J
Jean-Louis Mandel
Researcher at University of Strasbourg
Publications - 372
Citations - 39716
Jean-Louis Mandel is an academic researcher from University of Strasbourg. The author has contributed to research in topics: Gene & Fragile X syndrome. The author has an hindex of 101, co-authored 362 publications receiving 37522 citations. Previous affiliations of Jean-Louis Mandel include French Institute of Health and Medical Research & Collège de France.
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Journal ArticleDOI
Highly sensitive diagnosis of 43 monogenic forms of diabetes or obesity, through one step PCR-based enrichment in combination with next-generation sequencing
Amélie Bonnefond,J. Philippe,J. Philippe,Emmanuelle Durand,Emmanuelle Durand,Jean Muller,Sadia Saeed,Muhammad Arslan,Rosa de Diego Martínez,Franck De Graeve,Franck De Graeve,Véronique Dhennin,Véronique Dhennin,Iandry Rabearivelo,Iandry Rabearivelo,Michel Polak,Michel Polak,Hélène Cavé,Luis Castaño,Martine Vaxillaire,Martine Vaxillaire,Jean-Louis Mandel,Jean-Louis Mandel,Olivier Sand,Olivier Sand,Philippe Froguel +25 more
TL;DR: The authors' NGS approach provides an efficient means of highly sensitive screening for mutations in genes associated with monogenic forms of diabetes and obesity, and should be considered in patients displaying features of monogenic diabetes or obesity.
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Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.
Virginie Laurier,Corinne Stoetzel,Jean Muller,Christelle Thibault,Sandra Corbani,Nadine Jalkh,Nabiha Salem,Eliane Chouery,Olivier Poch,Serge Licaire,Jean-Marc Danse,Patricia Amati-Bonneau,Dominique Bonneau,André Mégarbané,Jean-Louis Mandel,Jean-Louis Mandel,Hélène Dollfus +16 more
TL;DR: The analysis of this family challenged linkage analysis based on the expectation of a single locus and mutation, and uncovered an unexpectedly complex pattern of mutations, which led to the identification of a novel BBS gene (BBS10).
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Carrier detection of Hemophilia B by using a restriction site polymorphism associated with the coagulation Factor IX gene.
L Grunebaum,Jean-Pierre Cazenave,Giovanna Camerino,C Kloepfer,Jean-Louis Mandel,P Tolstoshev,Michael Jaye,J P Lecocq +7 more
TL;DR: The feasibility of using linkage analysis at the DNA level for the genetic screening of Hemophilia B, which has the advantages over conventional assays of giving a diagnosis of certainty, and of being applicable to early prenatal diagnosis using biopsies of trophoblast villi, is demonstrated.
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The protein coded by the X-adrenoleukodystrophy gene is a peroxisomal integral membrane protein.
TL;DR: Using Western blot analysis of subcellular organelles purified by isopycnic density gradient centrifugation from X‐ALD and control fibroblasts, it is shown that the monoclonal antibodies directed against ALD‐P cross‐react with a 75 kDa protein in intact peroxisomes and that ALD-P is an integral component of theperoxisomal membrane.
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Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene.
TL;DR: Four amino acid substitutions, three frameshift mutations leading to premature termination signal, and a splicing mutation were identified and a nonsense mutation was detected in exon 4 of ALD protein.