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Items: 1 to 50 of 164

1.

Novel Chronic Mouse Model of Cerebral Cavernous Malformations.

Cardoso C, Arnould M, De Luca C, Otten C, Abdelilah-Seyfried S, Heredia A, Leutenegger AL, Schwaninger M, Tournier-Lasserve E, Boulday G.

Stroke. 2020 Apr;51(4):1272-1278. doi: 10.1161/STROKEAHA.119.027207. Epub 2020 Jan 29.

PMID:
31992178
2.

New insights into minor splicing-a transcriptomic analysis of cells derived from TALS patients.

Cologne A, Benoit-Pilven C, Besson A, Putoux A, Campan-Fournier A, Bober MB, De Die-Smulders CEM, Paulussen ADC, Pinson L, Toutain A, Roifman CM, Leutenegger AL, Mazoyer S, Edery P, Lacroix V.

RNA. 2019 Sep;25(9):1130-1149. doi: 10.1261/rna.071423.119. Epub 2019 Jun 7.

3.

Whole-Exome Sequencing in the Isolated Populations of Cilento from South Italy.

Nutile T, Ruggiero D, Herzig AF, Tirozzi A, Nappo S, Sorice R, Marangio F, Bellenguez C, Leutenegger AL, Ciullo M.

Sci Rep. 2019 Mar 11;9(1):4059. doi: 10.1038/s41598-019-41022-6.

4.

Detecting the dominance component of heritability in isolated and outbred human populations.

Herzig AF, Nutile T, Ruggiero D, Ciullo M, Perdry H, Leutenegger AL.

Sci Rep. 2018 Dec 21;8(1):18048. doi: 10.1038/s41598-018-36050-7.

5.

Strategies for phasing and imputation in a population isolate.

Herzig AF, Nutile T, Babron MC, Ciullo M, Bellenguez C, Leutenegger AL.

Genet Epidemiol. 2018 Mar;42(2):201-213. doi: 10.1002/gepi.22109. Epub 2018 Jan 10.

PMID:
29319195
6.

Variation in worldwide incidence of amyotrophic lateral sclerosis: a meta-analysis.

Marin B, Boumédiene F, Logroscino G, Couratier P, Babron MC, Leutenegger AL, Copetti M, Preux PM, Beghi E.

Int J Epidemiol. 2017 Feb 1;46(1):57-74. doi: 10.1093/ije/dyw061. Review.

7.

Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy.

Lesage S, Drouet V, Majounie E, Deramecourt V, Jacoupy M, Nicolas A, Cormier-Dequaire F, Hassoun SM, Pujol C, Ciura S, Erpapazoglou Z, Usenko T, Maurage CA, Sahbatou M, Liebau S, Ding J, Bilgic B, Emre M, Erginel-Unaltuna N, Guven G, Tison F, Tranchant C, Vidailhet M, Corvol JC, Krack P, Leutenegger AL, Nalls MA, Hernandez DG, Heutink P, Gibbs JR, Hardy J, Wood NW, Gasser T, Durr A, Deleuze JF, Tazir M, Destée A, Lohmann E, Kabashi E, Singleton A, Corti O, Brice A; French Parkinson's Disease Genetics Study (PDG); International Parkinson's Disease Genomics Consortium (IPDGC).

Am J Hum Genet. 2016 Mar 3;98(3):500-513. doi: 10.1016/j.ajhg.2016.01.014.

8.

Six Novel Loci Associated with Circulating VEGF Levels Identified by a Meta-analysis of Genome-Wide Association Studies.

Choi SH, Ruggiero D, Sorice R, Song C, Nutile T, Vernon Smith A, Concas MP, Traglia M, Barbieri C, Ndiaye NC, Stathopoulou MG, Lagou V, Maestrale GB, Sala C, Debette S, Kovacs P, Lind L, Lamont J, Fitzgerald P, Tönjes A, Gudnason V, Toniolo D, Pirastu M, Bellenguez C, Vasan RS, Ingelsson E, Leutenegger AL, Johnson AD, DeStefano AL, Visvikis-Siest S, Seshadri S, Ciullo M.

PLoS Genet. 2016 Feb 24;12(2):e1005874. doi: 10.1371/journal.pgen.1005874. eCollection 2016 Feb.

9.

High level of inbreeding in final phase of 1000 Genomes Project.

Gazal S, Sahbatou M, Babron MC, Génin E, Leutenegger AL.

Sci Rep. 2015 Dec 2;5:17453. doi: 10.1038/srep17453.

10.

Clinical and demographic factors and outcome of amyotrophic lateral sclerosis in relation to population ancestral origin.

Marin B, Logroscino G, Boumédiene F, Labrunie A, Couratier P, Babron MC, Leutenegger AL, Preux PM, Beghi E.

Eur J Epidemiol. 2016 Mar;31(3):229-45. doi: 10.1007/s10654-015-0090-x. Epub 2015 Oct 12. Review.

PMID:
26458931
11.

Relationship inference from the genetic data on parents or offspring: A comparative study.

Gazal S, Génin E, Leutenegger AL.

Theor Popul Biol. 2016 Feb;107:31-8. doi: 10.1016/j.tpb.2015.09.002. Epub 2015 Sep 30.

12.

Genome-wide inbreeding estimation within Lebanese communities using SNP arrays.

Jalkh N, Sahbatou M, Chouery E, Megarbane A, Leutenegger AL, Serre JL.

Eur J Hum Genet. 2015 Oct;23(10):1434. doi: 10.1038/ejhg.2015.17. No abstract available.

13.

A new F-box protein 7 gene mutation causing typical Parkinson's disease.

Lohmann E, Coquel AS, Honoré A, Gurvit H, Hanagasi H, Emre M, Leutenegger AL, Drouet V, Sahbatou M, Guven G, Erginel-Unaltuna N, Deleuze JF, Lesage S, Brice A.

Mov Disord. 2015 Jul;30(8):1130-3. doi: 10.1002/mds.26266. Epub 2015 May 23.

PMID:
26010069
14.

Genetic variants modulating CRIPTO serum levels identified by genome-wide association study in Cilento isolates.

Ruggiero D, Nappo S, Nutile T, Sorice R, Talotta F, Giorgio E, Bellenguez C, Leutenegger AL, Liguori GL, Ciullo M.

PLoS Genet. 2015 Jan 28;11(1):e1004976. doi: 10.1371/journal.pgen.1004976. eCollection 2015 Jan.

15.

Genome-wide inbreeding estimation within Lebanese communities using SNP arrays.

Jalkh N, Sahbatou M, Chouery E, Megarbane A, Leutenegger AL, Serre JL.

Eur J Hum Genet. 2015 Oct;23(10):1364-9. doi: 10.1038/ejhg.2014.246. Epub 2014 Nov 26. Erratum in: Eur J Hum Genet. 2015 Oct;23(10):1434.

16.

Inbreeding coefficient estimation with dense SNP data: comparison of strategies and application to HapMap III.

Gazal S, Sahbatou M, Perdry H, Letort S, Génin E, Leutenegger AL.

Hum Hered. 2014;77(1-4):49-62. doi: 10.1159/000358224. Epub 2014 Jul 29.

17.

[Anonymous sperm donation does not increase the risk for unions between relatives nor the incidence of autosomal recessive diseases due to consanguinity].

Serre JL, Leutenegger AL, Bernheim A, Fellous M, Rouen A, Kunstmann JM, Hyon C, Siffroi JP.

Gynecol Obstet Fertil. 2014 Apr;42(4):200-4. doi: 10.1016/j.gyobfe.2014.02.005. Epub 2014 Mar 26. French. No abstract available.

PMID:
24679600
18.

FSuite: exploiting inbreeding in dense SNP chip and exome data.

Gazal S, Sahbatou M, Babron MC, Génin E, Leutenegger AL.

Bioinformatics. 2014 Jul 1;30(13):1940-1. doi: 10.1093/bioinformatics/btu149. Epub 2014 Mar 14.

19.

Does anonymous sperm donation increase the risk for unions between relatives and the incidence of autosomal recessive diseases due to consanguinity?

Serre JL, Leutenegger AL, Bernheim A, Fellous M, Rouen A, Siffroi JP.

Hum Reprod. 2014 Mar;29(3):394-9. doi: 10.1093/humrep/det452. Epub 2013 Dec 16.

PMID:
24345578
20.

Genetic and environmental factors influencing the Placental Growth Factor (PGF) variation in two populations.

Sorice R, Ruggiero D, Nutile T, Aversano M, Husemoen L, Linneberg A, Bourgain C, Leutenegger AL, Ciullo M.

PLoS One. 2012;7(8):e42537. doi: 10.1371/journal.pone.0042537. Epub 2012 Aug 20.

21.

[Extreme microcephaly and growth retardation caused by mutations in a non-coding RNA component of the minor spliceosome].

Edery P, Alix E, Clerget-Darpoux F, Leutenegger AL.

Med Sci (Paris). 2012 Feb;28(2):130-3. doi: 10.1051/medsci/2012282004. Epub 2012 Feb 27. French. No abstract available.

22.

Could inbred cases identified in GWAS data succeed in detecting rare recessive variants where affected sib-pairs have failed?

Génin E, Sahbatou M, Gazal S, Babron MC, Perdry H, Leutenegger AL.

Hum Hered. 2012;74(3-4):142-52. doi: 10.1159/000346790. Epub 2013 Apr 11.

23.

Polynesian ecology determines seasonality of biliary atresia.

Girard M, Jannot AS, Besnard M, Leutenegger AL, Jacquemin E, Lyonnet S, Henrion-Caude A.

Hepatology. 2011 Nov;54(5):1893-4. doi: 10.1002/hep.24534. No abstract available.

PMID:
21748760
24.

Does inbreeding affect N-glycosylation of human plasma proteins?

Polašek O, Leutenegger AL, Gornik O, Zgaga L, Kolcic I, McQuillan R, Wilson JF, Hayward C, Wright AF, Lauc G, Campbell H, Rudan I.

Mol Genet Genomics. 2011 May;285(5):427-32. doi: 10.1007/s00438-011-0620-5. Epub 2011 Apr 13.

PMID:
21487732
25.

Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA.

Edery P, Marcaillou C, Sahbatou M, Labalme A, Chastang J, Touraine R, Tubacher E, Senni F, Bober MB, Nampoothiri S, Jouk PS, Steichen E, Berland S, Toutain A, Wise CA, Sanlaville D, Rousseau F, Clerget-Darpoux F, Leutenegger AL.

Science. 2011 Apr 8;332(6026):240-3. doi: 10.1126/science.1202205.

26.

Consanguinity around the world: what do the genomic data of the HGDP-CEPH diversity panel tell us?

Leutenegger AL, Sahbatou M, Gazal S, Cann H, Génin E.

Eur J Hum Genet. 2011 May;19(5):583-7. doi: 10.1038/ejhg.2010.205. Epub 2011 Mar 2.

27.

Genetics of VEGF serum variation in human isolated populations of cilento: importance of VEGF polymorphisms.

Ruggiero D, Dalmasso C, Nutile T, Sorice R, Dionisi L, Aversano M, Bröet P, Leutenegger AL, Bourgain C, Ciullo M.

PLoS One. 2011 Feb 9;6(2):e16982. doi: 10.1371/journal.pone.0016982.

28.

Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans.

Lesage S, Patin E, Condroyer C, Leutenegger AL, Lohmann E, Giladi N, Bar-Shira A, Belarbi S, Hecham N, Pollak P, Ouvrard-Hernandez AM, Bardien S, Carr J, Benhassine T, Tomiyama H, Pirkevi C, Hamadouche T, Cazeneuve C, Basak AN, Hattori N, Dürr A, Tazir M, Orr-Urtreger A, Quintana-Murci L, Brice A; French Parkinson's Disease Genetics Study Group.

Hum Mol Genet. 2010 May 15;19(10):1998-2004. doi: 10.1093/hmg/ddq081. Epub 2010 Mar 2.

PMID:
20197411
29.

Comparative assessment of methods for estimating individual genome-wide homozygosity-by-descent from human genomic data.

Polasek O, Hayward C, Bellenguez C, Vitart V, Kolcić I, McQuillan R, Saftić V, Gyllensten U, Wilson JF, Rudan I, Wright AF, Campbell H, Leutenegger AL.

BMC Genomics. 2010 Feb 25;11:139. doi: 10.1186/1471-2164-11-139.

30.

Runs of homozygosity in European populations.

McQuillan R, Leutenegger AL, Abdel-Rahman R, Franklin CS, Pericic M, Barac-Lauc L, Smolej-Narancic N, Janicijevic B, Polasek O, Tenesa A, Macleod AK, Farrington SM, Rudan P, Hayward C, Vitart V, Rudan I, Wild SH, Dunlop MG, Wright AF, Campbell H, Wilson JF.

Am J Hum Genet. 2008 Sep;83(3):359-72. doi: 10.1016/j.ajhg.2008.08.007. Epub 2008 Aug 28. Erratum in: Am J Hum Genet. 2008 Nov;83(5):658.

31.

[How hospitals should prepare for exceptional situations].

Leutenegger A.

Ther Umsch. 2008 Jan;65(1):32-5. Review. German.

PMID:
18399183
32.

[Dear readers].

Horn B, Leutenegger A.

Ther Umsch. 2008 Jan;65(1):3-4. German. No abstract available.

PMID:
18399177
33.

A novel locus for autosomal dominant "uncomplicated" hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3.

Hanein S, Dürr A, Ribai P, Forlani S, Leutenegger AL, Nelson I, Babron MC, Elleuch N, Depienne C, Charon C, Brice A, Stevanin G.

Hum Genet. 2007 Nov;122(3-4):261-73. Epub 2007 Jun 28.

PMID:
17605047
34.

It's cheap to be colorful. Anthozoans show a slow turnover of GFP-like proteins.

Leutenegger A, D'Angelo C, Matz MV, Denzel A, Oswald F, Salih A, Nienhaus GU, Wiedenmann J.

FEBS J. 2007 May;274(10):2496-505. Epub 2007 Apr 10.

35.

LRRK2 exon 41 mutations in sporadic Parkinson disease in Europeans.

Lesage S, Janin S, Lohmann E, Leutenegger AL, Leclere L, Viallet F, Pollak P, Durif F, Thobois S, Layet V, Vidailhet M, Agid Y, Dürr A, Brice A; French Parkinson's Disease Genetics Study Group, Bonnet AM, Borg M, Broussolle E, Damier P, Destée A, Martinez M, Penet C, Rasco O, Tison F, Tranchan C, Vérin M.

Arch Neurol. 2007 Mar;64(3):425-30.

PMID:
17353388
36.

Contributions of host and symbiont pigments to the coloration of reef corals.

Oswald F, Schmitt F, Leutenegger A, Ivanchenko S, D'Angelo C, Salih A, Maslakova S, Bulina M, Schirmbeck R, Nienhaus GU, Matz MV, Wiedenmann J.

FEBS J. 2007 Feb;274(4):1102-9. Epub 2007 Jan 22.

37.

Juvenile-onset Parkinsonism as a result of the first mutation in the adenosine triphosphate orientation domain of PINK1.

Leutenegger AL, Salih MA, Ibáñez P, Mukhtar MM, Lesage S, Arabi A, Lohmann E, Dürr A, Ahmed AE, Brice A.

Arch Neurol. 2006 Sep;63(9):1257-61.

PMID:
16966503
38.

Using genomic inbreeding coefficient estimates for homozygosity mapping of rare recessive traits: application to Taybi-Linder syndrome.

Leutenegger AL, Labalme A, Genin E, Toutain A, Steichen E, Clerget-Darpoux F, Edery P.

Am J Hum Genet. 2006 Jul;79(1):62-6. Epub 2006 Apr 28.

39.

Modeling the effect of a genetic factor for a complex trait in a simulated population.

Bourgey M, Leutenegger AL, Cousin E, Bourgain C, Babron MC, Clerget-Darpoux F.

BMC Genet. 2005 Dec 30;6 Suppl 1:S87.

40.

Detection of susceptibility loci by genome-wide linkage analysis.

Babron MC, Bourgain C, Leutenegger AL, Clerget-Darpoux F.

BMC Genet. 2005 Dec 30;6 Suppl 1:S18.

41.

LRRK2 G2019S as a cause of Parkinson's disease in North African Arabs.

Lesage S, Dürr A, Tazir M, Lohmann E, Leutenegger AL, Janin S, Pollak P, Brice A; French Parkinson's Disease Genetics Study Group.

N Engl J Med. 2006 Jan 26;354(4):422-3. No abstract available.

PMID:
16436781
42.

[LRRK2: a gene belonging to the ROCO family is implicated in the Parkinson's disease].

Lesage S, Leutenegger AL, Brice A.

Med Sci (Paris). 2005 Dec;21(12):1015-7. French. No abstract available.

43.

G2019S LRRK2 mutation in French and North African families with Parkinson's disease.

Lesage S, Ibanez P, Lohmann E, Pollak P, Tison F, Tazir M, Leutenegger AL, Guimaraes J, Bonnet AM, Agid Y, Dürr A, Brice A; French Parkinson's Disease Genetics Study Group.

Ann Neurol. 2005 Nov;58(5):784-7.

PMID:
16240353
44.

LRRK2 haplotype analyses in European and North African families with Parkinson disease: a common founder for the G2019S mutation dating from the 13th century.

Lesage S, Leutenegger AL, Ibanez P, Janin S, Lohmann E, Dürr A, Brice A; French Parkinson's Disease Genetics Study Group.

Am J Hum Genet. 2005 Aug;77(2):330-2. No abstract available.

45.

Coincidence of two genetic forms of Charcot-Marie-Tooth disease in a single family.

Verny C, Ravisé N, Leutenegger AL, Pouplard F, Dubourg O, Tardieu S, Dubas F, Brice A, Genin E, LeGuern E.

Neurology. 2004 Oct 26;63(8):1527-9.

PMID:
15505184
46.

[How often do surgical residents operate in a category A non-university post-graduate teaching hospital?].

Derungs U, Nussbaumer P, Sommer Ch, Leutenegger A, Furrer M.

Swiss Surg. 2003;9(6):257-62. German.

PMID:
14725093
47.

[Editorial on the last issue of Swiss Surgery].

Leutenegger A.

Swiss Surg. 2003;9(6):255-6. French, German. No abstract available.

PMID:
14725092
48.

From Correspondenzblatt to BJS - a century of Swiss surgical publishing.

Harder F, Leutenegger A, Clavien PA.

Br J Surg. 2004 Jan;91(1):2-3. No abstract available.

PMID:
14716786
49.

Estimation of the inbreeding coefficient through use of genomic data.

Leutenegger AL, Prum B, Génin E, Verny C, Lemainque A, Clerget-Darpoux F, Thompson EA.

Am J Hum Genet. 2003 Sep;73(3):516-23. Epub 2003 Jul 29.

50.

Impact of parental relationships in maximum lod score affected sib-pair method.

Leutenegger AL, Génin E, Thompson EA, Clerget-Darpoux F.

Genet Epidemiol. 2002 Nov;23(4):413-25.

PMID:
12432507

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