Search Results - "MICHELA RINALDI, Maria"

Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome by 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

“…Genomic imprinting is an epigenetic phenomenon restricting gene expression in a manner dependent on parent of origin. Imprinted gene products are critical…”
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Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith–Wiedemann syndrome and Wilms' tumour by 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

“…The parent of origin-dependent expression of the IGF2 and H19 genes is controlled by the imprinting centre 1 (IC1) consisting in a methylation-sensitive…”
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Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: Five new cases by 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

“…Mental retardation, facial dysmorphisms, seizures, and brain abnormalities are features of 6q terminal deletions. We have ascertained five patients with 6q…”
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Expansion to full mutation of a FMR1 intermediate allele over two generations by TERRACCIANO, Alessandra, POMPONI, Maria Grazia, MARINO, Grazia Maria, CHIURAZZI, Pietro, RINALDI, Maria Michela, DOBOSZ, Marina, NERI, Giovanni

“…Fragile X syndrome is due to an expanded CGG repeat in the 5' UTR of the FMR1 gene. According to repeat size, we distinguish four allele categories: normal…”
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Pharmacological inhibition of N-Acylethanolamine acid amidase (NAAA) mitigates intestinal fibrosis through modulation of macrophage activity by 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

“…Intestinal fibrosis, a frequent complication of inflammatory bowel disease, is characterized by stricture formation with no pharmacological treatment to date…”
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The gene for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32 by 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

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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 by ORRICO, Alfredo, GALLI, Lucia, CAVALIERE, Maria Luigia, GARAVELLI, Livia, FRYNS, Jean-Pierre, CRUSHELL, Ellen, RINALDI, Maria Michela, MEDEIRA, Ana, SORRENTINO, Vincenzo

“…Faciogenital dysplasia or Aarskog-Scott syndrome (AAS) is a genetically heterogeneous developmental disorder. The X-linked form of AAS has been ascribed to…”
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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) by Orrico, Alfredo, Galli, Lucia, Falciani, Michela, Bracci, Martina, Cavaliere, Maria Luigia, Rinaldi, Maria Michela, Musacchio, Andrea, Sorrentino, Vincenzo

“…Aarskog–Scott Syndrome (AAS) is an X-linked disorder characterised by short stature and multiple facial, limb and genital abnormalities. A gene, FGD1, altered…”
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Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity by 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

“…Two unrelated families with familial exudative vitreoretinopathy (FEVR) show apparent autosomal recessive inheritance rather than the previously reported…”
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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 by Annunziata, Ida, Lanzara, Carmela, Conte, Ivan, Zullo, Alberto, Ventruto, Valerio, Rinaldi, Maria Michela, D'Urso, Michele, Casari, Giorgio, Ciccodicola, Alfredo, Miano, Maria Giuseppina

“…X‐linked nonspecific mental retardation (MRX) accounts for ∼25% of mental retardation in males. A number of MRX loci have been mapped on the X chromosome,…”
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An Italian family affected by autosomal dominant microcephaly with chorioretinal degeneration by SIMONELLI, Francesca, TESTA, Francesco, NESTI, Anna, DE CRECCHIO, Giuseppe, BIFANI, Mario, CAVALIERE, Maria Luisa, RINALDI, Ernesto, RINALDI, Maria Michela

“…We studied an Italian family affected by the autosomal dominant form of microcephaly and chorioretinal degeneration that was characterized by various degrees…”
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Spondyloepiphyseal dysplasia tarda and nephrotic syndrome in three siblings by LAMA, G, MARRONE, N, MAJORANA, M, CIRILLO, F, SALSANO, M. E, RINALDI, M. M

“…The association of a spondyloepiphyseal dysplasia tarda (SED-T) with the nephrotic syndrome (NS) was found in three siblings. They have counsaguineous (first…”
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Multiple skeletal familial abnormalities associated with balanced reciprocal translocation 2;8(q32;p13) by Ventruto, V, Pisciotta, R, Renda, S, Festa, B, Rinaldi, M M, Stabile, M, Cavaliere, M L, Esposito, M

“…A father and three of his offspring had skeletal abnormalities consisting of a short forearm, cubitus valgus, fusion of first and second cervical vertebrae,…”
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