IRIS

MAGHNIE, MOHAMAD

MAGHNIE, MOHAMAD  

100009 - Dipartimento di Neuroscienze, Riabilitazione, Oftalmologia, Genetica e Scienze Materno-Infantili  

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Titolo Data di pubblicazione Autore(i) File
"Do no harm": workshop on the management of craniopharyngioma. 1-gen-2008 Gleeson, H; Amin, R; Maghnie, Mohamad
"Pesto" Mutation: Phenotypic and Genotypic Characteristics of Eight GCK/MODY Ligurian Patients 1-gen-2023 Salina, Alessandro; Bassi, Marta; Aloi, Concetta; Strati, Marina Francesca; Bocciardi, Renata; D'Annunzio, Giuseppe; Maghnie, Mohamad; Minuto, Nicola
19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias. 1-gen-2012 Gana, S; Veggiotti, P; Sciacca, G; Fedeli, C; Bersano, A; Micieli, G; Maghnie, Mohamad; Ciccone, R; Rossi, E; Plunkett, K; Bi, W; Sutton, Vr; Zuffardi, O.
[Effects of chorionic gonadotropin (hCG) therapy on the immune system]. 1-gen-1990 Maghnie, Mohamad; Valtorta, A; Moretta, A; Priora, C; Preti, P.
[Evaluation of humoral immunity in children with growth hormone deficiency]. 1-gen-1988 Moretta, A; Valtorta, A; Maghnie, Mohamad; Biscaldi, I; Girani, Ma; Cerbo, Rm
A "hot spot" in the Pit-1 gene responsible for combined pituitary hormone deficiency: clinical and molecular correlates. 1-gen-1995 Cohen, Le; Wondisford, Fe; Salvatoni, A; Maghnie, Mohamad; Brucker Davis, F; Weintraub, Bd; Radovick, S.
A case of interference in testosterone, DHEA-S and progesterone measurements by second generation immunoassays 1-gen-2021 Cresta, F.; Arcuri, L.; Bianchin, S.; Castellani, C.; Casciaro, R.; Cavedagna, T. M.; Maghnie, M.; Barco, S.; Cangemi, G.
A case of multiple intestinal atresias, brain anomalies, mental retardation, growth hormone deficiency and clitoris hypertrophy. 1-gen-1998 Guala, A; Licardi, G; Maghnie, Mohamad; Minniti, S; Danesino, C.
A large-scale association study to assess the impact of known variants of the human INHA gene on premature ovarian failure. 1-gen-2009 Corre, T; Schuettler, J; Bione, S; Marozzi, A; Persani, L; Rossetti, R; Torricelli, F; Giotti, I; Vogt, P; Toniolo, D; Maghnie, Mohamad
A longitudinal printo study on growth and puberty in juvenile systemic lupus erythematosus. 1-gen-2012 Rygg, M; Pistorio, A; Ravelli, Angelo; Maghnie, Mohamad; DI IORGI, Natascia; Bader Meunier, B; Da Silva, C; Roldan Molina, R; Barash, J; Dracou, C; Gandom Laloum, S; Jarosova, K; Job Deslandre, C; Kone Paut, I; Garofalo, F; Press, J; Sengler, C; Tauber, T; Martini, Alberto; Ruperto, N.
A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-€“Russell and Beckwith-€“Wiedemann syndromes 1-gen-2016 Russo, S; Calzari, L; Mussa, A; Mainini, E; Cassina, M; Di Candia, S; Clementi, M; Guzzetti, Sara; Tabano, S; Miozzo, M; Sirchia, S; Finelli, P; Prontera, P; Maitz, S; Sorge, G; Calcagno, A; Maghnie, M; Divizia, Mt; Melis, D; Manfredini, E; Ferrero, Gb; Pecile, V; Larizza, L.
A new DLK1 defect in a family with idiopathic central precocious puberty: elucidation of the male phenotype 1-gen-2022 Palumbo, S; Cirillo, G; Sanchez, G; Aiello, F; Fachin, A; Baldo, F; Pellegrin, M C; Cassio, A; Salerno, M; Maghnie, M; Faienza, M F; Wasniewska, M; Fintini, D; Giacomozzi, C; Ciccone, S; Miraglia Del Giudice, E; Tornese, G; Grandone, A
A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusion 1-gen-2019 Scala, M.; Accogli, A.; De Grandis, E.; Allegri, A.; Bagowski, C.; Shoukier, M.; Maghnie, M.; Capra, V.
A novel pathogenic MYH3 mutation in a child with Sheldon–Hall syndrome and vertebral fusions 1-gen-2018 Scala, Marcello; Accogli, Andrea; De Grandis, Elisa; Allegri, Anna; Bagowski, Christoph P.; Shoukier, Moneef; Maghnie, Mohamad; Capra, Valeria
Accuracy and limitations of the growth hormone (GH) releasing hormone-arginine retesting in young adults with childhood-onset GH deficiency 1-gen-2019 Patti, G.; Noli, S.; Capalbo, D.; Allegri, A. M. E.; Napoli, F.; Cappa, M.; Ubertini, G. M.; Gallizia, A.; Notarnicola, S.; Ibba, A.; Crocco, M.; Parodi, S.; Salerno, M.; Loche, S.; Garre, M. L.; Tornari, E.; Maghnie, M.; Iorgi, N. D.
Addressing gaps in care of people with conditions affecting sex development and maturation 1-gen-2019 Hiort, O.; Cools, M.; Springer, A.; Mcelreavey, K.; Greenfield, A.; Wudy, S. A.; Kulle, A.; Ahmed, S. F.; Dessens, A.; Balsamo, A.; Maghnie, M.; Bonomi, M.; Dattani, M.; Persani, L.; Audi, L.
Adenosine Blood Level: A Biomarker of White Matter Damage in Very Low Birth Weight Infants 1-gen-2022 Colella, Marina; Panfoli, Isabella; Doglio, Matteo; Cassanello, Michela; Bruschi, Maurizio; Angelis, Laura C De; Candiano, Giovanni; Parodi, Alessandro; Malova, Mariya; Petretto, Andrea; Morana, Giovanni; Tortora, Domenico; Severino, Mariasavina; Maghnie, Mohamad; Buonocore, Giuseppe; Rossi, Andrea; Baud, Oliver; Ramenghi, Luca A
Adherence in children with growth hormone deficiency treated with r-hGH and the easypod™ device 1-gen-2016 Loche, S.; Salerno, M.; Garofalo, P.; Cardinale, G. M.; Licenziati, Mr; Citro, G.; Caruso Nicoletti, M.; Cappa, M.; Longobardi, S.; Maghnie, Mohamad; Perrone, R.
Adherence to growth hormone (GH) therapy in naïve to treatment GH-deficient children: data of the Italian Cohort from the Easypod Connect Observational Study (ECOS) In corso di stampa Centonze, C.; Guzzetti, C.; Orlando, G.; Loche, S.; Angeletti, C.; Antoniazzi, F.; Bernasconi, S.; Cardinale, G. M.; Caruso-Nicoletti, M.; Cavallo, L.; Cianfarani, S.; Citro, G.; De Luca, F.; Della Casa, S.; Di Pietro, M.; Garofalo, P.; Giordano, C.; Greggio, N. A.; Licenziati, M. R.; Maghnie, M.; Parpagnoli, M.; Persani, L.; Pesce, S.; Sacco, M.; Salerno, M.; Tafi, L.
Adrenocorticotrophin stimulation and HLA polymorphisms suggest a high frequency of heterozygosity for steroid 21-hydroxylase deficiency in patients with Turner's syndrome and their families. 1-gen-1994 Larizza, D; Cuccia, M; Martinetti, M; Maghnie, Mohamad; Dondi, E; Salvaneschi, L; Severi, F.