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Items: 1 to 50 of 51

1.

Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies.

Wahbi K, Ben Yaou R, Gandjbakhch E, Anselme F, Gossios T, Lakdawala NK, Stalens C, Sacher F, Babuty D, Trochu JN, Moubarak G, Savvatis K, Porcher R, Laforêt P, Fayssoil A, Marijon E, Stojkovic T, Béhin A, Leonard-Louis S, Sole G, Labombarda F, Richard P, Metay C, Quijano-Roy S, Dabaj I, Klug D, Vantyghem MC, Chevalier P, Ambrosi P, Salort E, Sadoul N, Waintraub X, Chikhaoui K, Mabo P, Combes N, Maury P, Sellal JM, Tedrow UB, Kalman JM, Vohra J, Androulakis AFA, Zeppenfeld K, Thompson T, Barnerias C, Bécane HM, Bieth E, Boccara F, Bonnet D, Bouhour F, Boulé S, Brehin AC, Chapon F, Cintas P, Cuisset JM, Davy JM, De Sandre-Giovannoli A, Demurger F, Desguerre I, Dieterich K, Durigneux J, Echaniz-Laguna A, Eschalier R, Ferreiro A, Ferrer X, Francannet C, Fradin M, Gaborit B, Gay A, Hagège A, Isapof A, Jeru I, Juntas Morales R, Lagrue E, Lamblin N, Lascols O, Laugel V, Lazarus A, Leturcq F, Levy N, Magot A, Manel V, Martins R, Mayer M, Mercier S, Meune C, Michaud M, Minot-Myhié MC, Muchir A, Nadaj-Pakleza A, Péréon Y, Petiot P, Petit F, Praline J, Rollin A, Sabouraud P, Sarret C, Schaeffer S, Taithe F, Tard C, Tiffreau V, Toutain A, Vatier C, Walther-Louvier U, Eymard B, Charron P, Vigouroux C, Bonne G, Kumar S, Elliott P, Duboc D.

Circulation. 2019 Jul 23;140(4):293-302. doi: 10.1161/CIRCULATIONAHA.118.039410. Epub 2019 Jun 3.

PMID:
31155932
2.

Identification of a ERCC5 c.2333T>C (L778P) Variant in Two Tunisian Siblings With Mild Xeroderma Pigmentosum Phenotype.

Chikhaoui A, Elouej S, Nabouli I, Jones M, Lagarde A, Ben Rekaya M, Messaoud O, Hamdi Y, Zghal M, Delague V, Levy N, De Sandre-Giovannoli A, Abdelhak S, Yacoub-Youssef H.

Front Genet. 2019 Feb 14;10:111. doi: 10.3389/fgene.2019.00111. eCollection 2019.

3.

Lamin A/C gene (LMNA) mutation associated with laminopathy: A rare cause of idiopathic acro-osteolysis.

Lambert JC, Baudart P, De Sandre-Giovannoli A, Molin A, Marcelli C.

Joint Bone Spine. 2019 Jul;86(4):525-527. doi: 10.1016/j.jbspin.2018.11.008. Epub 2018 Dec 6. No abstract available.

PMID:
30528549
4.

Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome.

Ghedira N, Lagarde A, Ben Ameur K, Elouej S, Sakka R, Kerkeni E, Chioukh FZ, Olschwang S, Desvignes JP, Abdelhak S, Delague V, Lévy N, Monastiri K, De Sandre-Giovannoli A.

BMC Pediatr. 2018 Aug 29;18(1):286. doi: 10.1186/s12887-018-1259-8.

5.

Pathological modelling of pigmentation disorders associated with Hutchinson-Gilford Progeria Syndrome (HGPS) revealed an impaired melanogenesis pathway in iPS-derived melanocytes.

Lo Cicero A, Saidani M, Allouche J, Egesipe AL, Hoch L, Bruge C, Sigaudy S, De Sandre-Giovannoli A, Levy N, Baldeschi C, Nissan X.

Sci Rep. 2018 Jun 14;8(1):9112. doi: 10.1038/s41598-018-27165-y.

6.

MicroRNAs in hereditary and sporadic premature aging syndromes and other laminopathies.

Frankel D, Delecourt V, Harhouri K, De Sandre-Giovannoli A, Lévy N, Kaspi E, Roll P.

Aging Cell. 2018 Aug;17(4):e12766. doi: 10.1111/acel.12766. Epub 2018 Apr 25. Review.

7.

An overview of treatment strategies for Hutchinson-Gilford Progeria syndrome.

Harhouri K, Frankel D, Bartoli C, Roll P, De Sandre-Giovannoli A, Lévy N.

Nucleus. 2018 Jan 1;9(1):246-257. doi: 10.1080/19491034.2018.1460045. Review.

8.

Low lamin A expression in lung adenocarcinoma cells from pleural effusions is a pejorative factor associated with high number of metastatic sites and poor Performance status.

Kaspi E, Frankel D, Guinde J, Perrin S, Laroumagne S, Robaglia-Schlupp A, Ostacolo K, Harhouri K, Tazi-Mezalek R, Micallef J, Dutau H, Tomasini P, De Sandre-Giovannoli A, Lévy N, Cau P, Astoul P, Roll P.

PLoS One. 2017 Aug 14;12(8):e0183136. doi: 10.1371/journal.pone.0183136. eCollection 2017.

9.

MG132-induced progerin clearance is mediated by autophagy activation and splicing regulation.

Harhouri K, Navarro C, Depetris D, Mattei MG, Nissan X, Cau P, De Sandre-Giovannoli A, Lévy N.

EMBO Mol Med. 2017 Sep;9(9):1294-1313. doi: 10.15252/emmm.201607315.

10.

Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL).

Elouej S, Beleza-Meireles A, Caswell R, Colclough K, Ellard S, Desvignes JP, Béroud C, Lévy N, Mohammed S, De Sandre-Giovannoli A.

Metabolism. 2017 Jun;71:213-225. doi: 10.1016/j.metabol.2017.03.011. Epub 2017 Mar 28.

11.

A High Throughput Phenotypic Screening reveals compounds that counteract premature osteogenic differentiation of HGPS iPS-derived mesenchymal stem cells.

Lo Cicero A, Jaskowiak AL, Egesipe AL, Tournois J, Brinon B, Pitrez PR, Ferreira L, de Sandre-Giovannoli A, Levy N, Nissan X.

Sci Rep. 2016 Oct 14;6:34798. doi: 10.1038/srep34798.

12.

Antisense-Based Progerin Downregulation in HGPS-Like Patients' Cells.

Harhouri K, Navarro C, Baquerre C, Da Silva N, Bartoli C, Casey F, Mawuse GK, Doubaj Y, Lévy N, De Sandre-Giovannoli A.

Cells. 2016 Jul 11;5(3). pii: E31. doi: 10.3390/cells5030031.

13.

Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation.

Soria-Valles C, Carrero D, Gabau E, Velasco G, Quesada V, Bárcena C, Moens M, Fieggen K, Möhrcken S, Owens M, Puente DA, Asensio Ó, Loeys B, Pérez A, Benoit V, Wuyts W, Lévy N, Hennekam RC, De Sandre-Giovannoli A, López-Otín C.

J Med Genet. 2016 Nov;53(11):776-785. doi: 10.1136/jmedgenet-2015-103695. Epub 2016 Jun 22.

PMID:
27334370
14.

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.

Int J Cardiol. 2016 Apr 15;209:317-8. doi: 10.1016/j.ijcard.2016.02.113. Epub 2016 Feb 16. No abstract available.

PMID:
26922292
15.

Drug screening on Hutchinson Gilford progeria pluripotent stem cells reveals aminopyrimidines as new modulators of farnesylation.

Blondel S, Egesipe AL, Picardi P, Jaskowiak AL, Notarnicola M, Ragot J, Tournois J, Le Corf A, Brinon B, Poydenot P, Georges P, Navarro C, Pitrez PR, Ferreira L, Bollot G, Bauvais C, Laustriat D, Mejat A, De Sandre-Giovannoli A, Levy N, Bifulco M, Peschanski M, Nissan X.

Cell Death Dis. 2016 Feb 18;7:e2105. doi: 10.1038/cddis.2015.374.

16.

[First Italo-French meeting on laminopathies and other pathologies related to the nuclear envelope].

Yaou RB, De Sandre-Giovannoli A, Leturcq F, Lévy N, Bonne G.

Med Sci (Paris). 2015 Nov;31 Spec No 3:39-40. doi: 10.1051/medsci/201531s311. Epub 2015 Nov 6. French. No abstract available.

17.

Truncated prelamin A expression in HGPS-like patients: a transcriptional study.

Barthélémy F, Navarro C, Fayek R, Da Silva N, Roll P, Sigaudy S, Oshima J, Bonne G, Papadopoulou-Legbelou K, Evangeliou AE, Spilioti M, Lemerrer M, Wevers RA, Morava E, Robaglia-Schlupp A, Lévy N, Bartoli M, De Sandre-Giovannoli A.

Eur J Hum Genet. 2015 Aug;23(8):1051-61. doi: 10.1038/ejhg.2014.239. Epub 2015 Feb 4.

18.

Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome.

Bárcena C, Quesada V, De Sandre-Giovannoli A, Puente DA, Fernández-Toral J, Sigaudy S, Baban A, Lévy N, Velasco G, López-Otín C.

BMC Med Genet. 2014 May 2;15:51. doi: 10.1186/1471-2350-15-51.

19.

A new lamin a mutation associated with acrogeria syndrome.

Hadj-Rabia S, Mashiah J, Roll P, Boyer A, Bourgeois P, Van Kien PK, Lévy N, De Sandre-Giovannoli A, Bodemer C, Navarro C.

J Invest Dermatol. 2014 Aug;134(8):2274-2277. doi: 10.1038/jid.2014.158. Epub 2014 Apr 1. No abstract available.

20.

WITHDRAWN: Nuclear matrix, nuclear envelope and premature aging syndromes in a translational research perspective.

Cau P, Navarro C, Harhouri K, Roll P, Sigaudy S, Kaspi E, Perrin S, De Sandre-Giovannoli A, Lévy N.

Semin Cell Dev Biol. 2014 Mar 28. pii: S1084-9521(14)00058-5. doi: 10.1016/j.semcdb.2014.03.022. [Epub ahead of print]

PMID:
24685615
21.

Nuclear matrix, nuclear envelope and premature aging syndromes in a translational research perspective.

Cau P, Navarro C, Harhouri K, Roll P, Sigaudy S, Kaspi E, Perrin S, De Sandre-Giovannoli A, Lévy N.

Semin Cell Dev Biol. 2014 May;29:125-47. doi: 10.1016/j.semcdb.2014.03.021. Epub 2014 Mar 22. Review.

PMID:
24662892
22.

Induced pluripotent stem cells reveal functional differences between drugs currently investigated in patients with hutchinson-gilford progeria syndrome.

Blondel S, Jaskowiak AL, Egesipe AL, Le Corf A, Navarro C, Cordette V, Martinat C, Laabi Y, Djabali K, de Sandre-Giovannoli A, Levy N, Peschanski M, Nissan X.

Stem Cells Transl Med. 2014 Apr;3(4):510-9. doi: 10.5966/sctm.2013-0168. Epub 2014 Mar 5.

23.

A collodion baby with facial dysmorphism, limb anomalies, pachygyria and genital hypoplasia: a mild form of Neu-laxova syndrome or a new entity?

Ozcan D, Derbent M, Seçkin D, Bikmaz YE, Ağildere M, De Sandre-Giovannoli A, Lévy N, Gürakan B.

Ann Dermatol. 2013 Nov;25(4):483-8. doi: 10.5021/ad.2013.25.4.483. Epub 2013 Nov 30.

24.

New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update.

Navarro CL, Esteves-Vieira V, Courrier S, Boyer A, Duong Nguyen T, Huong le TT, Meinke P, Schröder W, Cormier-Daire V, Sznajer Y, Amor DJ, Lagerstedt K, Biervliet M, van den Akker PC, Cau P, Roll P, Lévy N, Badens C, Wehnert M, De Sandre-Giovannoli A.

Eur J Hum Genet. 2014 Aug;22(8):1002-11. doi: 10.1038/ejhg.2013.258. Epub 2013 Oct 30.

25.

Acro-osteolysis, keloid like-lesions, distinctive facial features, and overgrowth: two newly recognized patients with premature aging syndrome, Penttinen type.

Zufferey F, Hadj-Rabia S, De Sandre-Giovannoli A, Dufier JL, Leheup B, Schweitze C, Bodemer C, Cormier-Daire V, Le Merrer M.

Am J Med Genet A. 2013 Jul;161A(7):1786-91. doi: 10.1002/ajmg.a.35984. Epub 2013 May 29.

PMID:
23720404
26.

An inherited LMNA gene mutation in atypical Progeria syndrome.

Doubaj Y, De Sandre-Giovannoli A, Vera EV, Navarro CL, Elalaoui SC, Tajir M, Lévy N, Sefiani A.

Am J Med Genet A. 2012 Nov;158A(11):2881-7. doi: 10.1002/ajmg.a.35557. Epub 2012 Sep 18.

PMID:
22991222
27.

Unique preservation of neural cells in Hutchinson- Gilford progeria syndrome is due to the expression of the neural-specific miR-9 microRNA.

Nissan X, Blondel S, Navarro C, Maury Y, Denis C, Girard M, Martinat C, De Sandre-Giovannoli A, Levy N, Peschanski M.

Cell Rep. 2012 Jul 26;2(1):1-9. doi: 10.1016/j.celrep.2012.05.015. Epub 2012 Jun 21.

28.

Splicing-directed therapy in a new mouse model of human accelerated aging.

Osorio FG, Navarro CL, Cadiñanos J, López-Mejía IC, Quirós PM, Bartoli C, Rivera J, Tazi J, Guzmán G, Varela I, Depetris D, de Carlos F, Cobo J, Andrés V, De Sandre-Giovannoli A, Freije JM, Lévy N, López-Otín C.

Sci Transl Med. 2011 Oct 26;3(106):106ra107. doi: 10.1126/scitranslmed.3002847.

29.

A conserved splicing mechanism of the LMNA gene controls premature aging.

Lopez-Mejia IC, Vautrot V, De Toledo M, Behm-Ansmant I, Bourgeois CF, Navarro CL, Osorio FG, Freije JM, Stévenin J, De Sandre-Giovannoli A, Lopez-Otin C, Lévy N, Branlant C, Tazi J.

Hum Mol Genet. 2011 Dec 1;20(23):4540-55. doi: 10.1093/hmg/ddr385. Epub 2011 Aug 29.

PMID:
21875900
30.

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.

Eur J Med Genet. 2011 May-Jun;54(3):310-3. doi: 10.1016/j.ejmg.2011.01.005. Epub 2011 Jan 27.

PMID:
21276880
31.

Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation.

Ben Yaou R, Navarro C, Quijano-Roy S, Bertrand AT, Massart C, De Sandre-Giovannoli A, Cadiñanos J, Mamchaoui K, Butler-Browne G, Estournet B, Richard P, Barois A, Lévy N, Bonne G.

Eur J Hum Genet. 2011 Jun;19(6):647-54. doi: 10.1038/ejhg.2010.256. Epub 2011 Jan 26.

32.

Restrictive dermopathy in a Turkish newborn.

Yesil G, Hatipoglu L, Esteves-Vieira V, Levy N, De Sandre-Giovannoli A, Tüysüz B.

Pediatr Dermatol. 2011 Jul-Aug;28(4):408-11. doi: 10.1111/j.1525-1470.2010.01296.x. Epub 2010 Dec 2.

PMID:
21121943
33.

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.

J Med Genet. 2010 Jun;47(6):361-70. doi: 10.1136/jmg.2009.071696.

PMID:
20522425
34.

Novel frameshifting mutations of the ZMPSTE24 gene in two siblings affected with restrictive dermopathy and review of the mutations described in the literature.

Smigiel R, Jakubiak A, Esteves-Vieira V, Szela K, Halon A, Jurek T, Lévy N, De Sandre-Giovannoli A.

Am J Med Genet A. 2010 Feb;152A(2):447-52. doi: 10.1002/ajmg.a.33221.

PMID:
20101687
35.

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.

Genet Test Mol Biomarkers. 2009 Oct;13(5):635-9. doi: 10.1089/gtmb.2009.0021.

PMID:
19645629
36.

Novel LMNA mutation in atypical Werner syndrome presenting with ischemic disease.

Renard D, Fourcade G, Milhaud D, Bessis D, Esteves-Vieira V, Boyer A, Roll P, Bourgeois P, Levy N, De Sandre-Giovannoli A.

Stroke. 2009 Feb;40(2):e11-4. doi: 10.1161/STROKEAHA.108.531780. Epub 2008 Dec 18.

PMID:
19095983
37.

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.

38.

HGPS and related premature aging disorders: from genomic identification to the first therapeutic approaches.

Pereira S, Bourgeois P, Navarro C, Esteves-Vieira V, Cau P, De Sandre-Giovannoli A, Lévy N.

Mech Ageing Dev. 2008 Jul-Aug;129(7-8):449-59. doi: 10.1016/j.mad.2008.04.003. Epub 2008 Apr 12. Review.

PMID:
18513784
39.

An association of Hutchinson-Gilford progeria and malignancy.

Shalev SA, De Sandre-Giovannoli A, Shani AA, Levy N.

Am J Med Genet A. 2007 Aug 15;143A(16):1821-6.

PMID:
17618517
40.

Altered splicing in prelamin A-associated premature aging phenotypes.

De Sandre-Giovannoli A, Lévy N.

Prog Mol Subcell Biol. 2006;44:199-232. Review.

PMID:
17076270
41.

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

Bernard R, De Sandre-Giovannoli A, Delague V, Lévy N.

Neuromolecular Med. 2006;8(1-2):87-106. Review.

PMID:
16775369
42.

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.

J Med Genet. 2006 May;43(5):401-5. Epub 2006 Jan 27.

43.

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
44.

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.

45.

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.

46.

Tight skin and limited joint movements as early presentation of Hutchinson-Gilford progeria in a 7-week-old infant.

Sevenants L, Wouters C, De Sandre-Giovannoli A, Devlieger H, Devriendt K, van den Oord JJ, Marien K, Lévy N, Morren MA.

Eur J Pediatr. 2005 May;164(5):283-6. Epub 2005 Feb 22.

PMID:
15726408
47.

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
48.

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.

49.

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.

50.

The phenotypic manifestations of autosomal recessive axonal Charcot-Marie-Tooth due to a mutation in Lamin A/C gene.

Chaouch M, Allal Y, De Sandre-Giovannoli A, Vallat JM, Amer-el-Khedoud A, Kassouri N, Chaouch A, Sindou P, Hammadouche T, Tazir M, Lévy N, Grid D.

Neuromuscul Disord. 2003 Jan;13(1):60-7.

PMID:
12467734

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