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Items: 1 to 50 of 245

1.

Functional characterization and phenotypic spectrum of three recurrent disease-causing deep intronic variants of the CFTR gene.

Bergougnoux A, Délétang K, Pommier A, Varilh J, Houriez F, Altieri JP, Koenig M, Férec C, Claustres M, Lalau G, Bienvenu T, Audrézet MP, Pagin A, Girodon E, Raynal C, Taulan-Cadars M.

J Cyst Fibros. 2018 Oct 30. pii: S1569-1993(18)30896-8. doi: 10.1016/j.jcf.2018.10.012. [Epub ahead of print]

PMID:
30389601
2.

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Mignot C, McMahon AC, Bar C, Campeau PM, Davidson C, Buratti J, Nava C, Jacquemont ML, Tallot M, Milh M, Edery P, Marzin P, Barcia G, Barnerias C, Besmond C, Bienvenu T, Bruel AL, Brunga L, Ceulemans B, Coubes C, Cristancho AG, Cunningham F, Dehouck MB, Donner EJ, Duban-Bedu B, Dubourg C, Gardella E, Gauthier J, Geneviève D, Gobin-Limballe S, Goldberg EM, Hagebeuk E, Hamdan FF, Hančárová M, Hubert L, Ioos C, Ichikawa S, Janssens S, Journel H, Kaminska A, Keren B, Koopmans M, Lacoste C, Laššuthová P, Lederer D, Lehalle D, Marjanovic D, Métreau J, Michaud JL, Miller K, Minassian BA, Morales J, Moutard ML, Munnich A, Ortiz-Gonzalez XR, Pinard JM, Prchalová D, Putoux A, Quelin C, Rosen AR, Roume J, Rossignol E, Simon MEH, Smol T, Shur N, Shelihan I, Štěrbová K, Vyhnálková E, Vilain C, Soblet J, Smits G, Yang SP, van der Smagt JJ, van Hasselt PM, van Kempen M, Weckhuysen S, Helbig I, Villard L, Héron D, Koeleman B, Møller RS, Lesca G, Helbig KL, Nabbout R, Verbeek NE, Depienne C.

Genet Med. 2018 Oct 2. doi: 10.1038/s41436-018-0327-7. [Epub ahead of print]

PMID:
30279470
3.

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
4.

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Mignot C, McMahon AC, Bar C, Campeau PM, Davidson C, Buratti J, Nava C, Jacquemont ML, Tallot M, Milh M, Edery P, Marzin P, Barcia G, Barnerias C, Besmond C, Bienvenu T, Bruel AL, Brunga L, Ceulemans B, Coubes C, Cristancho AG, Cunningham F, Dehouck MB, Donner EJ, Duban-Bedu B, Dubourg C, Gardella E, Gauthier J, Geneviève D, Gobin-Limballe S, Goldberg EM, Hagebeuk E, Hamdan FF, Hančárová M, Hubert L, Ioos C, Ichikawa S, Janssens S, Journel H, Kaminska A, Keren B, Koopmans M, Lacoste C, Laššuthová P, Lederer D, Lehalle D, Marjanovic D, Métreau J, Michaud JL, Miller K, Minassian BA, Morales J, Moutard ML, Munnich A, Ortiz-Gonzalez XR, Pinard JM, Prchalová D, Putoux A, Quelin C, Rosen AR, Roume J, Rossignol E, Simon MEH, Smol T, Shur N, Shelihan I, Štěrbová K, Vyhnálková E, Vilain C, Soblet J, Smits G, Yang SP, van der Smagt JJ, van Hasselt PM, van Kempen M, Weckhuysen S, Helbig I, Villard L, Héron D, Koeleman B, Møller RS, Lesca G, Helbig KL, Nabbout R, Verbeek NE, Depienne C.

Genet Med. 2018 Sep 12. doi: 10.1038/s41436-018-0268-1. [Epub ahead of print] Erratum in: Genet Med. 2018 Oct 2;:.

PMID:
30206421
5.

RNA Sequencing and Pathway Analysis Identify Important Pathways Involved in Hypertrichosis and Intellectual Disability in Patients with Wiedemann-Steiner Syndrome.

Mietton L, Lebrun N, Giurgea I, Goldenberg A, Saintpierre B, Hamroune J, Afenjar A, Billuart P, Bienvenu T.

Neuromolecular Med. 2018 Sep;20(3):409-417. doi: 10.1007/s12017-018-8502-1. Epub 2018 Jul 16.

PMID:
30014449
6.

Isolated Nonvisualization of the Fetal Gallbladder Should Be Considered for the Prenatal Diagnosis of Cystic Fibrosis.

Bergougnoux A, Jouannic JM, Verneau F, Bienvenu T, Gaitch N, Raynal C, Girodon E.

Fetal Diagn Ther. 2018 Jun 19:1-5. doi: 10.1159/000489120. [Epub ahead of print]

PMID:
29920495
7.

[MD-PhD trainings in France: overview and future directions, from the French MD/PharmD-PhD students association « AMPS »].

Scherlinger M, Bienvenu TCM, Piffoux M, Séguin P.

Med Sci (Paris). 2018 May;34(5):464-472. doi: 10.1051/medsci/20183405021. Epub 2018 Jun 13. French.

8.

Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.

Miguet M, Faivre L, Amiel J, Nizon M, Touraine R, Prieur F, Pasquier L, Lefebvre M, Thevenon J, Dubourg C, Julia S, Sarret C, Remerand G, Francannet C, Laffargue F, Boespflug-Tanguy O, David A, Isidor B, Vigneron J, Leheup B, Lambert L, Philippe C, Béri-Dexheimer M, Cuisset JM, Andrieux J, Plessis G, Toutain A, Guibaud L, Cormier-Daire V, Rio M, Bonnefont JP, Echenne B, Journel H, Burglen L, Chantot-Bastaraud S, Bienvenu T, Baumann C, Perrin L, Drunat S, Jouk PS, Dieterich K, Devillard F, Lacombe D, Philip N, Sigaudy S, Moncla A, Missirian C, Badens C, Perreton N, Thauvin-Robinet C, AChro-Puce R, Pedespan JM, Rooryck C, Goizet C, Vincent-Delorme C, Duban-Bedu B, Bahi-Buisson N, Afenjar A, Maincent K, Héron D, Alessandri JL, Martin-Coignard D, Lesca G, Rossi M, Raynaud M, Callier P, Mosca-Boidron AL, Marle N, Coutton C, Satre V, Caignec CL, Malan V, Romana S, Keren B, Tabet AC, Kremer V, Scheidecker S, Vigouroux A, Lackmy-Port-Lis M, Sanlaville D, Till M, Carneiro M, Gilbert-Dussardier B, Willems M, Van Esch H, Portes VD, El Chehadeh S.

J Med Genet. 2018 Jun;55(6):359-371. doi: 10.1136/jmedgenet-2017-104956. Epub 2018 Apr 4.

PMID:
29618507
9.

Non-invasive prenatal diagnosis of paternally inherited disorders from maternal plasma: detection of NF1 and CFTR mutations using droplet digital PCR.

Gruber A, Pacault M, El Khattabi LA, Vaucouleur N, Orhant L, Bienvenu T, Girodon E, Vidaud D, Leturcq F, Costa C, Letourneur F, Anselem O, Tsatsaris V, Goffinet F, Viot G, Vidaud M, Nectoux J.

Clin Chem Lab Med. 2018 Apr 25;56(5):728-738. doi: 10.1515/cclm-2017-0689.

PMID:
29613853
10.

Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases.

Baer S, Afenjar A, Smol T, Piton A, Gérard B, Alembik Y, Bienvenu T, Boursier G, Boute O, Colson C, Cordier MP, Cormier-Daire V, Delobel B, Doco-Fenzy M, Duban-Bedu B, Fradin M, Geneviève D, Goldenberg A, Grelet M, Haye D, Heron D, Isidor B, Keren B, Lacombe D, Lèbre AS, Lesca G, Masurel A, Mathieu-Dramard M, Nava C, Pasquier L, Petit A, Philip N, Piard J, Rondeau S, Saugier-Veber P, Sukno S, Thevenon J, Van-Gils J, Vincent-Delorme C, Willems M, Schaefer E, Morin G.

Clin Genet. 2018 Jul;94(1):141-152. doi: 10.1111/cge.13254. Epub 2018 May 17.

PMID:
29574747
11.

Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndrome.

Lebrun N, Giurgea I, Goldenberg A, Dieux A, Afenjar A, Ghoumid J, Diebold B, Mietton L, Briand-Suleau A, Billuart P, Bienvenu T.

Eur J Hum Genet. 2018 Jan;26(1):107-116. doi: 10.1038/s41431-017-0033-y. Epub 2017 Dec 4.

PMID:
29203834
12.

Relationship between foramen magnum position and locomotion in extant and extinct hominoids.

Neaux D, Bienvenu T, Guy F, Daver G, Sansalone G, Ledogar JA, Rae TC, Wroe S, Brunet M.

J Hum Evol. 2017 Dec;113:1-9. doi: 10.1016/j.jhevol.2017.07.009. Epub 2017 Sep 1.

PMID:
29054159
13.

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
14.

DMD and West syndrome.

Cardas R, Iliescu C, Butoianu N, Seferian A, Gataullina S, Gargaun E, Nectoux J, Bienvenu T, Craiu D, Gidaro T, Servais L.

Neuromuscul Disord. 2017 Oct;27(10):911-913. doi: 10.1016/j.nmd.2017.07.008. Epub 2017 Jul 19.

PMID:
28802771
15.

CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.

Claustres M, Thèze C, des Georges M, Baux D, Girodon E, Bienvenu T, Audrezet MP, Dugueperoux I, Férec C, Lalau G, Pagin A, Kitzis A, Thoreau V, Gaston V, Bieth E, Malinge MC, Reboul MP, Fergelot P, Lemonnier L, Mekki C, Fanen P, Bergougnoux A, Sasorith S, Raynal C, Bareil C.

Hum Mutat. 2017 Oct;38(10):1297-1315. doi: 10.1002/humu.23276. Epub 2017 Jun 28.

PMID:
28603918
16.

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
17.

The association of severe encephalopathy and question mark ear is highly suggestive of loss of MEF2C function.

Gordon CT, Tessier A, Demir Z, Goldenberg A, Oufadem M, Voisin N, Pingault V, Bienvenu T, Lyonnet S, de Pontual L, Amiel J.

Clin Genet. 2018 Feb;93(2):356-359. doi: 10.1111/cge.13046. Epub 2017 Sep 8.

PMID:
28456137
18.

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.

19.

DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis.

Viel M, Hubert D, Burgel PR, Génin E, Honoré I, Martinez B, Gaitch N, Chapron J, Kanaan R, Dusser D, Girodon E, Bienvenu T.

Clin Respir J. 2016 Nov;10(6):777-783. doi: 10.1111/crj.12288. Epub 2015 Apr 15.

PMID:
25763772
20.

Fasudil treatment in adult reverses behavioural changes and brain ventricular enlargement in Oligophrenin-1 mouse model of intellectual disability.

Meziane H, Khelfaoui M, Morello N, Hiba B, Calcagno E, Reibel-Foisset S, Selloum M, Chelly J, Humeau Y, Riet F, Zanni G, Herault Y, Bienvenu T, Giustetto M, Billuart P.

Hum Mol Genet. 2016 Jun 1;25(11):2314-2323. Epub 2016 May 4.

21.

Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?

El Chehadeh S, Touraine R, Prieur F, Reardon W, Bienvenu T, Chantot-Bastaraud S, Doco-Fenzy M, Landais E, Philippe C, Marle N, Callier P, Mosca-Boidron AL, Mugneret F, Le Meur N, Goldenberg A, Guerrot AM, Chambon P, Satre V, Coutton C, Jouk PS, Devillard F, Dieterich K, Afenjar A, Burglen L, Moutard ML, Addor MC, Lebon S, Martinet D, Alessandri JL, Doray B, Miguet M, Devys D, Saugier-Veber P, Drunat S, Aral B, Kremer V, Rondeau S, Tabet AC, Thevenon J, Thauvin-Robinet C, Perreton N, Des Portes V, Faivre L.

Clin Genet. 2017 Apr;91(4):576-588. doi: 10.1111/cge.12898. Epub 2017 Feb 16.

PMID:
27761913
22.

Effects of cranial integration on hominid endocranial shape.

Zollikofer CP, Bienvenu T, Ponce de León MS.

J Anat. 2017 Jan;230(1):85-105. doi: 10.1111/joa.12531. Epub 2016 Aug 9.

PMID:
27503252
23.

ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability.

Mignot C, Moutard ML, Rastetter A, Boutaud L, Heide S, Billette T, Doummar D, Garel C, Afenjar A, Jacquette A, Lacombe D, Verloes A, Bole-Feysot C, Nitschké P, Masson C, Faudet A, Lesne F, Bienvenu T, Alby C, Attié-Bitach T, Depienne C, Nava C, Héron D.

Brain. 2016 Nov 1;139(11):e64. doi: 10.1093/brain/aww181. No abstract available.

PMID:
27474218
24.

Brain development is similar in Neanderthals and modern humans.

Ponce de León MS, Bienvenu T, Akazawa T, Zollikofer CP.

Curr Biol. 2016 Jul 25;26(14):R665-6. doi: 10.1016/j.cub.2016.06.022.

25.

Prefrontal neuronal assemblies temporally control fear behaviour.

Dejean C, Courtin J, Karalis N, Chaudun F, Wurtz H, Bienvenu TC, Herry C.

Nature. 2016 Jul 21;535(7612):420-4. Epub 2016 Jul 13.

PMID:
27409809
26.

Droplet digital PCR, a new approach to analyze fetal DNA from maternal blood: application to the determination of fetal RHD genotype.

Orhant L, Rondeau S, Vasson A, Anselem O, Goffinet F, Allach El Khattabi L, Leturcq F, Vidaud D, Bienvenu T, Tsatsaris V, Nectoux J.

Ann Biol Clin (Paris). 2016 Jun 1;74(3):269-77. doi: 10.1684/abc.2016.1139.

PMID:
27237800
27.

CFTR and/or pancreatitis susceptibility genes mutations as risk factors of pancreatitis in cystic fibrosis patients?

Gaitch N, Hubert D, Gameiro C, Burgel PR, Houriez F, Martinez B, Honoré I, Chapron J, Kanaan R, Dusser D, Girodon E, Bienvenu T.

Pancreatology. 2016 Jul-Aug;16(4):515-22. doi: 10.1016/j.pan.2016.03.021. Epub 2016 Apr 5.

PMID:
27086061
28.

Aquagenic Palmoplantar Keratoderma as a CFTR-related Disorder.

Cabrol C, Bienvenu T, Ruaud L, Girodon E, Noacco G, Delobeau M, Fanian F, Richaud-Thiriez B, Van Maldergem L, Aubin F.

Acta Derm Venereol. 2016 Aug 23;96(6):848-9. doi: 10.2340/00015555-2424. No abstract available.

29.

Droplet digital PCR combined with minisequencing, a new approach to analyze fetal DNA from maternal blood: application to the non-invasive prenatal diagnosis of achondroplasia.

Orhant L, Anselem O, Fradin M, Becker PH, Beugnet C, Deburgrave N, Tafuri G, Letourneur F, Goffinet F, Allach El Khattabi L, Leturcq F, Bienvenu T, Tsatsaris V, Nectoux J.

Prenat Diagn. 2016 May;36(5):397-406. doi: 10.1002/pd.4790. Epub 2016 Apr 7.

30.

Turkish cases of early infantile epileptic encephalopathy: two novel mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene.

Gökben S, Serdaroğlu G, Yılmaz S, Bienvenu T, Ceylaner S.

Turk J Pediatr. 2015 May-Jun;57(3):272-6.

PMID:
26701947
31.

[Interest of Droplet digital PCR in non-invasive prenatal testing].

Orhant L, Vasson A, Leturcq F, Vidaud D, Bienvenu T, Nectoux J.

Ann Biol Clin (Paris). 2015 Nov;73 Suppl 1:22-3. doi: 10.1684/abc.2015.1084. French. No abstract available.

PMID:
26620241
32.

Altered microtubule dynamics and vesicular transport in mouse and human MeCP2-deficient astrocytes.

Delépine C, Meziane H, Nectoux J, Opitz M, Smith AB, Ballatore C, Saillour Y, Bennaceur-Griscelli A, Chang Q, Williams EC, Dahan M, Duboin A, Billuart P, Herault Y, Bienvenu T.

Hum Mol Genet. 2016 Jan 1;25(1):146-57. doi: 10.1093/hmg/ddv464. Epub 2015 Nov 24.

33.

Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients.

El Chehadeh S, Faivre L, Mosca-Boidron AL, Malan V, Amiel J, Nizon M, Touraine R, Prieur F, Pasquier L, Callier P, Lefebvre M, Marle N, Dubourg C, Julia S, Sarret C, Francannet C, Laffargue F, Boespflug-Tanguy O, David A, Isidor B, Le Caignec C, Vigneron J, Leheup B, Lambert L, Philippe C, Cuisset JM, Andrieux J, Plessis G, Toutain A, Goldenberg A, Cormier-Daire V, Rio M, Bonnefont JP, Thevenon J, Echenne B, Journel H, Afenjar A, Burglen L, Bienvenu T, Addor MC, Lebon S, Martinet D, Baumann C, Perrin L, Drunat S, Jouk PS, Devillard F, Coutton C, Lacombe D, Delrue MA, Philip N, Moncla A, Badens C, Perreton N, Masurel A, Thauvin-Robinet C, Des Portes V, Guibaud L.

Am J Med Genet A. 2016 Jan;170A(1):116-29. doi: 10.1002/ajmg.a.37384. Epub 2015 Sep 30.

PMID:
26420639
34.

Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A.

Lebrun N, Lebon S, Jeannet PY, Jacquemont S, Billuart P, Bienvenu T.

Am J Med Genet A. 2015 Dec;167A(12):3076-81. doi: 10.1002/ajmg.a.37364. Epub 2015 Sep 11.

PMID:
26358754
35.

Identification of intellectual disability genes showing circadian clock-dependent expression in the mouse hippocampus.

Renaud J, Dumont F, Khelfaoui M, Foisset SR, Letourneur F, Bienvenu T, Khwaja O, Dorseuil O, Billuart P.

Neuroscience. 2015 Nov 12;308:11-50. doi: 10.1016/j.neuroscience.2015.08.066. Epub 2015 Sep 2.

PMID:
26341910
36.

Astrocyte Transcriptome from the Mecp2(308)-Truncated Mouse Model of Rett Syndrome.

Delépine C, Nectoux J, Letourneur F, Baud V, Chelly J, Billuart P, Bienvenu T.

Neuromolecular Med. 2015 Dec;17(4):353-63. doi: 10.1007/s12017-015-8363-9. Epub 2015 Jul 25.

PMID:
26208914
37.

The hsa-miR-125a/hsa-let-7e/hsa-miR-99b cluster is potentially implicated in Cystic Fibrosis pathogenesis.

Endale Ahanda ML, Bienvenu T, Sermet-Gaudelus I, Mazzolini L, Edelman A, Zoorob R, Davezac N.

J Cyst Fibros. 2015 Sep;14(5):571-9. doi: 10.1016/j.jcf.2015.02.011. Epub 2015 Mar 21.

38.

Large intercalated neurons of amygdala relay noxious sensory information.

Bienvenu TC, Busti D, Micklem BR, Mansouri M, Magill PJ, Ferraguti F, Capogna M.

J Neurosci. 2015 Feb 4;35(5):2044-57. doi: 10.1523/JNEUROSCI.1323-14.2015.

39.

Differential Expression and Regulation of Brain-Derived Neurotrophic Factor (BDNF) mRNA Isoforms in Brain Cells from Mecp2(308/y) Mouse Model.

Rousseaud A, Delépine C, Nectoux J, Billuart P, Bienvenu T.

J Mol Neurosci. 2015 Aug;56(4):758-767. doi: 10.1007/s12031-014-0487-0. Epub 2015 Jan 30.

PMID:
25634725
40.

Small-scale high-throughput sequencing-based identification of new therapeutic tools in cystic fibrosis.

Bonini J, Varilh J, Raynal C, Thèze C, Beyne E, Audrezet MP, Ferec C, Bienvenu T, Girodon E, Tuffery-Giraud S, Des Georges M, Claustres M, Taulan-Cadars M.

Genet Med. 2015 Oct;17(10):796-806. doi: 10.1038/gim.2014.194. Epub 2015 Jan 8.

PMID:
25569440
41.

WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation.

Mignot C, Lambert L, Pasquier L, Bienvenu T, Delahaye-Duriez A, Keren B, Lefranc J, Saunier A, Allou L, Roth V, Valduga M, Moustaïne A, Auvin S, Barrey C, Chantot-Bastaraud S, Lebrun N, Moutard ML, Nougues MC, Vermersch AI, Héron B, Pipiras E, Héron D, Olivier-Faivre L, Guéant JL, Jonveaux P, Philippe C.

J Med Genet. 2015 Jan;52(1):61-70. doi: 10.1136/jmedgenet-2014-102748. Epub 2014 Nov 19.

PMID:
25411445
42.

Poor survival in rheumatoid arthritis associated with bronchiectasis: a family-based cohort study.

Puéchal X, Génin E, Bienvenu T, Le Jeunne C, Dusser DJ.

PLoS One. 2014 Oct 13;9(10):e110066. doi: 10.1371/journal.pone.0110066. eCollection 2014.

43.

A case of Lennox-Gastaut syndrome in a patient with FOXG1-related disorder.

Terrone G, Bienvenu T, Germanaud D, Barthez-Carpentier MA, Diebold B, Delanoe C, Passemard S, Auvin S.

Epilepsia. 2014 Nov;55(11):e116-9. doi: 10.1111/epi.12800. Epub 2014 Sep 29.

44.

Flagellin concentrations in expectorations from cystic fibrosis patients.

Balloy V, Thévenot G, Bienvenu T, Morand P, Corvol H, Clement A, Ramphal R, Hubert D, Chignard M.

BMC Pulm Med. 2014 Jun 9;14:100. doi: 10.1186/1471-2466-14-100.

45.

Somatic mosaicism for a FOXG1 mutation: diagnostic implication.

Diebold B, Délepine C, Nectoux J, Bahi-Buisson N, Parent P, Bienvenu T.

Clin Genet. 2014 Jun;85(6):589-91. doi: 10.1111/cge.12212. Epub 2013 Jun 24. No abstract available.

PMID:
24766421
46.

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.

47.

p.Arg75Gln, a CFTR variant involved in the risk of CFTR-related disorders?

Martinez B, Heller M, Gaitch N, Hubert D, Burgel PR, Levy P, Girodon E, Bienvenu T.

J Hum Genet. 2014 Apr;59(4):206-10. doi: 10.1038/jhg.2014.2. Epub 2014 Jan 23.

PMID:
24451227
48.

Characterization of SLC26A9 in patients with CF-like lung disease.

Bakouh N, Bienvenu T, Thomas A, Ehrenfeld J, Liote H, Roussel D, Duquesnoy P, Farman N, Viel M, Cherif-Zahar B, Amselem S, Taam RA, Edelman A, Planelles G, Sermet-Gaudelus I.

Hum Mutat. 2013 Oct;34(10):1404-14. doi: 10.1002/humu.22382. Epub 2013 Aug 13.

PMID:
24272871
49.

Prefrontal parvalbumin interneurons shape neuronal activity to drive fear expression.

Courtin J, Chaudun F, Rozeske RR, Karalis N, Gonzalez-Campo C, Wurtz H, Abdi A, Baufreton J, Bienvenu TC, Herry C.

Nature. 2014 Jan 2;505(7481):92-6. doi: 10.1038/nature12755. Epub 2013 Nov 20.

PMID:
24256726
50.

Evolution, development, and plasticity of the human brain: from molecules to bones.

Hrvoj-Mihic B, Bienvenu T, Stefanacci L, Muotri AR, Semendeferi K.

Front Hum Neurosci. 2013 Oct 30;7:707. doi: 10.3389/fnhum.2013.00707. Review.

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