Publications by authors named "Agnese Brega"

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The shortness of Pygmies is associated with severe under-expression of the growth hormone receptor.
Mauro Bozzola, Paola Travaglino, Nicola Marziliano, Cristina Meazza, Sara Pagani, Agnese Brega

Mol Genet Metab· November 2009

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Ultrastructural definition of apoptosis in heart failure.
Eloisa Arbustini, Agnese Brega, Jagat Narula

Heart Fail Rev· June 2008

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Barth syndrome associated with compound hemizygosity and heterozygosity of the TAZ and LDB3 genes.
Nicola Marziliano, Savina Mannarino, Luisa Nespoli, Marta Diegoli, Michele Pasotti, Agnese Brega

Am J Med Genet A· May 2007

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Early diagnosis of Wilson Disease in a six-year-old child.
Alessandro G Lo Curto, Antonietta Marchi, Maurizia Grasso, Eloisa Arbustini, Georgios Loudianos, Agnese Brega

J Pediatr· January 2006

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Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies.
Eloisa Arbustini, Maurizia Grasso, Silvia Ansaldi, Clara Malattia, Andrea Pilotto, Agnese Brega

Hum Mutat· November 2005

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A novel mtDNA point mutation in tRNA(Val) is associated with hypertrophic cardiomyopathy and MELAS.
Francesca Menotti, Agnese Brega, Marta Diegoli, Maurizia Grasso, Maria Grazia Modena

Ital Heart J· June 2004

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