Works matching AU Coviello, Domenico

Results: 84

ABCB4 mutations in adult patients with cholestatic liver disease: impact and phenotypic expression.

Published in:

2016

By:

Degiorgio, Dario;
Crosignani, Andrea;
Colombo, Carla;
Bordo, Domenico;
Zuin, Massimo;
Vassallo, Emanuela;
Syrén, Marie-Louise;
Coviello, Domenico;
Battezzati, Pier;
Syrén, Marie-Louise;
Coviello, Domenico A;
Battezzati, Pier Maria

Publication type:

journal article

Use of parthenogenetic activation of human oocytes as an experimental model for evaluation of polar body based PGD assay performance.

Published in:

Journal of Assisted Reproduction & Genetics, 2011, v. 28, n. 5, p. 461, doi. 10.1007/s10815-011-9540-x

By:

Paffoni, Alessio;
Paracchini, Valentina;
Ferrari, Stefania;
Scarduelli, Claudia;
Seia, Manuela;
Coviello, Domenico;
Ragni, Guido

Publication type:

Article

Neurofibromatosis eurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patients (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #637 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/637.pdf)

Published in:

Human Mutation, 2003, v. 22, n. 2, p. 179, doi. 10.1002/humu.9166

By:

Paola Origone;
Carlo Bellini;
Debora Sambarino;
Barbara Banelli;
Guido Morcaldi;
Carmen La Rosa;
Franco Stanzial;
Claudio Castellan;
Domenico A. Coviello;
Cecilia Garrè;
Eugenio Bonioli

Publication type:

Article

Erratum: Neurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patients<FN ID="fn1">Communicated by Mark H. Paalman</FN><FN ID="fn2">Online Citation: Human Mutation, Mutation in Brief #656 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/656.pdf</FN>

Published in:

Human Mutation, 2003, v. 22, n. 4, p. 341, doi. 10.1002/humu.9185

By:

Paola Origone;
Carlo Bellini;
Debora Sambarino;
Barbara Banelli;
Guido Morcaldi;
Carmen La Rosa;
Franco Stanzial;
Claudio Castellan;
Domenico A. Coviello;
Cecilia Garrè;
Eugenio Bonioli

Publication type:

Article

Neurofibromatosis eurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patientsCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #637 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/637.pdf

Published in:

Human Mutation, 2003, v. 22, n. 2, p. 179, doi. 10.1002/humu.9166

By:

Paola Origone;
Carlo Bellini;
Debora Sambarino;
Barbara Banelli;
Guido Morcaldi;
Carmen La Rosa;
Franco Stanzial;
Claudio Castellan;
Domenico A. Coviello;
Cecilia Garrè;
Eugenio Bonioli

Publication type:

Article

Erratum: Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl co-transporter in Italian patients with Gitelman syndrome.

Published in:

Human Mutation, 2002, v. 20, n. 4, p. 321, doi. 10.1002/humu.9064

By:

Syrén, Marie-Louise;
Tedeschi, Silvana;
Cesareo, Laila;
Bellantuono, Rosa;
Colussi, Giacomo;
Procaccio, Mirella;
Alì, Anna;
Domenici, Raffaele;
Malberti, Fabio;
Sprocati, Monica;
Sacco, Michele;
Miglietti, Nunzia;
Edefonti, Alberto;
Sereni, Fabio;
Casari, Giorgio;
Coviello, Domenico A.;
Bettinelli, Alberto

Publication type:

Article

Ten novel mutations in the human neurofibromatosis type 1 (NF1) gene in Italian patients.

Published in:

Human Mutation, 2002, v. 20, n. 1, p. 74, doi. 10.1002/humu.9039

By:

Origone, Paola;
De Luca, Alessandro;
Bellini, Carlo;
Buccino, Anna;
Mingarelli, Rita;
Costabel, Simona;
La Rosa, Carmen;
Garrè, Cecilia;
Coviello, Domenico A.;
Ajmar, Franco;
Dallapiccola, Bruno;
Bonioli, Eugenio

Publication type:

Article

Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl Co-transporter in Italian patients with Gitelman syndrome.

Published in:

Human Mutation, 2002, v. 20, n. 1, p. 78, doi. 10.1002/humu.9045

By:

Syrén, Marie-Louise;
Tedeschi, Silvana;
Cesareo, Laila;
Bellantuono, Rosa;
Colussi, Giacomo;
Procaccio, Mirella;
Alì, Anna;
Domenici, Raffaele;
Malberti, Fabio;
Sprocati, Monica;
Sacco, Michele;
Miglietti, Nunzia;
Edefonti, Alberto;
Sereni, Fabio;
Casari, Giorgio;
Coviello, Domenico A.;
Bettinelli, Alberto

Publication type:

Article

Incidental Detection of a Chromosomal Aberration by Array-CGH in an Early Prenatal Diagnosis for Monogenic Disease on Coelomic Fluid.

Published in:

Life (2075-1729), 2023, v. 13, n. 1, p. 20, doi. 10.3390/life13010020

By:

Vinciguerra, Margherita;
Leto, Filippo;
Cassarà, Filippo;
Tartaglia, Viviana;
Malacarne, Michela;
Coviello, Domenico;
Cigna, Valentina;
Orlandi, Emanuela;
Picciotto, Francesco;
Cucinella, Gaspare;
Salzano, Emanuela;
Piccione, Maria;
Maggio, Aurelio;
Giambona, Antonino

Publication type:

Article

Sleep disturbances and behavioral symptoms in pediatric Sotos syndrome.

Published in:

Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1360055

By:

Frattale, Ilaria;
Sarnataro, Rachele;
Siracusano, Martina;
Riccioni, Assia;
Galasso, Cinzia;
Valeriani, Massimiliano;
Conteduca, Giuseppina;
Coviello, Domenico;
Mazzone, Luigi;
Moavero, Romina

Publication type:

Article

Relevance of Next-Generation Sequencing in the Diagnosis of Thalassemia and Hemoglobinopathies: The Experience of Four Italian Diagnostic Hubs.

Published in:

Genes, 2025, v. 16, n. 1, p. 28, doi. 10.3390/genes16010028

By:

Selvatici, Rita;
Guida, Valentina;
Maffei, Massimo;
Irrera, Milena Agata;
Margutti, Alice;
Bisceglia, Paola;
Mogni, Massimo;
Melchionda, Erica;
Stoico, Giuseppina;
Grifone, Nicoletta;
Bocciardo, Laura;
Salerio, Simone;
Nagliati, Vittoria;
Alberico, Angela;
Tringali, Giusy;
Melles, Cristina;
De Luca, Alessandro;
Ferlini, Alessandra;
Coviello, Domenico;
Curcio, Cristina

Publication type:

Article

Impact of NSD1 Alternative Transcripts in Actin Filament Formation and Cellular Division Pathways in Fibroblasts.

Published in:

Genes, 2024, v. 15, n. 9, p. 1117, doi. 10.3390/genes15091117

By:

Conteduca, Giuseppina;
Cangelosi, Davide;
Baldo, Chiara;
Arado, Alessia;
Testa, Barbara;
Wagner, Ryan T.;
Robertson, Keith D.;
Dequiedt, Franck;
Fitzsimmons, Lane;
Malacarne, Michela;
Filaci, Gilberto;
Coviello, Domenico A.

Publication type:

Article

Exome Analysis Reveals Novel Missense and Deletion Variants in the CC2D2A Gene as Causative of Joubert Syndrome.

Published in:

2023

By:

Cabrita Pinto, Rute Luísa;
Viaggi, Silvia;
Canale, Edoardo;
Martinez Popple, Marina;
Capra, Valeria;
Conteduca, Giuseppina;
Testa, Barbara;
Coviello, Domenico;
Covone, Angela Elvira

Publication type:

Case Study

Molecular Analysis and Reclassification of NSD1 Gene Variants in a Cohort of Patients with Clinical Suspicion of Sotos Syndrome.

Published in:

Genes, 2023, v. 14, n. 2, p. 295, doi. 10.3390/genes14020295

By:

Testa, Barbara;
Conteduca, Giuseppina;
Grasso, Marina;
Cecconi, Massimiliano;
Lantieri, Francesca;
Baldo, Chiara;
Arado, Alessia;
Andraghetti, Laura;
Malacarne, Michela;
Milani, Donatella;
Coviello, Domenico

Publication type:

Article

Hemoglobin A 2 and Heterogeneous Diagnostic Relevance Observed in Eight New Variants of the Delta Globin Gene.

Published in:

Genes, 2021, v. 12, n. 11, p. 1821, doi. 10.3390/genes12111821

By:

Mahmud, Noraesah;
Maffei, Massimo;
Mogni, Massimo;
Forni, Gian Luca;
Pinto, Valeria Maria;
Barberio, Giuseppina;
Ungari, Silvana;
Maffè, Antonella;
Curcio, Cristina;
Zanolli, Francesco;
Paventa, Raffaella;
Carta, Mariarosa;
Caleffi, Alberta;
Mercadanti, Mariella;
Maoggi, Sauro;
Ivaldi, Giovanni;
Coviello, Domenico

Publication type:

Article

Genetic and Molecular Evaluation: Reporting Three Novel Mutations and Creating Awareness of Pycnodysostosis Disease.

Published in:

Genes, 2021, v. 12, n. 10, p. 1552, doi. 10.3390/genes12101552

By:

Sayed Amr, Khalda;
El-Bassyouni, Hala T.;
Abdel Hady, Sawsan;
Mostafa, Mostafa I.;
Mehrez, Mennat I.;
Coviello, Domenico;
El-Kamah, Ghada Y.

Publication type:

Article

Genetic education and the challenge of genomic medicine: development of core competences to support preparation of health professionals in Europe.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 9, p. 972, doi. 10.1038/ejhg.2010.64

By:

Skirton, Heather;
Lewis, Celine;
Kent, Alastair;
Coviello, Domenico A.

Publication type:

Article

EuroGentest patient information leaflets: a free resource available in over 20 languages.

Published in:

2009

By:

Lewis, Celine;
Kent, Alastair;
Skirton, Heather;
Coviello, Domenico

Publication type:

Letter

Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3).

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 12, p. 1230, doi. 10.1038/sj.ejhg.5201908

By:

Degiorgio, Dario;
Colombo, Carla;
Seia, Manuela;
Porcaro, Luigi;
Costantino, Lucy;
Zazzeron, Laura;
Bordo, Domenico;
Coviello, Domenico A.

Publication type:

Article

Genetic testing and counselling in Europe: health professionals current educational provision, needs assessment and potential strategies for the future.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 12, p. 1203, doi. 10.1038/sj.ejhg.5201927

By:

Coviello, Domenico A.;
Skirton, Heather;
Ceratto, Nadia;
Lewis, Celine;
Kent, Alastair

Publication type:

Article

Consent and confidentiality: Consent and Confidentiality in Genetic Practice.

Published in:

2007

By:

Coviello, Domenico

Publication type:

Book Review

An assessment of written patient information provided at the genetic clinic and relating to genetic testing in seven European countries.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 10, p. 1012, doi. 10.1038/sj.ejhg.5201874

By:

Lewis, Celine;
Mehta, Pritti;
Kent, Alastair;
Skirton, Heather;
Coviello, Domenico

Publication type:

Article

The interface between assisted reproductive technologies and genetics: technical, social, ethical and legal issues.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 5, p. 588, doi. 10.1038/sj.ejhg.5201598

By:

Soini, Sirpa;
Ibarreta, Dolores;
Anastasiadou, Violetta;
Aymé, Ségolène;
Braga, Suzanne;
Cornel, Martina;
Coviello, Domenico A;
Evers-Kiebooms, Gerry;
Geraedts, Joep;
Gianaroli, Luca;
Harper, Joyce;
Kosztolanyi, György;
Lundin, Kersti;
Rodrigues-Cerezo, Emilio;
Sermon, Karen;
Sequeiros, Jorge;
Tranebjaerg, Lisbeth;
Kääriäinen, Helena

Publication type:

Article

Provision of genetic services in Europe: current practices and issues.

Published in:

European Journal of Human Genetics, 2003, v. 11, p. S13, doi. 10.1038/sj.ejhg.5201111

By:

Godard, Béatrice;
Kääriäinen, Helena;
Kristoffersson, Ulf;
Tranebjaerg, Lisbeth;
Coviello, Domenico;
Aymé, Ségolène

Publication type:

Article

Neonatal death of siblings with Uhl's disease and KCNH2 mutation - A rare association.

Published in:

Annals of Pediatric Cardiology, 2024, v. 17, n. 4, p. 292, doi. 10.4103/apc.apc_122_24

By:

Ventura, Francesco;
Barranco, Rosario;
Buffelli, Francesca;
Fulcheri, Ezio;
Coviello, Domenico;
Palmieri, Antonella

Publication type:

Article

Copy number variations in candidate genomic regions confirm genetic heterogeneity and parental bias in Hirschsprung disease.

Published in:

2019

By:

Lantieri, Francesca;
Gimelli, Stefania;
Viaggi, Chiara;
Stathaki, Elissavet;
Malacarne, Michela;
Santamaria, Giuseppe;
Grossi, Alice;
Mosconi, Manuela;
Sloan-Béna, Frédérique;
Prato, Alessio Pini;
Coviello, Domenico;
Ceccherini, Isabella

Publication type:

journal article

Discordant prenatal phenotype and karyotype of monozygotic twins characterized by the unequal distribution of two cell lines investigated by different methods: a review.

Published in:

2008

By:

Gentilin, Barbara;
Guerneri, Silvana;
Bianchi, Vera;
Natacci, Federica;
Colombo, Augusto;
Fogliani, Roberto;
Fortuna, Renato;
Coviello, Domenico A.;
Curcio, Cristina;
Lalatta, Faustina

Publication type:

journal article

Diagnostic yield and predictive value on left ventricular remodelling of genetic testing in dilated cardiomyopathy.

Published in:

ESC Heart Failure, 2023, v. 10, n. 4, p. 2745, doi. 10.1002/ehf2.14395

By:

Bertero, Edoardo;
Fracasso, Giulia;
Eustachi, Virginia;
Coviello, Domenico;
Cecconi, Massimiliano;
Giovinazzo, Stefano;
Toma, Matteo;
Merlo, Marco;
Sinagra, Gianfranco;
Porto, Italo;
Ameri, Pietro;
Canepa, Marco

Publication type:

Article

Common conditions of use elements. Atomic concepts for consistent and effective information governance.

Published in:

Scientific Data, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41597-024-03279-z

By:

Sanchez Gonzalez, Maria del Carmen;
Kamerling, Pim;
Iermito, Mariapia;
Casati, Sara;
Riaz, Umar;
Veal, Colin D.;
Maini, Monika;
Jeanson, Francis;
Benhamed, Oussama Mohammed;
van Enckevort, Esther;
Landi, Annalisa;
Mimouni, Yanis;
Le Cornec, Clèmence;
Coviello, Domenico A.;
Franchin, Tiziana;
Fusco, Francesca;
Ramírez García, Jose Antonio;
van der Zanden, Loes F. M.;
Bernier, Alexander;
Wilkinson, Mark D.

Publication type:

Article

First Characterization of Human Amniotic Fluid Stem Cell Extracellular Vesicles as a Powerful Paracrine Tool Endowed with Regenerative Potential.

Published in:

Stem Cells Translational Medicine, 2017, v. 6, n. 5, p. 1340, doi. 10.1002/sctm.16-0297

By:

Balbi, Carolina;
Piccoli, Martina;
Barile, Lucio;
Papait, Andrea;
Armirotti, Andrea;
Principi, Elisa;
Reverberi, Daniele;
Pascucci, Luisa;
Becherini, Pamela;
Varesio, Luigi;
Mogni, Massimo;
Coviello, Domenico;
Bandiera, Tiziano;
Pozzobon, Michela;
Cancedda, Ranieri;
Bollini, Sveva

Publication type:

Article

A longitudinal characterization of the adaptive and behavioral profile in Sotos syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63553

By:

Siracusano, Martina;
Dante, Caterina;
Sarnataro, Rachele;
Arturi, Lucrezia;
Riccioni, Assia;
Carloni, Elisa;
Cicala, Mariagrazia;
Gialloreti, Leonardo Emberti;
Galasso, Cinzia;
Conteduca, Giuseppina;
Coviello, Domenico;
Mazzone, Luigi

Publication type:

Article

Cognitive, adaptive and behavioral profile in Sotos syndrome children with 5q35 microdeletion or intragenic variants.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1836, doi. 10.1002/ajmg.a.63211

By:

Siracusano, Martina;
Riccioni, Assia;
Frattale, Ilaria;
Arturi, Lucrezia;
Dante, Caterina;
Galasso, Cinzia;
Gialloreti, Leonardo Emberti;
Conteduca, Giuseppina;
Testa, Barbara;
Malacarne, Michela;
Coviello, Domenico;
Mazzone, Luigi

Publication type:

Article

Aortic dilation in Sotos syndrome: An underestimated feature?

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1819, doi. 10.1002/ajmg.a.61591

By:

Pezzani, Lidia;
Mauri, Lucia;
Selicorni, Angelo;
Peron, Angela;
Grasso, Marina;
Codazzi, Alessia C.;
Rimini, Alessandro;
Marchisio, Paola G.;
Coviello, Domenico;
Colli, Anna;
Milani, Donatella

Publication type:

Article

Duplications upstream and downstream of SHOX identified as novel causes of Leri-Weill dyschondrosteosis or idiopathic short stature.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 949, doi. 10.1002/ajmg.a.37524

By:

Bunyan, David J.;
Baffico, Maria;
Capone, Lucia;
Vannelli, Silvia;
Iughetti, Lorenzo;
Schmitt, Sébastien;
Taylor, Emma‐Jane;
Herridge, Adam A.;
Shears, Deborah;
Forabosco, Antonino;
Coviello, Domenico A.

Publication type:

Article

Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy.

Published in:

International Journal of Molecular Medicine, 2016, v. 38, n. 4, p. 1111, doi. 10.3892/ijmm.2016.2732

By:

CECCONI, MASSIMILIANO;
PARODI, MARIA I.;
FORMISANO, FRANCESCO;
SPIRITO, PAOLO;
AUTORE, CAMILLO;
MUSUMECI, MARIA B.;
FAVALE, STEFANO;
FORLEO, CINZIA;
RAPEZZI, CLAUDIO;
BIAGINI, ELENA;
DAVÌ, SABRINA;
CANEPA, ELISABETTA;
PENNESE, LOREDANA;
CASTAGNETTA, MAURO;
DEGIORGIO, DARIO;
COVIELLO, DOMENICO A.

Publication type:

Article

CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.

Published in:

Brain: A Journal of Neurology, 2023, v. 146, n. 2, p. 534, doi. 10.1093/brain/awac278

By:

Pavinato, Lisa;
Vedove, Andrea Delle;
Carli, Diana;
Ferrero, Marta;
Carestiato, Silvia;
Howe, Jennifer L;
Agolini, Emanuele;
Coviello, Domenico A;
van de Laar, Ingrid;
Au, Ping Yee Billie;
Gregorio, Eleonora Di;
Fabbiani, Alessandra;
Croci, Susanna;
Mencarelli, Maria Antonietta;
Bruno, Lucia P;
Renieri, Alessandra;
Veltra, Danai;
Sofocleous, Christalena;
Faivre, Laurence;
Mazel, Benoit

Publication type:

Article

Reverse-transcriptase polymerase chain reaction of the maspin gene in the detection of bone marrow breast carcinoma cell contamination.

Published in:

2001

By:

Ballestrero, Alberto;
Coviello, Domenico A.;
Garuti, Anna;
Nencioni, Alessio;
Famà, Anna;
Rocco, Ilaria;
Bertorelli, Roberto;
Ferrando, Fabio;
Gonella, Roberta;
Patrone, Franco;
Ballestrero, A;
Coviello, D A;
Garuti, A;
Nencioni, A;
Famà, A;
Rocco, I;
Bertorelli, R;
Ferrando, F;
Gonella, R;
Patrone, F

Publication type:

journal article

Expanding the phenotype associated with interstitial 6p25.1p24.3 microdeletion: a new case and review of the literature.

Published in:

Journal of Genetics, 2021, v. 100, n. 1, p. 1, doi. 10.1007/s12041-021-01261-x

By:

Tassano, Elisa;
Uccella, Sara;
Severino, Mariasavina;
Giacomini, Thea;
Nardi, Francesca;
Gimelli, Giorgio;
Tavella, Elisa;
Ronchetto, Patrizia;
Malacarne, Michela;
Coviello, Domenico

Publication type:

Article

Phorbol diester 12-O-tetradecanoylphorbol 13-acetate (TPA) up-regulates the expression of estrogen receptors in human THP-1 leukemia cells.

Published in:

Journal of Cellular Biochemistry, 2001, v. 83, n. 3, p. 390, doi. 10.1002/jcb.1237

By:

Cutolo, Maurizio;
Carruba, Giuseppe;
Villaggio, Barbara;
Coviello, Domenico A.;
Dayer, Jean-Michel;
Campisi, Ildegarda;
Miele, Monica;
Stefano, Rosalba;
Castagnetta, Luigi A.M.

Publication type:

Article

Multidisciplinary study of sudden unexpected infant death in Liguria (Italy): a nine-year report.

Published in:

Minerva Pediatrics, 2021, v. 73, n. 5, p. 435, doi. 10.23736/S2724-5276.20.05599-1

By:

VENTURA, Francesco;
BARRANCO, Rosario;
SMITH, Anna;
CECCHERINI, Isabella;
BANDETTINI, Roberto;
COVIELLO, Domenico;
MORANDO, Anna;
NOZZA, Paolo;
BUFFELLI, Francesca;
FULCHERI, Ezio;
PALMIERI, Antonella

Publication type:

Article

The human amniotic fluid stem cell secretome effectively counteracts doxorubicin-induced cardiotoxicity.

Published in:

Scientific Reports, 2016, p. 29994, doi. 10.1038/srep29994

By:

Lazzarini, Edoardo;
Balbi, Carolina;
Altieri, Paola;
Pfeffer, Ulrich;
Gambini, Elisa;
Canepa, Marco;
Varesio, Luigi;
Bosco, Maria Carla;
Coviello, Domenico;
Pompilio, Giulio;
Brunelli, Claudio;
Cancedda, Ranieri;
Ameri, Pietro;
Bollini, Sveva

Publication type:

Article

Psychiatric genetic counseling: A mapping exercise.

Published in:

American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2019, v. 180, n. 8, p. 523, doi. 10.1002/ajmg.b.32735

By:

Moldovan, Ramona;
McGhee, Kevin A.;
Coviello, Domenico;
Hamang, Anniken;
Inglis, Angela;
Ingvoldstad Malmgren, Charlotta;
Johansson‐Soller, Maria;
Laurino, Mercy;
Meiser, Bettina;
Murphy, Lauren;
Paneque, Milena;
Papsuev, Oleg;
Pawlak, Joanna;
Rovira Moreno, Eulàlia;
Serra‐Juhe, Clara;
Shkedi‐Rafid, Shiri;
Laing, Nakita;
Voelckel, Marie‐Antoinette;
Watson, Melanie;
Austin, Jehannine C.

Publication type:

Article

Banking together. A unified model of informed consent for biobanking.

Published in:

EMBO Reports, 2008, v. 9, n. 4, p. 307, doi. 10.1038/embor.2008.41

By:

Salvaterra, Elena;
Lecchi, Lucilla;
Giovanelli, Silvia;
Butti, Barbara;
Bardella, Maria Teresa;
Bertazzi, Pier Alberto;
Bosari, Silvano;
Coggi, Guido;
Coviello, Domenico A;
Lalatta, Faustina;
Moggio, Maurizio;
Nosotti, Mario;
Zanella, Alberto;
Rebulla, Paolo

Publication type:

Article

Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array‐based detection rate.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1056

By:

Catusi, Ilaria;
Recalcati, Maria Paola;
Bestetti, Ilaria;
Garzo, Maria;
Valtorta, Chiara;
Alfonsi, Melissa;
Alghisi, Alberta;
Cappellani, Stefania;
Casalone, Rosario;
Caselli, Rossella;
Ceccarini, Caterina;
Ceglia, Carlo;
Ciaschini, Anna Maria;
Coviello, Domenico;
Crosti, Francesca;
D'Aprile, Annamaria;
Fabretto, Antonella;
Genesio, Rita;
Giagnacovo, Marzia;
Granata, Paola

Publication type:

Article

Early Onset of Wilson's Disease and Possible Role of Disease‐Modifying Genes: A Case Report and Literature Review.

Published in:

2024

By:

La Rosa, Alessandro;
Covone, Angela Elvira;
Coviello, Domenico;
Arrigo, Serena;
Ferro, Jacopo;
Gandullia, Paolo;
Madeo, Annalisa;
Snyder, Ned

Publication type:

Case Study

The Human Fetal and Adult Stem Cell Secretome Can Exert Cardioprotective Paracrine Effects against Cardiotoxicity and Oxidative Stress from Cancer Treatment.

Published in:

Cancers, 2021, v. 13, n. 15, p. 3729, doi. 10.3390/cancers13153729

By:

Villa, Federico;
Bruno, Silvia;
Costa, Ambra;
Li, Mingchuan;
Russo, Michele;
Cimino, James;
Altieri, Paola;
Ruggeri, Clarissa;
Gorgun, Cansu;
De Biasio, Pierangela;
Paladini, Dario;
Coviello, Domenico;
Quarto, Rodolfo;
Ameri, Pietro;
Ghigo, Alessandra;
Ravera, Silvia;
Tasso, Roberta;
Bollini, Sveva

Publication type:

Article

Secondary Somatic Mutations in G-Protein-Related Pathways and Mutation Signatures in Uveal Melanoma.

Published in:

Cancers, 2019, v. 11, n. 11, p. 1688, doi. 10.3390/cancers11111688

By:

Piaggio, Francesca;
Tozzo, Veronica;
Bernardi, Cinzia;
Croce, Michela;
Puzone, Roberto;
Viaggi, Silvia;
Patrone, Serena;
Barla, Annalisa;
Coviello, Domenico;
J. Jager, Martine;
van der Velden, Pieter A.;
Zeschnigk, Michael;
Cangelosi, Davide;
Eva, Alessandra;
Pfeffer, Ulrich;
Amaro, Adriana

Publication type:

Article

Global Globin Network and adopting genomic variant database requirements for thalassemia.

Published in:

Database: The Journal of Biological Databases & Curation, 2024, v. 2024, p. 1, doi. 10.1093/database/baae080

By:

Halim-Fikri, Hashim;
Zulkipli, Ninie Nadia;
Alauddin, Hafiza;
Bento, Celeste;
Lederer, Carsten W;
Kountouris, Petros;
Kleanthous, Marina;
Hernaningsih, Yetti;
Thong, Meow-Keong;
Mahmood, Muhammad Hamdi;
Yasin, Norafiza Mohd;
Esa, Ezalia;
Elion, Jacques;
Coviello, Domenico;
Raja-Sabudin, Raja-Zahratul-Azma;
El-Kamah, Ghada;
Burn, John;
Yusoff, Narazah Mohd;
Ramesar, Raj;
Zilfalil, Bin Alwi

Publication type:

Article

Two ABCB4 point mutations of strategic NBD-motifs do not prevent protein targeting to the plasma membrane but promote MDR3 dysfunction.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 5, p. 633, doi. 10.1038/ejhg.2013.214

By:

Degiorgio, Dario;
Corsetto, Paola A;
Rizzo, Angela M;
Colombo, Carla;
Seia, Manuela;
Costantino, Lucy;
Montorfano, Gigliola;
Tomaiuolo, Rossella;
Bordo, Domenico;
Sansanelli, Serena;
Li, Min;
Tavian, Daniela;
Rastaldi, Maria P;
Coviello, Domenico A

Publication type:

Article

Interstitial 2q24.2q24.3 Microdeletion: Two New Cases with Similar Clinical Features with the Exception of Profound Deafness.

Published in:

Cytogenetic & Genome Research, 2022, v. 162, n. 3, p. 132, doi. 10.1159/000525181

By:

Tassano, Elisa;
Uccella, Sara;
Ronchetto, Patrizia;
Martinheira Da Silva, Joana Soraia;
Viaggi, Silvia;
Mancardi, Margherita;
Ramenghi, Luca;
Murri, Alessandra;
Biondi, Marina;
Gimelli, Giorgio;
Morerio, Cristina;
Malacarne, Michela;
Coviello, Domenico

Publication type:

Article