http://publicationslist.org/data/frederique.bena/atom.xml Bena frederiquehttp://publicationslist.org/frederique.bena$basepathfavicon.icoRecent additions to Bena frederique's PublicationsList.org pagehttp://publicationslist.org/publications.png2010-03-15T14:27:32Z http://publicationslist.org/frederique.bena/refid1 2010-03-15T14:21:59Z

Nearly all recurrent microdeletion/duplication syndromes described to date are characterized by the presence of flanking low copy repeats that act as substrates for non-allelic homologous recombination (NAHR) leading to the loss, gain or disruption of dosage sensitive genes. We describe an identical 1.11 Mb heterozygous deletion of 14q32.2 including the DLK1/GTL2 imprinted gene cluster in two unre...<br/><br/>Frédérique Béna, Stefania Gimelli, Eugenia Migliavacca, Nathalie Brun-Druc, Karin Buiting, Stylianos E Antonarakis, Andrew J Sharp (2010) <i>Hum Mol Genet</i> <i></i> <i></i> : <br/>

http://publicationslist.org/frederique.bena/refid2 2010-03-15T14:21:59Z

Carriers of mutations in the cell cycle checkpoint protein kinase ataxia-telangiectasia mutated (ATM), which represent 1-2% of the general population, have an increased risk of breast cancer. However, experimental evidence that ATM deficiency contributes to human breast carcinogenesis is lacking. We report here that in MCF-10A and MCF-12A cells, which are well established normal human mammary glan...<br/><br/>Stefano J Mandriota, Raphaele Buser, Laurence Lesne, Christelle Stouder, Vincent Favaudon, Pierre Maechler, Frederique Bena, Virginie Clement, Curzio Ruegg, Roberto Montesano, Andre-Pascal Sappino (2010) <i>J Biol Chem</i> <i></i> <i></i> : <br/>

http://publicationslist.org/frederique.bena/refid4 2010-03-15T14:21:59Z

The introduction of molecular karyotyping technologies facilitated the identification of specific genetic disorders associated with imbalances of certain genomic regions. A detailed phenotypic delineation of interstitial 16p13.3 duplications is hampered by the scarcity of such patients. The present report describes the genotypic and phenotypic delineation of nine submicroscopic interstitial 16p13....<br/><br/>Bernard Thienpont, Frédérique Béna, Jeroen Breckpot, Nicole Philip, Björn Menten, Hilde Van Esch, Emmanuel Scalais, Jessica Salamone, Chin-To Fong, Jennifer L Kussmann, Dorothy K Grange, Jerome Gorski, Farah Zahir, Siu Li Yong, Michael M Morris, Stefania Gimelli, Jean-Pierre Fryns, Geert Mortier, Jan M Friedman, Laurent Villard, Armand Bottani, Joris R Vermeesch, Sau Wai Cheung, Koen Devriendt (2009) <i>J Med Genet</i> <i></i> <i></i> : <br/>

http://publicationslist.org/frederique.bena/refid3 2010-03-15T14:21:59Z

BACKGROUND: Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) consists of congenital aplasia of the uterus and the upper part of vagina due to anomalous development of Müllerian ducts, either isolated or associated with other congenital malformations, including renal, skeletal, hearing and heart defects. This disorder has an incidence of approximately 1 in 4500 newborn girls and the aetiology is poo...<br/><br/>Laura Bernardini, Stefania Gimelli, Cristina Gervasini, Massimo Carella, Anwar Baban, Giada Frontino, Giancarlo Barbano, Maria Teresa Divizia, Luigi Fedele, Antonio Novelli, Frédérique Béna, Faustina Lalatta, Monica Miozzo, Bruno Dallapiccola (2009) <i>Orphanet J Rare Dis</i> <i></i> <i></i> 4: <br/>

http://publicationslist.org/frederique.bena/refid5 2010-03-15T14:21:59Z

Down syndrome (DS) is one of the most frequent congenital birth defects, and the most common genetic cause of mental retardation. In most cases, DS results from the presence of an extra copy of chromosome 21. DS has a complex phenotype, and a major goal of DS research is to identify genotype-phenotype correlations. Cases of partial trisomy 21 and other HSA21 rearrangements associated with DS featu...<br/><br/>Robert Lyle, Frédérique Béna, Sarantis Gagos, Corinne Gehrig, Gipsy Lopez, Albert Schinzel, James Lespinasse, Armand Bottani, Sophie Dahoun, Laurence Taine, Martine Doco-Fenzy, Pascale Cornillet-Lefèbvre, Anna Pelet, Stanislas Lyonnet, Annick Toutain, Laurence Colleaux, Jürgen Horst, Ingo Kennerknecht, Nobuaki Wakamatsu, Maria Descartes, Judy C Franklin, Lina Florentin-Arar, Sophia Kitsiou, Emilie Aït Yahya-Graison, Maher Costantine, Pierre-Marie Sinet, Jean M Delabar, Stylianos E Antonarakis (2009) <i>Eur J Hum Genet</i> <i></i> <i></i> 17: 4 454-466<br/>

http://publicationslist.org/frederique.bena/refid6 2010-03-15T14:21:59Z

Chromosomal imbalances, recognized as the major cause of mental retardation (MR), are often due to submicroscopic deletions or duplications not evidenced by conventional cytogenetic methods. Array-based comparative genomic hybridization (array-CGH) improves considerably the detection rate of submicroscopic chromosomal abnormalities and has proven to be an effective tool for detection of submicrosc...<br/><br/>James Lespinasse, Stefania Gimelli, Frédérique Béna, Stylianos E Antonarakis, François Ansermet, Ariane Paoloni-Giacobino (2009) <i>Eur J Med Genet</i> <i></i> <i></i> 52: 1 49-52<br/>

http://publicationslist.org/frederique.bena/refid9 2010-03-15T14:21:59Z

We report on a monochorionic/diamniotic twin pregnancy discordant for trisomy 21. Amniocentesis (at 13(5/7) weeks) was performed following ultrasound signs of hydrops and cystic hygroma in twin 1 (T1). Prenatal karyotype showed non-mosaic trisomy 21 in T1 (47,XX,+21[7]), and low-grade mosaic trisomy 21 in twin 2 (T2) (47,XX,+21[2]/46,XX[19]). Post mortem examination of fetal skin, kidneys and lung...<br/><br/>Sophie Dahoun, Sarantis Gagos, Maryline Gagnebin, Corinne Gehrig, Carole Burgi, Fabienne Simon, Chantal Vieux, Philippe Extermann, Robert Lyle, Michael A Morris, Stylianos E Antonarakis, Frédérique Béna, Jean-Louis Blouin (2008) <i>Am J Med Genet A</i> <i></i> <i></i> 146A: 16 2086-2093<br/>

http://publicationslist.org/frederique.bena/refid8 2010-03-15T14:21:59Z

We report on two patients with de novo subtelomeric terminal deletion of chromosome 6p. Patient 1 is an 8-month-old female born with normal growth parameters, typical facial features of 6pter deletion, bilateral corectopia, and protruding tongue. She has severe developmental delay, profound bilateral neurosensory deafness, poor visual contact, and hypsarrhythmia since the age of 6 months. Patient ...<br/><br/>Danielle Martinet, Isabel Filges, Nathalie Besuchet Schmutz, Michael A Morris, Anne-Claude Gaide, Sophie Dahoun, Armand Bottani, Marie-Claude Addor, Stylianos E Antonarakis, Jacques S Beckmann, Frédérique Béna (2008) <i>Am J Med Genet A</i> <i></i> <i></i> 146A: 16 2094-2102<br/>

http://publicationslist.org/frederique.bena/refid7 2010-03-15T14:21:59Z

BACKGROUND: Duplications and deletions in the human genome can cause disease or predispose persons to disease. Advances in technologies to detect these changes allow for the routine identification of submicroscopic imbalances in large numbers of patients. METHODS: We tested for the presence of microdeletions and microduplications at a specific region of chromosome 1q21.1 in two groups of patients ...<br/><br/>Heather C Mefford, Andrew J Sharp, Carl Baker, Andy Itsara, Zhaoshi Jiang, Karen Buysse, Shuwen Huang, Viv K Maloney, John A Crolla, Diana Baralle, Amanda Collins, Catherine Mercer, Koen Norga, Thomy de Ravel, Koen Devriendt, Ernie M H F Bongers, Nicole de Leeuw, William Reardon, Stefania Gimelli, Frederique Bena, Raoul C Hennekam, Alison Male, Lorraine Gaunt, Jill Clayton-Smith, Ingrid Simonic, Soo Mi Park, Sarju G Mehta, Serena Nik-Zainal, C Geoffrey Woods, Helen V Firth, Georgina Parkin, Marco Fichera, Santina Reitano, Mariangela Lo Giudice, Kelly E Li, Iris Casuga, Adam Broomer, Bernard Conrad, Markus Schwerzmann, Lorenz Räber, Sabina Gallati, Pasquale Striano, Antonietta Coppola, John L Tolmie, Edward S Tobias, Chris Lilley, Lluis Armengol, Yves Spysschaert, Patrick Verloo, Anja De Coene, Linde Goossens, Geert Mortier, Frank Speleman, Ellen van Binsbergen, Marcel R Nelen, Ron Hochstenbach, Martin Poot, Louise Gallagher, Michael Gill, Jon McClellan, Mary-Claire King, Regina Regan, Cindy Skinner, Roger E Stevenson, Stylianos E Antonarakis, Caifu Chen, Xavier Estivill, Björn Menten, Giorgio Gimelli, Susan Gribble, Stuart Schwartz, James S Sutcliffe, Tom Walsh, Samantha J L Knight, Jonathan Sebat, Corrado Romano, Charles E Schwartz, Joris A Veltman, Bert B A de Vries, Joris R Vermeesch, John C K Barber, Lionel Willatt, May Tassabehji, Evan E Eichler (2008) <i>N Engl J Med</i> <i></i> <i></i> 359: 16 1685-1699<br/>

http://publicationslist.org/frederique.bena/refid10 2010-03-15T14:21:59Z

The goals of the human genome project did not include sequencing of the heterochromatic regions. We describe here an initial sequence of 1.1 Mb of the short arm of human chromosome 21 (HSA21p), estimated to be 10% of 21p. This region contains extensive euchromatic-like sequence and includes on average one transcript every 100 kb. These transcripts show multiple inter- and intrachromosomal copies, ...<br/><br/>Robert Lyle, Paola Prandini, Kazutoyo Osoegawa, Boudewijn ten Hallers, Sean Humphray, Baoli Zhu, Eduardo Eyras, Robert Castelo, Christine P Bird, Sarantos Gagos, Carol Scott, Antony Cox, Samuel Deutsch, Catherine Ucla, Marc Cruts, Sophie Dahoun, Xinwei She, Frederique Bena, Sheng-Yue Wang, Christine Van Broeckhoven, Evan E Eichler, Roderic Guigo, Jane Rogers, Pieter J de Jong, Alexandre Reymond, Stylianos E Antonarakis (2007) <i>Genome Res</i> <i></i> <i></i> 17: 11 1690-1696<br/>