Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 29

1.

Familial predisposition to TP53/complex karyotype MDS and leukemia in DNA repair-deficient xeroderma pigmentosum.

Sarasin A, Quentin S, Droin N, Sahbatou M, Saada V, Auger N, Boursin Y, Dessen P, Raimbault A, Asnafi V, Schmutz JL, Taïeb A, Menck CFM, Rosselli F, La Rochelle LD, Robert C, Sicre de Fontbrune F, Sébert M, Leblanc T, Kannouche P, De Botton S, Solary E, Soulier J.

Blood. 2019 Jun 20;133(25):2718-2724. doi: 10.1182/blood-2019-01-895698. Epub 2019 Mar 26. No abstract available.

2.

Estimating the age of p.(Phe508del) with family studies of geographically distinct European populations and the early spread of cystic fibrosis.

Farrell P, Férec C, Macek M, Frischer T, Renner S, Riss K, Barton D, Repetto T, Tzetis M, Giteau K, Duno M, Rogers M, Levy H, Sahbatou M, Fichou Y, Le Maréchal C, Génin E.

Eur J Hum Genet. 2018 Dec;26(12):1832-1839. doi: 10.1038/s41431-018-0234-z. Epub 2018 Aug 8.

3.

Major improvement in the detection of microsatellite instability in colorectal cancer using HSP110 T17 E-ice-COLD-PCR.

How-Kit A, Daunay A, Buhard O, Meiller C, Sahbatou M, Collura A, Duval A, Deleuze JF.

Hum Mutat. 2018 Mar;39(3):441-453. doi: 10.1002/humu.23379. Epub 2017 Dec 26.

PMID:
29227006
4.

Assessment of the prognostic role of a 94-single nucleotide polymorphisms risk score in early breast cancer in the SIGNAL/PHARE prospective cohort: no correlation with clinico-pathological characteristics and outcomes.

Curtit E, Pivot X, Henriques J, Paget-Bailly S, Fumoleau P, Rios M, Bonnefoi H, Bachelot T, Soulié P, Jouannaud C, Bourgeois H, Petit T, Tennevet I, Assouline D, Mathieu MC, Jacquin JP, Lavau-Denes S, Darut-Jouve A, Ferrero JM, Tarpin C, Lévy C, Delecroix V, Trillet-Lenoir V, Cojocarasu O, Meunier J, Pierga JY, Kerbrat P, Faure-Mercier C, Blanché H, Sahbatou M, Boland A, Bacq D, Besse C, Thomas G, Deleuze JF, Pauporté I, Romieu G, Cox DG.

Breast Cancer Res. 2017 Aug 22;19(1):98. doi: 10.1186/s13058-017-0888-4.

5.

Constitutional variants are not associated with HER2-positive breast cancer: results from the SIGNAL/PHARE clinical cohort.

Pivot X, Romieu G, Fumoleau P, Rios M, Bonnefoi H, Bachelot T, Soulié P, Jouannaud C, Bourgeois H, Petit T, Tennevet I, Assouline D, Mathieu MC, Jacquin JP, Lavau-Denes S, Darut-Jouve A, Ferrero JM, Tarpin C, Lévy C, Delecroix V, Trillet-Lenoir V, Cojocarasu O, Meunier J, Pierga JY, Agostini C, Kerbrat P, Faure-Mercier C, Blanché H, Sahbatou M, Boland A, Bacq D, Besse C, Calvo F, Renaud A, Deleuze JF, Pauporté I, Thomas G, Cox DG.

NPJ Breast Cancer. 2017 Feb 23;3:4. doi: 10.1038/s41523-017-0005-y. eCollection 2017.

6.

GWAS in the SIGNAL/PHARE clinical cohort restricts the association between the FGFR2 locus and estrogen receptor status to HER2-negative breast cancer patients.

Cox DG, Curtit E, Romieu G, Fumoleau P, Rios M, Bonnefoi H, Bachelot T, Soulié P, Jouannaud C, Bourgeois H, Petit T, Tennevet I, Assouline D, Mathieu MC, Jacquin JP, Lavau-Denes S, Darut-Jouve A, Ferrero JM, Tarpin C, Lévy C, Delecroix V, Trillet-Lenoir V, Cojocarasu O, Meunier J, Pierga JY, Faure-Mercier C, Blanché H, Sahbatou M, Boland A, Bacq D, Besse C, Deleuze JF, Pauporté I, Thomas G, Pivot X.

Oncotarget. 2016 Nov 22;7(47):77358-77364. doi: 10.18632/oncotarget.12669.

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.

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.

9.

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.

10.

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
11.

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.

12.

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.

13.

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.

14.

Comparative power of family-based association strategies to detect disease-causing variants under two-locus models.

Babron MC, Guilloud-Bataille M, Sahbatou M, Demenais F, Génin E, Dizier MH.

Genet Epidemiol. 2012 Dec;36(8):848-55. doi: 10.1002/gepi.21672. Epub 2012 Aug 9.

PMID:
22887021
15.

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.

16.

Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis.

Marrakchi S, Guigue P, Renshaw BR, Puel A, Pei XY, Fraitag S, Zribi J, Bal E, Cluzeau C, Chrabieh M, Towne JE, Douangpanya J, Pons C, Mansour S, Serre V, Makni H, Mahfoudh N, Fakhfakh F, Bodemer C, Feingold J, Hadj-Rabia S, Favre M, Genin E, Sahbatou M, Munnich A, Casanova JL, Sims JE, Turki H, Bachelez H, Smahi A.

N Engl J Med. 2011 Aug 18;365(7):620-8. doi: 10.1056/NEJMoa1013068.

17.

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.

18.

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.

19.

Human longevity and 11p15.5: a study in 1321 centenarians.

Lescai F, Blanché H, Nebel A, Beekman M, Sahbatou M, Flachsbart F, Slagboom E, Schreiber S, Sorbi S, Passarino G, Franceschi C.

Eur J Hum Genet. 2009 Nov;17(11):1515-9. doi: 10.1038/ejhg.2009.54. Epub 2009 Apr 15.

20.

Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype.

Brems H, Chmara M, Sahbatou M, Denayer E, Taniguchi K, Kato R, Somers R, Messiaen L, De Schepper S, Fryns JP, Cools J, Marynen P, Thomas G, Yoshimura A, Legius E.

Nat Genet. 2007 Sep;39(9):1120-6. Epub 2007 Aug 19.

PMID:
17704776
21.

Genome-wide association scan identifies a colorectal cancer susceptibility locus on chromosome 8q24.

Zanke BW, Greenwood CM, Rangrej J, Kustra R, Tenesa A, Farrington SM, Prendergast J, Olschwang S, Chiang T, Crowdy E, Ferretti V, Laflamme P, Sundararajan S, Roumy S, Olivier JF, Robidoux F, Sladek R, Montpetit A, Campbell P, Bezieau S, O'Shea AM, Zogopoulos G, Cotterchio M, Newcomb P, McLaughlin J, Younghusband B, Green R, Green J, Porteous ME, Campbell H, Blanche H, Sahbatou M, Tubacher E, Bonaiti-Pellié C, Buecher B, Riboli E, Kury S, Chanock SJ, Potter J, Thomas G, Gallinger S, Hudson TJ, Dunlop MG.

Nat Genet. 2007 Aug;39(8):989-94. Epub 2007 Jul 8.

PMID:
17618283
22.
23.

SREBF-1 gene polymorphisms are associated with obesity and type 2 diabetes in French obese and diabetic cohorts.

Eberlé D, Clément K, Meyre D, Sahbatou M, Vaxillaire M, Le Gall A, Ferré P, Basdevant A, Froguel P, Foufelle F.

Diabetes. 2004 Aug;53(8):2153-7.

24.

Single nucleotide polymorphisms of protein tyrosine phosphatase 1B gene are associated with obesity in morbidly obese French subjects.

Kipfer-Coudreau S, Eberlé D, Sahbatou M, Bonhomme A, Guy-Grand B, Froguel P, Galan P, Basdevant A, Clément K.

Diabetologia. 2004 Jul;47(7):1278-1284. doi: 10.1007/s00125-004-1432-5. Epub 2004 Jul 3.

PMID:
15235769
25.

Significant linkage to spondyloarthropathy on 9q31-34.

Miceli-Richard C, Zouali H, Said-Nahal R, Lesage S, Merlin F, De Toma C, Blanche H, Sahbatou M, Dougados M, Thomas G, Breban M, Hugot JP; Groupe Français d'Etude Génétique des Spondylarthropathies.

Hum Mol Genet. 2004 Aug 1;13(15):1641-8.

PMID:
15234954
26.

Foetal haemoglobin in normal healthy adults: relationship with polymorphic sequences cis to the beta globin gene.

Zertal-Zidani S, Ducrocq R, Sahbatou M, Satta D, Krishnamoorthy R.

Eur J Hum Genet. 2002 May;10(5):320-6.

27.

Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease.

Hugot JP, Chamaillard M, Zouali H, Lesage S, Cézard JP, Belaiche J, Almer S, Tysk C, O'Morain CA, Gassull M, Binder V, Finkel Y, Cortot A, Modigliani R, Laurent-Puig P, Gower-Rousseau C, Macry J, Colombel JF, Sahbatou M, Thomas G.

Nature. 2001 May 31;411(6837):599-603.

PMID:
11385576
28.

A study of French centenarians: are ACE and APOE associated with longevity?

Blanché H, Cabanne L, Sahbatou M, Thomas G.

C R Acad Sci III. 2001 Feb;324(2):129-35.

PMID:
11280044
29.

The efficiency of genetic analysis of DNA from aged siblings to detect chromosomal regions implicated in longevity.

Nemani M, Sahbatou M, Blanché H, Thomas G, Pascoe L.

Mech Ageing Dev. 2000 Oct 20;119(1-2):25-39.

PMID:
11040399

Supplemental Content

Loading ...
Support Center