Hereditary Hemorrhagic Telangiectasia in Pediatric Age: Focus on Genetics and Diagnosis by Cesare Danesino, Claudia Cantarini, Carla Olivieri

Get full text

Vitamin B6 Neonatal Toxicity by Andrea Guala, Giulia Folgori, Micaela Silvestri, Michelangelo Barbaglia, Cesare Danesino

Get full text

Rapunzel syndrome: how to orient the diagnosis by Enrico Finale, Piergiorgio Franceschini, Cesare Danesino, Michelangelo Barbaglia, Andrea Guala

Get full text

Epidermal growth factor receptor overexpression/amplification in adenocarcinomas arising in the gastrointestinal tract Sobre-expresión amplificación del receptor del factor de crec... by Elisa Rossi, Vincenzo Villanacci, Cesare Danesino, Francesco Donato, Riccardo Nascimbeni, Gabrio Bassotti

Get full text

Children and adults affected by Cri du Chat syndrome: Care's recommendations by Maria Elena Liverani, Alice Spano, Cesare Danesino, Michela Malacarne, Simona Cavani, Marianna Spunton, Andrea Guala

Get full text

Phenotypic Variation in Two Siblings Affected with Shwachman-Diamond Syndrome: The Use of Expert Variant Interpreter (eVai) Suggests Clinical Relevance of a Variant in the KMT2A Ge... by Ibrahim Taha, Federica De Paoli, Selena Foroni, Susanna Zucca, Ivan Limongelli, Marco Cipolli, Cesare Danesino, Ugo Ramenghi, Antonella Minelli

Get full text

Growth Charts for Shwachman–Diamond Syndrome at Ages 0 to 18 Years by Anna Pegoraro, Valentino Bezzerri, Gloria Tridello, Cecilia Brignole, Francesca Lucca, Emily Pintani, Cesare Danesino, Simone Cesaro, Francesca Fioredda, Marco Cipolli

Get full text

Esophageal Cancer with Early Onset in a Patient with Cri du Chat Syndrome by Cesare Danesino, Monica Gualtierotti, Matteo Origi, Angelina Cistaro, Michela Malacarne, Matteo Massidda, Katia Bencardino, Domenico Coviello, Giovanni Albani, Irene Giovanna Schiera, Alexandra Liava, Andrea Guala

Get full text

Case Report: Heterozygous Germline Variant in EIF6 Additional to Biallelic SBDS Pathogenic Variants in a Patient With Ribosomopathy Shwachman–Diamond Syndrome by Ibrahim Taha, Selena Foroni, Roberto Valli, Annalisa Frattini, Annalisa Frattini, Pamela Roccia, Giovanni Porta, Marco Zecca, Elena Bergami, Marco Cipolli, Francesco Pasquali, Cesare Danesino, Claudia Scotti, Antonella Minelli

Get full text

Different forms of pulmonary hypertension in a family with clinical and genetic evidence for hereditary hemorrhagic teleangectasia type 2 by Alessandra Greco, Sara Plumitallo, Laura Scelsi, Giannantonio Maggi, Matteo Sobrero, Annalisa Turco, Claudia Raineri, Natalia Arseni, Donata Cappelletti, Luigi Oltrona Visconti, Fabio Pagella, Giuseppe Spinozzi, Stefano Ghio, Carla Olivieri, Cesare Danesino

Get full text

Microarray expression studies on bone marrow of patients with Shwachman-Diamond syndrome in relation to deletion of the long arm of chromosome 20, other chromosome anomalies or nor... by Abdul Waheed Khan, Antonella Minelli, Annalisa Frattini, Giuseppe Montalbano, Alessia Bogni, Marco Fabbri, Giovanni Porta, Francesco Acquati, Rita Maria Pinto, Elena Bergami, Rossella Mura, Anna Pegoraro, Simone Cesaro, Marco Cipolli, Marco Zecca, Cesare Danesino, Franco Locatelli, Emanuela Maserati, Francesco Pasquali, Roberto Valli

Get full text

Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD) by Paola De Filippi, Edoardo Errichiello, Antonio Toscano, Tiziana Mongini, Maurizio Moggio, Sabrina Ravaglia, Massimiliano Filosto, Serenella Servidei, Olimpia Musumeci, Fabio Giannini, Alberto Piperno, Gabriele Siciliano, Giulia Ricci, Antonio Di Muzio, Miriam Rigoldi, Paola Tonin, Michele Giovanni Croce, Elena Pegoraro, Luisa Politano, Lorenzo Maggi, Roberta Telese, Alberto Lerario, Cristina Sancricca, Liliana Vercelli, Claudio Semplicini, Barbara Pasanisi, Bruno Bembi, Andrea Dardis, Ilaria Palmieri, Cristina Cereda, Enza Maria Valente, Cesare Danesino

Get full text

Identification of rare sequence variation underlying heritable pulmonary arterial hypertension by Stefan Gräf, Matthias Haimel, Marta Bleda, Charaka Hadinnapola, Laura Southgate, Wei Li, Joshua Hodgson, Bin Liu, Richard M. Salmon, Mark Southwood, Rajiv D. Machado, Jennifer M. Martin, Carmen M. Treacy, Katherine Yates, Louise C. Daugherty, Olga Shamardina, Deborah Whitehorn, Simon Holden, Micheala Aldred, Harm J. Bogaard, Colin Church, Gerry Coghlan, Robin Condliffe, Paul A. Corris, Cesare Danesino, Mélanie Eyries, Henning Gall, Stefano Ghio, Hossein-Ardeschir Ghofrani, J. Simon R. Gibbs, Barbara Girerd, Arjan C. Houweling, Luke Howard, Marc Humbert, David G. Kiely, Gabor Kovacs, Robert V. MacKenzie Ross, Shahin Moledina, David Montani, Michael Newnham, Andrea Olschewski, Horst Olschewski, Andrew J. Peacock, Joanna Pepke-Zaba, Inga Prokopenko, Christopher J. Rhodes, Laura Scelsi, Werner Seeger, Florent Soubrier, Dan F. Stein, Jay Suntharalingam, Emilia M. Swietlik, Mark R. Toshner, David A. van Heel, Anton Vonk Noordegraaf, Quinten Waisfisz, John Wharton, Stephen J. Wort, Willem H. Ouwehand, Nicole Soranzo, Allan Lawrie, Paul D. Upton, Martin R. Wilkins, Richard C. Trembath, Nicholas W. Morrell

Get full text