Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome
BLIEK, Jet, VERDE, Gaetano, FISCHETTO, Rita, LALATTA, Faustina, GIORDANO, Lucio, FERRARI, Paola, CUBELLIS, Maria Vittoria, LARIZZA, Lidia, TEMPLE, I. Karen, MANNENS, Marcel M. A. M, MACKAY, Deborah J. G, RICCIO, Andrea, CALLAWAY, Jonathan, MAAS, Saskia M, DE CRESCENZO, Agostina, SPARAGO, Angela, CERRATO, Flavia, RUSSO, Silvia, FERRAIUOLO, Serena, MICHELA RINALDI, Maria
Published in European journal of human genetics : EJHG (01.05.2009)
Published in European journal of human genetics : EJHG (01.05.2009)
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Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith–Wiedemann syndrome and Wilms' tumour
Cerrato, Flavia, Sparago, Angela, Verde, Gaetano, De Crescenzo, Agostina, Citro, Valentina, Cubellis, Maria Vittoria, Rinaldi, Maria Michela, Boccuto, Luigi, Neri, Giovanni, Magnani, Cinzia, D'Angelo, Paolo, Collini, Paola, Perotti, Daniela, Sebastio, Gianfranco, Maher, Eamonn R., Riccio, Andrea
Published in Human molecular genetics (15.05.2008)
Published in Human molecular genetics (15.05.2008)
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Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: Five new cases
Striano, Pasquale, Malacarne, Michela, Cavani, Simona, Pierluigi, Mauro, Rinaldi, Rosanna, Cavaliere, Maria Luigia, Rinaldi, Maria Michela, De Bernardo, Carmelilia, Coppola, Antonietta, Pintaudi, Maria, Gaggero, Roberto, Grammatico, Paola, Striano, Salvatore, Dallapiccola, Bruno, Zara, Federico, Faravelli, Francesca
Published in American journal of medical genetics. Part A (15.09.2006)
Published in American journal of medical genetics. Part A (15.09.2006)
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Expansion to full mutation of a FMR1 intermediate allele over two generations
TERRACCIANO, Alessandra, POMPONI, Maria Grazia, MARINO, Grazia Maria, CHIURAZZI, Pietro, RINALDI, Maria Michela, DOBOSZ, Marina, NERI, Giovanni
Published in European journal of human genetics : EJHG (01.04.2004)
Published in European journal of human genetics : EJHG (01.04.2004)
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Pharmacological inhibition of N-Acylethanolamine acid amidase (NAAA) mitigates intestinal fibrosis through modulation of macrophage activity
Nanì, Maria Francesca, Pagano, Ester, De Cicco, Paola, Lucariello, Giuseppe, Cattaneo, Fabio, Tropeano, Francesca Paola, Cicia, Donatella, Amico, Rebecca, Raucci, Federica, Ercolano, Giuseppe, Maione, Francesco, Rinaldi, Maria Michela, Esposito, Fabiana, Ammendola, Rosario, Luglio, Gaetano, Capasso, Raffaele, Makriyannis, Alexandros, Petrosino, Stefania, Borrelli, Francesca, Romano, Barbara, Izzo, Angelo A
Published in Journal of Crohn's and colitis (30.08.2024)
Published in Journal of Crohn's and colitis (30.08.2024)
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The gene for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32
Fujimoto, M., Kantaputra, Piranit Nik, Ikegawa, Shiro, Fukushima, Yoshimitsu, Sonta, Shin-ichi, Matsuo, Masafumi, Ishida, Takafumi, Matsumoto, Tadashi, Kondo, Shinji, Tomita, Hiroaki, Deng, Han-Xiang, D'urso, Michele, Rinaldi, Maria Michela, Ventruto, Valerio, Takagi, Toshihisa, Nakamura, Yusuke, Niikawa, Norio
Published in Journal of human genetics (01.02.1998)
Published in Journal of human genetics (01.02.1998)
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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
ORRICO, Alfredo, GALLI, Lucia, CAVALIERE, Maria Luigia, GARAVELLI, Livia, FRYNS, Jean-Pierre, CRUSHELL, Ellen, RINALDI, Maria Michela, MEDEIRA, Ana, SORRENTINO, Vincenzo
Published in European journal of human genetics : EJHG (01.01.2004)
Published in European journal of human genetics : EJHG (01.01.2004)
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A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog–Scott syndrome)
Orrico, Alfredo, Galli, Lucia, Falciani, Michela, Bracci, Martina, Cavaliere, Maria Luigia, Rinaldi, Maria Michela, Musacchio, Andrea, Sorrentino, Vincenzo
Published in FEBS letters (04.08.2000)
Published in FEBS letters (04.08.2000)
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Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity
de Crecchio, Giuseppe, Simonelli, Francesca, Nunziata, Giuseppe, Mazzeo, Salvatore, Greco, Giovanni Maria, Rinaldi, Ernesto, Ventruto, Valerio, Ciccodicola, Alfredo, Miano, Maria Giuseppina, Testa, Francesco, Curci, Anna, D'Urso, Michele, Rinaldi, Maria Michela, Cavaliere, Maria Luigia, Castelluccio, Pia
Published in Clinical genetics (01.10.1998)
Published in Clinical genetics (01.10.1998)
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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
Annunziata, Ida, Lanzara, Carmela, Conte, Ivan, Zullo, Alberto, Ventruto, Valerio, Rinaldi, Maria Michela, D'Urso, Michele, Casari, Giorgio, Ciccodicola, Alfredo, Miano, Maria Giuseppina
Published in American journal of medical genetics. Part A (30.04.2003)
Published in American journal of medical genetics. Part A (30.04.2003)
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An Italian family affected by autosomal dominant microcephaly with chorioretinal degeneration
SIMONELLI, Francesca, TESTA, Francesco, NESTI, Anna, DE CRECCHIO, Giuseppe, BIFANI, Mario, CAVALIERE, Maria Luisa, RINALDI, Ernesto, RINALDI, Maria Michela
Published in Journal of pediatric ophthalmology and strabismus (01.09.2002)
Published in Journal of pediatric ophthalmology and strabismus (01.09.2002)
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Spondyloepiphyseal dysplasia tarda and nephrotic syndrome in three siblings
Lama, G, Marrone, N, Majorana, M, Cirillo, F, Salsano, M E, Rinaldi, M M
Published in Pediatric nephrology (Berlin, West) (01.02.1995)
Published in Pediatric nephrology (Berlin, West) (01.02.1995)
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Multiple skeletal familial abnormalities associated with balanced reciprocal translocation 2;8(q32;p13)
Ventruto, V, Pisciotta, R, Renda, S, Festa, B, Rinaldi, M M, Stabile, M, Cavaliere, M L, Esposito, M
Published in American journal of medical genetics (01.12.1983)
Published in American journal of medical genetics (01.12.1983)
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