Zobrazeno 1 - 10 of 25 pro vyhledávání: '"S, Duthel"'
1
Phenotype variability of two FAP families with an identical APC germline mutation at codon 1465: a potential modifier effect?
Autor: S Duthel, S Olschwang, S Giraud, JC Saurin, T Martin-Denavit, Henri Plauchu
Publikováno v: Clinical Genetics. 60:125-131
We report the cases of two familial adenomatous polyposis (FAP) families who presented with the same 2 base pair deletion (AG) at codon 1465 of the adenomatous polyposis coli (APC) gene, but showed phenotypic variability. The mutation was revealed by
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::88dcfacab690f7b42e8dce0e0cf0fddf
https://doi.org/10.1034/j.1399-0004.2001.600206.x
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2
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
Autor: G Chauplannaz, R Dumas, Michel Boucherat, Jean Pouget, A Laguenay, Antoon Vandenberghe, Guy Chazot, Philippe Latour, M. Bost, S. Duthel, Elisabeth Ollagnon, Françoise Chapon
Publikováno v: Clinical Chemistry. 42:1021-1025
The most frequent form of Charcot-Marie-Tooth disease (CMT1A; OMIM118.220) is the result of a duplication on chromosome 17 in pll.2-p12. This region contains PMP22, a gene expressed in peripheral myelin. The mutation results from an unequal crossing-
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::341f4d5b7f7a6a752a5add1649f93cdd
https://doi.org/10.1093/clinchem/42.7.1021
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3
Competitive ELISA to evaluate the immunogenicity of double-virus-inactivated factor VIII in rabbits
Autor: P. Paulmier, J. L. Poplavsky, S. Duthel, F. Verdier, J. Descotes
Publikováno v: Blood Coagulation & Fibrinolysis. 6:S62-S64
Viral inactivation is a critical step during the manufacture of factor VIII formulations for use in humans. Indeed, viral inactivation procedures may alter the three-dimensional structure of factor VIII resulting in the formation of new epitopes whic
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8683c0944f5794676a3e6e9fdb1852c
https://doi.org/10.1097/00001721-199506002-00014
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4
Phenotype variability of two FAP families with an identical APC germline mutation at codon 1465: a potential modifier effect?
Autor: T, Martin-Denavit, S, Duthel, S, Giraud, S, Olschwang, J C, Saurin, H, Plauchu
Publikováno v: Clinical genetics. 60(2)
We report the cases of two familial adenomatous polyposis (FAP) families who presented with the same 2 base pair deletion (AG) at codon 1465 of the adenomatous polyposis coli (APC) gene, but showed phenotypic variability. The mutation was revealed by
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::ea864d118cdeec4bb6f3ad92b1ef2bc7
https://pubmed.ncbi.nlm.nih.gov/11553046
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5
CTG instability in myotonic dystrophy: molecular genetic analysis of families from south-eastern France with characteristics of intergenerational variation in CGT repeat numbers
Autor: S, Duthel, M, Bost, E, Ollagnon, C, Vial, P, Petiot, G, Chazot, A, Vandenberghe
Publikováno v: Annales de genetique. 42(3)
We report clinical, genetical and genealogical findings in 149 French families from the Rhône-Alpes area studied over a 5-year period. There was a significant excess of DM females compared to DM males with (CTG) repeat sizes between 1-2 kb. The mean
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::a766d17ad8efc9b143dd4de791d76270
https://pubmed.ncbi.nlm.nih.gov/10526658
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6
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
Autor: A, Vandenberghe, P, Latour, G, Chauplannaz, F, Chapon, J, Pouget, R, Dumas, A, Laguenay, E, Ollagnon, M, Bost, S, Duthel, G, Chazot, M, Boucherat
Publikováno v: Clinical chemistry. 42(7)
The most frequent form of Charcot-Marie-Tooth disease (CMT1A; OMIM118.220) is the result of a duplication on chromosome 17 in pll.2-p12. This region contains PMP22, a gene expressed in peripheral myelin. The mutation results from an unequal crossing-
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::e5443dec81e09af823b132aa7cdbc7b5
https://pubmed.ncbi.nlm.nih.gov/8674212
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7
Genetic heterogeneity in Niemann-Pick C disease: a study using somatic cell hybridization and linkage analysis
Autor: M T, Vanier, S, Duthel, C, Rodriguez-Lafrasse, P, Pentchev, E D, Carstea
Publikováno v: American journal of human genetics. 58(1)
The primary molecular defect underlying Niemann-Pick C disease (NPC) is still unknown. A wide spectrum of clinical and biochemical phenotypes has previously been documented. Indication of genetic heterogeneity has recently been provided for one patie
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::7d53fb23fa70c4fbfae003fb3c720ac4
https://pubmed.ncbi.nlm.nih.gov/8554047
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8
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9
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10
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