Benlian P - Search Results

1

Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome.

Quélin C, Loget P, Verloes A, Bazin A, Bessières B, Laquerrière A, Patrier S, Grigorescu R, Encha-Razavi F, Delahaye S, Jouannic JM, Carbonne B, D'Hervé D, Aubry MC, Macé G, Harvey T, Ville Y, Viot G, Joyé N, Odent S, Attié-Bitach T, Wolf C, Chevy F, Benlian P, Gonzales M. Quélin C, et al. Among authors: benlian p. Eur J Med Genet. 2012 Feb;55(2):81-90. doi: 10.1016/j.ejmg.2011.12.002. Epub 2011 Dec 22. Eur J Med Genet. 2012. PMID: 22226660 Free article.

2

Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations.

Witsch-Baumgartner M, Schwentner I, Gruber M, Benlian P, Bertranpetit J, Bieth E, Chevy F, Clusellas N, Estivill X, Gasparini G, Giros M, Kelley RI, Krajewska-Walasek M, Menzel J, Miettinen T, Ogorelkova M, Rossi M, Scala I, Schinzel A, Schmidt K, Schönitzer D, Seemanova E, Sperling K, Syrrou M, Talmud PJ, Wollnik B, Krawczak M, Labuda D, Utermann G. Witsch-Baumgartner M, et al. Among authors: benlian p. J Med Genet. 2008 Apr;45(4):200-9. doi: 10.1136/jmg.2007.053520. Epub 2007 Oct 26. J Med Genet. 2008. PMID: 17965227

3

Evidence of postzygotic mosaicism in a transmitted form of Conradi-Hunermann-Happle syndrome associated with a novel EBP mutation.

Morice-Picard F, Kostrzewa E, Wolf C, Benlian P, Taïeb A, Lacombe D. Morice-Picard F, et al. Among authors: benlian p. Arch Dermatol. 2011 Sep;147(9):1073-6. doi: 10.1001/archdermatol.2011.230. Arch Dermatol. 2011. PMID: 21931045

4

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: benlian p. 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.

5

European Lipoprotein Club: report of the 21st Annual Conference, Tutzing, September 28-October 1, 1998.

Benlian P, Aalto-Setälä K, Dieplinger H, Hofker M, James R, Poledne R, Talmud P, Vilaro S. Benlian P, et al. Atherosclerosis. 1999 Jun;144(2):449-58. doi: 10.1016/s0021-9150(99)00026-x. Atherosclerosis. 1999. PMID: 10407507

6

[Molecular genetics and lipoprotein lipase deficiency].

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

7

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: benlian p. Hum Mutat. 1992;1(4):325-32. doi: 10.1002/humu.1380010411. Hum Mutat. 1992. PMID: 1301940

8

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. J Lipid Res. 1995 Feb;36(2):356-66. J Lipid Res. 1995. PMID: 7751824 Free article.

9

[Molecular genetics in pure primary hypercholesterolemia].

Benlian P, Dairou F, de Gennes JL. Benlian P, et al. Bull Acad Natl Med. 1994 Mar;178(3):393-403; discussion 403-4. Bull Acad Natl Med. 1994. PMID: 8076179 French.

10

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

Benlian P, de Gennes JL, Dairou F, Hermelin B, Ginon I, Villain E, Lagarde JP, Federspiel MC, Bertrand V, Bernard C, Bereziat G. Benlian P, et al. Hum Mutat. 1996;7(4):340-5. doi: 10.1002/(SICI)1098-1004(1996)7:4<340::AID-HUMU8>3.0.CO;2-C. Hum Mutat. 1996. PMID: 8723684

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