Pitfalls in the Diagnosis of Central Adrenal Insufficiency in Children

Por Kazlauskaite, Rasa, Maghnie, Mohamad
Publicado em 2009

Highly Conserved Non-Coding Sequences and the 18q Critical Region for Short Stature: A Common Mechanism of Disease?

Por Rizzolio, Flavio, Bione, Silvia, Sala, Cinzia, Tribioli, Carla, Ciccone, Roberto, Zuffardi, Orsetta, di Iorgi, Natascia, Maghnie, Mohamad, Toniolo, Daniela
Publicado em 2008

Advanced bone age in the affected side predicts worse radiographic progression in patients with juvenile idiopathic arthritis and unilateral wrist disease

Por Varnier, Giulia Camilla, Ullman, Nicola, Consolaro, Alessandro, Gastaldi, Roberto, Di iorgi, Natascia, Maghnie, Mohamad, Bava, Cecilia, Martini, Alberto, Ravelli, Angelo
Publicado em 2014

GH deficiency status combined with GH receptor polymorphism affects response to GH in children

Por Valsesia, Armand, Chatelain, Pierre, Stevens, Adam, Peterkova, Valentina A, Belgorosky, Alicia, Maghnie, Mohamad, Antoniazzi, Franco, Koledova, Ekaterina, Wojcik, Jerome, Farmer, Pierre, Destenaves, Benoit, Clayton, Peter
Publicado no Eur J Endocrinol (2015)

19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias

Por Gana, Simone, Veggiotti, Pierangelo, Sciacca, Giusy, Fedeli, Cristina, Bersano, Anna, Micieli, Giuseppe, Maghnie, Mohamad, Ciccone, Roberto, Rossi, Elena, Plunkett, Katie, Bi, Weimin, Sutton, Vernon R, Zuffardi, Orsetta
Publicado em 2012

A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes

Por Russo, Silvia, Calzari, Luciano, Mussa, Alessandro, Mainini, Ester, Cassina, Matteo, Di Candia, Stefania, Clementi, Maurizio, Guzzetti, Sara, Tabano, Silvia, Miozzo, Monica, Sirchia, Silvia, Finelli, Palma, Prontera, Paolo, Maitz, Silvia, Sorge, Giovanni, Calcagno, Annalisa, Maghnie, Mohamad, Divizia, Maria Teresa, Melis, Daniela, Manfredini, Emanuela, Ferrero, Giovanni Battista, Pecile, Vanna, Larizza, Lidia
Publicado no Clin Epigenetics (2016)

Erratum to: A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes

Por Russo, Silvia, Calzari, Luciano, Mussa, Alessandro, Mainini, Ester, Cassina, Matteo, Di Candia, Stefania, Clementi, Maurizio, Guzzetti, Sara, Tabano, Silvia, Miozzo, Monica, Sirchia, Silvia, Finelli, Palma, Prontera, Paolo, Maitz, Silvia, Sorge, Giovanni, Calcagno, Annalisa, Maghnie, Mohamad, Divizia, Maria Teresa, Melis, Daniela, Manfredini, Emanuela, Ferrero, Giovanni Battista, Pecile, Vanna, Larizza, Lidia
Publicado no Clin Epigenetics (2016)

Bridging the gap: metabolic and endocrine care of patients during transition

Por Hokken-Koelega, Anita, van der Lely, Aart-Jan, Hauffa, Berthold, Häusler, Gabriele, Johannsson, Gudmundur, Maghnie, Mohamad, Argente, Jesús, DeSchepper, Jean, Gleeson, Helena, Gregory, John W, Höybye, Charlotte, Keleştimur, Fahrettin, Luger, Anton, Müller, Hermann L, Neggers, Sebastian, Popovic-Brkic, Vera, Porcu, Eleonora, Sävendahl, Lars, Shalet, Stephen, Spiliotis, Bessie, Tauber, Maithé
Publicado no Endocr Connect (2016)

TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism

Por Harley, Margaret E., Murina, Olga, Leitch, Andrea, Higgs, Martin R., Bicknell, Louise S., Yigit, Gökhan, Blackford, Andrew N., Zlatanou, Anastasia, Mackenzie, Karen J., Reddy, Kaalak, Halachev, Mihail, McGlasson, Sarah, Reijns, Martin A. M., Fluteau, Adeline, Martin, Carol-Anne, Sabbioneda, Simone, Elcioglu, Nursel H., Altmüller, Janine, Thiele, Holger, Greenhalgh, Lynn, Chessa, Luciana, Maghnie, Mohamad, Salim, Mahmoud, Bober, Michael B., Nürnberg, Peter, Jackson, Stephen P., Hurles, Matthew E., Wollnik, Bernd, Stewart, Grant S., Jackson, Andrew P.
Publicado no Nat Genet (2015)