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Page 1
Endocrine system involvement in patients with RASopathies: A case series.
Siano MA, Pivonello R, Salerno M, Falco M, Mauro C, De Brasi D, Klain A, Sestito S, De Luca A, Pinna V, Simeoli C, Concolino D, Mainolfi CG, Mannarino T, Strisciuglio P, Tartaglia M, Melis D. Siano MA, et al. Among authors: melis d. Front Endocrinol (Lausanne). 2022 Nov 18;13:1030398. doi: 10.3389/fendo.2022.1030398. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 36483002 Free PMC article.
Type a niemann-pick disease. Description of three cases with delayed myelination.
D'Amico A, Sibilio M, Caranci F, Bartiromo F, Taurisano R, Balivo F, Melis D, Parenti G, Cirillo S, Elefante R, Brunetti A. D'Amico A, et al. Among authors: melis d. Neuroradiol J. 2008 Jun 3;21(3):309-15. doi: 10.1177/197140090802100303. Epub 2008 Jun 3. Neuroradiol J. 2008. PMID: 24256898
Trisomy 18 and hypertrophy cardiomyopathy in an 18-year-old woman.
Limongelli G, Pacileo G, Melis D, Calabro' P, Digilio MC, Sarkozy A, Maddaloni V, Capozzi G, Sebastio G, Andria G, Calabro' R. Limongelli G, et al. Among authors: melis d. Am J Med Genet A. 2008 Feb 1;146A(3):327-9. doi: 10.1002/ajmg.a.32149. Am J Med Genet A. 2008. PMID: 18203191 No abstract available.
Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations.
Pangrazio A, Pusch M, Caldana E, Frattini A, Lanino E, Tamhankar PM, Phadke S, Lopez AG, Orchard P, Mihci E, Abinun M, Wright M, Vettenranta K, Bariae I, Melis D, Tezcan I, Baumann C, Locatelli F, Zecca M, Horwitz E, Mansour LS, Van Roij M, Vezzoni P, Villa A, Sobacchi C. Pangrazio A, et al. Among authors: melis d. Hum Mutat. 2010 Jan;31(1):E1071-80. doi: 10.1002/humu.21167. Hum Mutat. 2010. PMID: 19953639
An emerging phenotype of proximal 11q deletions.
Melis D, Genesio R, Cozzolino M, Del Giudice E, Mormile A, Imperati F, Ronga V, Della Casa R, Nitsch L, Andria G. Melis D, et al. Eur J Med Genet. 2010 Sep-Oct;53(5):340-3. doi: 10.1016/j.ejmg.2010.07.010. Epub 2010 Aug 3. Eur J Med Genet. 2010. PMID: 20688202
164 results