Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Mario Loi"'
Autor:
Orsetta Zuffardi, Roberto Ciccone, S. Santaniello, Maria Antonietta Melis, Gabriella Sole, Cristiana Meloni, R. Congiu, Mario Loi, Francesco Emma, Antonio Cao, Maria Addis, Milena Cau
Publikováno v:
Journal of Human Genetics. 51:1030-1036
In mammals, X-linked gene products can be dosage compensated between males and females by inactivation of one of the two X chromosomes in the developing female embryos. X inactivation choice is usually random in embryo mammals, but several mechanisms
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21c6c374a6276f9b6e21160699e51267
https://doi.org/10.1007/s10038-006-0049-6
https://doi.org/10.1007/s10038-006-0049-6
Autor:
Angelo Labate, Antonio Gambardella, Aldo Quattrone, Ugo Leggio, Roberta Ambrosio, Eleonora Colosimo, Mario Loi
Publikováno v:
Brain and Development. 28:170-174
We report on two patients with reflex periodic spasms (PS) triggered by eating. Both patients also had significant cognitive and motor deficits. In both patients, reflex eating PS started during meal and occurred repeatedly at intervals of about 5–
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9aabb75099f325280cc58005f932e7d
https://doi.org/10.1016/j.braindev.2005.06.005
https://doi.org/10.1016/j.braindev.2005.06.005
Publikováno v:
Journal of Clinical Pathology. 65:851-853
Herein, we report an unusual case of ring 20 mosaicism in a 15-year-old non-dysmorphic girl with epilepsy refractory to drug therapy. Ring 20 syndrome is a rare condition still not well characterised both at the genetic and clinical levels. It was de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::11f21dc129300bdae524b4b4d1afc4fb
https://doi.org/10.1136/jclinpath-2011-200573
https://doi.org/10.1136/jclinpath-2011-200573
Autor:
Maria Addis, Maurizio Melis, Cristiana Meloni, Marianna Serrenti, R. Congiu, Alberto Loi, Milena Cau, Mario Loi, Maria Antonietta Melis
Publikováno v:
European journal of medical genetics. 52(5)
Cerebral cavernous malformations (CCMs) are CNS vascular anomalies associated with seizures, headaches and hemorrhagic strokes and represent 10-20% of cerebral lesions. CCM is present in 0.1-0.5 of the population. This disorder most often occurs spor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6474c3c42326625673e433279f2eabc0
https://pubmed.ncbi.nlm.nih.gov/19454328
https://pubmed.ncbi.nlm.nih.gov/19454328
Autor:
Paola Melis, Anna Lisa Nucaro, Orsetta Zuffardi, Marta Meloni, Tiziana Pisano, Mario Loi, Simona Corona, Rossano Rossino, Francesco Achena, Carlo Cianchetti, Elena Rossi
Publikováno v:
American journal of medical genetics. Part A. (24)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13c162fd46759cecfea4356552ceb41b
https://pubmed.ncbi.nlm.nih.gov/19012344
https://pubmed.ncbi.nlm.nih.gov/19012344
Autor:
Michele Tinazzi, Salvatore Maria Aglioti, Paolo Liberini, Giovanni Defazio, Mario Loi, Giovanni Cossu, Kailash P. Bhatia, Enza Maria Valente, Antonio Fiaschi, Mirta Fiorio, Giuseppe Moretto, Mattia Gambarin
DYT1 primary torsion dystonia is an autosomal dominant movement disorder due to a 3-bp GAG deletion in the TOR1A gene, which becomes manifest in only 30-40% of mutation carriers. Investigating the factors regulating this reduced penetrance might add
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f7b95c31aeb3be440c4f84ded6d22ba
http://hdl.handle.net/11573/79849
http://hdl.handle.net/11573/79849
Publikováno v:
Human mutation. 23(5)
The oculocerebrorenal syndrome of Lowe (OCRL, also called OCRL1) is a rare X-linked disorder characterized by major abnormalities of eyes, nervous system, and kidneys. The gene responsible for OCRL was identified by positional cloning and encodes an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3cec83736d872ed495568b909fa9e24f
https://pubmed.ncbi.nlm.nih.gov/15108291
https://pubmed.ncbi.nlm.nih.gov/15108291
Autor:
Alberto Albanese, Mario Loi, Tamara Ialongo, Pietro Attilio Tonali, Enza Maria Valente, Anna Rita Bentivoglio
Publikováno v:
Movement disorders : official journal of the Movement Disorder Society. 17(5)
Primary torsion dystonia (PTD) is a clinically and genetically heterogeneous group of movement disorders, usually inherited in an autosomal dominant manner with reduced (30–40%) penetrance. The DYT1 gene on chromosome 9q34 is responsible for most c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd9da0b83669b37b9cb12cf760ec4926
https://pubmed.ncbi.nlm.nih.gov/12360559
https://pubmed.ncbi.nlm.nih.gov/12360559
Autor:
Mirta Fiorio, Mattia Gambarin, Enza Maria Valente, Paolo Liberini, Mario Loi, Giovanni Cossu, Giuseppe Moretto, Kailash P. Bhatia, Giovanni Defazio, Salvatore M. Aglioti, Antonio Fiaschi, Michele Tinazzi
Publikováno v:
Brain: A Journal of Neurology; Jan2007, Vol. 130 Issue 1, p134-142, 9p
Autor:
Loretta Ghersini, Renata Lorini, Lisa Poloni, Giorgio Gimelli, Daniela Tonetti, Diletta Peretti, Paola Maraschio, Christa Fonatsch, Orsetta Zuffardi, G. Zamboni, Sibylle D. Flatz, Franca Bernardi, Mario Loi, C. De Paoli, Mauro Bozzola, Roberta Vanni
Publikováno v:
Human Genetics. 57:345-350
Eight patients are reported with a de novo extra inverted duplicated chromosome 15. The abnormal chromosome was considered to be the same in all cases, but its precise delineation remained uncertain and was defined as either 15pter leads to 15q12::15
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af5aae3091a69e4138506e0527165a0a
https://doi.org/10.1007/bf00281681
https://doi.org/10.1007/bf00281681