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Agénésie déférentielle partielle unilatérale et hétérozygotie composite du gène CFTR (ΔF508/V938G)

Autor: V. Lefebvre-Khalil, V. Mitchell, F. Marcelli, Laurent Lemaitre, V. Dumur, Geoffroy Robin, J.-M. Rigot

Publikováno v: Gynécologie Obstétrique & Fertilité. 35:561-564

This is a case report of a thirty-year-old-man consulting for a primary infertility that was diagnosed four years ago. Andrologic exam was normal. Two spermograms found normal spermatic parameters. An uro-genital echography with a RMI showed that a u

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::92458079c8f97d6a191ed06d44ebc904
https://doi.org/10.1016/j.gyobfe.2006.12.026

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Use of denaturing HPLC and automated sequencing to screen the VMD2 gene for mutations associated with Best's vitelliform macular dystrophy

Autor: Maurice Menasche, Dominique Marchant, Daniel F. Schorderet, K. Sainton, P. Dureau, Jean-Louis Dufier, G. Brasseur, V. Puech, Marc Abitbol, C. Sternberg, J.C. Hache, Karïn Gogat, V. Dumur, S. Gadin, Hélène Dollfus, Francis L. Munier, C. Marsac

Publikováno v: Ophthalmic Genetics. 23:167-174

We identified three novel VMD2 mutations in patients with Best's macular dystrophy. DHPLC analysis of the 11 VMD2 exons revealed abnormal profiles in exon 8. Direct sequencing showed that these abnormal profiles were due to monoallelic transitions an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e048fd4e5e5032dab797463c8eda63ae
https://doi.org/10.1076/opge.23.3.167.7880

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[Unilateral partial deferential agenesia and CFTR gene composite heterozygoty (deltaF508/V938G)]

Autor: G, Robin, V, Lefèbvre-Khalil, V, Dumur, L, Lemaître, V, Mitchell, J-M, Rigot, F, Marcelli

Publikováno v: Gynecologie, obstetriquefertilite. 35(6)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::510996d40e0ce22d75f3fa1c3eee8120
https://pubmed.ncbi.nlm.nih.gov/17507277

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Genotypes of cytochrome P450 and clinical response to clomipramine in patients with major depression

Autor: M Goudemand, J Bouchez, V Dumur, M Lhermitte

Publikováno v: European Psychiatry. 10:410-412

SummaryThe genetic cytochrome P450 polymorphism is reported in factors affecting the individual response to drugs. The interindividual variation at steady-state levels or also in elimination of drugs, finds an explanation in genetic differences in th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf5133f7d591e6bdb11d88ab70384901
https://doi.org/10.1016/0924-9338(96)80347-6

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Human airway mucin glycosylation: a combinatory of carbohydrate determinants which vary in cystic fibrosis

Autor: G, Lamblin, S, Degroote, J M, Perini, P, Delmotte, A, Scharfman, M, Davril, J M, Lo-Guidice, N, Houdret, V, Dumur, A, Klein, P, Rousse

Publikováno v: Glycoconjugate journal. 18(9)

Human airway mucins represent a very broad family of polydisperse high molecular mass glycoproteins, which are part of the airway innate immunity. Apomucins, which correspond to their peptide part, are encoded by at least 6 different mucin genes (MUC

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::953d0236caeab47071985135fe5bb0eb
https://pubmed.ncbi.nlm.nih.gov/12386453

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[Pendred's syndrome. Current features]

Autor: J L, Wémeau, V, Vlaeminck-Guillem, F, Dubrulle, V, Dumur, C, Vincent

Publikováno v: Presse medicale (Paris, France : 1983). 30(34)

Introduction Pendred's syndrome is a recessive autosomal disease, traditionally defined as the association of deaf-mutism, goiter and dysfunctional iodide organization revealed by the perchlorate discharge test. It represents 4 to 10% of the causes o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::29d7c52221a0f79692c292b3b3269f6a
https://pubmed.ncbi.nlm.nih.gov/11760600

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Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy

Autor: D, Marchant, K, Gogat, S, Boutboul, M, Péquignot, C, Sternberg, P, Dureau, O, Roche, Y, Uteza, J C, Hache, B, Puech, V, Puech, V, Dumur, M, Mouillon, F L, Munier, D F, Schorderet, C, Marsac, J L, Dufier, M, Abitbol

Publikováno v: Human mutation. 17(3)

We report five novel VMD2 mutations in Best's macular dystrophy patients (S16F, I73N, R92H, V235L, and N296S). An SSCP analysis of the VMD2 11 exons revealed electrophoretic mobility shifts exclusively in exons 2, 3, 4, 6 and 8. Direct sequencing ind

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d3debc410d54812791d5e144f4d431ba
https://pubmed.ncbi.nlm.nih.gov/11241846

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Length variations of the poly(T) tract at the exon 3 splice acceptor site of the choroideremia gene

Autor: L, Beaufrère, S, Rieu, J C, Hache, V, Dumur, M, Claustres, S, Tuffery

Publikováno v: Genetic counseling (Geneva, Switzerland). 9(4)

By using the single strand conformational analysis to search for point mutations in the choroideremia gene, we have identified an intronic polymorphism within the intron 2 of the CHM gene. We have studied the frequency of this polymorphism in the pop

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::1ab305b82427fa403917f76b006a8c02
https://pubmed.ncbi.nlm.nih.gov/9894161

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