Publications by authors named "Mario Loi"

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Ring 20 syndrome mosaicism and epilepsy: a case with duplication of two BAC clones in 20q11.21-q11.22 defined by genome array-CGH.
Valentina Cabras, Matteo Erriu, Mario Loi, Angela Milia, Caterina Montaldo

J Clin Pathol· September 2012

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C329X in KRIT1 is a founder mutation among CCM patients in Sardinia.
Milena Cau, Mario Loi, Maurizio Melis, Rita Congiu, Alberto Loi

Eur J Med Genet· November 2009

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Familial translocation t(3;10) (p26.3;p12.31) leading to trisomy 10p12.31-->pter and monosomy 3p26.3-->pter in seven members.
Anna Lisa Nucaro, Marta Meloni, Tiziana Pisano, Paola Melis, Elena Rossi, Mario Loi

Am J Med Genet A· December 2008

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A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome.
Milena Cau, Maria Addis, Rita Congiu, Cristiana Meloni, Antonio Cao, Mario Loi

J Hum Genet· January 2007

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Defective temporal processing of sensory stimuli in DYT1 mutation carriers: a new endophenotype of dystonia?
Mirta Fiorio, Mattia Gambarin, Enza Maria Valente, Paolo Liberini, Mario Loi

Brain· January 2007

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Lowe syndrome.
Mario Loi

Orphanet J Rare Dis· May 2006

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Reflex periodic spasms induced by eating.
Angelo Labate, Eleonora Colosimo, Antonio Gambardella, Ugo Leggio, Roberta Ambrosio, Mario Loi

Brain Dev· April 2006

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OCRL mutation analysis in Italian patients with Lowe syndrome.
Maria Addis, Mario Loi, Carmen Lepiani, Milena Cau, Maria Antonietta Melis

Hum Mutat· May 2004

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Phenotypic variability of DYT1-PTD: does the clinical spectrum include psychogenic dystonia?
Anna Rita Bentivoglio, Mario Loi, Enza M Valente, Tamara Ialongo, Pietro Tonali

Mov Disord· September 2002

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