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Items 1 - 20 of 289
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1:

Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian population.

Ebermann I, Lopez I, Bitner-Glindzicz M, Brown C, Koenekoop RK, Bolz HJ.

Genome Biol. 2007;8(4):R47.

PMID: 17407589 [PubMed - indexed for MEDLINE]

2:

USH1C: a rare cause of USH1 in a non-Acadian population and a founder effect of the Acadian allele.

Ouyang XM, Hejtmancik JF, Jacobson SG, Xia XJ, Li A, Du LL, Newton V, Kaiser M, Balkany T, Nance WE, Liu XZ.

Clin Genet. 2003 Feb;63(2):150-3.

PMID: 12630964 [PubMed - indexed for MEDLINE]

3:

An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians.

Ebermann I, Koenekoop RK, Lopez I, Bou-Khzam L, Pigeon R, Bolz HJ.

Eur J Hum Genet. 2008 Jul 30. [Epub ahead of print]

PMID: 18665195 [PubMed - as supplied by publisher]

4:

Haplotype analysis suggest common founders in carriers of the recurrent BRCA2 mutation, 3398delAAAAG, in French Canadian hereditary breast and/ovarian cancer families.

Oros KK, Leblanc G, Arcand SL, Shen Z, Perret C, Mes-Masson AM, Foulkes WD, Ghadirian P, Provencher D, Tonin PN.

BMC Med Genet. 2006 Mar 15;7:23.

PMID: 16539696 [PubMed - indexed for MEDLINE]

5:

The USH1C 216G-->A mutation and the 9-repeat VNTR(t,t) allele are in complete linkage disequilibrium in the Acadian population.

Savas S, Frischhertz B, Pelias MZ, Batzer MA, Deininger PL, Keats BB.

Hum Genet. 2002 Jan;110(1):95-7. Epub 2001 Dec 6.

PMID: 11810303 [PubMed - indexed for MEDLINE]

6:

Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%.

Roux AF, Faugère V, Le Guédard S, Pallares-Ruiz N, Vielle A, Chambert S, Marlin S, Hamel C, Gilbert B, Malcolm S, Claustres M; French Usher Syndrome Collaboration.

J Med Genet. 2006 Sep;43(9):763-8. Epub 2006 May 5.

PMID: 16679490 [PubMed - indexed for MEDLINE]

8:

Molecular and genealogical characterization of the R1443X BRCA1 mutation in high-risk French-Canadian breast/ovarian cancer families.

Vézina H, Durocher F, Dumont M, Houde L, Szabo C, Tranchant M, Chiquette J, Plante M, Laframboise R, Lépine J, Nevanlinna H, Stoppa-Lyonnet D, Goldgar D, Bridge P, Simard J.

Hum Genet. 2005 Jul;117(2-3):119-32. Epub 2005 May 10.

PMID: 15883839 [PubMed - indexed for MEDLINE]

9:

Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.

Ouyang XM, Yan D, Du LL, Hejtmancik JF, Jacobson SG, Nance WE, Li AR, Angeli S, Kaiser M, Newton V, Brown SD, Balkany T, Liu XZ.

Hum Genet. 2005 Mar;116(4):292-9. Epub 2005 Jan 20.

PMID: 15660226 [PubMed - indexed for MEDLINE]

10:

Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease.

Reiners J, Nagel-Wolfrum K, Jürgens K, Märker T, Wolfrum U.

Exp Eye Res. 2006 Jul;83(1):97-119. Epub 2006 Mar 20. Review.

PMID: 16545802 [PubMed - indexed for MEDLINE]

11:

Cochlear implantation in individuals with Usher type 1 syndrome.

Liu XZ, Angeli SI, Rajput K, Yan D, Hodges AV, Eshraghi A, Telischi FF, Balkany TJ.

Int J Pediatr Otorhinolaryngol. 2008 Jun;72(6):841-7. Epub 2008 Apr 18.

PMID: 18395802 [PubMed - indexed for MEDLINE]

12:

Evidence of a founder effect for the protein C gene 3363 inserted C mutation in thrombophilic pedigrees of French origin.

Couture P, Bovill EG, Demers C, Simard J, Delage R, Scott BT, Valliere JE, Callas PW, Jomphe M, Rosendaal FR, Aiach M, Long GL.

Thromb Haemost. 2001 Oct;86(4):1000-6.

PMID: 11686315 [PubMed - indexed for MEDLINE]

13:

Two families from New England with usher syndrome type IC with distinct haplotypes.

DeAngelis MM, McGee TL, Keats BJ, Slim R, Berson EL, Dryja TP.

Am J Ophthalmol. 2001 Mar;131(3):355-8.

PMID: 11239869 [PubMed - indexed for MEDLINE]

14:

Anatomy of a founder effect: myotonic dystrophy in Northeastern Quebec.

Yotova V, Labuda D, Zietkiewicz E, Gehl D, Lovell A, Lefebvre JF, Bourgeois S, Lemieux-Blanchard E, Labuda M, Vézina H, Houde L, Tremblay M, Toupance B, Heyer E, Hudson TJ, Laberge C.

Hum Genet. 2005 Jul;117(2-3):177-87. Epub 2005 May 10.

PMID: 15883838 [PubMed - indexed for MEDLINE]

15:

Identification of a novel truncating PALB2 mutation and analysis of its contribution to early-onset breast cancer in French-Canadian women.

Foulkes WD, Ghadirian P, Akbari MR, Hamel N, Giroux S, Sabbaghian N, Darnel A, Royer R, Poll A, Fafard E, Robidoux A, Martin G, Bismar TA, Tischkowitz M, Rousseau F, Narod SA.

Breast Cancer Res. 2007;9(6):R83.

PMID: 18053174 [PubMed - indexed for MEDLINE]

16:

Assessment of French patients with LPL deficiency for French Canadian mutations.

Foubert L, De Gennes JL, Lagarde JP, Ehrenborg E, Raisonnier A, Girardet JP, Hayden MR, Benlian P.

J Med Genet. 1997 Aug;34(8):672-5.

PMID: 9279761 [PubMed - indexed for MEDLINE]

17:

Identification of three novel mutations in the USH1C gene and detection of thirty-one polymorphisms used for haplotype analysis.

Zwaenepoel I, Verpy E, Blanchard S, Meins M, Apfelstedt-Sylla E, Gal A, Petit C.

Hum Mutat. 2001;17(1):34-41.

PMID: 11139240 [PubMed - indexed for MEDLINE]

18:

Ubiquitin-associated domain mutations of SQSTM1 in Paget's disease of bone: evidence for a founder effect in patients of British descent.

Lucas GJ, Hocking LJ, Daroszewska A, Cundy T, Nicholson GC, Walsh JP, Fraser WD, Meier C, Hooper MJ, Ralston SH.

J Bone Miner Res. 2005 Feb;20(2):227-31. Epub 2004 Nov 16.

PMID: 15647816 [PubMed - indexed for MEDLINE]

19:

Population history and its impact on medical genetics in Quebec.

Laberge AM, Michaud J, Richter A, Lemyre E, Lambert M, Brais B, Mitchell GA.

Clin Genet. 2005 Oct;68(4):287-301. Review.

PMID: 16143014 [PubMed - indexed for MEDLINE]

20:

Cystic fibrosis mutations in North American populations of French ancestry: analysis of Quebec French-Canadian and Louisiana Acadian families.

Rozen R, Schwartz RH, Hilman BC, Stanislovitis P, Horn GT, Klinger K, Daigneault J, De Braekeleer M, Kerem B, Tsui L, et al.

Am J Hum Genet. 1990 Oct;47(4):606-10.

PMID: 2220803 [PubMed - indexed for MEDLINE]

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