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Items: 1 to 50 of 261

1.

The intellectual disability protein Oligophrenin-1 controls astrocyte morphology and migration.

Pillet LE, Cresto N, Saillour Y, Ghézali G, Bemelmans AP, Livet J, Bienvenu T, Rouach N, Billuart P.

Glia. 2020 Feb 19. doi: 10.1002/glia.23801. [Epub ahead of print]

PMID:
32073702
2.

MeCP2 is involved in random mono-allelic expression for a subset of human autosomal genes.

Brousseau M, Nectoux J, Saintpierre B, Lebrun N, Cagnard N, Izac B, Olivier E, Letourneur F, Bienvenu T.

Biochim Biophys Acta Mol Basis Dis. 2020 Feb 15:165730. doi: 10.1016/j.bbadis.2020.165730. [Epub ahead of print]

PMID:
32070770
3.

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature.

Nambot S, Faivre L, Mirzaa G, Thevenon J, Bruel AL, Mosca-Boidron AL, Masurel-Paulet A, Goldenberg A, Le Meur N, Charollais A, Mignot C, Petit F, Rossi M, Metreau J, Layet V, Amram D, Boute-Bénéjean O, Bhoj E, Cousin MA, Kruisselbrink TM, Lanpher BC, Klee EW, Fiala E, Grange DK, Meschino WS, Hiatt SM, Cooper GM, Olivié H, Smith WE, Dumas M, Lehman A; CAUSES Study, Inglese C, Nizon M, Guerrini R, Vetro A, Kaplan ES, Miramar D, Van Gils J, Fergelot P, Bodamer O, Herkert JC, Pajusalu S, Õunap K, Filiano JJ, Smol T, Piton A, Gérard B, Chantot-Bastaraud S, Bienvenu T, Li D, Juusola J, Devriendt K, Bilan F, Poé C, Chevarin M, Jouan T, Tisserant E, Rivière JB, Tran Mau-Them F, Philippe C, Duffourd Y, Dobyns WB, Hevner R, Thauvin-Robinet C.

Eur J Hum Genet. 2020 Jan 31. doi: 10.1038/s41431-020-0571-6. [Epub ahead of print]

PMID:
32005960
4.

Novel ADGRG2 truncating variants in patients with X-linked congenital absence of vas deferens.

Pagin A, Bergougnoux A, Girodon E, Reboul MP, Willoquaux C, Kesteloot M, Raynal C, Bienvenu T, Humbert M, Lalau G, Bieth E.

Andrology. 2019 Dec 17. doi: 10.1111/andr.12744. [Epub ahead of print]

PMID:
31845523
5.

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

Mak CCY, Doherty D, Lin AE, Vegas N, Cho MT, Viot G, Dimartino C, Weisfeld-Adams JD, Lessel D, Joss S, Li C, Gonzaga-Jauregui C, Zarate YA, Ehmke N, Horn D, Troyer C, Kant SG, Lee Y, Ishak GE, Leung G, Barone Pritchard A, Yang S, Bend EG, Filippini F, Roadhouse C, Lebrun N, Mehaffey MG, Martin PM, Apple B, Millan F, Puk O, Hoffer MJV, Henderson LB, McGowan R, Wentzensen IM, Pei S, Zahir FR, Yu M, Gibson WT, Seman A, Steeves M, Murrell JR, Luettgen S, Francisco E, Strom TM, Amlie-Wolf L, Kaindl AM, Wilson WG, Halbach S, Basel-Salmon L, Lev-El N, Denecke J, Vissers LELM, Radtke K, Chelly J, Zackai E, Friedman JM, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics, Reid RR, Devriendt K, Chae JH, Stolerman E, McDougall C, Powis Z, Bienvenu T, Tan TY, Orenstein N, Dobyns WB, Shieh JT, Choi M, Waggoner D, Gripp KW, Parker MJ, Stoler J, Lyonnet S, Cormier-Daire V, Viskochil D, Hoffman TL, Amiel J, Chung BHY, Gordon CT.

Brain. 2020 Jan 1;143(1):55-68. doi: 10.1093/brain/awz379.

PMID:
31834374
6.

De novo deleterious variants that may alter the dopaminergic reward pathway are associated with anorexia nervosa.

Bienvenu T, Lebrun N, Clarke J, Duriez P, Gorwood P, Ramoz N.

Eat Weight Disord. 2019 Oct 29. doi: 10.1007/s40519-019-00802-9. [Epub ahead of print]

PMID:
31664672
7.

Exome sequencing in a familial form of anorexia nervosa supports multigenic etiology.

Bienvenu T, Lebrun N, Clarke J, Duriez P, Gorwood P, Ramoz N.

J Neural Transm (Vienna). 2019 Nov;126(11):1505-1511. doi: 10.1007/s00702-019-02056-2. Epub 2019 Aug 6.

PMID:
31388831
8.

Pitfalls in the interpretation of CFTR variants in the context of incidental findings.

Boussaroque A, Bergougnoux A, Raynal C, Audrézet MP, Sasorith S, Férec C, Bienvenu T, Girodon E.

Hum Mutat. 2019 Dec;40(12):2239-2246. doi: 10.1002/humu.23884. Epub 2019 Aug 26.

PMID:
31350925
9.

CFTR gene variants: a predisposition factor to aquagenic palmoplantar keratoderma.

Raynal C, Girodon E, Audrezet MP, Cabet F, Pagin A, Reboul MP, Dufernez F, Fergelot P, Bergougnoux A, Fanen P, Ferec C, Bienvenu T.

Br J Dermatol. 2019 Nov;181(5):1097-1099. doi: 10.1111/bjd.18162. Epub 2019 Aug 19. No abstract available.

PMID:
31310009
10.

Rheumatoid arthritis-associated bronchiectasis.

Puéchal X, Bienvenu T, Dusser D.

Lancet. 2019 May 18;393(10185):2035-2036. doi: 10.1016/S0140-6736(19)30020-0. No abstract available.

PMID:
31106745
11.

Analysis of the Phenotypes in the Rett Networked Database.

Frullanti E, Papa FT, Grillo E, Clarke A, Ben-Zeev B, Pineda M, Bahi-Buisson N, Bienvenu T, Armstrong J, Roche Martinez A, Mari F, Nissenkorn A, Lo Rizzo C, Veneselli E, Russo S, Vignoli A, Pini G, Djuric M, Bisgaard AM, Ravn K, Bosnjak VM, Hayek J, Khajuria R, Montomoli B, Cogliati F, Pintaudi M, Hadzsiev K, Craiu D, Voinova V, Djukic A, Villard L, Renieri A.

Int J Genomics. 2019 Mar 27;2019:6956934. doi: 10.1155/2019/6956934. eCollection 2019.

12.

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
13.

New insights in phenomenology and treatment of epilepsy in CDKL5 encephalopathy.

Melikishvili G, Epitashvili N, Tabatadze N, Chikvinidze G, Dulac O, Bienvenu T, Gataullina S.

Epilepsy Behav. 2019 May;94:308-311. doi: 10.1016/j.yebeh.2019.02.013. Epub 2019 Mar 18.

PMID:
30898514
14.

Gene mutations in paediatric epilepsies cause NMDA-pathy, and phasic and tonic GABA-pathy.

Gataullina S, Bienvenu T, Nabbout R, Huberfeld G, Dulac O.

Dev Med Child Neurol. 2019 Aug;61(8):891-898. doi: 10.1111/dmcn.14152. Epub 2019 Jan 25. Review.

PMID:
30680721
15.

Both rare and common genetic variants contribute to autism in the Faroe Islands.

Leblond CS, Cliquet F, Carton C, Huguet G, Mathieu A, Kergrohen T, Buratti J, Lemière N, Cuisset L, Bienvenu T, Boland A, Deleuze JF, Stora T, Biskupstoe R, Halling J, Andorsdóttir G, Billstedt E, Gillberg C, Bourgeron T.

NPJ Genom Med. 2019 Jan 21;4:1. doi: 10.1038/s41525-018-0075-2. eCollection 2019.

16.

Delineating FOXG1 syndrome: From congenital microcephaly to hyperkinetic encephalopathy.

Vegas N, Cavallin M, Maillard C, Boddaert N, Toulouse J, Schaefer E, Lerman-Sagie T, Lev D, Magalie B, Moutton S, Haan E, Isidor B, Heron D, Milh M, Rondeau S, Michot C, Valence S, Wagner S, Hully M, Mignot C, Masurel A, Datta A, Odent S, Nizon M, Lazaro L, Vincent M, Cogné B, Guerrot AM, Arpin S, Pedespan JM, Caubel I, Pontier B, Troude B, Rivier F, Philippe C, Bienvenu T, Spitz MA, Bery A, Bahi-Buisson N.

Neurol Genet. 2018 Nov 7;4(6):e281. doi: 10.1212/NXG.0000000000000281. eCollection 2018 Dec.

17.

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. 2019 Jul;18(4):468-475. doi: 10.1016/j.jcf.2018.10.012. Epub 2018 Oct 30.

PMID:
30389601
18.

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. 2019 Aug;21(8):1897-1898. doi: 10.1038/s41436-018-0327-7.

PMID:
30279470
19.

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
20.

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. 2019 Apr;21(4):837-849. doi: 10.1038/s41436-018-0268-1. Epub 2018 Sep 12. Erratum in: Genet Med. 2018 Oct 2;:.

21.

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
22.

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. 2019;45(5):312-316. doi: 10.1159/000489120. Epub 2018 Jun 19.

PMID:
29920495
23.

[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.

24.

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
25.

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
26.

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. Review.

PMID:
29574747
27.

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.

28.

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
29.

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
30.

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
31.

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
32.

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
33.

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
34.

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.

35.

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
36.

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.

37.

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
38.

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.

39.

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
40.

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.

41.

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
42.

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.

43.

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
44.

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.

45.

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.

46.

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
47.

[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
48.

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

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