Interrelationship of plasma triglyceride and coagulant factor VII levels in normotriglyceridemic hypercholesterolemia
Bruckert, Eric, de Sousa, Joao Carvalho, Giral, Philippe, Soria, Claudine, John Chapman, M., Caen, Jacques, de Gennes, Jean-Luc
Published in Atherosclerosis (01.02.1989)
Published in Atherosclerosis (01.02.1989)
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Compound heterozygote for both rare apolipoprotein E1 (Gly127-->Asp, Arg158-->Cys) and E3(Cys112-->Arg, Arg251-->Gly) alleles in a multigeneration pedigree with hyperlipoproteinaemia
Richard, P, Beucler, I, Pascual De Zulueta, M, Biteau, N, De Gennes, J L, Iron, A
Published in Clinical science (1979) (01.07.1997)
Published in Clinical science (1979) (01.07.1997)
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A single Ser259Arg mutation in the gene for lipoprotein lipase causes chylomicronemia in Moroccans of Berber ancestry
Foubert, Luc, Bruin, Taco, Gennes, Jean Luc De, Ehrenborg, Ewa, Furioli, Jean, Kastelein, John, Benlian, Pascale, Hayden, Michael
Published in Human mutation (1997)
Published in Human mutation (1997)
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Journal Article
Premature Atherosclerosis in Patients with Familial Chylomicronemia Caused by Mutations in the Lipoprotein Lipase Gene
Benlian, Pascale, De Gennes, Jean Luc, Foubert, Luc, Zhang, Hanfang, Gagné, S. Eric, Hayden, Michael
Published in The New England journal of medicine (19.09.1996)
Published in The New England journal of medicine (19.09.1996)
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Linkage analysis of hereditary thyroid carcinoma with and without pheochromocytoma
Narod, S A, Sobol, H, Nakamura, Y, Calmettes, C, Baulieu, J L, Bigorgne, J C, Chabrier, G, Couette, J, de Gennes, J L, Duprey, J
Published in Human genetics (01.11.1989)
Published in Human genetics (01.11.1989)
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Recurrent missense mutations at the first and second base of codon Arg243 in human lipoprotein lipase in patients of different ancestries
Ma, Y, Liu, M S, Chitayat, D, Bruin, T, Beisiegel, U, Benlian, P, Foubert, L, De Gennes, J L, Funke, H, Forsythe, I
Published in Human mutation (1994)
Published in Human mutation (1994)
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Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia
AMSELLEM, Sabine, BRIFFAUT, Dorothée, DE GENNES, Jean Luc, BRUKERT, Eric, BENLIAN, Pascale, CARRIE, Alain, RABES, Jean Pierre, GIRARDET, Jean Philippe, FREDENRICH, Alexandre, MOULIN, Philippe, KREMPF, Michel, REZNIK, Yves, VIALETTES, Bernard
Published in Human genetics (01.12.2002)
Published in Human genetics (01.12.2002)
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Pituitary prolactinoma, adrenal aldosterone-producing adenomas, gastric schwannoma and colonic polyadenomas: a possible variant of multiple endocrine neoplasia (MEN) type I
Doumith, R, de Gennes, J L, Cabane, J P, Zygelman, N
Published in Acta endocrinologica (Copenhagen) (01.06.1982)
Published in Acta endocrinologica (Copenhagen) (01.06.1982)
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Complete paternal isodisomy for chromosome 8 unmasked by lipoprotein lipase deficiency
BENLIAN, P, FOUBERT, L, GAGNE, E, BERNARD, L, DE GENNES, J. L, LANGLOIS, S, ROBINSON, W, HAYDEN, M
Published in American journal of human genetics (01.08.1996)
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Published in American journal of human genetics (01.08.1996)
Journal Article
Common and rare genotypes of human apolipoprotein E determined by specific restriction profiles of polymerase chain reaction-amplified DNA
Richard, P, Thomas, G, de Zulueta, MP, De Gennes, JL, Thomas, M, Cassaigne, A, Bereziat, G, Iron, A
Published in Clinical chemistry (Baltimore, Md.) (01.01.1994)
Published in Clinical chemistry (Baltimore, Md.) (01.01.1994)
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Phenotypic expression in double heterozygotes for familial hypercholesterolemia and familial defective apolipoprotein B-100
Benlian, Pascale, de Gennes, Jean Luc, Dairou, François, Hermelin, Brigitte, Ginon, Isabelle, Villain, Elizabeth, Lagarde, Jean Pierre, Federspiel, Marie Christine, Bertrand, Véronique, Bernard, Chantal, Bereziat, Gilbert
Published in Human mutation (1996)
Published in Human mutation (1996)
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Assessment of French patients with LPL deficiency for French Canadian mutations
Foubert, L, De Gennes, J L, Lagarde, J P, Ehrenborg, E, Raisonnier, A, Girardet, J P, Hayden, M R, Benlian, P
Published in Journal of medical genetics (01.08.1997)
Published in Journal of medical genetics (01.08.1997)
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17α-Hydroxylase deficiency syndrome associated with bilateral streak gonads and impaired development of Müllerian ducts derivatives
de Gennes, Jean-Luc, Jambart, Sélim, Turpin, Gérard, Elkik, François, Roger, Marc
Published in European journal of endocrinology (01.05.1982)
Published in European journal of endocrinology (01.05.1982)
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Direct Fetal Blood Examination for Prenatal Diagnosis of Homozygous Familial Hypercholesterolemia
de Gennes, Jean Luc, Daffos, Fernand, Dairou, Francois, Forestier, Francois, Capella-Pavlosky, Marline, Truffert, Jacqueline, Gaschard, Jean Claude, Darbois, Yves
Published in Arteriosclerosis, thrombosis, and vascular biology (01.09.1985)
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Published in Arteriosclerosis, thrombosis, and vascular biology (01.09.1985)
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