Molecular Genetics and Prenatal Diagnosis

Robert Dobrovolný, Lenka Dvořáková, Jana Ledvinová, Sudheera Magage, Jan Bultas, Jean C. Lubanda, Helena Poupětová, Milan Elleder, Debora Karetová, Martin Hřebíček, Recurrence of fabry disease as a result of paternal germline mosaicism for α-galactosidase A gene mutation American Journal of Medical Genetics Part A. ,vol. 134, pp. 84- 87 ,(2005) , 10.1002/AJMG.A.30533

M Eyries, F Coulet, B Girerd, D Montani, M Humbert, P Lacombe, T Chinet, L Gouya, J Roume, MM Axford, CE Pearson, F Soubrier, ACVRL1 germinal mosaic with two mutant alleles in hereditary hemorrhagic telangiectasia associated with pulmonary arterial hypertension Clinical Genetics. ,vol. 82, pp. 173- 179 ,(2012) , 10.1111/J.1399-0004.2011.01727.X

Thérèse Ferlin, Pierre Landrieu, Caroline Rambaud, Hervé Fernandez, Renée Dumoulin, Pierre Rustin, Bénédicte Mousson, Segregation of the G8993 mutant mitochondrial DNA through generations and embryonic tissues in a family at risk of Leigh syndrome The Journal of Pediatrics. ,vol. 131, pp. 447- 449 ,(1997) , 10.1016/S0022-3476(97)80074-1

M. Hammel, M. Klein, T. Trips, H. Priessmann, T. Ankermann, A. Holzinger, Congenital Central Hypoventilation Syndrome due to PHOX2b gene defects: inheritance from asymptomatic parents. Klinische Padiatrie. ,vol. 221, pp. 286- 289 ,(2009) , 10.1055/S-0029-1220941

Stéphane Goutagny, Alpha B. Bah, Béatrice Parfait, Olivier Sterkers, Michel Kalamarides, Neurofibromatosis type 2 in the elderly population: Clinical and molecular features† American Journal of Medical Genetics Part A. ,vol. 161, pp. 667- 670 ,(2013) , 10.1002/AJMG.A.35851

Federica Taioli, Laura Bertolasi, Domenico Ajena, Moreno Ferrarini, Ilaria Cabrini, Alberto Crestanello, Gian Maria Fabrizi, Parental mosaicism of a novelPMP22mutation with a minimal neuropathic phenotype Journal of the Peripheral Nervous System. ,vol. 17, pp. 414- 417 ,(2012) , 10.1111/J.1529-8027.2012.00441.X

Károly Szuhai, Ivy Jennes, Danielle de Jong, Judith V.M.G. Bovée, Malgorzata Wiweger, Wim Wuyts, Pancras C.W. Hogendoorn, Tiling resolution array-CGH shows that somatic mosaic deletion of the EXT gene is causative in EXT gene mutation negative multiple osteochondromas patients. Human Mutation. ,vol. 32, ,(2011) , 10.1002/HUMU.21423

Virginie Carmignac, Julien Thevenon, Lesley Adès, Bert Callewaert, Sophie Julia, Christel Thauvin-Robinet, Lucie Gueneau, Jean-Benoit Courcet, Estelle Lopez, Katherine Holman, Marjolijn Renard, Henri Plauchu, Ghislaine Plessis, Julie De Backer, Anne Child, Gavin Arno, Laurence Duplomb, Patrick Callier, Bernard Aral, Pierre Vabres, Nadège Gigot, Eloisa Arbustini, Maurizia Grasso, Peter N Robinson, Cyril Goizet, Clarisse Baumann, Maja Di Rocco, Jaime Sanchez Del Pozo, Frédéric Huet, Guillaume Jondeau, Gwenaëlle Collod-Beroud, Christophe Beroud, Jeanne Amiel, Valérie Cormier-Daire, Jean-Baptiste Rivière, Catherine Boileau, Anne De Paepe, Laurence Faivre, None, In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome American Journal of Human Genetics. ,vol. 91, pp. 950- 957 ,(2012) , 10.1016/J.AJHG.2012.10.002

Michal Inbar-Feigenberg, Sanaa Choufani, Darci T. Butcher, Maian Roifman, Rosanna Weksberg, Basic concepts of epigenetics Fertility and Sterility. ,vol. 99, pp. 607- 615 ,(2013) , 10.1016/J.FERTNSTERT.2013.01.117

Daniel Branton, David W Deamer, Andre Marziali, Hagan Bayley, Steven A Benner, Thomas Butler, Massimiliano Di Ventra, Slaven Garaj, Andrew Hibbs, Xiaohua Huang, Stevan B Jovanovich, Predrag S Krstic, Stuart Lindsay, Xinsheng Sean Ling, Carlos H Mastrangelo, Amit Meller, John S Oliver, Yuriy V Pershin, J Michael Ramsey, Robert Riehn, Gautam V Soni, Vincent Tabard-Cossa, Meni Wanunu, Matthew Wiggin, Jeffery A Schloss, The Potential and Challenges of Nanopore Sequencing Nature Biotechnology. ,vol. 26, pp. 1146- 1153 ,(2008) , 10.1038/NBT.1495