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Remember friedreich ataxia even in a toddler with apparently isolated dilated (not hypertrophic!) cardiomyopathy: revisited

Autor: Antonio Novelli, Fabrizio Drago, Gessica Vasco, Paola Francalanci, B Dallapiccola, Rachele Adorisio, Anwar Baban, Marianna Cicenia, Antonio Amodeo, Lorena Travaglini, Enrico Bertini, Federica Calì

Publikováno v: Minerva pediatrics.

Background Friedreich Ataxia (FRDA) is the most common form of ataxia in late childhood. Neurological manifestations often precede cardiac involvement, presenting mainly as hypertrophic cardiomyopathy. Methods We describe a toddler with apparently is

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::594de317adbb035edae830a363303401
https://pubmed.ncbi.nlm.nih.gov/33820410

Simple Version of 'Megaprimer' PCR for Site-Directed Mutagenesis

Autor: A. Colosimo, Z. Xu, G. Novelli, B. Dallapiccola, D.C. Gruenert

Publikováno v: BioTechniques, Vol 26, Iss 5, Pp 870-873 (1999)

Externí odkaz: https://doaj.org/article/03fa615241fc4e4c83bf39390763b892

Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects

Autor: Claudia Ornstein, Anne S. Bassett, Matthew S. Hestand, Bruno Marino, Kelly Schoch, Tony J. Simon, Therese van Amelsvoort, Doron Gothelf, Carrie E. Bearden, Elemi J. Breetvelt, Michael P. Epstein, Tiffany Busa, Robert J. Shprintzen, David Cutler, Tao Wang, Leila Kushan-Wells, Donna M. McDonald-McGinn, Raquel E. Gur, Hayley Moss, Esther D. A. van Duin, B Dallapiccola, Joris Vermeesch, Clodagh M. Murphy, Yingjie Zhao, Rens Evers, María Angeles de la Fuente Sanches, Ann Swillen, H. Richard Johnston, Maria Pontillo, Steve Warren, Guido Lattanzi, Michael E. Zwick, Jacob A. S. Vorstman, Jeroen Breckpot, Oanh Tran, Stylianos E. Antonarakis, Stefano Vicari, Andrea Jin, Alexander Diacou, Miri Carmel, Christian R. Marshall, Abraham Weizman, Bernice E. Morrow, Fadi I Musfee, Wendy R. Kates, Michael John Owen, Fabio Di Fabio, Marco Armando, Erik Boot, Claudia Vingerhoets, Elizabeth Goldmuntz, Massimo Biondi, Kieran C. Murphy, Nancy Butcher, Declan G. Murphy, Candice K. Silversides, Isabelle Cleynen, T. Blaine Crowley, Vandana Shashi, Linda E. Campbell, Elaine H. Zackai, Ronnie Weinberger, Sixto García-Miñaur, Marianne Bernadette van den Bree, Fernando García Algas, Damian Heine-Suñer, Tracy Heung, Daniel E. McGinn, Maude Schneider, Stephan Eliez, Marta Unolt, Stephen R. Hooper, Kathryn McCabe, A. J. Agopian, Tingwei Guo, Zhengdong Zhang, Rosemarie Fritsch, Luis Fernández, Beverly S. Emanuel, Elfi Vergaelen, Alejandra Laorden-Nieto, Flora Tassone, Gabriela M. Repetto, Laura E. Mitchell, Antonino Buzzanca, Elena Michaelovsky, M. Cristina Digilio, Nicole Philip

Publikováno v: American Journal of Human Genetics, 106(1), 26-40. Cell Press
Am J Hum Genet
American Journal of Human Genetics, Vol. 106, No 1 (2020) pp. 26-40
American journal of human genetics, vol 106, iss 1

The 22q11.2 deletion syndrome (22q11.2DS) results from non-allelic homologous recombination between low-copy repeats termed LCR22. About 60%-70% of individuals with the typical 3 megabase (Mb) deletion from LCR22A-D have congenital heart disease, mos

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8700304c185800fa1b2e56de201d2874
https://cris.maastrichtuniversity.nl/en/publications/fcebc151-7a92-4dbe-8f36-bd15cb7462bb