Bacq D - Search Results

1

Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation.

Molinari F, Rio M, Meskenaite V, Encha-Razavi F, Augé J, Bacq D, Briault S, Vekemans M, Munnich A, Attié-Bitach T, Sonderegger P, Colleaux L. Molinari F, et al. Among authors: bacq d. Science. 2002 Nov 29;298(5599):1779-81. doi: 10.1126/science.1076521. Science. 2002. PMID: 12459588

2

Genome-wide screening using automated fluorescent genotyping to detect cryptic cytogenetic abnormalities in children with idiopathic syndromic mental retardation.

Borck G, Rio M, Sanlaville D, Redon R, Molinari F, Bacq D, Raoul O, Cormier-Daire V, Lyonnet S, Amiel J, Le Merrer M, de Blois MC, Prieur M, Vekemans M, Carter NP, Munnich A, Colleaux L. Borck G, et al. Among authors: bacq d. Clin Genet. 2004 Aug;66(2):122-7. doi: 10.1111/j.1399-0004.2004.00288.x. Clin Genet. 2004. PMID: 15253762

3

Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3.

Faivre L, Le Merrer M, Al-Gazali LI, Ausems MG, Bitoun P, Bacq D, Maroteaux P, Munnich A, Cormier-Daire V. Faivre L, et al. Among authors: bacq d. J Med Genet. 2003 Apr;40(4):282-4. doi: 10.1136/jmg.40.4.282. J Med Genet. 2003. PMID: 12676900 Free PMC article.

4

Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders.

Mollet J, Giurgea I, Schlemmer D, Dallner G, Chretien D, Delahodde A, Bacq D, de Lonlay P, Munnich A, Rötig A. Mollet J, et al. Among authors: bacq d. J Clin Invest. 2007 Mar;117(3):765-72. doi: 10.1172/JCI29089. J Clin Invest. 2007. PMID: 17332895 Free PMC article.

5

Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2.

Faivre L, Mégarbané A, Alswaid A, Zylberberg L, Aldohayan N, Campos-Xavier B, Bacq D, Legeai-Mallet L, Bonaventure J, Munnich A, Cormier-Daire V. Faivre L, et al. Among authors: bacq d. Hum Genet. 2002 Apr;110(4):366-70. doi: 10.1007/s00439-002-0689-3. Epub 2002 Mar 13. Hum Genet. 2002. PMID: 11941487

6

The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin.

Mollet G, Salomon R, Gribouval O, Silbermann F, Bacq D, Landthaler G, Milford D, Nayir A, Rizzoni G, Antignac C, Saunier S. Mollet G, et al. Among authors: bacq d. Nat Genet. 2002 Oct;32(2):300-5. doi: 10.1038/ng996. Epub 2002 Sep 9. Nat Genet. 2002. PMID: 12244321

7

Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3).

Feldmann J, Callebaut I, Raposo G, Certain S, Bacq D, Dumont C, Lambert N, Ouachée-Chardin M, Chedeville G, Tamary H, Minard-Colin V, Vilmer E, Blanche S, Le Deist F, Fischer A, de Saint Basile G. Feldmann J, et al. Among authors: bacq d. Cell. 2003 Nov 14;115(4):461-73. doi: 10.1016/s0092-8674(03)00855-9. Cell. 2003. PMID: 14622600 Free article.

8

Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families.

Elleuch N, Bouslam N, Hanein S, Lossos A, Hamri A, Klebe S, Meiner V, Birouk N, Lerer I, Grid D, Bacq D, Tazir M, Zelenika D, Argov Z, Durr A, Yahyaoui M, Benomar A, Brice A, Stevanin G. Elleuch N, et al. Among authors: bacq d. Neurogenetics. 2007 Nov;8(4):307-15. doi: 10.1007/s10048-007-0097-x. Epub 2007 Jul 28. Neurogenetics. 2007. PMID: 17661097

9

A novel primary immunodeficiency with specific natural-killer cell deficiency maps to the centromeric region of chromosome 8.

Eidenschenk C, Dunne J, Jouanguy E, Fourlinnie C, Gineau L, Bacq D, McMahon C, Smith O, Casanova JL, Abel L, Feighery C. Eidenschenk C, et al. Among authors: bacq d. Am J Hum Genet. 2006 Apr;78(4):721-7. doi: 10.1086/503269. Epub 2006 Feb 17. Am J Hum Genet. 2006. PMID: 16532402 Free PMC article.

10

Comprehensive linkage and association analyses identify haplotype, near to the TNFSF15 gene, significantly associated with spondyloarthritis.

Zinovieva E, Bourgain C, Kadi A, Letourneur F, Izac B, Said-Nahal R, Lebrun N, Cagnard N, Vigier A, Jacques S, Miceli-Richard C, Garchon HJ, Heath S, Charon C, Bacq D, Boland A, Zelenika D, Chiocchia G, Breban M. Zinovieva E, et al. Among authors: bacq d. PLoS Genet. 2009 Jun;5(6):e1000528. doi: 10.1371/journal.pgen.1000528. Epub 2009 Jun 19. PLoS Genet. 2009. PMID: 19543369 Free PMC article.

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