De Sandre-Giovannoli A - Search Results

1

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. 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.

2

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. Navarro CL, et al. Hum Mol Genet. 2005 Jun 1;14(11):1503-13. doi: 10.1093/hmg/ddi159. Epub 2005 Apr 20. Hum Mol Genet. 2005. PMID: 15843403

3

Molecular genetics of autosomal-recessive axonal Charcot-Marie-Tooth neuropathies.

Bernard R, De Sandre-Giovannoli A, Delague V, Lévy N. Bernard R, et al. Neuromolecular Med. 2006;8(1-2):87-106. doi: 10.1385/nmm:8:1-2:87. Neuromolecular Med. 2006. PMID: 16775369 Review.

4

Altered splicing in prelamin A-associated premature aging phenotypes.

De Sandre-Giovannoli A, Lévy N. De Sandre-Giovannoli A, et al. Prog Mol Subcell Biol. 2006;44:199-232. doi: 10.1007/978-3-540-34449-0_9. Prog Mol Subcell Biol. 2006. PMID: 17076270 Review.

5

An association of Hutchinson-Gilford progeria and malignancy.

Shalev SA, De Sandre-Giovannoli A, Shani AA, Levy N. Shalev SA, et al. Am J Med Genet A. 2007 Aug 15;143A(16):1821-6. doi: 10.1002/ajmg.a.31803. Am J Med Genet A. 2007. PMID: 17618517

6

Pereira S, Bourgeois P, Navarro C, Esteves-Vieira V, Cau P, De Sandre-Giovannoli A, Lévy N. Pereira S, et al. Mech Ageing Dev. 2008 Jul-Aug;129(7-8):449-59. doi: 10.1016/j.mad.2008.04.003. Epub 2008 Apr 12. Mech Ageing Dev. 2008. PMID: 18513784 Review.

7

LMNA, ZMPSTE24, and LBR are not mutated in scleroderma.

Gaudy-Marqueste C, Boyer A, Navarro C, Rouzier C, Harley JR, Weiller PJ, Grob JJ, Levy N, De Sandre-Giovannoli A. Gaudy-Marqueste C, et al. Genet Test Mol Biomarkers. 2009 Oct;13(5):635-9. doi: 10.1089/gtmb.2009.0021. Genet Test Mol Biomarkers. 2009. PMID: 19645629

8

LBR mutation and nuclear envelope defects in a patient affected with Reynolds syndrome.

Gaudy-Marqueste C, Roll P, Esteves-Vieira V, Weiller PJ, Grob JJ, Cau P, Lévy N, De Sandre-Giovannoli A. Gaudy-Marqueste C, et al. J Med Genet. 2010 Jun;47(6):361-70. doi: 10.1136/jmg.2009.071696. J Med Genet. 2010. PMID: 20522425

9

Restrictive dermopathy in a Turkish newborn.

Yesil G, Hatipoglu L, Esteves-Vieira V, Levy N, De Sandre-Giovannoli A, Tüysüz B. Yesil G, et al. Pediatr Dermatol. 2011 Jul-Aug;28(4):408-11. doi: 10.1111/j.1525-1470.2010.01296.x. Epub 2010 Dec 2. Pediatr Dermatol. 2011. PMID: 21121943

10

A 10 Mb duplication in chromosome band 5q31.3-5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis.

Faguer S, De Sandre-Giovannoli A, Hemery M, Lévy N, Lamant L, Arveiler B, Rooryck C, Prouheze C, Vigouroux A, Chauveau D, Calvas P, Chassaing N. Faguer S, et al. Eur J Med Genet. 2011 May-Jun;54(3):310-3. doi: 10.1016/j.ejmg.2011.01.005. Epub 2011 Jan 27. Eur J Med Genet. 2011. PMID: 21276880

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