Resultados da busca - Silvia Russo
- Mostrando 1 - 20 resultados de 32
- Ir para a próxima página
-
1
-
2
-
3
Neutrophil gelatinase‐associated lipocalin serum evaluation through normal pregnancy and in pregnancies complicated by preeclampsia por Rosario D’Anna, G Baviera, Domenico Giordano, Giovanna Todarello, Silvia Russo, Stefania Recupero, Davide Bolignano, Francesco Corrado
Publicado em 2009Artigo -
4
Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains por David Monk, Joannella Morales, Johan T. den Dunnen, Silvia Russo, Franck Court, Dirk Prawitt, Thomas Eggermann, Jasmin Beygo, Karin Buiting, Zeynep Tümer
Publicado em 2016Revisão -
5
Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes por Silvia Russo, Margherita Marchi, Francesca Cogliati, Maria Teresa Bonati, Maria Pintaudi, E. Veneselli, Veronica Saletti, M. R. Balestrini, Bruria Ben‐Zeev, Lidia Larizza
Publicado em 2009Artigo -
6
Mechanisms causing imprinting defects in familial Beckwith–Wiedemann syndrome with Wilms' tumour por Angela Sparago, Silvia Russo, Flavia Cerrato, Serena Ferraiuolo, Pierangela Castorina, Angelo Selicorni, Christine Schwienbacher, Massimo Negrini, Giovanni Battista Ferrero, Margherita Silengo, Cecilia Anichini, Lidia Larizza, Andrea Riccio
Publicado em 2006Artigo -
7
Genistein Aglycone Does Not Affect Thyroid Function: Results from a Three-Year, Randomized, Double-Blind, Placebo-Controlled Trial por Alessandra Bitto, Francesca Polito, Marco Atteritano, Domenica Altavilla, Susanna Mazzaferro, Herbert Marini, Elena Bianca Adamo, Rosario D’Anna, Roberta Granese, Francesco Corrado, Silvia Russo, Letteria Minutoli, Francesco Squadrito
Publicado em 2010Artigo -
8
A KHDC3L mutation resulting in recurrent hydatidiform mole causes genome-wide DNA methylation loss in oocytes and persistent imprinting defects post-fertilisation por Hannah Demond, Zahra Anvar, Bahia Namavar Jahromi, Angela Sparago, Ankit Verma, Maryam Davari, Luciano Calzari, Silvia Russo, Mojgan Akbarzadeh‐Jahromi, David Monk, Simon Andrews, Andrea Riccio, Gavin Kelsey
Publicado em 2019Artigo -
9
Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance por Maria Vittoria Cubellis, Laura Pignata, Ankit Verma, Angela Sparago, Rosita Del Prete, Maria Monticelli, Luciano Calzari, Vincenzo Antona, Daniela Melis, Romano Tenconi, Silvia Russo, Flavia Cerrato, Andrea Riccio
Publicado em 2020Artigo -
10
Epilepsy in Rett syndrome: Clinical and genetic features por Maria Pintaudi, Maria Grazia Calevo, Aglaia Vignoli, Elena Biggi Parodi, Francesca Aiello, M. G. Baglietto, Joussef Hayek, Sabrina Buoni, Alessandra Renieri, Silvia Russo, Francesca Cogliati, Lucio Giordano, Maria Paola Canevini, Edvige Veneselli
Publicado em 2010Artigo -
11
Human Ovarian Cancer Tissue Exhibits Increase of Mitochondrial Biogenesis and Cristae Remodeling por Anna Signorile, Domenico De Rasmo, Antonella Cormio, Clara Musicco, Roberta Rossi, Francesco Fortarezza, Luigi Leonardo Palese, Vera Loizzi, Leonardo Resta, Giovanni Scillitani, Ettore Cicinelli, Francesca Simonetti, Anna Ferretta, Silvia Russo, Antonio Tufaro, Gennaro Cormio
Publicado em 2019Artigo -
12
The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith–Wiedemann syndrome and Silver–Russell syndrome cases por Nicoletta Chiesa, Agostina De Crescenzo, Kankadeb Mishra, Lucia Perone, Massimo Carella, Orazio Palumbo, Alessandro Mussa, Angela Sparago, Flavia Cerrato, Silvia Russo, Elisabetta Lapi, Maria Vittoria Cubellis, Chandrasekhar Kanduri, Margherita Silengo, Andrea Riccio, Giovanni Battista Ferrero
Publicado em 2011Artigo -
13
Broadening of cohesinopathies: exome sequencing identifies mutations in <i><scp>ANKRD11</scp></i> in two patients with Cornelia de Lange‐overlapping phenotype por Ilaria Parenti, Cristina Gervasini, Jelena Pozojevic, Luitgard Graul‐Neumann, Jacopo Azzollini, D. Braunholz, Erwan Watrin, Kerstin S. Wendt, Anna Cereda, Davide Cittaro, Gabriele Gillessen‐Kaesbach, Dejan Lazarević, Milena Mariani, Silvia Russo, Ralf Werner, Peter Krawitz, Lidia Larizza, Angelo Selicorni, Frank J. Kaiser
Publicado em 2015Artigo -
14
Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences por Thomas Eggermann, Elzem Yapici, Jet Bliek, Arrate Pereda, Matthias Begemann, Silvia Russo, Pierpaola Tannorella, Luciano Calzari, Guiomar Pérez de Nanclares, Paola Lombardi, I. Karen Temple, Deborah Mackay, Andrea Riccio, Masayo Kagami, Tsutomu Ogata, Pablo Lapunzina, David Monk, Eamonn R. Maher, Zeynep Tümer
Publicado em 2022Artigo -
15
Genistein in the Metabolic Syndrome: Results of a Randomized Clinical Trial por Francesco Squadrito, Herbert Marini, Alessandra Bitto, Domenica Altavilla, Francesca Polito, Elena Bianca Adamo, Rosario D’Anna, Vincenzo Arcoraci, Bruce Burnett, Letteria Minutoli, A. Di Benedetto, Giacoma Di Vieste, Domenico Cucinotta, Cesare de Gregorio, Silvia Russo, Francesco Corrado, Antonino Saitta, Concetta Irace, Salvatore Corrao, Giuseppe Licata
Publicado em 2013Artigo -
16
(Epi)genotype–phenotype correlations in Beckwith–Wiedemann syndrome por Alessandro Mussa, Silvia Russo, Agostina De Crescenzo, Andrea Freschi, Luciano Calzari, Silvia Maitz, Marina Macchiaiolo, Cristina Molinatto, Giuseppina Baldassarre, Milena Mariani, Luigi Tarani, Maria Francesca Bedeschi, Donatella Milani, Daniela Melis, Andrea Bartuli, Maria Vittoria Cubellis, Angelo Selicorni, Margherita Silengo, Lidia Larizza, Andrea Riccio, Giovanni Battista Ferrero
Publicado em 2015Artigo -
17
Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith–Wiedemann syndrome por Jet Bliek, Gaetano Verde, Jonathan L A Callaway, Saskia M. Maas, Agostina De Crescenzo, Angela Sparago, Flavia Cerrato, Silvia Russo, Serena Ferraiuolo, Maria Michela Rinaldi, Rita Fischetto, Faustina Lalatta, Lucio Giordano, Paola Ferrari, Maria Vittoria Cubellis, Lidia Larizza, I. Karen Temple, Marcel M.A.M. Mannens, Deborah Mackay, Andrea Riccio
Publicado em 2008Artigo -
18
A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes por Silvia Russo, Luciano Calzari, Alessandro Mussa, Ester Mainini, Matteo Cassina, Stefania Di Candia, Maurizio Clementi, Sara Guzzetti, Silvia Tabano, Monica Miozzo, Silvia Maria Sirchia, Palma Finelli, Paolo Prontera, Silvia Maitz, Giovanni Sorge, Annalisa Calcagno, Mohamad Maghnie, Maria Teresa Divizia, Daniela Melis, Emanuela Manfredini, Giovanni Battista Ferrero, Vanna Pecile, Lidia Larizza
Publicado em 2016Artigo -
19
Nomenclature and definition in asymmetric regional body overgrowth por Jennifer M. Kalish, Leslie G. Biesecker, Frédéric Brioude, Matthew A. Deardorff, Alessandra Di Cesare‐Merlone, Todd E. Druley, Giovanni Battista Ferrero, Pablo Lapunzina, Lidia Larizza, Saskia M. Maas, Marina Macchiaiolo, Eamonn R. Maher, Silvia Maitz, Julian A. Martínez‐Agosto, Alessandro Mussa, Peter N. Robinson, Silvia Russo, Angelo Selicorni, Raoul C. M. Hennekam
Publicado em 2017Artigo -
20
EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver–Russell and Beckwith–Wiedemann syndrome por Katja Eggermann, Jet Bliek, Frédéric Brioude, Elizabeth M. Algar, Karin Buiting, Silvia Russo, Zeynep Tümer, David Monk, Gudrun E. Moore, Thalia Antoniadi, Fiona MacDonald, Irène Netchine, Paolo Lombardi, Lukas Soellner, Matthias Begemann, Dirk Prawitt, Eamonn R. Maher, Marcel M.A.M. Mannens, Andrea Riccio, Rosanna Weksberg, Pablo Lapunzina, Karen Grønskov, Deborah Mackay, Thomas Eggermann
Publicado em 2016Artigo
Ferramentas de busca:
Assuntos relacionados
Biology
Genetics
Gene
Medicine
DNA methylation
Gene expression
Internal medicine
Beckwith–Wiedemann syndrome
Genomic imprinting
Imprinting (psychology)
Phenotype
Pathology
Methylation
Pediatrics
Rett syndrome
Epilepsy
Human genetics
Locus (genetics)
Psychology
Bioinformatics
Cell biology
Endocrinology
Epigenetics
Law
MECP2
Mutation
Political science
Pregnancy
Allele
Alternative medicine