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Items: 1 to 20 of 85

1.

New evidence that biallelic loss of function in EEF1B2 gene leads to intellectual disability.

Larcher L, Buratti J, Héron-Longe B, Benzacken B, Pipiras E, Keren B, Delahaye-Duriez A.

Clin Genet. 2020 Apr;97(4):639-643. doi: 10.1111/cge.13688. Epub 2020 Jan 7.

PMID:
31845318
2.

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.

3.

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
4.

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
5.

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
6.

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.

7.

Autosomal recessive primary microcephaly due to ASPM mutations: An update.

Létard P, Drunat S, Vial Y, Duerinckx S, Ernault A, Amram D, Arpin S, Bertoli M, Busa T, Ceulemans B, Desir J, Doco-Fenzy M, Elalaoui SC, Devriendt K, Faivre L, Francannet C, Geneviève D, Gérard M, Gitiaux C, Julia S, Lebon S, Lubala T, Mathieu-Dramard M, Maurey H, Metreau J, Nasserereddine S, Nizon M, Pierquin G, Pouvreau N, Rivier-Ringenbach C, Rossi M, Schaefer E, Sefiani A, Sigaudy S, Sznajer Y, Tunca Y, Guilmin Crepon S, Alberti C, Elmaleh-Bergès M, Benzacken B, Wollnick B, Woods CG, Rauch A, Abramowicz M, El Ghouzzi V, Gressens P, Verloes A, Passemard S.

Hum Mutat. 2018 Mar;39(3):319-332. doi: 10.1002/humu.23381. Epub 2018 Jan 16. Erratum in: Hum Mutat. 2019 Jan;40(1):127.

PMID:
29243349
8.

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
9.

Fetal-maternal chimerism in peritoneal tissue implants after tubal ectopic pregnancy.

Boujenah J, Benzacken B, Pipiras E, Sifer C, Herbemont C, Cornelis F, Bricou A, Poncelet C.

Gynecol Obstet Fertil. 2016 May;44(5):309-10. doi: 10.1016/j.gyobfe.2016.03.012. Epub 2016 Apr 19. No abstract available.

PMID:
27105930
10.

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
11.

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.

12.

Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletion.

Chatron N, Haddad V, Andrieux J, Désir J, Boute O, Dieux A, Baumann C, Drunat S, Gérard M, Bonnet C, Leheup B, Till M, Rossi M, Flori E, Alembik Y, Stewart H, McParland J, Bernardini L, Castelluccio P, Roos L, Tümer Z, Fagan K, Hackett A, Bain N, van Haeringen A, Ruivenkamp C, Benzacken B, Sanlaville D, Edery P, Aboura A, Schluth-Bolard C.

Am J Med Genet A. 2015 May;167A(5):1008-17. doi: 10.1002/ajmg.a.36856. Epub 2015 Feb 25.

PMID:
25728055
13.

Are semen parameters related to birth weight?

Faure C, Dupont C, Chavatte-Palmer P, Gautier B, Levy R; ALIFERT Collaborative Group.

Fertil Steril. 2015 Jan;103(1):6-10. doi: 10.1016/j.fertnstert.2014.11.027.

PMID:
25552408
14.

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.

15.

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.

16.

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
17.

Cerebral small-vessel disease associated with COL4A1 and COL4A2 gene duplications.

Renard D, Miné M, Pipiras E, Labauge P, Delahaye A, Benzacken B, Tournier-Lasserve E.

Neurology. 2014 Sep 9;83(11):1029-31. doi: 10.1212/WNL.0000000000000769. Epub 2014 Aug 6. No abstract available.

PMID:
25098541
18.

[48,XXYY men with azoospermia: how to manage infertility?].

Roche C, Sonigo C, Benmiloud-Tandjaoui N, Boujenah J, Benzacken B, Poncelet C, Hugues JN.

Gynecol Obstet Fertil. 2014 Jul-Aug;42(7-8):528-32. doi: 10.1016/j.gyobfe.2014.05.009. Epub 2014 Jun 13. French.

PMID:
24934769
19.

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
20.

High frequency of X chromosome abnormalities in women with short stature and elevated liver enzymes.

Roulot D, Malan V, Ziol M, Linglart A, Bourcier V, Beaugrand M, Benzacken B.

J Clin Endocrinol Metab. 2014 Aug;99(8):E1592-6. doi: 10.1210/jc.2014-1037. Epub 2014 Apr 14.

PMID:
24731013

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