Výsledky vyhledávání - "Jean Luc De Gennes"

Intronic mutations outside of Alu -repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia

Autor: Yves Reznik, Dorothée Briffaut, Alexandre Fredenrich, Sabine Amsellem, Jean-Pierre Rabès, J.P. Girardet, Pascale Benlian, Jean Luc De Gennes, Michel Krempf, Eric Brukert, Alain Carrié, Bernard Vialettes, Philippe Moulin

Publikováno v: Human Genetics. 111:501-510

Familial hypercholesterolemia (FH), a frequent monogenic condition complicated by premature cardiovascular disease, is characterized by high allelic heterogeneity at the low-density lipoprotein receptor (LDLR) locus. Despite more than a decade of gen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89e241d7a9299c30b698de45c7367512
https://doi.org/10.1007/s00439-002-0813-4

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A single Ser259Arg mutation in the gene for lipoprotein lipase causes chylomicronemia in Moroccans of Berber ancestry

Autor: Ewa Ehrenborg, T. Bruin, Michael R. Hayden, Pascale Benlian, Jean Luc De Gennes, John J.P. Kastelein, Jean Furioli, L. Foubert

Publikováno v: Karolinska Institutet
Human mutation, 10(3), 179-185. Wiley-Liss Inc.
Human Mutation, 10, 179-185. Wiley-Liss Inc.

Lipoprotein lipase (LPL) is the rate-limiting enzyme for the hydrolysis of triglyceride-rich lipoproteins. Numerous LPL gene mutations have been described as a cause of familial chylomicronemia in various populations. In general, allelic heterogeneit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6dc99cd04a0c03e134d2455a7ec2efcb
https://doi.org/10.1002/(sici)1098-1004(1997)10:3<179::aid-humu1>3.3.co

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Identification of a new apolipoprotein E variant (E2 Arg142 → Leu) in type III hyperlipidemia

Autor: Jean-Luc De Gennes, P Richard, A. Iron, A. Cassaigne, I. Beucler, Maria Pascual de Zulueta

Publikováno v: Atherosclerosis. 112:19-28

A new rare apolipoprotein E mutant was identified as we were investigating the apolipoprotein E genotype of patients with type III hyperlipidemia (HLP III). The unusual DNA restriction fragment length polymorphism profile and then the sequence analys

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd388b1726d52466a3f1706f521cc3e7
https://doi.org/10.1016/0021-9150(94)05393-w

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Premature atherosclerosis in patients with familial chylomicronemia caused by mutations in the lipoprotein lipase gene

Autor: Jean Luc De Gennes, Pascale Benlian, S. Eric Gagné, Hanfang Zhang, L. Foubert, Michael R. Hayden

Publikováno v: The New England journal of medicine. 335(12)

Patients with lipoprotein lipase deficiency usually present with chylomicronemia in childhood. The syndrome has been considered nonatherogenic primarily because of the low levels of low-density lipoprotein (LDL) cholesterol. We prospectively evaluate

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::758a0241868e935f2139061a758de45b
https://pubmed.ncbi.nlm.nih.gov/9091793

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Phenotypic expression in double heterozygotes for familial hypercholesterolemia and familial defective apolipoprotein B-100

Autor: B. Hermelin, Isabelle Ginon, Jean Luc De Gennes, Elizabeth Villain, Lagarde Jp, Chantal Bernard, Gilbert Bereziat, Marie Christine Federspiel, Pascale Benlian, François Dairou, Véronique Bertrand

Publikováno v: Human mutation. 7(4)

Variability in the expression of monogenic lipid disorders may be observed in patients carrying the same DNA mutation, suggesting possible genetic or environmental interactions. Our objective was to investigate the genotype-phenotype relationships in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fc722fa5094118dbec9bbae28bc49a2
https://pubmed.ncbi.nlm.nih.gov/8723684

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