[Bardet-Biedl syndrome: a unique family for a majo...[Med Sci (Paris). 2006]

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1: Med Sci (Paris). 2006 Nov;22(11):901-4. Links

[Bardet-Biedl syndrome: a unique family for a major gene (BBS10)]

[Article in French]

Dollfus H, Muller J, Stoetzel C, Laurier V, Bonneau D, Mégarbané A, Poch O, Mandel JL.

Laboratoire de génétique médicale EA3949, Faculté de Médecine, Université Louis Pasteur, Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre, avenue Molière, 67098 Strasbourg Cedex, France. Helene.Dollfus@chru-strasbourg.fr

PMID: 17101080 [PubMed - indexed for MEDLINE]

Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.
Eur J Hum Genet. 2006 Nov; 14(11):1195-203. Epub 2006 Jul 5.

[Eur J Hum Genet. 2006]
Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10.
Eur J Hum Genet. 2007 Feb; 15(2):173-8. Epub 2006 Nov 15.

[Eur J Hum Genet. 2007]
Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome.
Am J Hum Genet. 2007 Jan; 80(1):1-11. Epub 2006 Nov 15.

[Am J Hum Genet. 2007]
ReviewThe molecular genetics of Bardet-Biedl syndrome.
Curr Opin Genet Dev. 2001 Jun; 11(3):317-21.

[Curr Opin Genet Dev. 2001]
ReviewTwo new genes have been identified for the obesity disorder Bardet-Biedl syndrome.
Clin Genet. 2001 Sep; 60(3):176-7.

[Clin Genet. 2001]
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