Duthel S - Search Results

1

Deletion of arginine (608) in acid sphingomyelinase is the prevalent mutation among Niemann-Pick disease type B patients from northern Africa.

Vanier MT, Ferlinz K, Rousson R, Duthel S, Louisot P, Sandhoff K, Suzuki K. Vanier MT, et al. Among authors: duthel s. Hum Genet. 1993 Oct;92(4):325-30. doi: 10.1007/BF01247328. Hum Genet. 1993. PMID: 8225311

2

Type C Niemann-Pick disease: biochemical aspects and phenotypic heterogeneity.

Vanier MT, Rodriguez-Lafrasse C, Rousson R, Duthel S, Harzer K, Pentchev PG, Revol A, Louisot P. Vanier MT, et al. Among authors: duthel s. Dev Neurosci. 1991;13(4-5):307-14. doi: 10.1159/000112178. Dev Neurosci. 1991. PMID: 1817036 Review.

3

Genetic heterogeneity in Niemann-Pick C disease: a study using somatic cell hybridization and linkage analysis.

Vanier MT, Duthel S, Rodriguez-Lafrasse C, Pentchev P, Carstea ED. Vanier MT, et al. Among authors: duthel s. Am J Hum Genet. 1996 Jan;58(1):118-25. Am J Hum Genet. 1996. PMID: 8554047 Free PMC article.

4

X-linked dominant Charcot-Marie-Tooth neuropathy (CMTX): new mutations in the connexin32 gene.

Ressot C, Latour P, Blanquet-Grossard F, Sturtz F, Duthel S, Battin J, Corbillon E, Ollagnon E, Serville F, Vandenberghe A, Dautigny A, Pham-Dinh D. Ressot C, et al. Among authors: duthel s. Hum Genet. 1996 Aug;98(2):172-5. doi: 10.1007/s004390050183. Hum Genet. 1996. PMID: 8698335

5

Phenotype variability of two FAP families with an identical APC germline mutation at codon 1465: a potential modifier effect?

Martin-Denavit T, Duthel S, Giraud S, Olschwang S, Saurin JC, Plauchu H. Martin-Denavit T, et al. Among authors: duthel s. Clin Genet. 2001 Aug;60(2):125-31. doi: 10.1034/j.1399-0004.2001.600206.x. Clin Genet. 2001. PMID: 11553046

6

Glycan microheterogeneity of alpha 1-antitrypsin in serum and meconium from normal and cystic fibrosis patients by crossed immunoaffinoelectrophoresis with different lectins (Con A, LCA, WGA).

Duthel S, Revol A. Duthel S, et al. Clin Chim Acta. 1993 Jun 16;215(2):173-87. doi: 10.1016/0009-8981(93)90124-m. Clin Chim Acta. 1993. PMID: 8403434

7

Molecular diagnosis of Charcot-Marie-Tooth 1A disease and hereditary neuropathy with liability to pressure palsies by quantifying CMT1A-REP sequences: consequences of recombinations at variant sites on chromosomes 17p11.2-12.

Vandenberghe A, Latour P, Chauplannaz G, Chapon F, Pouget J, Dumas R, Laguenay A, Ollagnon E, Bost M, Duthel S, Chazot G, Boucherat M. Vandenberghe A, et al. Among authors: duthel s. Clin Chem. 1996 Jul;42(7):1021-5. Clin Chem. 1996. PMID: 8674184

8

CTG instability in myotonic dystrophy: molecular genetic analysis of families from south-eastern France with characteristics of intergenerational variation in CGT repeat numbers.

Duthel S, Bost M, Ollagnon E, Vial C, Petiot P, Chazot G, Vandenberghe A. Duthel S, et al. Ann Genet. 1999;42(3):151-9. Ann Genet. 1999. PMID: 10526658 Clinical Trial.

9

Competitive ELISA to evaluate the immunogenicity of double-virus-inactivated factor VIII in rabbits.

Verdier F, Duthel S, Paulmier P, Poplavsky JL, Descotes J. Verdier F, et al. Among authors: duthel s. Blood Coagul Fibrinolysis. 1995 Jul;6 Suppl 2:S62-4. doi: 10.1097/00001721-199506002-00014. Blood Coagul Fibrinolysis. 1995. PMID: 7495972

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