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Items: 1 to 50 of 91

1.

De novo SCAMP5 mutation causes a neurodevelopmental disorder with autistic features and seizures.

Hubert L, Cannata Serio M, Villoing-Gaudé L, Boddaert N, Kaminska A, Rio M, Lyonnet S, Munnich A, Poirier K, Simons M, Besmond C.

J Med Genet. 2019 Aug 22. pii: jmedgenet-2018-105927. doi: 10.1136/jmedgenet-2018-105927. [Epub ahead of print]

PMID:
31439720
2.

Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizures.

Maljevic S, Keren B, Aung YH, Forster IC, Mignot C, Buratti J, Lafitte A, Freihuber C, Rodan LH, Bergin A, Hubert L, Poirier K, Munnich A, Besmond C, Hauser N, Miller R, McWalter K, Nabbout R, Héron D, Leguern E, Depienne C, Petrou S, Nava C.

Brain. 2019 May 1;142(5):e15. doi: 10.1093/brain/awz079. No abstract available.

PMID:
31032849
3.

Anorexia nervosa is associated with Neuronatin variants.

Lombardi L, Blanchet C, Poirier K, Lebrun N, Ramoz N, Rose Moro M, Gorwood P, Bienvenu T.

Psychiatr Genet. 2019 Aug;29(4):103-110. doi: 10.1097/YPG.0000000000000224.

PMID:
30933048
4.

Effect of Commercially Available Sugar-Sweetened Beverages on Subjective Appetite and Short-Term Food Intake in Boys.

Poirier KL, Totosy de Zepetnek JO, Bennett LJ, Brett NR, Boateng T, Schwartz A, Luhovyy BL, Bellissimo N.

Nutrients. 2019 Jan 26;11(2). pii: E270. doi: 10.3390/nu11020270.

5.

Novel KDM5B splice variants identified in patients with developmental disorders: Functional consequences.

Lebrun N, Mehler-Jacob C, Poirier K, Zordan C, Lacombe D, Carion N, Billuart P, Bienvenu T.

Gene. 2018 Dec 30;679:305-313. doi: 10.1016/j.gene.2018.09.016. Epub 2018 Sep 12.

PMID:
30217758
6.

Effect of Commercially Available Sugar-Sweetened Beverages on Subjective Appetite and Short-Term Food Intake in Girls.

Bennett LJ, Totosy de Zepetnek JO, Brett NR, Poirier K, Guo Q, Rousseau D, Bellissimo N.

Nutrients. 2018 Mar 23;10(4). pii: E394. doi: 10.3390/nu10040394.

7.

WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells.

Cavallin M, Rujano MA, Bednarek N, Medina-Cano D, Bernabe Gelot A, Drunat S, Maillard C, Garfa-Traore M, Bole C, Nitschké P, Beneteau C, Besnard T, Cogné B, Eveillard M, Kuster A, Poirier K, Verloes A, Martinovic J, Bidat L, Rio M, Lyonnet S, Reilly ML, Boddaert N, Jenneson-Liver M, Motte J, Doco-Fenzy M, Chelly J, Attie-Bitach T, Simons M, Cantagrel V, Passemard S, Baffet A, Thomas S, Bahi-Buisson N.

Brain. 2017 Oct 1;140(10):2597-2609. doi: 10.1093/brain/awx218.

PMID:
28969387
8.

Autism spectrum disorder recurrence, resulting of germline mosaicism for a CHD2 gene missense variant.

Lebrun N, Parent P, Gendras J, Billuart P, Poirier K, Bienvenu T.

Clin Genet. 2017 Dec;92(6):669-670. doi: 10.1111/cge.13073. Epub 2017 Sep 28.

PMID:
28960266
9.

Mutations in the novel gene FOPV are associated with familial autosomal dominant and non-familial obliterative portal venopathy.

Besmond C, Valla D, Hubert L, Poirier K, Grosse B, Guettier C, Bernard O, Gonzales E, Jacquemin E.

Liver Int. 2018 Feb;38(2):358-364. doi: 10.1111/liv.13547. Epub 2017 Sep 12.

PMID:
28792652
10.

CSNK2B splice site mutations in patients cause intellectual disability with or without myoclonic epilepsy.

Poirier K, Hubert L, Viot G, Rio M, Billuart P, Besmond C, Bienvenu T.

Hum Mutat. 2017 Aug;38(8):932-941. doi: 10.1002/humu.23270. Epub 2017 Jun 19.

PMID:
28585349
11.

Neuropathological Hallmarks of Brain Malformations in Extreme Phenotypes Related to DYNC1H1 Mutations.

Laquerriere A, Maillard C, Cavallin M, Chapon F, Marguet F, Molin A, Sigaudy S, Blouet M, Benoist G, Fernandez C, Poirier K, Chelly J, Thomas S, Bahi-Buisson N.

J Neuropathol Exp Neurol. 2017 Mar 1;76(3):195-205. doi: 10.1093/jnen/nlw124.

PMID:
28395088
12.

Loss of Function of KCNC1 is associated with intellectual disability without seizures.

Poirier K, Viot G, Lombardi L, Jauny C, Billuart P, Bienvenu T.

Eur J Hum Genet. 2017 May;25(5):560-564. doi: 10.1038/ejhg.2017.3. Epub 2017 Feb 1.

13.

Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia.

Broix L, Jagline H, Ivanova E, Schmucker S, Drouot N, Clayton-Smith J, Pagnamenta AT, Metcalfe KA, Isidor B, Louvier UW, Poduri A, Taylor JC, Tilly P, Poirier K, Saillour Y, Lebrun N, Stemmelen T, Rudolf G, Muraca G, Saintpierre B, Elmorjani A; Deciphering Developmental Disorders study, Moïse M, Weirauch NB, Guerrini R, Boland A, Olaso R, Masson C, Tripathy R, Keays D, Beldjord C, Nguyen L, Godin J, Kini U, Nischké P, Deleuze JF, Bahi-Buisson N, Sumara I, Hinckelmann MV, Chelly J.

Nat Genet. 2016 Nov;48(11):1349-1358. doi: 10.1038/ng.3676. Epub 2016 Oct 3.

14.

Les ratios infirmière/résidents en CHSLD. Pénurie de soins ou pénurie d'infirmières?

Voyer P, Cyr N, Abran MC, Bérubé L, Côté S, Coulombe A, Desrochers A, Joyal C, Jacques I, Lavoie V, Malenfant P, Poirier K, Tremblay S.

Perspect Infirm. 2016 May-Jun;13(3):45-50. French. No abstract available.

PMID:
27400604
15.

De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy.

Laquerriere A, Gonzales M, Saillour Y, Cavallin M, Joyē N, Quēlin C, Bidat L, Dommergues M, Plessis G, Encha-Razavi F, Chelly J, Bahi-Buisson N, Poirier K.

Eur J Med Genet. 2016 Apr;59(4):249-56. doi: 10.1016/j.ejmg.2015.12.007. Epub 2015 Dec 28.

16.

Mosaic parental germline mutations causing recurrent forms of malformations of cortical development.

Zillhardt JL, Poirier K, Broix L, Lebrun N, Elmorjani A, Martinovic J, Saillour Y, Muraca G, Nectoux J, Bessieres B, Fallet-Bianco C, Lyonnet S, Dulac O, Odent S, Rejeb I, Ben Jemaa L, Rivier F, Pinson L, Geneviève D, Musizzano Y, Bigi N, Leboucq N, Giuliano F, Philip N, Vilain C, Van Bogaert P, Maurey H, Beldjord C, Artiguenave F, Boland A, Olaso R, Masson C, Nitschké P, Deleuze JF, Bahi-Buisson N, Chelly J.

Eur J Hum Genet. 2016 Apr;24(4):611-4. doi: 10.1038/ejhg.2015.192. Epub 2015 Sep 23.

17.

Rare ACTG1 variants in fetal microlissencephaly.

Poirier K, Martinovic J, Laquerrière A, Cavallin M, Fallet-Bianco C, Desguerre I, Valence S, Grande-Goburghun J, Francannet C, Deleuze JF, Boland A, Chelly J, Bahi-Buisson N.

Eur J Med Genet. 2015 Aug;58(8):416-8. doi: 10.1016/j.ejmg.2015.06.006. Epub 2015 Jul 16.

PMID:
26188271
18.

Policy outcomes of applying different nutrient profiling systems in recreational sports settings: the case for national harmonization in Canada.

Olstad DL, Poirier K, Naylor PJ, Shearer C, Kirk SF.

Public Health Nutr. 2015 Aug;18(12):2251-62. doi: 10.1017/S1368980014002754. Epub 2014 Dec 4.

PMID:
25471048
19.

Variants in CUL4B are associated with cerebral malformations.

Vulto-van Silfhout AT, Nakagawa T, Bahi-Buisson N, Haas SA, Hu H, Bienek M, Vissers LE, Gilissen C, Tzschach A, Busche A, Müsebeck J, Rump P, Mathijssen IB, Avela K, Somer M, Doagu F, Philips AK, Rauch A, Baumer A, Voesenek K, Poirier K, Vigneron J, Amram D, Odent S, Nawara M, Obersztyn E, Lenart J, Charzewska A, Lebrun N, Fischer U, Nillesen WM, Yntema HG, Järvelä I, Ropers HH, de Vries BB, Brunner HG, van Bokhoven H, Raymond FL, Willemsen MA, Chelly J, Xiong Y, Barkovich AJ, Kalscheuer VM, Kleefstra T, de Brouwer AP.

Hum Mutat. 2015 Jan;36(1):106-17. doi: 10.1002/humu.22718.

20.

Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis.

Ramos-Brossier M, Montani C, Lebrun N, Gritti L, Martin C, Seminatore-Nole C, Toussaint A, Moreno S, Poirier K, Dorseuil O, Chelly J, Hackett A, Gecz J, Bieth E, Faudet A, Heron D, Frank Kooy R, Loeys B, Humeau Y, Sala C, Billuart P.

Hum Mol Genet. 2015 Feb 15;24(4):1106-18. doi: 10.1093/hmg/ddu523. Epub 2014 Oct 9.

21.

Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly.

Fallet-Bianco C, Laquerrière A, Poirier K, Razavi F, Guimiot F, Dias P, Loeuillet L, Lascelles K, Beldjord C, Carion N, Toussaint A, Revencu N, Addor MC, Lhermitte B, Gonzales M, Martinovich J, Bessieres B, Marcy-Bonnière M, Jossic F, Marcorelles P, Loget P, Chelly J, Bahi-Buisson N.

Acta Neuropathol Commun. 2014 Jul 25;2:69. doi: 10.1186/2051-5960-2-69.

22.

The wide spectrum of tubulinopathies: what are the key features for the diagnosis?

Bahi-Buisson N, Poirier K, Fourniol F, Saillour Y, Valence S, Lebrun N, Hully M, Bianco CF, Boddaert N, Elie C, Lascelles K, Souville I; LIS-Tubulinopathies Consortium, Beldjord C, Chelly J.

Brain. 2014 Jun;137(Pt 6):1676-700. doi: 10.1093/brain/awu082.

PMID:
24860126
23.

Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human.

Kielar M, Tuy FP, Bizzotto S, Lebrand C, de Juan Romero C, Poirier K, Oegema R, Mancini GM, Bahi-Buisson N, Olaso R, Le Moing AG, Boutourlinsky K, Boucher D, Carpentier W, Berquin P, Deleuze JF, Belvindrah R, Borrell V, Welker E, Chelly J, Croquelois A, Francis F.

Nat Neurosci. 2014 Jul;17(7):923-33. doi: 10.1038/nn.3729. Epub 2014 May 25.

24.

Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria.

Baulac S, Lenk GM, Dufresnois B, Ouled Amar Bencheikh B, Couarch P, Renard J, Larson PA, Ferguson CJ, Noé E, Poirier K, Hubans C, Ferreira S, Guerrini R, Ouazzani R, El Hachimi KH, Meisler MH, Leguern E.

Neurology. 2014 Mar 25;82(12):1068-75. doi: 10.1212/WNL.0000000000000241. Epub 2014 Mar 5.

25.

The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia.

Curie A, Nazir T, Brun A, Paulignan Y, Reboul A, Delange K, Cheylus A, Bertrand S, Rochefort F, Bussy G, Marignier S, Lacombe D, Chiron C, Cossée M, Leheup B, Philippe C, Laugel V, De Saint Martin A, Sacco S, Poirier K, Bienvenu T, Souville I, Gilbert-Dussardier B, Bieth E, Kauffmann D, Briot P, de Fréminville B, Prieur F, Till M, Rooryck-Thambo C, Mortemousque I, Bobillier-Chaumont I, Toutain A, Touraine R, Sanlaville D, Chelly J, Freeman S, Kong J, Hadjikhani N, Gollub RL, Roy A, des Portes V.

Orphanet J Rare Dis. 2014 Feb 14;9:25. doi: 10.1186/1750-1172-9-25.

26.

Beta tubulin isoforms are not interchangeable for rescuing impaired radial migration due to Tubb3 knockdown.

Saillour Y, Broix L, Bruel-Jungerman E, Lebrun N, Muraca G, Rucci J, Poirier K, Belvindrah R, Francis F, Chelly J.

Hum Mol Genet. 2014 Mar 15;23(6):1516-26. doi: 10.1093/hmg/ddt538. Epub 2013 Oct 30.

PMID:
24179174
27.

Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria.

Valence S, Poirier K, Lebrun N, Saillour Y, Sonigo P, Bessières B, Attié-Bitach T, Benachi A, Masson C, Encha-Razavi F, Chelly J, Bahi-Buisson N.

Neurogenetics. 2013 Nov;14(3-4):215-24. doi: 10.1007/s10048-013-0373-x. Epub 2013 Sep 27.

PMID:
24072599
28.

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.

Poirier K, Lebrun N, Broix L, Tian G, Saillour Y, Boscheron C, Parrini E, Valence S, Pierre BS, Oger M, Lacombe D, Geneviève D, Fontana E, Darra F, Cances C, Barth M, Bonneau D, Bernadina BD, N'guyen S, Gitiaux C, Parent P, des Portes V, Pedespan JM, Legrez V, Castelnau-Ptakine L, Nitschke P, Hieu T, Masson C, Zelenika D, Andrieux A, Francis F, Guerrini R, Cowan NJ, Bahi-Buisson N, Chelly J.

Nat Genet. 2013 Jun;45(6):639-47. doi: 10.1038/ng.2613. Epub 2013 Apr 21. Erratum in: Nat Genet. 2013 Aug;45(8):962.

29.

New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum.

Bahi-Buisson N, Souville I, Fourniol FJ, Toussaint A, Moores CA, Houdusse A, Lemaitre JY, Poirier K, Khalaf-Nazzal R, Hully M, Leger PL, Elie C, Boddaert N, Beldjord C, Chelly J, Francis F; SBH-LIS European Consortium.

Brain. 2013 Jan;136(Pt 1):223-44. doi: 10.1093/brain/aws323.

30.

Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities.

Breuss M, Heng JI, Poirier K, Tian G, Jaglin XH, Qu Z, Braun A, Gstrein T, Ngo L, Haas M, Bahi-Buisson N, Moutard ML, Passemard S, Verloes A, Gressens P, Xie Y, Robson KJ, Rani DS, Thangaraj K, Clausen T, Chelly J, Cowan NJ, Keays DA.

Cell Rep. 2012 Dec 27;2(6):1554-62. doi: 10.1016/j.celrep.2012.11.017. Epub 2012 Dec 13.

31.

Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria.

Poirier K, Saillour Y, Fourniol F, Francis F, Souville I, Valence S, Desguerre I, Marie Lepage J, Boddaert N, Line Jacquemont M, Beldjord C, Chelly J, Bahi-Buisson N.

Eur J Hum Genet. 2013 Apr;21(4):381-5. doi: 10.1038/ejhg.2012.195. Epub 2012 Sep 5.

32.

Mosaic DCX deletion causes subcortical band heterotopia in males.

Quélin C, Saillour Y, Souville I, Poirier K, N'guyen-Morel MA, Vercueil L, Millisher-Bellaiche AE, Boddaert N, Dubois F, Chelly J, Beldjord C, Bahi-Buisson N.

Neurogenetics. 2012 Nov;13(4):367-73. doi: 10.1007/s10048-012-0339-4. Epub 2012 Jul 26.

PMID:
22833188
33.

Focal polymicrogyria are associated with submicroscopic chromosomal rearrangements detected by CGH microarray analysis.

Quelin C, Saillour Y, Poirier K, Roubertie A, Boddaert N, Desguerre I, Letourneur F, Beldjord C, Chelly J, Bahi-Buisson N.

Eur J Med Genet. 2012 Oct;55(10):527-30. doi: 10.1016/j.ejmg.2012.06.004. Epub 2012 Jul 2.

PMID:
22766001
34.

Alcohol advertising at Boston subway stations: an assessment of exposure by race and socioeconomic status.

Gentry E, Poirier K, Wilkinson T, Nhean S, Nyborn J, Siegel M.

Am J Public Health. 2011 Oct;101(10):1936-41. doi: 10.2105/AJPH.2011.300159. Epub 2011 Aug 18.

35.

Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with intellectual disability.

Pagan C, Botros HG, Poirier K, Dumaine A, Jamain S, Moreno S, de Brouwer A, Van Esch H, Delorme R, Launay JM, Tzschach A, Kalscheuer V, Lacombe D, Briault S, Laumonnier F, Raynaud M, van Bon BW, Willemsen MH, Leboyer M, Chelly J, Bourgeron T.

BMC Med Genet. 2011 Jan 20;12:17. doi: 10.1186/1471-2350-12-17.

36.

ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia.

Cossée M, Faivre L, Philippe C, Hichri H, de Saint-Martin A, Laugel V, Bahi-Buisson N, Lemaitre JF, Leheup B, Delobel B, Demeer B, Poirier K, Biancalana V, Pinoit JM, Julia S, Chelly J, Devys D, Mandel JL.

Am J Med Genet A. 2011 Jan;155A(1):98-105. doi: 10.1002/ajmg.a.33785.

PMID:
21204215
37.

Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females.

Depienne C, Trouillard O, Bouteiller D, Gourfinkel-An I, Poirier K, Rivier F, Berquin P, Nabbout R, Chaigne D, Steschenko D, Gautier A, Hoffman-Zacharska D, Lannuzel A, Lackmy-Port-Lis M, Maurey H, Dusser A, Bru M, Gilbert-Dussardier B, Roubertie A, Kaminska A, Whalen S, Mignot C, Baulac S, Lesca G, Arzimanoglou A, LeGuern E.

Hum Mutat. 2011 Jan;32(1):E1959-75. doi: 10.1002/humu.21373.

38.

GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex.

Bahi-Buisson N, Poirier K, Boddaert N, Fallet-Bianco C, Specchio N, Bertini E, Caglayan O, Lascelles K, Elie C, Rambaud J, Baulac M, An I, Dias P, des Portes V, Moutard ML, Soufflet C, El Maleh M, Beldjord C, Villard L, Chelly J.

Brain. 2010 Nov;133(11):3194-209. doi: 10.1093/brain/awq259. Epub 2010 Oct 7.

PMID:
20929962
39.

Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects.

Poirier K, Saillour Y, Bahi-Buisson N, Jaglin XH, Fallet-Bianco C, Nabbout R, Castelnau-Ptakhine L, Roubertie A, Attie-Bitach T, Desguerre I, Genevieve D, Barnerias C, Keren B, Lebrun N, Boddaert N, Encha-Razavi F, Chelly J.

Hum Mol Genet. 2010 Nov 15;19(22):4462-73. doi: 10.1093/hmg/ddq377. Epub 2010 Sep 9.

40.

Human lissencephaly with cerebellar hypoplasia due to mutations in TUBA1A: expansion of the foetal neuropathological phenotype.

Lecourtois M, Poirier K, Friocourt G, Jaglin X, Goldenberg A, Saugier-Veber P, Chelly J, Laquerrière A.

Acta Neuropathol. 2010 Jun;119(6):779-89. doi: 10.1007/s00401-010-0684-z. Epub 2010 Apr 8.

PMID:
20376468
41.

A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation.

Zanni G, van Esch H, Bensalem A, Saillour Y, Poirier K, Castelnau L, Ropers HH, de Brouwer AP, Laumonnier F, Fryns JP, Chelly J.

Neurogenetics. 2010 May;11(2):251-5. doi: 10.1007/s10048-009-0224-y. Epub 2009 Oct 1.

PMID:
19795139
42.

Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria.

Jaglin XH, Poirier K, Saillour Y, Buhler E, Tian G, Bahi-Buisson N, Fallet-Bianco C, Phan-Dinh-Tuy F, Kong XP, Bomont P, Castelnau-Ptakhine L, Odent S, Loget P, Kossorotoff M, Snoeck I, Plessis G, Parent P, Beldjord C, Cardoso C, Represa A, Flint J, Keays DA, Cowan NJ, Chelly J.

Nat Genet. 2009 Jun;41(6):746-52. doi: 10.1038/ng.380. Epub 2009 May 24.

43.

Epileptic encephalopathy in a girl with an interstitial deletion of Xp22 comprising promoter and exon 1 of the CDKL5 gene.

Bahi-Buisson N, Girard B, Gautier A, Nectoux J, Fichou Y, Saillour Y, Poirier K, Chelly J, Bienvenu T.

Am J Med Genet B Neuropsychiatr Genet. 2010 Jan 5;153B(1):202-7. doi: 10.1002/ajmg.b.30974.

PMID:
19455595
44.

Are all models created equal? A content analysis of women in advertisements of fitness versus fashion magazines.

Wasylkiw L, Emms AA, Meuse R, Poirier KF.

Body Image. 2009 Mar;6(2):137-40. doi: 10.1016/j.bodyim.2009.01.005. Epub 2009 Feb 23.

PMID:
19237328
45.

Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females.

Depienne C, Bouteiller D, Keren B, Cheuret E, Poirier K, Trouillard O, Benyahia B, Quelin C, Carpentier W, Julia S, Afenjar A, Gautier A, Rivier F, Meyer S, Berquin P, Hélias M, Py I, Rivera S, Bahi-Buisson N, Gourfinkel-An I, Cazeneuve C, Ruberg M, Brice A, Nabbout R, Leguern E.

PLoS Genet. 2009 Feb;5(2):e1000381. doi: 10.1371/journal.pgen.1000381. Epub 2009 Feb 13. Erratum in: PLoS Genet. 2009 Apr;5(4). doi: 10.1371/annotation/314060d5-06da-46e0-b9e4-57194e8ece3a.

46.

[Epileptogenic brain malformations: radiological and clinical presentation and indications for genetic testing].

Bahi-Buisson N, Boddaert N, Saillour Y, Souville I, Poirier K, Léger PL, Castelnau L, Plouin P, Carion N, Beldjord C, Chelly J.

Rev Neurol (Paris). 2008 Dec;164(12):995-1009. doi: 10.1016/j.neurol.2008.04.006. Epub 2008 Jun 9. Review. French.

PMID:
18808783
47.

Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations.

Bahi-Buisson N, Poirier K, Boddaert N, Saillour Y, Castelnau L, Philip N, Buyse G, Villard L, Joriot S, Marret S, Bourgeois M, Van Esch H, Lagae L, Amiel J, Hertz-Pannier L, Roubertie A, Rivier F, Pinard JM, Beldjord C, Chelly J.

J Med Genet. 2008 Oct;45(10):647-53. doi: 10.1136/jmg.2008.058073. Epub 2008 Aug 26.

PMID:
18728072
48.

Escherichia coli O157:H7 survives within human macrophages: global gene expression profile and involvement of the Shiga toxins.

Poirier K, Faucher SP, Béland M, Brousseau R, Gannon V, Martin C, Harel J, Daigle F.

Infect Immun. 2008 Nov;76(11):4814-22. doi: 10.1128/IAI.00446-08. Epub 2008 Aug 25.

49.

Detection of exonic copy-number changes using a highly efficient oligonucleotide-based comparative genomic hybridization-array method.

Saillour Y, Cossée M, Leturcq F, Vasson A, Beugnet C, Poirier K, Commere V, Sublemontier S, Viel M, Letourneur F, Barbot JC, Deburgrave N, Chelly J, Bienvenu T.

Hum Mutat. 2008 Sep;29(9):1083-90. doi: 10.1002/humu.20829.

PMID:
18683213
50.

Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A.

Fallet-Bianco C, Loeuillet L, Poirier K, Loget P, Chapon F, Pasquier L, Saillour Y, Beldjord C, Chelly J, Francis F.

Brain. 2008 Sep;131(Pt 9):2304-20. doi: 10.1093/brain/awn155. Epub 2008 Jul 18.

PMID:
18669490

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