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324 results

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Page 1
Mowat-Wilson syndrome: growth charts.
Ivanovski I, Djuric O, Broccoli S, Caraffi SG, Accorsi P, Adam MP, Avela K, Badura-Stronka M, Bayat A, Clayton-Smith J, Cocco I, Cordelli DM, Cuturilo G, Di Pisa V, Dupont Garcia J, Gastaldi R, Giordano L, Guala A, Hoei-Hansen C, Inaba M, Iodice A, Nielsen JEK, Kuburovic V, Lazalde-Medina B, Malbora B, Mizuno S, Moldovan O, Møller RS, Muschke P, Otelli V, Pantaleoni C, Piscopo C, Poch-Olive ML, Prpic I, Marín Reina P, Raviglione F, Ricci E, Scarano E, Simonte G, Smigiel R, Tanteles G, Tarani L, Trimouille A, Valera ET, Schrier Vergano S, Writzl K, Callewaert B, Savasta S, Street ME, Iughetti L, Bernasconi S, Giorgi Rossi P, Garavelli L. Ivanovski I, et al. Among authors: scarano e. Orphanet J Rare Dis. 2020 Jun 15;15(1):151. doi: 10.1186/s13023-020-01418-4. Orphanet J Rare Dis. 2020. PMID: 32539836 Free PMC article.
The Italian registry for patients with Prader-Willi syndrome.
Salvatore M, Torreri P, Grugni G, Rocchetti A, Maghnie M, Patti G, Crinò A, Elia M, Greco D, Romano C, Franzese A, Mozzillo E, Colao A, Pugliese G, Pagotto U, Lo Preiato V, Scarano E, Schiavariello C, Tornese G, Fintini D, Bocchini S, Osimani S, De Sanctis L, Sacco M, Rutigliano I, Delvecchio M, Faienza MF, Wasniewska M, Corica D, Stagi S, Guazzarotti L, Maffei P, Dassie F, Taruscio D. Salvatore M, et al. Among authors: scarano e. Orphanet J Rare Dis. 2023 Feb 15;18(1):28. doi: 10.1186/s13023-023-02633-5. Orphanet J Rare Dis. 2023. PMID: 36793093 Free PMC article.
Real-life long-term efficacy and safety of recombinant human growth hormone therapy in children with short stature homeobox-containing deficiency.
Bruzzi P, Vannelli S, Scarano E, Di Iorgi N, Parpagnoli M, Salerno M, Pitea M, Elisabeth Street M, Secco A, Andrea Trettene A, Wasniewska M, Corciulo N, Tornese G, Felicia Faienza M, Delvecchio M, Filomena Madeo S, Iughetti L. Bruzzi P, et al. Among authors: scarano e. Endocr Connect. 2023 Jun 8;12(7):e220402. doi: 10.1530/EC-22-0402. Print 2023 Jul 1. Endocr Connect. 2023. PMID: 37014306 Free PMC article.
Hearing loss in Turner syndrome: results of a multicentric study.
Bergamaschi R, Bergonzoni C, Mazzanti L, Scarano E, Mencarelli F, Messina F, Rosano M, Iughetti L, Cicognani A. Bergamaschi R, et al. Among authors: scarano e. J Endocrinol Invest. 2008 Sep;31(9):779-83. doi: 10.1007/BF03349257. J Endocrinol Invest. 2008. PMID: 18997489
Developmental syndromes: growth hormone deficiency and treatment.
Mazzanti L, Tamburrino F, Bergamaschi R, Scarano E, Montanari F, Torella M, Ballarini E, Cicognani A. Mazzanti L, et al. Among authors: scarano e. Endocr Dev. 2009;14:114-34. doi: 10.1159/000207481. Epub 2009 Feb 27. Endocr Dev. 2009. PMID: 19293579 Review.
A novel mutation in SPART gene causes a severe neurodevelopmental delay due to mitochondrial dysfunction with complex I impairments and altered pyruvate metabolism.
Diquigiovanni C, Bergamini C, Diaz R, Liparulo I, Bianco F, Masin L, Baldassarro VA, Rizzardi N, Tranchina A, Buscherini F, Wischmeijer A, Pippucci T, Scarano E, Cordelli DM, Fato R, Seri M, Paracchini S, Bonora E. Diquigiovanni C, et al. Among authors: scarano e. FASEB J. 2019 Oct;33(10):11284-11302. doi: 10.1096/fj.201802722R. Epub 2019 Aug 7. FASEB J. 2019. PMID: 31314595
., Tranchina, A., Buscherini, F., Wischmeijer, A., Pippucci, T., Scarano, E., Cordelli, D. M., Fato, R., Seri, M., Paracchini, S., Bonora, E. ...
., Tranchina, A., Buscherini, F., Wischmeijer, A., Pippucci, T., Scarano, E., Cordelli, D. M., Fato, R., Seri, M., Paracchini, …
Anthropometric characteristics of newborns with Prader-Willi syndrome.
Salvatoni A, Moretti A, Grugni G, Agosti M, Azzolini S, Bonaita V, Cianci P, Corica D, Crinò A, Delvecchio M, Ferraris S, Greggio NA, Iughetti L, Licenziati MR, Madeo SF, Nosetti L, Pajno R, Rutigliano I, Sacco M, Salvatore S, Scarano E, Trifirò G, Wasniewska M. Salvatoni A, et al. Among authors: scarano e. Am J Med Genet A. 2019 Oct;179(10):2067-2074. doi: 10.1002/ajmg.a.61304. Epub 2019 Jul 30. Am J Med Genet A. 2019. PMID: 31361394
Growth in Children With Noonan Syndrome and Effects of Growth Hormone Treatment on Adult Height.
Libraro A, D'Ascanio V, Cappa M, Chiarito M, Digilio MC, Einaudi S, Grandone A, Maghnie M, Mazzanti L, Mussa A, Patti G, Scarano E, Spinuzza A, Vannelli S, Wasniewska MG, Ferrero GB, Faienza MF. Libraro A, et al. Among authors: scarano e. Front Endocrinol (Lausanne). 2021 Dec 22;12:761171. doi: 10.3389/fendo.2021.761171. eCollection 2021. Front Endocrinol (Lausanne). 2021. PMID: 35002956 Free PMC article.
Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome.
Buijsse N, Jansen FE, Ockeloen CW, van Kempen MJA, Zeidler S, Willemsen MH, Scarano E, Monticone S, Zonneveld-Huijssoon E, Low KJ, Bayat A, Sisodiya SM, Samanta D, Lesca G, de Jong D, Giltay JC, Verbeek NE, Kleefstra T, Brilstra EH, Vlaskamp DRM. Buijsse N, et al. Among authors: scarano e. Epilepsia Open. 2023 Dec;8(4):1300-1313. doi: 10.1002/epi4.12799. Epub 2023 Aug 18. Epilepsia Open. 2023. PMID: 37501353 Free PMC article.
324 results