub 2007 Dec 11. Erratum in: Clin Gastroenterol Hepatol. 2013 Jun;11(6):749.

PMID:
18063422
5.

Dissecting the structure and mechanism of a complex duplication-triplication rearrangement in the DMD gene.

Ishmukhametova A, Chen JM, Bernard R, de Massy B, Baudat F, Boyer A, Méchin D, Thorel D, Chabrol B, Vincent MC, Khau Van Kien P, Claustres M, Tuffery-Giraud S.

Hum Mutat. 2013 Aug;34(8):1080-4. doi: 10.1002/humu.22353. Epub 2013 Jun 3.

PMID:
23649991
6.
7.

Double complex mutations involving F8 and FUNDC2 caused by distinct break-induced replication.

Sheen CR, Jewell UR, Morris CM, Brennan SO, Férec C, George PM, Smith MP, Chen JM.

Hum Mutat. 2007 Dec;28(12):1198-206.

PMID:
17683067
8.

Copy number variations in the NF1 gene region are infrequent and do not predispose to recurrent type-1 deletions.

Steinmann K, Kluwe L, Cooper DN, Brems H, De Raedt T, Legius E, Mautner VF, Kehrer-Sawatzki H.

Eur J Hum Genet. 2008 May;16(5):572-80. doi: 10.1038/sj.ejhg.5202002. Epub 2008 Jan 23.

9.

Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture.

Vissers LE, Bhatt SS, Janssen IM, Xia Z, Lalani SR, Pfundt R, Derwinska K, de Vries BB, Gilissen C, Hoischen A, Nesteruk M, Wisniowiecka-Kowalnik B, Smyk M, Brunner HG, Cheung SW, van Kessel AG, Veltman JA, Stankiewicz P.

Hum Mol Genet. 2009 Oct 1;18(19):3579-93. doi: 10.1093/hmg/ddp306. Epub 2009 Jul 3.

PMID:
19578123
10.

Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion.

Cuscó I, Corominas R, Bayés M, Flores R, Rivera-Brugués N, Campuzano V, Pérez-Jurado LA.

Genome Res. 2008 May;18(5):683-94. doi: 10.1101/gr.073197.107. Epub 2008 Feb 21.

11.

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.

12.

Intrachromosomal serial replication slippage in trans gives rise to diverse genomic rearrangements involving inversions.

Chen JM, Chuzhanova N, Stenson PD, Férec C, Cooper DN.

Hum Mutat. 2005 Oct;26(4):362-73.

PMID:
16110485
13.

Partial duplication of the APBA2 gene in chromosome 15q13 corresponds to duplicon structures.

Sutcliffe JS, Han MK, Amin T, Kesterson RA, Nurmi EL.

BMC Genomics. 2003 Apr 29;4(1):15. Epub 2003 Apr 29.

14.
15.

Analysis of meiotic recombination in 22q11.2, a region that frequently undergoes deletions and duplications.

Torres-Juan L, Rosell J, Sánchez-de-la-Torre M, Fibla J, Heine-Suñer D.

BMC Med Genet. 2007 Apr 2;8:14.

16.

Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.

Liu P, Erez A, Nagamani SC, Bi W, Carvalho CM, Simmons AD, Wiszniewska J, Fang P, Eng PA, Cooper ML, Sutton VR, Roeder ER, Bodensteiner JB, Delgado MR, Prakash SK, Belmont JW, Stankiewicz P, Berg JS, Shinawi M, Patel A, Cheung SW, Lupski JR.

Hum Mol Genet. 2011 May 15;20(10):1975-88. doi: 10.1093/hmg/ddr078. Epub 2011 Feb 25.

17.

Sotos syndrome common deletion is mediated by directly oriented subunits within inverted Sos-REP low-copy repeats.

Kurotaki N, Stankiewicz P, Wakui K, Niikawa N, Lupski JR.

Hum Mol Genet. 2005 Feb 15;14(4):535-42. Epub 2005 Jan 7.

PMID:
15640245
18.

A novel A121T mutation in human cationic trypsinogen associated with hereditary pancreatitis: functional data indicating a loss-of-function mutation influencing the R122 trypsin cleavage site.

Felderbauer P, Schnekenburger J, Lebert R, Bulut K, Parry M, Meister T, Schick V, Schmitz F, Domschke W, Schmidt WE.

J Med Genet. 2008 Aug;45(8):507-12. doi: 10.1136/jmg.2007.056481. Epub 2008 May 29.

PMID:
18511571
19.

Mitotic stability of a coding DNA sequence-free version of Leishmania major chromosome 1 generated by targeted chromosome fragmentation.

Dubessay P, Ravel C, Bastien P, Stuart K, Dedet JP, Blaineau C, Pagès M.

Gene. 2002 May 1;289(1-2):151-9.

PMID:
12036593
20.

Allele diversity and germline mutation at the insulin minisatellite.

Stead JD, Jeffreys AJ.

Hum Mol Genet. 2000 Mar 22;9(5):713-23.

PMID:
10749978

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