Publications by authors named "Maria M Rinaldi"

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Pharmacological Inhibition of N-Acylethanolamine Acid Amidase (NAAA) Mitigates Intestinal Fibrosis Through Modulation of Macrophage Activity.
Maria Francesca Nanì, Ester Pagano, Paola De Cicco, Giuseppe Lucariello, Fabio Cattaneo, Maria Michela Rinaldi

J Crohns Colitis· February 2025

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Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome.
Jet Bliek, Gaetano Verde, Jonathan Callaway, Saskia M Maas, Agostina De Crescenzo, Maria Michela Rinaldi

Eur J Hum Genet· May 2009

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Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumour.
Flavia Cerrato, Angela Sparago, Gaetano Verde, Agostina De Crescenzo, Valentina Citro, Maria Michela Rinaldi

Hum Mol Genet· May 2008

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Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: Five new cases.
Pasquale Striano, Michela Malacarne, Simona Cavani, Mauro Pierluigi, Rosanna Rinaldi, Maria Michela Rinaldi

Am J Med Genet A· September 2006

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NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.
Alessandro De Luca, Irene Bottillo, Anna Sarkozy, Claudio Carta, Cinzia Neri, Maria M Rinaldi

Am J Hum Genet· December 2005

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Identification of 14 rare marker chromosomes and derivatives by spectral karyotyping in prenatal and postnatal diagnosis.
Paolo Guanciali-Franchi, Giuseppe Calabrese, Elisena Morizio, Donatella Fantasia, Alessia Colosimo, Maria M Rinaldi

Am J Med Genet A· June 2004

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Expansion to full mutation of a FMR1 intermediate allele over two generations.
Alessandra Terracciano, Maria Grazia Pomponi, Grazia Maria Elisabetta Marino, Pietro Chiurazzi, Maria Michela Rinaldi

Eur J Hum Genet· April 2004

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Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients.
Alfredo Orrico, Lucia Galli, Maria Luigia Cavaliere, Livia Garavelli, Jean-Pierre Fryns, Maria Michela Rinaldi

Eur J Hum Genet· January 2004

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Mapping of MRX81 in Xp11.2-Xq12 suggests the presence of a new gene involved in nonspecific X-linked mental retardation.
Ida Annunziata, Carmela Lanzara, Ivan Conte, Alberto Zullo, Valerio Ventruto, Maria Michela Rinaldi

Am J Med Genet A· April 2003

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An Italian family affected by autosomal dominant microcephaly with chorioretinal degeneration.
Francesca Simonell, Francesco Testa, Anna Nesti, Giuseppe de Crecchio, Mario Bifani, Ernesto Rinaldi, Maria Michela Rinaldi

J Pediatr Ophthalmol Strabismus· February 2003

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