Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

56 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
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. Leblond CS, et al. Among authors: jacquette a. PLoS Genet. 2014 Sep 4;10(9):e1004580. doi: 10.1371/journal.pgen.1004580. eCollection 2014 Sep. PLoS Genet. 2014. PMID: 25188300 Free PMC article.
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Nava C, Keren B, Mignot C, Rastetter A, Chantot-Bastaraud S, Faudet A, Fonteneau E, Amiet C, Laurent C, Jacquette A, Whalen S, Afenjar A, Périsse D, Doummar D, Dorison N, Leboyer M, Siffroi JP, Cohen D, Brice A, Héron D, Depienne C. Nava C, et al. Among authors: jacquette a. Eur J Hum Genet. 2014 Jan;22(1):71-8. doi: 10.1038/ejhg.2013.88. Epub 2013 May 1. Eur J Hum Genet. 2014. PMID: 23632794 Free PMC article.
Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE.
Nava C, Lamari F, Héron D, Mignot C, Rastetter A, Keren B, Cohen D, Faudet A, Bouteiller D, Gilleron M, Jacquette A, Whalen S, Afenjar A, Périsse D, Laurent C, Dupuits C, Gautier C, Gérard M, Huguet G, Caillet S, Leheup B, Leboyer M, Gillberg C, Delorme R, Bourgeron T, Brice A, Depienne C. Nava C, et al. Among authors: jacquette a. Transl Psychiatry. 2012 Oct 23;2(10):e179. doi: 10.1038/tp.2012.102. Transl Psychiatry. 2012. PMID: 23092983 Free PMC article.
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. Tabet AC, et al. Among authors: jacquette a. Mol Autism. 2015 Mar 25;6:19. doi: 10.1186/s13229-015-0015-2. eCollection 2015. Mol Autism. 2015. PMID: 25844147 Free PMC article.
Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders.
Nava C, Rupp J, Boissel JP, Mignot C, Rastetter A, Amiet C, Jacquette A, Dupuits C, Bouteiller D, Keren B, Ruberg M, Faudet A, Doummar D, Philippe A, Périsse D, Laurent C, Lebrun N, Guillemot V, Chelly J, Cohen D, Héron D, Brice A, Closs EI, Depienne C. Nava C, et al. Among authors: jacquette a. Amino Acids. 2015 Dec;47(12):2647-58. doi: 10.1007/s00726-015-2057-3. Epub 2015 Jul 28. Amino Acids. 2015. PMID: 26215737 Free PMC article.
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. Mignot C, et al. Among authors: jacquette a. Brain. 2016 Nov 1;139(11):e64. doi: 10.1093/brain/aww181. Brain. 2016. PMID: 27474218 No abstract available.
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. Tabet AC, et al. Among authors: jacquette a. NPJ Genom Med. 2017 Oct 23;2:32. doi: 10.1038/s41525-017-0035-2. eCollection 2017. NPJ Genom Med. 2017. PMID: 29263841 Free PMC article.
Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients.
Chérot E, Keren B, Dubourg C, Carré W, Fradin M, Lavillaureix A, Afenjar A, Burglen L, Whalen S, Charles P, Marey I, Heide S, Jacquette A, Heron D, Doummar D, Rodriguez D, Billette de Villemeur T, Moutard ML, Guët A, Xavier J, Périsse D, Cohen D, Demurger F, Quélin C, Depienne C, Odent S, Nava C, David V, Pasquier L, Mignot C. Chérot E, et al. Among authors: jacquette a. Clin Genet. 2018 Mar;93(3):567-576. doi: 10.1111/cge.13102. Epub 2017 Oct 4. Clin Genet. 2018. PMID: 28708303 Free article.
Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum.
Whalen S, Héron D, Gaillon T, Moldovan O, Rossi M, Devillard F, Giuliano F, Soares G, Mathieu-Dramard M, Afenjar A, Charles P, Mignot C, Burglen L, Van Maldergem L, Piard J, Aftimos S, Mancini G, Dias P, Philip N, Goldenberg A, Le Merrer M, Rio M, Josifova D, Van Hagen JM, Lacombe D, Edery P, Dupuis-Girod S, Putoux A, Sanlaville D, Fischer R, Drévillon L, Briand-Suleau A, Metay C, Goossens M, Amiel J, Jacquette A, Giurgea I. Whalen S, et al. Among authors: jacquette a. Hum Mutat. 2012 Jan;33(1):64-72. doi: 10.1002/humu.21639. Epub 2011 Nov 23. Hum Mutat. 2012. PMID: 22045651
Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome.
El Chehadeh S, Aral B, Gigot N, Thauvin-Robinet C, Donzel A, Delrue MA, Lacombe D, David A, Burglen L, Philip N, Moncla A, Cormier-Daire V, Rio M, Edery P, Verloes A, Bonneau D, Afenjar A, Jacquette A, Heron D, Sarda P, Pinson L, Doray B, Vigneron J, Leheup B, Frances-Guidet AM, Dienne G, Holder M, Masurel-Paulet A, Huet F, Teyssier JR, Faivre L. El Chehadeh S, et al. Among authors: jacquette a. J Med Genet. 2010 Aug;47(8):549-53. doi: 10.1136/jmg.2009.075028. J Med Genet. 2010. PMID: 20656880 Free article.
56 results