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Items: 1 to 50 of 69

1.

Protein-mediated gelation and nano-scale assembly of unfunctionalized hyaluronic acid and chondroitin sulfate.

Tabet A, Park JY, Shilts J, Sokolowski K, Rana VK, Kamp M, Warner N, Hoogland D, Scherman OA.

Version 3. F1000Res. 2018 Nov 20 [revised 2019 Jan 1];7:1827. doi: 10.12688/f1000research.16929.3. eCollection 2018.

2.

Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.

Zawerton A, Mignot C, Sigafoos A, Blackburn PR, Haseeb A, McWalter K, Ichikawa S, Nava C, Keren B, Charles P, Marey I, Tabet AC, Levy J, Perrin L, Hartmann A, Lesca G, Schluth-Bolard C, Monin P, Dupuis-Girod S, Guillen Sacoto MJ, Schnur RE, Zhu Z, Poisson A, El Chehadeh S, Alembik Y, Bruel AL, Lehalle D, Nambot S, Moutton S, Odent S, Jaillard S, Dubourg C, Hilhorst-Hofstee Y, Barbaro-Dieber T, Ortega L, Bhoj EJ, Masser-Frye D, Bird LM, Lindstrom K, Ramsey KM, Narayanan V, Fassi E, Willing M, Cole T, Salter CG, Akilapa R, Vandersteen A, Canham N, Rump P, Gerkes EH, Klein Wassink-Ruiter JS, Bijlsma E, Hoffer MJV, Vargas M, Wojcik A, Cherik F, Francannet C, Rosenfeld JA, Machol K, Scott DA, Bacino CA, Wang X, Clark GD, Bertoli M, Zwolinski S, Thomas RH, Akay E, Chang RC, Bressi R, Sanchez Russo R, Srour M, Russell L, Goyette AE, Dupuis L, Mendoza-Londono R, Karimov C, Joseph M, Nizon M, Cogné B, Kuechler A, Piton A; Deciphering Developmental Disorder Study, Klee EW, Lefebvre V, Clark KJ, Depienne C.

Genet Med. 2019 Oct 3. doi: 10.1038/s41436-019-0657-0. [Epub ahead of print]

PMID:
31578471
3.

Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

Tabet AC, Rolland T, Ducloy M, Lévy J, Buratti J, Mathieu A, Haye D, Perrin L, Dupont C, Passemard S, Capri Y, Verloes A, Drunat S, Keren B, Mignot C, Marey I, Jacquette A, Whalen S, Pipiras E, Benzacken B, Chantot-Bastaraud S, Afenjar A, Héron D, Le Caignec C, Beneteau C, Pichon O, Isidor B, David A, El Khattabi L, Kemeny S, Gouas L, Vago P, Mosca-Boidron AL, Faivre L, Missirian C, Philip N, Sanlaville D, Edery P, Satre V, Coutton C, Devillard F, Dieterich K, Vuillaume ML, Rooryck C, Lacombe D, Pinson L, Gatinois V, Puechberty J, Chiesa J, Lespinasse J, Dubourg C, Quelin C, Fradin M, Journel H, Toutain A, Martin D, Benmansour A, Leblond CS, Toro R, Amsellem F, Delorme R, Bourgeron T.

NPJ Genom Med. 2019 Jul 1;4:16. doi: 10.1038/s41525-019-0090-y. eCollection 2019.

4.

Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis.

Chatron N, Cassinari K, Quenez O, Baert-Desurmont S, Bardel C, Buisine MP, Calpena E, Capri Y, Corominas Galbany J, Diguet F, Edery P, Isidor B, Labalme A, Le Caignec C, Lévy J, Lecoquierre F, Lindenbaum P, Pichon O, Rollat-Farnier PA, Simonet T, Saugier-Veber P, Tabet AC, Toutain A, Wilkie AOM, Lesca G, Sanlaville D, Nicolas G, Schluth-Bolard C.

Hum Mutat. 2019 Nov;40(11):1993-2000. doi: 10.1002/humu.23845. Epub 2019 Jul 12.

PMID:
31230393
5.

Prenatal findings in 1p36 deletion syndrome: New cases and a literature review.

Guterman S, Beneteau C, Redon S, Dupont C, Missirian C, Jaeger P, Herve B, Jacquin C, Douet-Guilbert N, Till M, Tabet AC, Moradkhani K, Malan V, Doco-Fenzy M, Vialard F.

Prenat Diagn. 2019 Sep;39(10):871-882. doi: 10.1002/pd.5498. Epub 2019 Jul 5.

PMID:
31172545
6.

Mechanical Characterization of Human Brain Tissue and Soft Dynamic Gels Exhibiting Electromechanical Neuro-Mimicry.

Tabet A, Mommer S, Vigil JA, Hallou C, Bulstrode H, Scherman OA.

Adv Healthc Mater. 2019 May;8(10):e1900068. doi: 10.1002/adhm.201900068. Epub 2019 Apr 3.

PMID:
30945474
7.

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.

Schluth-Bolard C, Diguet F, Chatron N, Rollat-Farnier PA, Bardel C, Afenjar A, Amblard F, Amiel J, Blesson S, Callier P, Capri Y, Collignon P, Cordier MP, Coubes C, Demeer B, Chaussenot A, Demurger F, Devillard F, Doco-Fenzy M, Dupont C, Dupont JM, Dupuis-Girod S, Faivre L, Gilbert-Dussardier B, Guerrot AM, Houlier M, Isidor B, Jaillard S, Joly-Hélas G, Kremer V, Lacombe D, Le Caignec C, Lebbar A, Lebrun M, Lesca G, Lespinasse J, Levy J, Malan V, Mathieu-Dramard M, Masson J, Masurel-Paulet A, Mignot C, Missirian C, Morice-Picard F, Moutton S, Nadeau G, Pebrel-Richard C, Odent S, Paquis-Flucklinger V, Pasquier L, Philip N, Plutino M, Pons L, Portnoï MF, Prieur F, Puechberty J, Putoux A, Rio M, Rooryck-Thambo C, Rossi M, Sarret C, Satre V, Siffroi JP, Till M, Touraine R, Toutain A, Toutain J, Valence S, Verloes A, Whalen S, Edery P, Tabet AC, Sanlaville D.

J Med Genet. 2019 Aug;56(8):526-535. doi: 10.1136/jmedgenet-2018-105778. Epub 2019 Mar 28.

PMID:
30923172
8.

Designing Next-Generation Local Drug Delivery Vehicles for Glioblastoma Adjuvant Chemotherapy: Lessons from the Clinic.

Tabet A, Jensen MP, Parkins CC, Patil PG, Watts C, Scherman OA.

Adv Healthc Mater. 2019 Feb;8(3):e1801391. doi: 10.1002/adhm.201801391. Epub 2019 Jan 11. Review.

PMID:
30632715
9.

Gels without Vapor Pressure: Soft, Nonaqueous, and Solvent-Free Supramolecular Biomaterials for Prospective Parenteral Drug Delivery Applications.

Tabet A, Wang C.

Adv Healthc Mater. 2019 Mar;8(6):e1800908. doi: 10.1002/adhm.201800908. Epub 2018 Nov 19. Review.

PMID:
30450824
10.

16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations.

Allach El Khattabi L, Heide S, Caberg JH, Andrieux J, Doco Fenzy M, Vincent-Delorme C, Callier P, Chantot-Bastaraud S, Afenjar A, Boute-Benejean O, Cordier MP, Faivre L, Francannet C, Gerard M, Goldenberg A, Masurel-Paulet A, Mosca-Boidron AL, Marle N, Moncla A, Le Meur N, Mathieu-Dramard M, Plessis G, Lesca G, Rossi M, Edery P, Delahaye-Duriez A, De Pontual L, Tabet AC, Lebbar A, Suiro L, Ioos C, Natiq A, Chafai Elalaoui S, Missirian C, Receveur A, François-Fiquet C, Garnier P, Yardin C, Laroche C, Vago P, Sanlaville D, Dupont JM, Benzacken B, Pipiras E.

J Med Genet. 2018 Oct 4. pii: jmedgenet-2018-105389. doi: 10.1136/jmedgenet-2018-105389. [Epub ahead of print]

PMID:
30287593
11.

NR4A2 haploinsufficiency is associated with intellectual disability and autism spectrum disorder.

Lévy J, Grotto S, Mignot C, Maruani A, Delahaye-Duriez A, Benzacken B, Keren B, Haye D, Xavier J, Heulin M, Charles E, Verloes A, Dupont C, Pipiras E, Tabet AC.

Clin Genet. 2018 Aug;94(2):264-268. doi: 10.1111/cge.13383.

PMID:
29770430
12.

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
13.

EFNB2 haploinsufficiency causes a syndromic neurodevelopmental disorder.

Lévy J, Haye D, Marziliano N, Casu G, Guimiot F, Dupont C, Teissier N, Benzacken B, Gressens P, Pipiras E, Verloes A, Tabet AC.

Clin Genet. 2018 Jun;93(6):1141-1147. doi: 10.1111/cge.13234. Epub 2018 Mar 15.

PMID:
29508392
14.

INTU-related oral-facial-digital syndrome type VI: A confirmatory report.

Bruel AL, Levy J, Elenga N, Defo A, Favre A, Lucron H, Capri Y, Perrin L, Passemard S, Vial Y, Tabet AC, Faivre L, Thauvin-Robinet C, Verloes A.

Clin Genet. 2018 Jun;93(6):1205-1209. doi: 10.1111/cge.13238. Epub 2018 Apr 6.

PMID:
29451301
15.

A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

Tabet AC, Rolland T, Ducloy M, Lévy J, Buratti J, Mathieu A, Haye D, Perrin L, Dupont C, Passemard S, Capri Y, Verloes A, Drunat S, Keren B, Mignot C, Marey I, Jacquette A, Whalen S, Pipiras E, Benzacken B, Chantot-Bastaraud S, Afenjar A, Héron D, Le Caignec C, Beneteau C, Pichon O, Isidor B, David A, El Khattabi L, Kemeny S, Gouas L, Vago P, Mosca-Boidron AL, Faivre L, Missirian C, Philip N, Sanlaville D, Edery P, Satre V, Coutton C, Devillard F, Dieterich K, Vuillaume ML, Rooryck C, Lacombe D, Pinson L, Gatinois V, Puechberty J, Chiesa J, Lespinasse J, Dubourg C, Quelin C, Fradin M, Journel H, Toutain A, Martin D, Benmansour A, Leblond CS, Toro R, Amsellem F, Delorme R, Bourgeron T.

NPJ Genom Med. 2017 Oct 23;2:32. doi: 10.1038/s41525-017-0035-2. eCollection 2017. Erratum in: NPJ Genom Med. 2019 Jul 1;4:16.

16.

Quantitative criteria to benchmark new and existing bio-inks for cell compatibility.

Dubbin K, Tabet A, Heilshorn SC.

Biofabrication. 2017 Sep 1;9(4):044102. doi: 10.1088/1758-5090/aa869f.

17.

Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome.

Lévy J, Coussement A, Dupont C, Guimiot F, Baumann C, Viot G, Passemard S, Capri Y, Drunat S, Verloes A, Pipiras E, Benzacken B, Dupont JM, Tabet AC.

Am J Med Genet A. 2017 Aug;173(8):2081-2087. doi: 10.1002/ajmg.a.38302. Epub 2017 Jun 1.

PMID:
28573701
18.

Low-cost, rapidly-developed, 3D printed in vitro corpus callosum model for mucopolysaccharidosis type I.

Tabet A, Gardner M, Swanson S, Crump S, McMeekin A, Gong D, Tabet R, Hacker B, Nestrasil I.

Version 2. F1000Res. 2016 Dec 2 [revised 2017 Jan 1];5:2811. doi: 10.12688/f1000research.9861.2. eCollection 2016.

19.

Remission of acromegaly after treatment withdrawal in patients controlled by cabergoline alone or in combination with octreotide: results from a multicenter study.

Casagrande A, Bronstein MD, Jallad RS, Mota JI, Tabet A, Abucham J.

J Endocrinol Invest. 2017 May;40(5):523-528. doi: 10.1007/s40618-016-0595-5. Epub 2016 Dec 23.

PMID:
28012070
20.

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
21.

Autism spectrum disorders: heterogeneous genetic etiologies

Ducloy M, Tabet AC, Bouvard M, Bourgeron T, Delorme R.

Rev Prat. 2015 Nov;65(9):1179-1182. French.

PMID:
30512507
22.

Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease.

Masliah-Planchon J, Dupont C, Vartzelis G, Trimouille A, Eymard-Pierre E, Gay-Bellile M, Renaldo F, Dorboz I, Pagan C, Quentin S, Elmaleh M, Kotsogianni C, Konstantelou E, Drunat S, Tabet AC, Boespflug-Tanguy O.

BMC Med Genet. 2015 Sep 2;16:77. doi: 10.1186/s12881-015-0226-6.

23.

Correlating solvent dynamics and chemical reaction rates using binary solvent mixtures and two-dimensional infrared spectroscopy.

Jones BH, Huber CJ, Spector IC, Tabet AM, Butler RL, Hang Y, Massari AM.

J Chem Phys. 2015 Jun 7;142(21):212441. doi: 10.1063/1.4920953.

PMID:
26049461
24.

Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies.

Grati FR, Molina Gomes D, Ferreira JC, Dupont C, Alesi V, Gouas L, Horelli-Kuitunen N, Choy KW, García-Herrero S, de la Vega AG, Piotrowski K, Genesio R, Queipo G, Malvestiti B, Hervé B, Benzacken B, Novelli A, Vago P, Piippo K, Leung TY, Maggi F, Quibel T, Tabet AC, Simoni G, Vialard F.

Prenat Diagn. 2015 Aug;35(8):801-9. doi: 10.1002/pd.4613. Epub 2015 Jun 24.

PMID:
25962607
25.

Clinical and molecular delineation of Tetrasomy 9p syndrome: report of 12 new cases and literature review.

El Khattabi L, Jaillard S, Andrieux J, Pasquier L, Perrin L, Capri Y, Benmansour A, Toutain A, Marcorelles P, Vincent-Delorme C, Journel H, Henry C, De Barace C, Devisme L, Dubourg C, Demurger F, Lucas J, Belaud-Rotureau MA, Amiel J, Malan V, De Blois MC, De Pontual L, Lebbar A, Le Dû N, Germain DP, Pinard JM, Pipiras E, Tabet AC, Aboura A, Verloes A.

Am J Med Genet A. 2015 Jun;167(6):1252-61. doi: 10.1002/ajmg.a.36932. Epub 2015 Apr 2. Review.

26.

Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder.

Tabet AC, Verloes A, Pilorge M, Delaby E, Delorme R, Nygren G, Devillard F, Gérard M, Passemard S, Héron D, Siffroi JP, Jacquette A, Delahaye A, Perrin L, Dupont C, Aboura A, Bitoun P, Coleman M, Leboyer M, Gillberg C, Benzacken B, Betancur C.

Mol Autism. 2015 Mar 25;6:19. doi: 10.1186/s13229-015-0015-2. eCollection 2015.

27.

Assessing early-onset hallucinations in the touch-screen generation.

Demeulemeester M, Kochman F, Fligans B, Tabet AJ, Thomas P, Jardri R.

Br J Psychiatry. 2015 Mar;206(3):181-3. doi: 10.1192/bjp.bp.114.154153.

PMID:
25733569
28.

Prenatal phenotype of Williams-Beuren syndrome and of the reciprocal duplication syndrome.

Marcato L, Turolla L, Pompilii E, Dupont C, Gruchy N, De Toffol S, Bracalente G, Bacrot S, Troilo E, Tabet AC, Rossi S, Delezoïde AL, Baldo D, Leporrier N, Maggi F, Molin A, Pilu G, Simoni G, Vialard F, Grati FR.

Clin Case Rep. 2014 Apr;2(2):25-32. doi: 10.1002/ccr3.48. Epub 2014 Feb 6.

29.

Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.

El Khattabi L, Guimiot F, Pipiras E, Andrieux J, Baumann C, Bouquillon S, Delezoide AL, Delobel B, Demurger F, Dessuant H, Drunat S, Dubourg C, Dupont C, Faivre L, Holder-Espinasse M, Jaillard S, Journel H, Lyonnet S, Malan V, Masurel A, Marle N, Missirian C, Moerman A, Moncla A, Odent S, Palumbo O, Palumbo P, Ravel A, Romana S, Tabet AC, Valduga M, Vermelle M, Carella M, Dupont JM, Verloes A, Benzacken B, Delahaye A.

Eur J Hum Genet. 2015 Aug;23(8):1010-8. doi: 10.1038/ejhg.2014.230. Epub 2014 Nov 5.

30.

3D-FISH analysis reveals chromatid cohesion defect during interphase in Roberts syndrome.

Dupont C, Bucourt M, Guimiot F, Kraoua L, Smiljkovski D, Le Tessier D, Lebugle C, Gerard B, Spaggiari E, Bourdoncle P, Tabet AC, Benzacken B, Dupont JM.

Mol Cytogenet. 2014 Sep 30;7(1):59. doi: 10.1186/s13039-014-0059-6. eCollection 2014.

31.

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.

Leblond CS, Nava C, Polge A, Gauthier J, Huguet G, Lumbroso S, Giuliano F, Stordeur C, Depienne C, Mouzat K, Pinto D, Howe J, Lemière N, Durand CM, Guibert J, Ey E, Toro R, Peyre H, Mathieu A, Amsellem F, Rastam M, Gillberg IC, Rappold GA, Holt R, Monaco AP, Maestrini E, Galan P, Heron D, Jacquette A, Afenjar A, Rastetter A, Brice A, Devillard F, Assouline B, Laffargue F, Lespinasse J, Chiesa J, Rivier F, Bonneau D, Regnault B, Zelenika D, Delepine M, Lathrop M, Sanlaville D, Schluth-Bolard C, Edery P, Perrin L, Tabet AC, Schmeisser MJ, Boeckers TM, Coleman M, Sato D, Szatmari P, Scherer SW, Rouleau GA, Betancur C, Leboyer M, Gillberg C, Delorme R, Bourgeron T.

PLoS Genet. 2014 Sep 4;10(9):e1004580. doi: 10.1371/journal.pgen.1004580. eCollection 2014 Sep.

32.

Prenatal diagnosis of 24 cases of microduplication 22q11.2: an investigation of phenotype-genotype correlations.

Dupont C, Grati FR, Choy KW, Jaillard S, Toutain J, Maurin ML, Martínez-Conejero JA, Beneteau C, Coussement A, Molina-Gomes D, Horelli-Kuitunen N, Aboura A, Tabet AC, Besseau-Ayasse J, Bessieres-Grattagliano B, Simoni G, Ayala G, Benzacken B, Vialard F.

Prenat Diagn. 2015 Jan;35(1):35-43. doi: 10.1002/pd.4478. Epub 2014 Sep 16.

PMID:
25118001
33.

De novo deletion of TBL1XR1 in a child with non-specific developmental delay supports its implication in intellectual disability.

Tabet AC, Leroy C, Dupont C, Serrano E, Hernandez K, Gallard J, Pouvreau N, Gadisseux JF, Benzacken B, Verloes A.

Am J Med Genet A. 2014 Sep;164A(9):2335-7. doi: 10.1002/ajmg.a.36619. Epub 2014 May 28.

PMID:
24891185
34.

Duplication of the 15q11-q13 region: clinical and genetic study of 30 new cases.

Al Ageeli E, Drunat S, Delanoë C, Perrin L, Baumann C, Capri Y, Fabre-Teste J, Aboura A, Dupont C, Auvin S, El Khattabi L, Chantereau D, Moncla A, Tabet AC, Verloes A.

Eur J Med Genet. 2014 Jan;57(1):5-14. doi: 10.1016/j.ejmg.2013.10.008. Epub 2013 Nov 12.

PMID:
24239951
35.

COL2A1 gene disruption by a balanced translocation t(12;15)(q13;q22.2) in familial Stickler syndrome.

Dupont C, Baumann C, Le Du N, Schaefer E, Guimiot F, Boutaud L, Capri Y, Spaggiari E, Aboura A, Benzacken B, Tabet AC.

Am J Med Genet A. 2013 Oct;161A(10):2663-5. doi: 10.1002/ajmg.a.36081. Epub 2013 Aug 5. No abstract available.

PMID:
23918474
36.

Temps Présents.

Binoche B, Heilbron J, Bordes F, D'Auria M, Goubet JF, Catteeuw L, Cavaillé JP, Catteeuw L, Tabet A, Pascal F.

Rev Synth. 2013;134(2):291-312. doi: 10.1007/s11873-013-0223-x. French. No abstract available.

PMID:
23892655
37.

Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective study.

Marle N, Martinet D, Aboura A, Joly-Helas G, Andrieux J, Flori E, Puechberty J, Vialard F, Sanlaville D, Fert Ferrer S, Bourrouillou G, Tabet AC, Quilichini B, Simon-Bouy B, Bazin A, Becker M, Stora H, Amblard S, Doco-Fenzy M, Molina Gomes D, Girard-Lemaire F, Cordier MP, Satre V, Schneider A, Lemeur N, Chambon P, Jacquemont S, Fellmann F, Vigouroux-Castera A, Molignier R, Delaye A, Pipiras E, Liquier A, Rousseau T, Mosca AL, Kremer V, Payet M, Rangon C, Mugneret F, Aho S, Faivre L, Callier P.

Clin Genet. 2014 Mar;85(3):233-44. doi: 10.1111/cge.12138. Epub 2013 Apr 5.

PMID:
23489061
38.

Application of a new molecular technique for the genetic evaluation of products of conception.

Grati FR, Gomes DM, Ganesamoorthy D, Marcato L, De Toffol S, Blondeel E, Malvestiti F, Loeuillet L, Ruggeri AM, Wainer R, Maggi F, Aboura A, Dupont C, Tabet AC, Guimiot F, Slater HR, Simoni G, Vialard F.

Prenat Diagn. 2013 Jan;33(1):32-41. doi: 10.1002/pd.4004. Epub 2012 Nov 20.

PMID:
23168908
39.

Nail and phalangeal agenesis in a patient with 4pter and 9pter duplication.

Rambaud J, Marey I, Dupont C, Perrin-Sabourin L, Capri Y, Tabet AC, Benzacken B, Verloes A, Aboura A, Gérard M.

Am J Med Genet A. 2012 Sep;158A(9):2277-82. doi: 10.1002/ajmg.a.35494. Epub 2012 Jul 20.

PMID:
22821638
40.

Parental origin of the X-chromosome does not influence growth hormone treatment effect in Turner syndrome.

Devernay M, Bolca D, Kerdjana L, Aboura A, Gérard B, Tabet AC, Benzacken B, Ecosse E, Coste J, Carel JC.

J Clin Endocrinol Metab. 2012 Jul;97(7):E1241-8. doi: 10.1210/jc.2011-3488. Epub 2012 May 16.

PMID:
22593588
41.

Autistic disorder in patients with Williams-Beuren syndrome: a reconsideration of the Williams-Beuren syndrome phenotype.

Tordjman S, Anderson GM, Botbol M, Toutain A, Sarda P, Carlier M, Saugier-Veber P, Baumann C, Cohen D, Lagneaux C, Tabet AC, Verloes A.

PLoS One. 2012;7(3):e30778. doi: 10.1371/journal.pone.0030778. Epub 2012 Mar 6.

42.

A new lysosomal storage disorder resembling Morquio syndrome in sibs.

Perrin L, Fenneteau O, Ilharreborde B, Capri Y, Gérard M, Quoc EB, Passemard S, Ghoumid J, Caillaud C, Froissart R, Tabet AC, Lebon S, El Ghouzzi V, Mazda K, Verloes A.

Eur J Med Genet. 2012 Mar;55(3):157-62. doi: 10.1016/j.ejmg.2012.01.001. Epub 2012 Jan 25.

PMID:
22330346
43.

Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies.

Delahaye A, Bitoun P, Drunat S, Gérard-Blanluet M, Chassaing N, Toutain A, Verloes A, Gatelais F, Legendre M, Faivre L, Passemard S, Aboura A, Kaltenbach S, Quentin S, Dupont C, Tabet AC, Amselem S, Elion J, Gressens P, Pipiras E, Benzacken B.

Eur J Hum Genet. 2012 May;20(5):527-33. doi: 10.1038/ejhg.2011.233. Epub 2012 Jan 11.

44.

Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother.

Tabet AC, Pilorge M, Delorme R, Amsellem F, Pinard JM, Leboyer M, Verloes A, Benzacken B, Betancur C.

Eur J Hum Genet. 2012 May;20(5):540-6. doi: 10.1038/ejhg.2011.244. Epub 2012 Jan 11. Erratum in: Eur J Hum Genet. 2012 May;20(5):594.

45.

3D position of pericentromeric heterochromatin within the nucleus of a patient with ICF syndrome.

Dupont C, Guimiot F, Perrin L, Marey I, Smiljkovski D, Le Tessier D, Lebugle C, Baumann C, Bourdoncle P, Tabet AC, Aboura A, Benzacken B, Dupont JM.

Clin Genet. 2012 Aug;82(2):187-92. doi: 10.1111/j.1399-0004.2011.01697.x. Epub 2011 Jun 3.

PMID:
21554265
46.

Reducing barriers to ethics in neuroscience.

Illes J, Tairyan K, Federico CA, Tabet A, Glover GH.

Front Hum Neurosci. 2010 Oct 4;4. pii: 167. doi: 10.3389/fnhum.2010.00167. eCollection 2010.

47.

Pairwise network mechanisms in the host signaling response to coxsackievirus B3 infection.

Garmaroudi FS, Marchant D, Si X, Khalili A, Bashashati A, Wong BW, Tabet A, Ng RT, Murphy K, Luo H, Janes KA, McManus BM.

Proc Natl Acad Sci U S A. 2010 Sep 28;107(39):17053-8. doi: 10.1073/pnas.1006478107. Epub 2010 Sep 10.

48.

Paracentric inversion of chromosome 2 associated with cryptic duplication of 2q14 and deletion of 2q37 in a patient with autism.

Devillard F, Guinchat V, Moreno-De-Luca D, Tabet AC, Gruchy N, Guillem P, Nguyen Morel MA, Leporrier N, Leboyer M, Jouk PS, Lespinasse J, Betancur C.

Am J Med Genet A. 2010 Sep;152A(9):2346-54. doi: 10.1002/ajmg.a.33601.

49.

Molecular characterization of a de novo 6q24.2q25.3 duplication interrupting UTRN in a patient with arthrogryposis.

Tabet AC, Aboura A, Gérard M, Pilorge M, Dupont C, Gadisseux JF, Hervy N, Pipiras E, Delahaye A, Kanafani S, Verloes A, Benzacken B, Betancur C.

Am J Med Genet A. 2010 Jul;152A(7):1781-8. doi: 10.1002/ajmg.a.33433.

50.

Ectodermal dysplasia-like syndrome with mental retardation due to contiguous gene deletion: further clinical and molecular delineation of del(2q32) syndrome.

Rifai L, Port-Lis M, Tabet AC, Bailleul-Forestier I, Benzacken B, Drunat S, Kuzbari S, Passemard S, Verloes A, Aboura A.

Am J Med Genet A. 2010 Jan;152A(1):111-7. doi: 10.1002/ajmg.a.33164.

PMID:
20034071

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