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)
Get full text
Journal Article
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)
Get full text
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)
Get full text
Journal Article
Classical LCAT deficiency resulting from a novel homozygous dinucleotide deletion in exon 4 of the human lecithin: cholesterol acyltransferase gene causing a frameshift and stop codon at residue 144
Teh, Evelyn M., Chisholm, Jeffrey W., Dolphin, Peter J., Pouliquen, Yves, Savoldelli, M., de Gennes, J.L., Benlian, Pascale
Published in Atherosclerosis (01.09.1999)
Published in Atherosclerosis (01.09.1999)
Get full text
Journal Article
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)
Get full text
Journal Article
Homozygous deletion of exon 9 causes lipoprotein lipase deficiency: possible intron-Alu recombination
Benlian, P, Etienne, J, de Gennes, J L, Noé, L, Brault, D, Raisonnier, A, Arnault, F, Hamelin, J, Foubert, L, Chuat, J C
Published in Journal of lipid research (01.02.1995)
Published in Journal of lipid research (01.02.1995)
Get full text
Journal Article
The immunocytochemical heterogeneity of silent pituitary adenomas
Heshmati, H M, Turpin, G, Kujas, M, Lam, X, Van Effenterre, R, Racadot, J, de Gennes, J L
Published in Acta endocrinologica (Copenhagen) (01.08.1988)
Published in Acta endocrinologica (Copenhagen) (01.08.1988)
Get full text
Journal Article
Kaposi's sarcoma and HTLV-1 infection
Veyssier-Belot, C, Couderc, L J, Desgranges, Cl, Leblond, V, Dairou, F, Caubarrere, I, De Gennes, JL
Published in The Lancet (North American edition) (01.01.1990)
Get full text
Published in The Lancet (North American edition) (01.01.1990)
Journal Article
Testicular response to human chorionic gonadotrophin in chronic hyperprolactinaemia
Heshmati, H M, Turpin, G, Nahoul, K, Carayon, A, Salmon, D, Gueguen, A, de Gennes, J L
Published in Acta endocrinologica (Copenhagen) (01.04.1985)
Published in Acta endocrinologica (Copenhagen) (01.04.1985)
Get full text
Journal Article
Direct fetal blood examination for prenatal diagnosis of homozygous familial hypercholesterolemia
de Gennes, J L, Daffos, F, Dairou, F, Forestier, F, Capella-Pavlosky, M, Truffert, J, Gaschard, J C, Darbois, Y
Published in Arteriosclerosis (Dallas, Tex.) (01.09.1985)
Published in Arteriosclerosis (Dallas, Tex.) (01.09.1985)
Get more information
Journal Article