Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Liliane Capel"'
Autor:
François M. Petit, Marylise Hébert, Vincent Gajdos, Liliane Capel, Ridha M’Rad, Philippe Labrune
Publikováno v:
Haematologica, Vol 93, Iss 10 (2008)
Externí odkaz:
https://doaj.org/article/290dd73941904173b52d738938887e1d
Autor:
Philippe Labrune, Sophie Brisset, Clarisse Benattar, Marylise Hébert, Marie-Victoire Senat, Frédéric Parisot, Gérard Tachdjian, Olivier Picone, Liliane Capel, François Petit, Marie-Laure Maurin
Publikováno v:
European Journal of Human Genetics. 17:387-390
Alpha feto-protein (AFP) is a major plasma protein produced by the yolk sac and the liver during the fetal period. During the second trimester of pregnancy, APF and betahCG serum concentrations are commonly used for screening Down syndrome. AFP defic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57f1272cb9b3bb2c3ef259b72a657060
https://doi.org/10.1038/ejhg.2008.186
https://doi.org/10.1038/ejhg.2008.186
Autor:
Liliane Capel, Jacqueline Chalas, A. Lindenbaum, Philippe Labrune, René Frydman, François Audibert, Jeanne Francoual, Pascale Trioche
Publikováno v:
Hypertension in Pregnancy. 21:127-133
Apolipoprotein E (apo E) is pivotal in lipid metabolism. In women with preeclampsia, an atherogenic state is observed. We hypothesized that a particular genotype of apo E may be associated with preeclampsia.Genomic DNA was extracted from 55 normotens
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a86782e439aeef0f2bb870dafe38d83
https://doi.org/10.1081/prg-120004768
https://doi.org/10.1081/prg-120004768
Publikováno v:
Journal of Inherited Metabolic Disease. 23:107-112
In patients with glycogen storage disease type Ia (glucose-6-phosphatase deficiency), serum triglyceride concentrations are markedly raised, whereas phospholipids and cholesterol levels are only moderately elevated. In addition, both VLDL and LDL lip
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad26c82c9471c626d0637d000d4759c8
https://doi.org/10.1023/a:1005605513534
https://doi.org/10.1023/a:1005605513534
Autor:
A Myara, Vincent Gajdos, Liliane Capel, P. Labrune, Frédéric Parisot, François Petit, Jeanne Francoual
Publikováno v:
Clinical Genetics. 69:525-527
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::858810018180ac6ad7758d20a0ba2509
https://doi.org/10.1111/j.1399-0004.2006.00616.x
https://doi.org/10.1111/j.1399-0004.2006.00616.x
Autor:
Anne Myara, Liliane Capel, Jacqueline Chalas, Jeanne Francoual, Béatrice Le Bihan, Philippe Labrune
Publikováno v:
Human Mutation. 20:399-401
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::50c4c0ebc40c798f32386c36eae98e32
https://doi.org/10.1002/humu.10122
https://doi.org/10.1002/humu.10122
Autor:
Gérard Tachdjian, Philippe Labrune, Jeanne Francoual, Hassen Seboui, Naima Khrouf, Chahnez Mokrani, Marina Clement, Liliane Capel, Jacqueline Chalas, Pascale Trioche
Publikováno v:
Prenatal Diagnosis. 22:914-916
Crigler-Najjar syndrome type I (CN-I) is a rare and severe inherited disorder of bilirubin metabolism, caused by the total deficiency of bilirubin-UDP-glucuronosyltransferase (UGT) activity. Enzymatic diagnosis cannot be performed in chorionic villi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60e8930c3250ec7140d70b158959c148
https://doi.org/10.1002/pd.443
https://doi.org/10.1002/pd.443
Autor:
François Petit, Naima Khrouf, Liliane Capel, Vincent Gajdos, Stéphane Bézieau, Jeanne Francoual, Alix Mollet-Boudjemline, Abraham Koshy, Frédéric Parisot, Ridha M’Rad, Volodia Stozinic, P. Labrune, Catherine Scoul
Publikováno v:
European journal of human genetics : EJHG. 16(7)
Crigler–Najjar syndrome type I (CN-I) is a rare and severe metabolic disorder. A recurrent mutation – c.1070A>G in exon 3 – was identified in the Tunisian population, suggesting a founder effect. In 2004, the detection of this mutation in two K
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5401bf1a30941e753e778ab906cd0c5
https://pubmed.ncbi.nlm.nih.gov/18197191
https://pubmed.ncbi.nlm.nih.gov/18197191
Autor:
Vincent Gajdos, François Petit, Liliane Capel, Philippe Labrune, Christian Poüs, P. Trioche, Jeanne Francoual
Publikováno v:
Journal of inherited metabolic disease. 27(5)
Eleven patients with glycogen storage disease type Ib (GSD Ib) were studied. Using a combination of single-strand conformation polymorphism (SSCP) analysis, restriction enzyme digestion and direct sequencing, we were able to identify 21/22 mutant all
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::512a467da8a45191a269da9340a795b0
https://pubmed.ncbi.nlm.nih.gov/15669677
https://pubmed.ncbi.nlm.nih.gov/15669677
Autor:
François Petit, Azzedine Aboura, Philippe Labrune, Frédéric Parisot, Vincent Gajdos, Christian Poüs, Liliane Capel, Alain Lachaux, Gérard Tachdjian
Publikováno v:
European journal of human genetics : EJHG. 13(3)
Crigler-Najjar syndrome type I (CN-I) is a rare and severe autosomal recessive metabolic disease due to a total deficiency of bilirubin uridine diphosphate glucuronosyltransferase located on chromosome 2. We report on a child with CN-I due to a pheny
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81a3872c0da0c8f85111cbca8f8e9c71
https://pubmed.ncbi.nlm.nih.gov/15586176
https://pubmed.ncbi.nlm.nih.gov/15586176