Redonnet-Vernhet I - Search Results

1

Detection of an intragenic deletion expands the spectrum of CTSC mutations in Papillon-Lefèvre syndrome.

Jouary T, Goizet C, Coupry I, Redonnet-Vernhet I, Levade T, Burgelin I, Toutain A, Delaporte E, Douillard C, Lacombe D, Taieb A, Arveiler B. Jouary T, et al. J Invest Dermatol. 2008 Feb;128(2):322-5. doi: 10.1038/sj.jid.5700987. Epub 2007 Oct 18. J Invest Dermatol. 2008. PMID: 17943190 Free article.

2

Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene.

Redonnet-Vernhet I, Ploos van Amstel JK, Jansen RP, Wevers RA, Salvayre R, Levade T. Redonnet-Vernhet I, et al. J Med Genet. 1996 Aug;33(8):682-8. doi: 10.1136/jmg.33.8.682. J Med Genet. 1996. PMID: 8863162 Free PMC article.

3

Significance of two point mutations present in each HEXB allele of patients with adult GM2 gangliosidosis (Sandhoff disease) homozygosity for the Ile207-->Val substitution is not associated with a clinical or biochemical phenotype.

Redonnet-Vernhet I, Mahuran DJ, Salvayre R, Dubas F, Levade T. Redonnet-Vernhet I, et al. Biochim Biophys Acta. 1996 Nov 15;1317(2):127-33. doi: 10.1016/s0925-4439(96)00044-0. Biochim Biophys Acta. 1996. PMID: 8950198 Free article.

4

Cholesteryl ester storage disease: relationship between molecular defects and in situ activity of lysosomal acid lipase.

Redonnet-Vernhet I, Chatelut M, Basile JP, Salvayre R, Levade T. Redonnet-Vernhet I, et al. Biochem Mol Med. 1997 Oct;62(1):42-9. doi: 10.1006/bmme.1997.2626. Biochem Mol Med. 1997. PMID: 9367797

5

A novel lysosomal acid lipase gene mutation in a patient with cholesteryl ester storage disease.

Redonnet-Vernhet I, Chatelut M, Salvayre R, Levade T. Redonnet-Vernhet I, et al. Hum Mutat. 1998;11(4):335-6. Hum Mutat. 1998. PMID: 9554751

6

Osteoporosis in late-diagnosed adult homocystinuric patients.

Parrot F, Redonnet-Vernhet I, Lacombe D, Gin H. Parrot F, et al. J Inherit Metab Dis. 2000 Jun;23(4):338-40. doi: 10.1023/a:1005618927729. J Inherit Metab Dis. 2000. PMID: 10896288 No abstract available.

7

[Fabry disease: proposed guidelines from a French expert group for its diagnosis, treatment and follow-up].

Lidove O, Bekri S, Goizet C, Khau Van Kien A, Aractingi S, Knebelmann B, Choukroun G, Tsimaratos M, Redonnet-Vernhet I, Lacombe D, Jaussaud R. Lidove O, et al. Presse Med. 2007 Jul-Aug;36(7-8):1084-97. doi: 10.1016/j.lpm.2007.01.006. Epub 2007 Feb 2. Presse Med. 2007. PMID: 17276649 Review. French.

8

Tumoral calcinosis due to GALNT3 C.516-2A >T mutation in a black African family.

Laleye A, Alao MJ, Gbessi G, Adjagba M, Marche M, Coupry I, Redonnet-Vernhet I, Lepreux S, Ayivi B, Darboux RB, Lacombe D, Arveiler B. Laleye A, et al. Genet Couns. 2008;19(2):183-92. Genet Couns. 2008. PMID: 18618993

9

Hypoketotic hypoglycemia with myolysis and hypoparathyroidism: an unusual association in medium chain acyl-CoA desydrogenase deficiency (MCADD).

Baruteau J, Levade T, Redonnet-Vernhet I, Mesli S, Bloom MC, Broué P. Baruteau J, et al. J Pediatr Endocrinol Metab. 2009 Dec;22(12):1175-7. doi: 10.1515/jpem.2009.22.12.1175. J Pediatr Endocrinol Metab. 2009. PMID: 20333879

10

Fluxomic evidence for impaired contribution of short-chain acyl-CoA dehydrogenase to mitochondrial palmitate β-oxidation in symptomatic patients with ACADS gene susceptibility variants.

Dessein AF, Fontaine M, Joncquel-Chevalier Curt M, Briand G, Sechter C, Mention-Mulliez K, Dobbelaere D, Douillard C, Lacour A, Redonnet-Vernhet I, Lamireau D, Barth M, Minot-Myhié MC, Kuster A, de Lonlay P, Gregersen N, Acquaviva C, Vianey-Saban C, Vamecq J. Dessein AF, et al. Clin Chim Acta. 2017 Aug;471:101-106. doi: 10.1016/j.cca.2017.05.026. Epub 2017 May 19. Clin Chim Acta. 2017. PMID: 28532786

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