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Items: 14

1.

Founder effect and estimation of the age of the c.892C>T (p.Arg298Cys) mutation in LMNA associated to Charcot-Marie-Tooth subtype CMT2B1 in families from North Western Africa.

Hamadouche T, Poitelon Y, Genin E, Chaouch M, Tazir M, Kassouri N, Nouioua S, Chaouch A, Boccaccio I, Benhassine T, De Sandre-Giovannoli A, Grid D, Lévy N, Delague V.

Ann Hum Genet. 2008 Sep;72(Pt 5):590-7. doi: 10.1111/j.1469-1809.2008.00456.x. Epub 2008 Jun 6.

2.

Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H.

Delague V, Jacquier A, Hamadouche T, Poitelon Y, Baudot C, Boccaccio I, Chouery E, Chaouch M, Kassouri N, Jabbour R, Grid D, Mégarbané A, Haase G, Lévy N.

Am J Hum Genet. 2007 Jul;81(1):1-16. Epub 2007 May 15.

3.

Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors.

Navarro CL, Cadiñanos J, De Sandre-Giovannoli A, Bernard R, Courrier S, Boccaccio I, Boyer A, Kleijer WJ, Wagner A, Giuliano F, Beemer FA, Freije JM, Cau P, Hennekam RC, López-Otín C, Badens C, Lévy N.

Hum Mol Genet. 2005 Jun 1;14(11):1503-13. Epub 2005 Apr 20.

PMID:
15843403
4.

Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11.

De Sandre-Giovannoli A, Delague V, Hamadouche T, Chaouch M, Krahn M, Boccaccio I, Maisonobe T, Chouery E, Jabbour R, Atweh S, Grid D, Mégarbané A, Lévy N.

J Med Genet. 2005 Mar;42(3):260-5. No abstract available.

5.

Assignment of a new congenital fibrosis of extraocular muscles type 3 (CFEOM3) locus, FEOM4, based on a balanced translocation t(2;13) (q37.3;q12.11) and identification of candidate genes.

Aubourg P, Krahn M, Bernard R, Nguyen K, Forzano O, Boccaccio I, Delague V, De Sandre-Giovannoli A, Pouget J, Depétris D, Mattei MG, Philip N, Lévy N.

J Med Genet. 2005 Mar;42(3):253-9. No abstract available.

6.

Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy.

Navarro CL, De Sandre-Giovannoli A, Bernard R, Boccaccio I, Boyer A, Geneviève D, Hadj-Rabia S, Gaudy-Marqueste C, Smitt HS, Vabres P, Faivre L, Verloes A, Van Essen T, Flori E, Hennekam R, Beemer FA, Laurent N, Le Merrer M, Cau P, Lévy N.

Hum Mol Genet. 2004 Oct 15;13(20):2493-503. Epub 2004 Aug 18.

PMID:
15317753
7.

Phenotypic and genetic exploration of severe demyelinating and secondary axonal neuropathies resulting from GDAP1 nonsense and splicing mutations.

De Sandre-Giovannoli A, Chaouch M, Boccaccio I, Bernard R, Delague V, Grid D, Vallat JM, Lévy N, Mégarbané A.

J Med Genet. 2003 Jul;40(7):e87. No abstract available.

8.

Lamin a truncation in Hutchinson-Gilford progeria.

De Sandre-Giovannoli A, Bernard R, Cau P, Navarro C, Amiel J, Boccaccio I, Lyonnet S, Stewart CL, Munnich A, Le Merrer M, Lévy N.

Science. 2003 Jun 27;300(5628):2055. Epub 2003 Apr 17. No abstract available.

9.

The H89 cAMP-dependent protein kinase inhibitor blocks Plasmodium falciparum development in infected erythrocytes.

Syin C, Parzy D, Traincard F, Boccaccio I, Joshi MB, Lin DT, Yang XM, Assemat K, Doerig C, Langsley G.

Eur J Biochem. 2001 Sep;268(18):4842-9.

10.

Disruption of the mouse Necdin gene results in hypothalamic and behavioral alterations reminiscent of the human Prader-Willi syndrome.

Muscatelli F, Abrous DN, Massacrier A, Boccaccio I, Le Moal M, Cau P, Cremer H.

Hum Mol Genet. 2000 Dec 12;9(20):3101-10.

PMID:
11115855
11.

The human MAGEL2 gene and its mouse homologue are paternally expressed and mapped to the Prader-Willi region.

Boccaccio I, Glatt-Deeley H, Watrin F, Roëckel N, Lalande M, Muscatelli F.

Hum Mol Genet. 1999 Dec;8(13):2497-505.

PMID:
10556298
12.

An atypical mitogen-activated protein kinase (MAPK) homologue expressed in gametocytes of the human malaria parasite Plasmodium falciparum. Identification of a MAPK signature.

Dorin D, Alano P, Boccaccio I, Cicéron L, Doerig C, Sulpice R, Parzy D, Doerig C.

J Biol Chem. 1999 Oct 15;274(42):29912-20.

13.

Unexpected inheritance of the (CGG)n trinucleotide expansion in a fragile X syndrome family.

Malzac P, Biancalana V, Voelckel MA, Moncla A, Pellissier MC, Boccaccio I, Mattei JF.

Eur J Hum Genet. 1996;4(1):8-12.

PMID:
8800930
14.

Fragile X syndrome in an extended family with special reference to an affected male with Klinefelter syndrome.

Voelckel MA, Pellissier MC, Piquet C, N'Guyen C, Boccaccio I, Philip N, Mattei JF.

Am J Med Genet. 1991 Feb-Mar;38(2-3):374-7.

PMID:
1673314

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