Chromoanagenesis: cataclysms behind complex chromosomal rearrangements

by Franck Pellestor
Published 2019-02-01

Chromoanagenesis: a piece of the macroevolution scenario

by Franck Pellestor, Vincent Gatinois
Published 2020-01-01

iPSC reprogramming of fibroblasts from a patient with a Rothmund-Thomson syndrome RTS

by Vincent Gatinois, Romain Desprat, Lydiane Pichard, Fabienne Becker, Alice Goldenberg, Xavier Balguerie, Franck Pellestor, Jean-Marc Lemaitre
Published 2020-05-01

Phenotypic and Cytogenetic Variety of Pure Partial Trisomy

by Mehrdad Noruzinia, Genevieve Lefort, Anne Marie Chaze, Jacques Puechberty, Franck Pellestor, Patricia Blanchet, Valerie Cacheux, Pierre Sarda
Published 2009-06-01

iPSC line derived from a Bloom syndrome patient retains an increased disease-specific sister-chromatid exchange activity.

by Vincent Gatinois, Romain Desprat, Fabienne Becker, Lydiane Pichard, Florence Bernex, Bertrand Isidor, Franck Pellestor, Jean-Marc Lemaitre
Published 2020-03-01

Reprogramming of Human Peripheral Blood Mononuclear Cell (PBMC) from a patient suffering of a Werner syndrome resulting in iPSC line (REGUi003-A) maintaining a short telomere lengt...

by Vincent Gatinois, Romain Desprat, Fabienne Becker, Lydiane Pichard, Florence Bernex, Carole Corsini, Franck Pellestor, Jean-Marc Lemaitre
Published 2019-08-01

A 4.6 Mb Inversion Leading to PCDH15-LINC00844 and BICC1-PCDH15 Fusion Transcripts as a New Pathogenic Mechanism Implicated in Usher Syndrome Type 1

by Christel Vaché, Jacques Puechberty, Valérie Faugère, Floriane Darmaisin, Alessandro Liquori, David Baux, Catherine Blanchet, Catherine Blanchet, Gema Garcia-Garcia, Isabelle Meunier, Franck Pellestor, Michel Koenig, Anne-Françoise Roux
Published 2020-07-01

Disruption of chromatin organisation causes MEF2C gene overexpression in intellectual disability: a case report

by Kevin Yauy, Anouck Schneider, Bee Ling Ng, Jean-Baptiste Gaillard, Satish Sati, Christine Coubes, Constance Wells, Magali Tournaire, Thomas Guignard, Pauline Bouret, David Geneviève, Jacques Puechberty, Franck Pellestor, Vincent Gatinois
Published 2019-08-01

Aneuploidy and confined chromosomal mosaicism in the developing human brain.

by Yuri B Yurov, Ivan Y Iourov, Svetlana G Vorsanova, Thomas Liehr, Alexei D Kolotii, Sergei I Kutsev, Franck Pellestor, Alfia K Beresheva, Irina A Demidova, Viktor S Kravets, Viktor V Monakhov, Ilia V Soloviev
Published 2007-01-01

A Novel Chromosomal Translocation Identified due to Complex Genetic Instability in iPSC Generated for Choroideremia

by Nejla Erkilic, Vincent Gatinois, Simona Torriano, Pauline Bouret, Carla Sanjurjo-Soriano, Valerie De Luca, Krishna Damodar, Nicolas Cereso, Jacques Puechberty, Rocio Sanchez-Alcudia, Christian P. Hamel, Carmen Ayuso, Isabelle Meunier, Franck Pellestor, Vasiliki Kalatzis
Published 2019-09-01

Mosaic complete tetrasomy 21 in a fetus with complete atrioventricular septal defect and minor morphological variations

by Vincent Gatinois, Nicole Bigi, Eve Mousty, Jean Chiesa, Yuri Musizzano, Anouck Schneider, Geneviève Lefort, Lucile Pinson, Jean‐Baptiste Gaillard, Clémence Ragon, Marie‐Josée Perez, Magali Tournaire, Patricia Blanchet, Carole Corsini, Emmanuelle Haquet, Patrick Callier, David Geneviève, Franck Pellestor, Jacques Puechberty
Published 2019-11-01