Levy N - Search Results

1

Allelic variations at the haploid TBX1 locus do not influence the cardiac phenotype in cases of 22q11 microdeletion.

Voelckel MA, Girardot L, Giusiano B, Levy N, Philip N. Voelckel MA, et al. Among authors: levy n. Ann Genet. 2004 Jul-Sep;47(3):235-40. doi: 10.1016/j.anngen.2004.04.002. Ann Genet. 2004. PMID: 15337468

2

Prenatal detection of the 17p11.2 duplication in Charcot-Marie-Tooth disease type 1A: necessity of a multidisciplinary approach for heterogeneous disorders.

Bernard R, Boyer A, Nègre P, Malzac P, Latour P, Vandenberghe A, Philip N, Lévy N. Bernard R, et al. Among authors: levy n. Eur J Hum Genet. 2002 May;10(5):297-302. doi: 10.1038/sj.ejhg.5200804. Eur J Hum Genet. 2002. PMID: 12082504

3

A novel overlapping phenotype characterized by lipodystrophy, mandibular dysplasia, and dilated cardiomyopathy associated with a new mutation in the LMNA gene.

Ambrosi P, Kreitmann B, Lepidi H, Habib G, Levy N, Philip N, De Sandre-Giovannoli A. Ambrosi P, et al. Among authors: levy n. Int J Cardiol. 2016 Apr 15;209:317-8. doi: 10.1016/j.ijcard.2016.02.113. Epub 2016 Feb 16. Int J Cardiol. 2016. PMID: 26922292 No abstract available.

4

Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome.

Badens C, Lacoste C, Philip N, Martini N, Courrier S, Giuliano F, Verloes A, Munnich A, Leheup B, Burglen L, Odent S, Van Esch H, Levy N. Badens C, et al. Among authors: levy n. Clin Genet. 2006 Jul;70(1):57-62. doi: 10.1111/j.1399-0004.2006.00641.x. Clin Genet. 2006. PMID: 16813605

5

Prenatal detection of a 17p11.2 duplication resulting from a rare recombination event and novel PCR-based strategy for molecular identification of Charcot-Marie-Tooth disease type 1A.

Bernard R, Labelle V, Negre P, Tardieu S, Azulay JP, Malzac P, Mattéi JF, Leguern E, Philip N, Lévy N. Bernard R, et al. Among authors: levy n. Eur J Hum Genet. 2000 Mar;8(3):229-35. doi: 10.1038/sj.ejhg.5200433. Eur J Hum Genet. 2000. PMID: 10780790

6

Extension of the phenotypic spectrum of GLE1-related disorders to a mild congenital form resembling congenital myopathy.

Cerino M, Di Meglio C, Albertini F, Audic F, Riccardi F, Boulay C, Philip N, Bartoli M, Lévy N, Krahn M, Chabrol B. Cerino M, et al. Among authors: levy n. Mol Genet Genomic Med. 2020 Aug;8(8):e1277. doi: 10.1002/mgg3.1277. Epub 2020 Jun 14. Mol Genet Genomic Med. 2020. PMID: 32537934 Free PMC article.

7

Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders.

Grelet M, Blanck V, Sigaudy S, Philip N, Giuliano F, Khachnaoui K, Morel G, Grotto S, Sophie J, Poirsier C, Lespinasse J, Alric L, Calvas P, Chalhoub G, Layet V, Molin A, Colson C, Marsili L, Edery P, Lévy N, De Sandre-Giovannoli A. Grelet M, et al. Among authors: levy n. Orphanet J Rare Dis. 2019 Dec 11;14(1):288. doi: 10.1186/s13023-019-1189-z. Orphanet J Rare Dis. 2019. PMID: 31829210 Free PMC article.

8

Novel Exon-Skipping Therapeutic Approach for the DMD Gene Based on Asymptomatic Deletions of Exon 49.

Abaji M, Gorokhova S, Da Silva N, Busa T, Grelet M, Missirian C, Sigaudy S, Philip N, Leturcq F, Lévy N, Krahn M, Bartoli M. Abaji M, et al. Among authors: levy n. Genes (Basel). 2022 Jul 19;13(7):1277. doi: 10.3390/genes13071277. Genes (Basel). 2022. PMID: 35886062 Free PMC article.

9

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. Aubourg P, et al. Among authors: levy n. J Med Genet. 2005 Mar;42(3):253-9. doi: 10.1136/jmg.2004.021899. J Med Genet. 2005. PMID: 15744040 Free PMC article. No abstract available.

10

Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.

Kerr B, Delrue MA, Sigaudy S, Perveen R, Marche M, Burgelin I, Stef M, Tang B, Eden OB, O'Sullivan J, De Sandre-Giovannoli A, Reardon W, Brewer C, Bennett C, Quarell O, M'Cann E, Donnai D, Stewart F, Hennekam R, Cavé H, Verloes A, Philip N, Lacombe D, Levy N, Arveiler B, Black G. Kerr B, et al. Among authors: levy n. J Med Genet. 2006 May;43(5):401-5. doi: 10.1136/jmg.2005.040352. Epub 2006 Jan 27. J Med Genet. 2006. PMID: 16443854 Free PMC article.

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