De Gennes JL - Search Results

1

Complete paternal isodisomy for chromosome 8 unmasked by lipoprotein lipase deficiency.

Benlian P, Foubert L, Gagné E, Bernard L, De Gennes JL, Langlois S, Robinson W, Hayden M. Benlian P, et al. Among authors: de gennes jl. Am J Hum Genet. 1996 Aug;59(2):431-6. Am J Hum Genet. 1996. PMID: 8755931 Free PMC article.

2

Recurrent missense mutations at the first and second base of codon Arg243 in human lipoprotein lipase in patients of different ancestries.

Ma Y, Liu MS, Chitayat D, Bruin T, Beisiegel U, Benlian P, Foubert L, De Gennes JL, Funke H, Forsythe I, et al. Ma Y, et al. Among authors: de gennes jl. Hum Mutat. 1994;3(1):52-8. doi: 10.1002/humu.1380030109. Hum Mutat. 1994. PMID: 7906986

3

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

Benlian P, De Gennes JL, Foubert L, Zhang H, Gagné SE, Hayden M. Benlian P, et al. Among authors: de gennes jl. N Engl J Med. 1996 Sep 19;335(12):848-54. doi: 10.1056/NEJM199609193351203. N Engl J Med. 1996. PMID: 8778602 Free article.

4

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

Foubert L, Bruin T, De Gennes JL, Ehrenborg E, Furioli J, Kastelein J, Benlian P, Hayden M. Foubert L, et al. Among authors: de gennes jl. Hum Mutat. 1997;10(3):179-85. doi: 10.1002/(SICI)1098-1004(1997)10:3<179::AID-HUMU1>3.0.CO;2-E. Hum Mutat. 1997. PMID: 9298816

5

Compound heterozygosity for frameshift mutations in the gene for lipoprotein lipase in a patient with early-onset chylomicronemia.

Foubert L, De Gennes JL, Benlian P, Truffert J, Miao L, Hayden MR. Foubert L, et al. Among authors: de gennes jl. Hum Mutat. 1998;Suppl 1:S141-4. doi: 10.1002/humu.1380110148. Hum Mutat. 1998. PMID: 9452069 No abstract available.

6

Homozygous deletion of exon 9 causes lipoprotein lipase deficiency: possible intron-Alu recombination.

Benlian P, Etienne J, de Gennes JL, Noé L, Brault D, Raisonnier A, Arnault F, Hamelin J, Foubert L, Chuat JC, et al. Benlian P, et al. Among authors: de gennes jl. J Lipid Res. 1995 Feb;36(2):356-66. J Lipid Res. 1995. PMID: 7751824 Free article.

7

[Molecular genetics and lipoprotein lipase deficiency].

Foubert L, Benlian P, de Gennes JL. Foubert L, et al. Among authors: de gennes jl. Bull Acad Natl Med. 1994 Mar;178(3):405-13. Bull Acad Natl Med. 1994. PMID: 8076180 French.

8

Assessment of French patients with LPL deficiency for French Canadian mutations.

Foubert L, De Gennes JL, Lagarde JP, Ehrenborg E, Raisonnier A, Girardet JP, Hayden MR, Benlian P. Foubert L, et al. Among authors: de gennes jl. J Med Genet. 1997 Aug;34(8):672-5. doi: 10.1136/jmg.34.8.672. J Med Genet. 1997. PMID: 9279761 Free PMC article.

9

Screening for new mutations in the LDL receptor gene in seven French familial hypercholesterolemia families by the single strand conformation polymorphism method.

Loux N, Saint-Jore B, Collod G, Dairou F, Benlian P, Truffert J, Dastugue B, Douste-Blazy P, de Gennes JL, Junien C, et al. Loux N, et al. Among authors: de gennes jl. Hum Mutat. 1992;1(4):325-32. doi: 10.1002/humu.1380010411. Hum Mutat. 1992. PMID: 1301940

10

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 EM, Chisholm JW, Dolphin PJ, Pouliquen Y, Savoldelli M, de Gennes JL, Benlian P. Teh EM, et al. Among authors: de gennes jl. Atherosclerosis. 1999 Sep;146(1):141-51. doi: 10.1016/s0021-9150(99)00112-4. Atherosclerosis. 1999. PMID: 10487497

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