Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Maria Dolores Perrone"'
Autor:
Claudio Reggiani, Sandra Coppens, Tayeb Sekhara, Ivan Dimov, Bruno Pichon, Nicolas Lufin, Marie-Claude Addor, Elga Fabia Belligni, Maria Cristina Digilio, Flavio Faletra, Giovanni Battista Ferrero, Marion Gerard, Bertrand Isidor, Shelagh Joss, Florence Niel-Bütschi, Maria Dolores Perrone, Florence Petit, Alessandra Renieri, Serge Romana, Alexandra Topa, Joris Robert Vermeesch, Tom Lenaerts, Georges Casimir, Marc Abramowicz, Gianluca Bontempi, Catheline Vilain, Nicolas Deconinck, Guillaume Smits
Publikováno v:
Genome Medicine, Vol 9, Iss 1, Pp 1-20 (2017)
Abstract Background Tissue-specific integrative omics has the potential to reveal new genic elements important for developmental disorders. Methods Two pediatric patients with global developmental delay and intellectual disability phenotype underwent
Externí odkaz:
https://doaj.org/article/1e373d346a364c37be5ee81901ae9524
Autor:
Flavio Faletra, Vanna Pecile, Maria Dolores Perrone, Katy Vecchiato, Andrea Taddio, Roberta Bottega, Subrata Sabui, Hamid M. Said
Thiamine metabolism dysfunction syndrome-4 (THMD4) includes episodic encephalopathy, often associated with a febrile illness, causing transient neurologic dysfunction and a slowly progressive axonal polyneuropathy. Until now only two mutations (G125S
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7543600aba07b3584a6ed5fd4e60c0cb
https://www.nature.com/articles/s10038-019-0666-5#Sec17
https://www.nature.com/articles/s10038-019-0666-5#Sec17
Autor:
Vanna Pecile, Maria Dolores Perrone, Paolo Gasparini, Flavio Faletra, Adamo Pio D'Adamo, Maria Santa Rocca, Marco Carrozzi
Publikováno v:
American Journal of Medical Genetics Part A. :461-464
Does the 1.5 Mb Microduplication in Chromosome Band Xp22.31 Have a Pathogenetic Role? New Contribution and a Review of the Literature Flavio Faletra,* Adamo Pio D’Adamo, Maria Santa Rocca, Marco Carrozzi, Maria Dolores Perrone, Vanna Pecile, and Pa
Autor:
Antonella Fabretto, Vanna Pecile, Maria Dolores Perrone, Aldo Skabar, Paolo Gasparini, Maria Santa Rocca
Publikováno v:
American Journal of Medical Genetics Part A. :882-887
Deletion of the terminal part of long arm of chromosome 4 is a condition characterized by facial dysmorphisms, cardiac and limb defects, and developmental delay. Deletions usually involve the terminal part of the chromosome and most frequently are in
Autor:
Flavio Faletra, Maria Dolores Perrone, Vanna Pecile, Irene Bruno, Paolo Gasparini, Maria Santa Rocca
Publikováno v:
European Journal of Medical Genetics. 55:117-119
Patients with distal deletions of chromosome 1q have a recognizable syndrome that includes microcephaly, hypoplasia or agenesis of the corpus callosum, and psychomotor retardation. Although these symptoms have been attributed to deletions of 1q42-1q4
Autor:
Dragana Vuckovic, Lucia Mauri, Maria Dolores Perrone, Bruno Dallapiccola, Annamaria Franzè, Paolo Gasparini
Publikováno v:
European journal of human genetics (Online) (2014). doi:10.1038/ejhg.2014.151
info:cnr-pdr/source/autori:Vuckovic D.; Dallapiccola B.; Franze A.; Mauri L.; Perrone M.D.; Gasparini P./titolo:Connexin 26 variant carriers have a better gastrointestinal health: is this the heterozygote advantage?/doi:10.1038%2Fejhg.2014.151/rivista:European journal of human genetics (Online)/anno:2014/pagina_da:/pagina_a:/intervallo_pagine:/volume
info:cnr-pdr/source/autori:Vuckovic D.; Dallapiccola B.; Franze A.; Mauri L.; Perrone M.D.; Gasparini P./titolo:Connexin 26 variant carriers have a better gastrointestinal health: is this the heterozygote advantage?/doi:10.1038%2Fejhg.2014.151/rivista:European journal of human genetics (Online)/anno:2014/pagina_da:/pagina_a:/intervallo_pagine:/volume
Connexin 26 variant carriers have a better gastrointestinal health: is this the heterozygote advantage?
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a7af0503739ec06bbb2dc56af95976d
https://publications.cnr.it/doc/283361
https://publications.cnr.it/doc/283361