Molinari F - 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. Science. 2002 Nov 29;298(5599):1779-81. doi: 10.1126/science.1076521. Science. 2002. PMID: 12459588

2

Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation.

Rio M, Molinari F, Heuertz S, Ozilou C, Gosset P, Raoul O, Cormier-Daire V, Amiel J, Lyonnet S, Le Merrer M, Turleau C, de Blois MC, Prieur M, Romana S, Vekemans M, Munnich A, Colleaux L. Rio M, et al. Among authors: molinari f. J Med Genet. 2002 Apr;39(4):266-70. doi: 10.1136/jmg.39.4.266. J Med Genet. 2002. PMID: 11950856 Free PMC article.

3

Fluorescence genotyping for screening cryptic telomeric rearrangements.

Colleaux L, Heuertz S, Molinari F, Rio M. Colleaux L, et al. Among authors: molinari f. Methods Mol Biol. 2002;204:181-9. doi: 10.1385/1-59259-300-3:181. Methods Mol Biol. 2002. PMID: 12397798 No abstract available.

4

Cryptic terminal deletion of chromosome 9q34: a novel cause of syndromic obesity in childhood?

Cormier-Daire V, Molinari F, Rio M, Raoul O, de Blois MC, Romana S, Vekemans M, Munnich A, Colleaux L. Cormier-Daire V, et al. Among authors: molinari f. J Med Genet. 2003 Apr;40(4):300-3. doi: 10.1136/jmg.40.4.300. J Med Genet. 2003. PMID: 12676904 Free PMC article. No abstract available.

5

[Neurotrypsin mutations and mental retardation].

Molinari F, Rio M, Munnich A, Colleaux L. Molinari F, et al. Med Sci (Paris). 2003 May;19(5):525-7. doi: 10.1051/medsci/2003195525. Med Sci (Paris). 2003. PMID: 12836380 Free article. French. No abstract available.

6

Extracellular proteases and their inhibitors in genetic diseases of the central nervous system.

Molinari F, Meskanaite V, Munnich A, Sonderegger P, Colleaux L. Molinari F, et al. Hum Mol Genet. 2003 Oct 15;12 Spec No 2:R195-200. doi: 10.1093/hmg/ddg276. Epub 2003 Aug 12. Hum Mol Genet. 2003. PMID: 12925575 Free article. Review.

7

[Diagnostic approach in patients with severe and syndromic mental retardation].

Rio M, Colleaux L, Sanlaville D, Borck G, Molinari F, Munnich A. Rio M, et al. Among authors: molinari f. Arch Pediatr. 2004 Jun;11(6):566-8. doi: 10.1016/j.arcped.2004.03.061. Arch Pediatr. 2004. PMID: 15158836 French. No abstract available.

8

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: molinari f. Clin Genet. 2004 Aug;66(2):122-7. doi: 10.1111/j.1399-0004.2004.00288.x. Clin Genet. 2004. PMID: 15253762

9

Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy.

Molinari F, Raas-Rothschild A, Rio M, Fiermonte G, Encha-Razavi F, Palmieri L, Palmieri F, Ben-Neriah Z, Kadhom N, Vekemans M, Attie-Bitach T, Munnich A, Rustin P, Colleaux L. Molinari F, et al. Am J Hum Genet. 2005 Feb;76(2):334-9. doi: 10.1086/427564. Epub 2004 Dec 8. Am J Hum Genet. 2005. PMID: 15592994 Free PMC article.

10

Tequila, a neurotrypsin ortholog, regulates long-term memory formation in Drosophila.

Didelot G, Molinari F, Tchénio P, Comas D, Milhiet E, Munnich A, Colleaux L, Preat T. Didelot G, et al. Among authors: molinari f. Science. 2006 Aug 11;313(5788):851-3. doi: 10.1126/science.1127215. Science. 2006. PMID: 16902143

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