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Items: 1 to 50 of 79

1.

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.

2.

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
3.

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
4.

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
5.

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.

6.

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
7.

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
8.

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
9.

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
10.

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.

11.

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
12.

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.

13.

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.

14.

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
15.

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
16.

[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
17.

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
18.

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
19.

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
20.

Obesity leads to higher risk of sperm DNA damage in infertile patients.

Dupont C, Faure C, Sermondade N, Boubaya M, Eustache F, Clément P, Briot P, Berthaut I, Levy V, Cedrin-Durnerin I, Benzacken B, Chavatte-Palmer P, Levy R.

Asian J Androl. 2013 Sep;15(5):622-5. doi: 10.1038/aja.2013.65. Epub 2013 Jun 24.

21.

Spontaneous conception after autologous hematopoietic stem cell transplantation: a case report.

Dupont C, Bally C, Eustache F, Sermondade N, Benzacken B, Fenaux P, Lévy R.

Asian J Androl. 2013 Jan;15(1):155-6. doi: 10.1038/aja.2012.119. Epub 2012 Dec 10. No abstract available.

22.

Pre- and postnatal phenotype of 6p25 deletions involving the FOXC1 gene.

Delahaye A, Khung-Savatovsky S, Aboura A, Guimiot F, Drunat S, Alessandri JL, Gérard M, Bitoun P, Boumendil J, Robin S, Huel C, Guilherme R, Serero S, Gressens P, Elion J, Verloes A, Benzacken B, Delezoide AL, Pipiras E.

Am J Med Genet A. 2012 Oct;158A(10):2430-8. doi: 10.1002/ajmg.a.35548. Epub 2012 Aug 17.

PMID:
22903608
23.

Identification of a new recurrent aurora kinase C mutation in both European and African men with macrozoospermia.

Ben Khelifa M, Coutton C, Blum MG, Abada F, Harbuz R, Zouari R, Guichet A, May-Panloup P, Mitchell V, Rollet J, Triki C, Merdassi G, Vialard F, Koscinski I, Viville S, Keskes L, Soulie JP, Rives N, Dorphin B, Lestrade F, Hesters L, Poirot C, Benzacken B, Jouk PS, Satre V, Hennebicq S, Arnoult C, Lunardi J, Ray PF.

Hum Reprod. 2012 Nov;27(11):3337-46. doi: 10.1093/humrep/des296. Epub 2012 Aug 11.

PMID:
22888167
24.

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
25.

Chromosomal microarray analysis in ocular developmental anomalies.

Delahaye A, Pipiras E, Benzacken B.

Expert Rev Mol Diagn. 2012 Jun;12(5):425-7. doi: 10.1586/erm.12.41. No abstract available.

PMID:
22702357
26.

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
27.

Prenatal BACs-on-Beads™: the prospective experience of five prenatal diagnosis laboratories.

Vialard F, Simoni G, Gomes DM, Abourra A, De Toffol S, Bru F, Martinez Romero MC, Nitsch L, Bouhanna P, Marcato L, Popowski T, Grimi B, Martínez-Conejero JA, Benzacken B, Genesio R, Grati FR.

Prenat Diagn. 2012 Apr;32(4):329-35. doi: 10.1002/pd.2934.

PMID:
22467163
28.

Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.

Lamb AN, Rosenfeld JA, Neill NJ, Talkowski ME, Blumenthal I, Girirajan S, Keelean-Fuller D, Fan Z, Pouncey J, Stevens C, Mackay-Loder L, Terespolsky D, Bader PI, Rosenbaum K, Vallee SE, Moeschler JB, Ladda R, Sell S, Martin J, Ryan S, Jones MC, Moran R, Shealy A, Madan-Khetarpal S, McConnell J, Surti U, Delahaye A, Heron-Longe B, Pipiras E, Benzacken B, Passemard S, Verloes A, Isidor B, Le Caignec C, Glew GM, Opheim KE, Descartes M, Eichler EE, Morton CC, Gusella JF, Schultz RA, Ballif BC, Shaffer LG.

Hum Mutat. 2012 Apr;33(4):728-40. doi: 10.1002/humu.22037.

29.

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.

30.

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.

31.

[Outcome of embryo vitrification compared to slow freezing process at early cleavage stages. Report of the first French birth].

Sifer C, Sermondade N, Dupont C, Poncelet C, Cédrin-Durnerin I, Hugues JN, Benzacken B, Levy R.

Gynecol Obstet Fertil. 2012 Mar;40(3):158-61. doi: 10.1016/j.gyobfe.2011.10.004. Epub 2011 Dec 7. French.

PMID:
22154672
32.

Successful childbirth after intracytoplasmic morphologically selected sperm injection without assisted oocyte activation in a patient with globozoospermia.

Sermondade N, Hafhouf E, Dupont C, Bechoua S, Palacios C, Eustache F, Poncelet C, Benzacken B, Lévy R, Sifer C.

Hum Reprod. 2011 Nov;26(11):2944-9. doi: 10.1093/humrep/der258. Epub 2011 Aug 19.

PMID:
21857011
33.

What can we learn from old microdeletion syndromes using array-CGH screening?

Mosca-Boidron AL, Bouquillon S, Faivre L, Callier P, Andrieux J, Marle N, Bonnet C, Vincent-Delorme C, Berri M, Plessis G, Manouvrier-Hanu S, Dieux-Coeslier A, Thauvin-Robinet C, Pipiras E, Delahaye A, Payet M, Ragon C, Masurel-Paulet A, Questiaux E, Benzacken B, Jonveaux P, Mugneret F, Holder-Espinasse M.

Clin Genet. 2012 Jul;82(1):41-7. doi: 10.1111/j.1399-0004.2011.01747.x. Epub 2011 Jul 26.

PMID:
21722100
34.

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
35.

Prenatal BACs-on-Beads™ : a new technology for rapid detection of aneuploidies and microdeletions in prenatal diagnosis.

Vialard F, Simoni G, Aboura A, De Toffol S, Molina Gomes D, Marcato L, Serero S, Clement P, Bouhanna P, Rouleau E, Grimi B, Selva J, Gaetani E, Maggi F, Joseph A, Benzacken B, Grati FR.

Prenat Diagn. 2011 May;31(5):500-8. doi: 10.1002/pd.2727. Epub 2011 Mar 14.

PMID:
21404304
36.

Biological predictive criteria for clinical pregnancy after elective single embryo transfer.

Sifer C, Sermondade N, Poncelet C, Hafhouf E, Porcher R, Cedrin-Durnerin I, Benzacken B, Levy R, Hugues JN.

Fertil Steril. 2011 Jan;95(1):427-30. doi: 10.1016/j.fertnstert.2010.07.1055.

PMID:
20810106
37.

Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1: four additional patients.

Schiff M, Delahaye A, Andrieux J, Sanlaville D, Vincent-Delorme C, Aboura A, Benzacken B, Bouquillon S, Elmaleh-Berges M, Labalme A, Passemard S, Perrin L, Manouvrier-Hanu S, Edery P, Verloes A, Drunat S.

Eur J Med Genet. 2010 Sep-Oct;53(5):303-8. doi: 10.1016/j.ejmg.2010.06.009. Epub 2010 Jul 3.

PMID:
20599530
38.

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.

39.

Should all embryos from day 1 rescue intracytoplasmic sperm injection be transferred during frozen-thawed cycles?

Sermondade N, Hugues JN, Cedrin-Durnerin I, Poncelet C, Benzacken B, Lévy R, Sifer C.

Fertil Steril. 2010 Aug;94(3):1157-8. doi: 10.1016/j.fertnstert.2009.12.001. Epub 2010 Jan 15.

PMID:
20079894
40.

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
41.

Abnormal muscle development of the diaphragm in a fetus with 2p14-p16 duplication.

Guilherme R, Guimiot F, Tabet AC, Khung-Savatovsky S, Gauthier E, Nouchy M, Benzacken B, Verloes A, Oury JF, Delezoide AL, Aboura A.

Am J Med Genet A. 2009 Dec;149A(12):2892-7. doi: 10.1002/ajmg.a.33135. No abstract available.

PMID:
19938079
42.

An auto-controlled prospective comparison of two embryos culture media (G III series versus ISM) for IVF and ICSI treatments.

Sifer C, Handelsman D, Grange E, Porcher R, Poncelet C, Martin-Pont B, Benzacken B, Wolf JP.

J Assist Reprod Genet. 2009 Nov-Dec;26(11-12):575-81. doi: 10.1007/s10815-009-9357-z. Epub 2009 Nov 11.

43.

Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series.

Jaillard S, Drunat S, Bendavid C, Aboura A, Etcheverry A, Journel H, Delahaye A, Pasquier L, Bonneau D, Toutain A, Burglen L, Guichet A, Pipiras E, Gilbert-Dussardier B, Benzacken B, Martin-Coignard D, Henry C, David A, Lucas J, Mosser J, David V, Odent S, Verloes A, Dubourg C.

Eur J Med Genet. 2010 Mar-Apr;53(2):66-75. doi: 10.1016/j.ejmg.2009.10.002. Epub 2009 Oct 28.

PMID:
19878743
44.

[Is there an interest in the addition of hyaluronan to human embryo culture in IVF/ICSI attempts?].

Sifer C, Mour P, Tranchant S, Visentin E, Hafhouf E, Sermondade N, Martin-Pont B, Benzacken B, Lévy R.

Gynecol Obstet Fertil. 2009 Nov-Dec;37(11-12):884-9. doi: 10.1016/j.gyobfe.2009.09.017. Epub 2009 Oct 12. French.

PMID:
19819748
45.

A prospective randomized study to compare four different mineral oils used to culture human embryos in IVF/ICSI treatments.

Sifer C, Pont JC, Porcher R, Martin-Pont B, Benzacken B, Wolf JP.

Eur J Obstet Gynecol Reprod Biol. 2009 Nov;147(1):52-6. doi: 10.1016/j.ejogrb.2009.06.023. Epub 2009 Jul 16.

PMID:
19615809
46.

Chromosome 22q13.3 deletion syndrome with a de novo interstitial 22q13.3 cryptic deletion disrupting SHANK3.

Delahaye A, Toutain A, Aboura A, Dupont C, Tabet AC, Benzacken B, Elion J, Verloes A, Pipiras E, Drunat S.

Eur J Med Genet. 2009 Sep-Oct;52(5):328-32. doi: 10.1016/j.ejmg.2009.05.004. Epub 2009 May 18.

PMID:
19454329
47.

First cryptic balanced reciprocal translocation mosaicism and familial transmission.

Dupont C, Delahaye A, Burglen L, Tabet AC, Aboura A, Kanafani S, Baverel F, de Villemeur TB, Benzacken B, Pipiras E.

Am J Med Genet A. 2008 Nov 15;146A(22):2971-4. doi: 10.1002/ajmg.a.32547. No abstract available.

PMID:
18925677
48.

2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?

Jaillard S, Dubourg C, Gérard-Blanluet M, Delahaye A, Pasquier L, Dupont C, Henry C, Tabet AC, Lucas J, Aboura A, David V, Benzacken B, Odent S, Pipiras E.

J Med Genet. 2009 Dec;46(12):847-55. doi: 10.1136/jmg.2008.058156. Epub 2008 Sep 23.

49.

Partial trisomy of chromosome 22 resulting from a supernumerary marker chromosome 22 in a child with features of cat eye syndrome.

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