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Published in Science (American Association for the Advancement of Science) (28.09.2012)
Published in Science (American Association for the Advancement of Science) (28.09.2012)
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Familial cleidocranial dysplasia misdiagnosed as rickets over three generations
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Published in Pediatrics international (01.10.2015)
Published in Pediatrics international (01.10.2015)
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DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies
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Published in Genetics in medicine (01.01.2022)
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The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study
Neri, Marcella, Rossi, Rachele, Trabanelli, Cecilia, Mauro, Antonio, Selvatici, Rita, Falzarano, Maria Sofia, Spedicato, Noemi, Margutti, Alice, Rimessi, Paola, Fortunato, Fernanda, Fabris, Marina, Gualandi, Francesca, Comi, Giacomo, Tedeschi, Silvana, Seia, Manuela, Fiorillo, Chiara, Traverso, Monica, Bruno, Claudio, Giardina, Emiliano, Piemontese, Maria Rosaria, Merla, Giuseppe, Cau, Milena, Marica, Monica, Scuderi, Carmela, Borgione, Eugenia, Tessa, Alessandra, Astrea, Guia, Santorelli, Filippo Maria, Merlini, Luciano, Mora, Marina, Bernasconi, Pia, Gibertini, Sara, Sansone, Valeria, Mongini, Tiziana, Berardinelli, Angela, Pini, Antonella, Liguori, Rocco, Filosto, Massimiliano, Messina, Sonia, Vita, Gianluca, Toscano, Antonio, Vita, Giuseppe, Pane, Marika, Servidei, Serenella, Pegoraro, Elena, Bello, Luca, Travaglini, Lorena, Bertini, Enrico, D'Amico, Adele, Ergoli, Manuela, Politano, Luisa, Torella, Annalaura, Nigro, Vincenzo, Mercuri, Eugenio, Ferlini, Alessandra
Published in Frontiers in genetics (03.03.2020)
Published in Frontiers in genetics (03.03.2020)
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An emerging phenotype of interstitial 15q25.2 microdeletions: Clinical report and review
Palumbo, Orazio, Palumbo, Pietro, Palladino, Teresa, Stallone, Raffaella, Miroballo, Mattia, Piemontese, Maria Rosaria, Zelante, Leopoldo, Carella, Massimo
Published in American journal of medical genetics. Part A (01.12.2012)
Published in American journal of medical genetics. Part A (01.12.2012)
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Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC-C loci
Garavelli, Livia, Piemontese, Maria Rosaria, Cavazza, Alberto, Rosato, Simonetta, Wischmeijer, Anita, Gelmini, Chiara, Albertini, Enrico, Albertini, Giuseppe, Forzano, Francesca, Franchi, Fabrizia, Carella, Massimo, Zelante, Leopoldo, Superti-Furga, Andrea
Published in American journal of medical genetics. Part A (01.11.2013)
Published in American journal of medical genetics. Part A (01.11.2013)
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A new locus on 3p23-p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H
BISCEGLIA, Luigi, ZOCCOLELLA, Stefano, SERLENGA, Luigi, ZELANTE, Leopoldo, BERTINI, Enrico, PETRUZZELLA, Vittoria, TORRACO, Alessandra, PIEMONTESE, Maria Rosaria, DELL'AGLIO, Rosa, AMATI, Angela, DE BONIS, Patrizia, ARTUSO, Lucia, COPETTI, Massimiliano, SANTORELLI, Filippo Maria
Published in European journal of human genetics : EJHG (01.06.2010)
Published in European journal of human genetics : EJHG (01.06.2010)
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Naevoid basal cell carcinoma syndrome in a 22-month-old child presenting with multiple basal cell carcinomas and a fetal rhabdomyoma
Diociaiuti, Andrea, Inserra, Alessandro, De Vega, Irene Fuertes, Rota, Cristina, Surrenti, Tiziana, Giraldi, Loredana, Piemontese, Maria Rosaria, Giovannoni, Isabella, Callea, Francesco, El Hachem, May
Published in Acta dermato-venereologica (01.01.2015)
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Identification of a novel RUNX2 gene mutation in an Italian family with cleidocranial dysplasia
Marchisella, Cristiano, Rolando, Francesca, Muscarella, Lucia Anna, Zelante, Leopoldo, Bracco, Pietro, Piemontese, Maria Rosaria
Published in European journal of orthodontics (01.10.2011)
Published in European journal of orthodontics (01.10.2011)
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HOXA1 gene variants influence head growth rates in humans
Muscarella, Lucia Anna, Guarnieri, Vito, Sacco, Roberto, Militerni, Roberto, Bravaccio, Carmela, Trillo, Simona, Schneider, Cindy, Melmed, Raun, Elia, Maurizio, Mascia, Maria Lucia, Rucci, Emanuela, Piemontese, Maria Rosaria, D'Agruma, Leonardo, Persico, Antonio M.
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (05.04.2007)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (05.04.2007)
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GPR143 mutational analysis in two Italian families with X-linked ocular albinism
Micale, Lucia, Augello, Bartolomeo, Fusco, Carmela, Turturo, Maria Giuseppina, Granatiero, Matteo, Piemontese, Maria Rosaria, Zelante, Leopoldo, Cecconi, Antonella, Merla, Giuseppe
Published in Genetic testing and molecular biomarkers (01.08.2009)
Published in Genetic testing and molecular biomarkers (01.08.2009)
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Combined 17alpha-Hydroxylase/17,20-lyase deficiency caused by Phe93Cys mutation in the CYP17 gene
Di Cerbo, Alfredo, Biason-Lauber, Anna, Savino, Maria, Piemontese, Maria Rosaria, Di Giorgio, Anna, Perona, Marco, Savoia, Anna
Published in The journal of clinical endocrinology and metabolism (01.02.2002)
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Published in The journal of clinical endocrinology and metabolism (01.02.2002)
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Combined 17α-Hydroxylase/17,20-Lyase Deficiency Caused by Phe93Cys Mutation in the CYP17 Gene
Di Cerbo, Alfredo, Biason-Lauber, Anna, Savino, Maria, Piemontese, Maria Rosaria, Di Giorgio, Anna, Perona, Marco, Savoia, Anna
Published in The journal of clinical endocrinology and metabolism (01.02.2002)
Published in The journal of clinical endocrinology and metabolism (01.02.2002)
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Familial cleidocranial dysplasia misdiagnosed as rickets over three generations
Franceschi, Roberto, Maines, Evelina, Fedrizzi, Michela, Piemontese, Maria Rosaria, De Bonis, Patrizia, Agarwal, Nivedita, Bellizzi, Maria, Di Palma, Annunziata
Published in Pediatrics International (01.10.2015)
Published in Pediatrics International (01.10.2015)
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A YAC Contig Spanning the Blepharophimosis-Ptosis- Epicanthus inversus Syndrome and Propionic Acidemia Loci
Piemontese, Maria Rosaria, Memeo, Elena, Carella, Massimo, Amati, Patrizia, Chomel, Jean-Claude, Bonneau, Dominique, Pilia, Giuseppe, Cao, Antonio, Drabkin, Harry, Gemmili, Robert, Rommens, Johanna, Zelante, Leopoldo, Casparini, Paolo, Bisceglia, Luigi
Published in European journal of human genetics : EJHG (01.05.1997)
Published in European journal of human genetics : EJHG (01.05.1997)
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Linkage analysis in two large Italian pedigrees affected with nail patella syndrome
Melchionda, S, Seri, M, Carella, M, Piemontese, M R, Zhang, X X, Zelante, L, Romeo, G, Gasparini, P
Published in European journal of human genetics : EJHG (01.07.1998)
Published in European journal of human genetics : EJHG (01.07.1998)
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Screening of neurofibromatosis type 1 gene: identification of a large deletion and of an intronic variant
Grifa, A, Piemontese, M R, Melchionda, S, Origone, P, Zelante, L, Coviello, D, Fratta, G, Dallapiccola, B, Balestrazzi, P, Ajmar, F
Published in Clinical genetics (01.06.1995)
Published in Clinical genetics (01.06.1995)
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Novel mutations of dystrophin gene in DMD patients detected by rapid scanning in biplex exons DHPLC analysis
Muscarella, Lucia Anna, Piemontese, Maria Rosaria, Barbano, Raffaela, Fazio, Antonina, Guarnieri, Vito, Quattrone, Alessandro, Zelante, Leopoldo
Published in Biomolecular engineering (01.06.2007)
Published in Biomolecular engineering (01.06.2007)
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An emerging phenotype of interstitial 15q25.2 microdeletions: Clinical report and review
Palumbo, Orazio, Palumbo, Pietro, Palladino, Teresa, Stallone, Raffaella, Miroballo, Mattia, Piemontese, Maria Rosaria, Zelante, Leopoldo, Carella, Massimo
Published in American Journal of Medical Genetics Part A (01.12.2012)
Published in American Journal of Medical Genetics Part A (01.12.2012)
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