AELIP

Asociación AELIP

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Publicaciones

2013-2009 publicaciones del equipo: 

1.Perrin S, Cremer J, Faucher O, et al. Correction: HIV Protease Inhibitors Do Not Cause the Accumulation of Prelamin A in PBMCs from Patients Receiving First Line Therapy: The ANRS EP45 "Aging" Study. PLoS One 2013;8.

2. Ozcan D, Derbent M, Seckin D, et al. A collodion baby with facial dysmorphism, limb anomalies, pachygyria and genital hypoplasia: a mild form of Neu-laxova syndrome or a new entity? Ann Dermatol 2013;25:483-8.

3.Navarro CL, Esteves-Vieira V, Courrier S, et al. New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update. Eur J Hum Genet 2013.

4. Perrin S, Cremer J, Roll P, et al. HIV-1 infection and first line ART induced differential responses in mitochondria from blood lymphocytes and monocytes: the ANRS EP45 "Aging" study. PLoS One 2012;7:e41129.

5. Perrin S, Cremer J, Faucher O, et al. HIV protease inhibitors do not cause the accumulation of prelamin A in PBMCs from patients receiving first line therapy: the ANRS EP45 "aging" study. PLoS One 2012;7:e53035.

6. Nissan X, Blondel S, Navarro C, et al. Unique preservation of neural cells in Hutchinson- Gilford progeria syndrome is due to the expression of the neural-specific miR-9 microRNA. Cell Rep 2012;2:1-9.

7.Kichine E, Roze V, Di Cristofaro J, et al. HSFY genes and the P4 palindrome in the AZFb interval of the human Y chromosome are not required for spermatocyte maturation. Hum Reprod 2012;27:615-24.

8. Fabre A, Charroux B, Martinez-Vinson C, et al. SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome. Am J Hum Genet 2012;90:689-92.

9. Doubaj Y, De Sandre-Giovannoli A, Vera EV, et al. An inherited LMNA gene mutation in atypical Progeria syndrome. Am J Med Genet A 2012;158A:2881-7.

10. Yesil G, Hatipoglu L, Esteves-Vieira V, Levy N, De Sandre-Giovannoli A, Tuysuz B. Restrictive dermopathy in a Turkish newborn. Pediatr Dermatol 2011;28:408-11.

11. Osorio FG, Navarro CL, Cadinanos J, et al. Splicing-directed therapy in a new mouse model of human accelerated aging. Sci Transl Med 2011;3:106ra7.

12. Merono F, Agouti I, Bonello-Palot N, Paolasso C, Levy N, Badens C. Analytical evaluation of the Tosoh HLC-723 G8 automated HPLC analyzer for hemoglobin analysis in beta-thalassemia mode. Clin Biochem 2011;44:441-3.

13. Lopez-Mejia IC, Vautrot V, De Toledo M, et al. A conserved splicing mechanism of the LMNA gene controls premature aging. Hum Mol Genet 2011;20:4540-55.

14. Faguer S, De Sandre-Giovannoli A, Hemery M, et al. A 10 Mb duplication in chromosome band 5q31.3-5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis. Eur J Med Genet 2011;54:310-3.

15. Fabre A, Martinez-Vinson C, Roquelaure B, et al. Novel mutations in TTC37 associated with tricho-hepato-enteric syndrome. Hum Mutat 2011;32:277-81.

16. Dutour A, Roll P, Gaborit B, et al. High prevalence of laminopathies among patients with metabolic syndrome. Hum Mol Genet 2011;20:3779-86.

17. Ben Yaou R, Navarro C, Quijano-Roy S, et al. Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation. Eur J Hum Genet 2011;19:647-54.

18. Thuret I, Sarles J, Merono F, et al. Neonatal screening for sickle cell disease in France: evaluation of the selective process. J Clin Pathol 2010;63:548-51.

19. Smigiel R, Jakubiak A, Esteves-Vieira V, et al. Novel frameshifting mutations of the ZMPSTE24 gene in two siblings affected with restrictive dermopathy and review of the mutations described in the literature. Am J Med Genet A 2010;152A:447-52.

20. Krahn M, Wein N, Bartoli M, et al. A naturally occurring human minidysferlin protein repairs sarcolemmal lesions in a mouse model of dysferlinopathy. Sci Transl Med 2010;2:50ra69.

21. Gaudy-Marqueste C, Roll P, Esteves-Vieira V, et al. LBR mutation and nuclear envelope defects in a patient affected with Reynolds syndrome. J Med Genet 2010;47:361-70.

22. Fontaine-Bisson B, Alessi MC, Saut N, et al. Polymorphisms of the lamina maturation pathway and their association with the metabolic syndrome: the DESIR prospective study. J Mol Med (Berl) 2010;88:193-201.

23.Renard D, Fourcade G, Milhaud D, et al. Novel LMNA mutation in atypical Werner syndrome presenting with ischemic disease. Stroke 2009;40:e11-4.

24. Gaudy-Marqueste C, Boyer A, Navarro C, et al. LMNA, ZMPSTE24, and LBR are not mutated in scleroderma. Genet Test Mol Biomarkers 2009;13:635-9.

25. Fabre A, Roquelaure B, Lacoste C, et al. Exclusion of EGFR, HRAS, DSP, JUP, CTNNB1, PLEC1, and EPPK1 as functional candidate genes in 7 families with syndromic diarrhoea. J Pediatr Gastroenterol Nutr 2009;48:501-3.

26. Bonello-Palot N, Gonnet K, Ducros C, et al. Late diagnosis of an unstable hemoglobin in a diabetic patient: Hb Baille alpha2 122(H5)His>Tyr. Clin Chim Acta 2009;406:174-5

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