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
Extensive germinal mosaicism in a family with X linked myotubular myopathy simulates genetic heterogeneity.
Marie Vincent,Christophe Guiraud-Chaumeil,Jocelyn Laporte,S Manouvrier-Hanu,Jean-Louis Mandel +4 more
TL;DR: A 4 bp deletion in exon 4 of the MTM1 gene is found, which originated from the grandfather of the affected children and which was transmitted to three daughters, illustrating the importance of mutation detection to avoid pitfalls in linkage analysis that may be caused by such cases of germinal mosaicism.
Journal ArticleDOI
Actin-like sequences are present on human X and Y chromosomes.
TL;DR: The presence of actin‐like sequences on both the X and the Y chromosomes is shown by blot hybridization, showing that the region of chromosome Y which contains the actin sequence is not translocated onto the X chromosome (or onto autosomes) in these patients.
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A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome.
Clarisse Delvallée,Samuel Nicaise,Manuela Antin,Anne Sophie Leuvrey,Elsa Nourisson,Carmen C. Leitch,Georgios Kellaris,Corinne Stoetzel,Véronique Geoffroy,Sophie Scheidecker,Boris Keren,Christel Depienne,Christel Depienne,Joakim Klar,Niklas Dahl,Jean-François Deleuze,Emmanuelle Génin,Richard Redon,Florence Demurger,Koenraad Devriendt,Michèle Mathieu-Dramard,Christine Poitou-Bernert,Sylvie Odent,Nicholas Katsanis,Nicholas Katsanis,Jean-Louis Mandel,Erica E. Davis,Erica E. Davis,Hélène Dollfus,Jean Muller +29 more
TL;DR: Functional studies with patient‐derived cell lines confirmed that the BBS1 SVA‐F is deleterious as evidenced by a significant depletion of both mRNA and protein levels, highlighting the importance of dedicated bioinformatics pipelines to identify all types of variation.
Journal Article
The red-green visual pigment gene region in adrenoleukodystrophy.
Patrick Aubourg,Robert Feil,S Guidoux,Jean-Claude Kaplan,Hugo W. Moser,Axel Kahn,Jean-Louis Mandel +6 more
TL;DR: It is proposed that a single DNA rearrangement could underlie both ALD and abnormal color vision in patients with adrenomyeloneuropathy, and that the frequent phenotypic color vision anomalies owe their origin to deleted DNA that includes regulatory genes for color vision.
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cDNA sequence of Aldgh, the mouse homolog of the X-linked adrenoleukodystrophy gene
TL;DR: The sequence of the mouse ALD cDNA (Aldh) and data suggesting that homologous sequences are present in a wide range of species are reported here, and it is suggested that homology to ATP-binding domains of proteins such as CFTR or the multidrug resistance glycoprotein (MDR1) is present.