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Items: 1 to 20 of 98

1.
2.

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. 2009 Jan;17(1):80-4. doi: 10.1038/ejhg.2008.143. Epub 2008 Jul 30.

3.

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
4.

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
5.

Novel mutations of MYO7A and USH1G in Israeli Arab families with Usher syndrome type 1.

Rizel L, Safieh C, Shalev SA, Mezer E, Jabaly-Habib H, Ben-Neriah Z, Chervinsky E, Briscoe D, Ben-Yosef T.

Mol Vis. 2011;17:3548-55. Epub 2011 Dec 30.

6.

Novel mutations in the USH1C gene in Usher syndrome patients.

Aparisi MJ, García-García G, Jaijo T, Rodrigo R, Graziano C, Seri M, Simsek T, Simsek E, Bernal S, Baiget M, Pérez-Garrigues H, Aller E, Millán JM.

Mol Vis. 2010 Dec 31;16:2948-54.

7.

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.

9.

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.

10.

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
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. doi: 10.1016/j.ijporl.2008.02.013. Epub 2008 Apr 18.

PMID:
18395802
12.

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
13.

The contribution of founder mutations to early-onset breast cancer in French-Canadian women.

Ghadirian P, Robidoux A, Zhang P, Royer R, Akbari M, Zhang S, Fafard E, Costa M, Martin G, Potvin C, Patocskai E, Larouche N, Younan R, Nassif E, Giroux S, Narod SA, Rousseau F, Foulkes WD.

Clin Genet. 2009 Nov;76(5):421-6. doi: 10.1111/j.1399-0004.2009.01277.x.

PMID:
19863560
14.

Characterization of a novel founder MSH6 mutation causing Lynch syndrome in the French Canadian population.

Castellsagué E, Liu J, Volenik A, Giroux S, Gagné R, Maranda B, Roussel-Jobin A, Latreille J, Laframboise R, Palma L, Kasprzak L, Marcus VA, Breguet M, Nolet S, El-Haffaf Z, Australie K, Gologan A, Aleynikova O, Oros-Klein K, Greenwood C, Mes-Masson AM, Provencher D, Tischkowitz M, Chong G, Rousseau F, Foulkes WD.

Clin Genet. 2015 Jun;87(6):536-42. doi: 10.1111/cge.12526. Epub 2014 Nov 22.

PMID:
25318681
15.

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
16.

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
17.

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
18.

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.

19.

Haplotype analysis of TP53 polymorphisms, Arg72Pro and Ins16, in BRCA1 and BRCA2 mutation carriers of French Canadian descent.

Cavallone L, Arcand SL, Maugard C, Ghadirian P, Mes-Masson AM, Provencher D, Tonin PN.

BMC Cancer. 2008 Apr 10;8:96. doi: 10.1186/1471-2407-8-96.

20.

Genetic heterogeneity in regional populations of Quebec--parental lineages in the Gaspe Peninsula.

Moreau C, Vézina H, Yotova V, Hamon R, de Knijff P, Sinnett D, Labuda D.

Am J Phys Anthropol. 2009 Aug;139(4):512-22. doi: 10.1002/ajpa.21012.

PMID:
19226649

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