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A case of Klinefelter syndrome, mosaicism (46,XY/47,XXY), associated with anorexia nervosa.
Published in:
2011
By:
- Gritti A;
- Salerno F;
- Pisano S;
- Formicola F;
- Melis D;
- Franzese A;
- Gritti, A;
- Salerno, F;
- Pisano, S;
- Formicola, F;
- Melis, D;
- Franzese, A
Publication type:
journal article
Estimated glomerular filtration rate, albuminuria and mortality in type 2 diabetes: the Casale Monferrato study.
Published in:
Diabetologia, 2007, v. 50, n. 5, p. 941, doi. 10.1007/s00125-007-0616-1
By:
- Bruno, G.;
- Merletti, F.;
- Bargero, G.;
- Novelli, G.;
- Melis, D.;
- Soddu, A.;
- Perotto, M.;
- Pagano, G.;
- Cavallo-Perin, P.
Publication type:
Article
Vitamin E supplementation improves neutropenia and reduces the frequency of infections in patients with glycogen storage disease type 1b.
Published in:
2009
By:
- Melis, D.;
- Casa, R. Della;
- Parini, R.;
- Rigoldi, M.;
- Cacciapuoti, C.;
- Marcolongo, P.;
- Benedetti, A.;
- Gaudieri, V.;
- Andria, G.;
- Parenti, G.;
- Della Casa, R
Publication type:
journal article
Fetal growth patterns in Beckwith-Wiedemann syndrome.
Published in:
Clinical Genetics, 2016, v. 90, n. 1, p. 21, doi. 10.1111/cge.12759
By:
- Mussa, A.;
- Russo, S.;
- de Crescenzo, A.;
- Freschi, A.;
- Calzari, L.;
- Maitz, S.;
- Macchiaiolo, M.;
- Molinatto, C.;
- Baldassarre, G.;
- Mariani, M.;
- Tarani, L.;
- Bedeschi, M.F.;
- Milani, D.;
- Melis, D.;
- Bartuli, A.;
- Cubellis, M.V.;
- Selicorni, A.;
- Silengo, M.C.;
- Larizza, L.;
- Riccio, A.
Publication type:
Article
Identification of two novel splice-site mutations in CHD7 gene in two patients with classical and atypical CHARGE syndrome phenotype.
Published in:
Clinical Genetics, 2014, v. 85, n. 2, p. 201, doi. 10.1111/cge.12115
By:
- Cappuccio, G.;
- Ginocchio, V.M.;
- Maffè, A.;
- Ungari, S.;
- Andria, G.;
- Melis, D.
Publication type:
Article
Noonan-like syndrome with loose anagen hair associated with growth hormone insensitivity and atypical neurological manifestations.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 856, doi. 10.1002/ajmg.a.35234
By:
- Capalbo, D.;
- Melis, D.;
- De Martino, L.;
- Palamaro, L.;
- Riccomagno, S.;
- Bona, G.;
- Cordeddu, V.;
- Pignata, C.;
- Salerno, M.
Publication type:
Article
Aurora Kinase A proximity map reveals centriolar satellites as regulators of its ciliary function.
Published in:
EMBO Reports, 2021, v. 22, n. 8, p. 1, doi. 10.15252/embr.202051902
By:
- Arslanhan, Melis D;
- Rauniyar, Navin;
- Yates, John R;
- Firat‐Karalar, Elif N
Publication type:
Article
A case of Klinefelter syndrome, mosaicism (46,XY/47,XXY), associated with anorexia nervosa.
Published in:
Eating & Weight Disorders, 2011, v. 16, n. 1, p. e69, doi. 10.1007/BF03327525
By:
- Gritti, A.;
- Salerno, F.;
- Pisano, S.;
- Formicola, F.;
- Melis, D.;
- Franzese, A.
Publication type:
Article
Risk of autoimmune diseases in patients with RASopathies: systematic study of humoral and cellular immunity.
Published in:
2021
By:
- Siano, M. A.;
- Marchetti, V.;
- Pagano, S.;
- Di Candia, F.;
- Alessio, M.;
- De Brasi, D.;
- De Luca, A.;
- Pinna, V.;
- Sestito, S.;
- Concolino, D.;
- Tartaglia, M.;
- Strisciuglio, P.;
- D'Esposito, V.;
- Cabaro, S.;
- Perruolo, G.;
- Formisano, P.;
- Melis, D.
Publication type:
journal article
Myasthenia gravis in a patient affected by glycogen storage disease type Ib: A further manifestation of an increased risk for autoimmune disorders?
Published in:
Journal of Inherited Metabolic Disease, 2008, v. 31, p. 227, doi. 10.1007/s10545-008-0810-4
By:
- Melis, D.;
- Balivo, F.;
- Casa, R.;
- Romano, A.;
- Taurisano, R.;
- Capaldo, B.;
- Riccardi, G.;
- Monsurrò, M.;
- Parenti, G.;
- Andria, G.
Publication type:
Article
NPT4, a new microsomal phosphate transporter: Mutation analysis in glycogen storage disease type Ic.
Published in:
Journal of Inherited Metabolic Disease, 2004, v. 27, n. 6, p. 725, doi. 10.1023/B:BOLI.0000045755.89308.2f
By:
- Melis, D.;
- Havelaar, A.;
- Verbeek, E.;
- Smit, G.;
- Benedetti, A.;
- Mancini, G.;
- Verheijen, F.
Publication type:
Article
Impaired Bone Metabolism in Glycogen Storage Disease Type 1 Is Associated with Poor Metabolic Control in Type 1a and with Granulocyte Colony-Stimulating Factor Therapy in Type 1b.
Published in:
Hormone Research in Paediatrics, 2014, v. 81, n. 1, p. 55, doi. 10.1159/000351022
By:
- Melis, D.;
- Pivonello, R.;
- Cozzolino, M.;
- Della Casa, R.;
- Balivo, F.;
- Del Puente, a.;
- Dionisi-Vici, C.;
- Cotugno, G.;
- Zuppaldi, C.;
- Rigoldi, M.;
- Parini, R.;
- Colao, a.;
- andria, G.;
- Parenti, G.
Publication type:
Article
Type a Niemann-Pick Disease. Description of Three Cases with Delayed Myelination.
Published in:
Neuroradiology Journal, 2008, v. 21, n. 3, p. 309, doi. 10.1177/197140090802100303
By:
- d'Amico, A.;
- Sibilio, M.;
- Caranci, F.;
- Bartiromo, F.;
- Taurisano, R.;
- Balivo, F.;
- Melis, D.;
- Parenti, G.;
- Cirillo, S.;
- Elefante, R.;
- Brunetti, A.
Publication type:
Article
Endocrine system involvement in patients with RASopathies: A case series.
Published in:
Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.1030398
By:
- Siano, M. A.;
- 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, Ciro Gabriele;
- Mannarino, T.;
- Strisciuglio, P.;
- Tartaglia, M.;
- Melis, D.
Publication type:
Article
Hepatic and neuromuscular forms of glycogenosis type III: nine mutations in AGL.
Published in:
Human Mutation, 2006, v. 27, n. 6, p. 600, doi. 10.1002/humu.9426
By:
- Lucchiari, S.;
- Pagliarani, S.;
- Salani, S.;
- Filocamo, M.;
- Di Rocco, M.;
- Melis, D.;
- Rodolico, C.;
- Musumeci, O.;
- Toscano, A.;
- Bresolin, N.;
- Comi, G.P.
Publication type:
Article
Crohn's-like ileo-colitis in patients affected by glycogen storage disease Ib: two years' follow-up of patients with a wide spectrum of gastrointestinal signs.
Published in:
2003
By:
- Melis, D.;
- Parenti, G.;
- Della Casa, R.;
- Sibilio, M.;
- Canani, R. Berni;
- Terrin, G.;
- Cucchiara, S.;
- Andria, G.;
- Berni Canani, R
Publication type:
journal article
In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS).
Published in:
Neurogenetics, 2018, v. 19, n. 2, p. 77, doi. 10.1007/s10048-018-0540-1
By:
- Ranieri, C.;
- Di Tommaso, S.;
- Loconte, D. C.;
- Grossi, V.;
- Sanese, P.;
- Bagnulo, R.;
- Susca, F. C.;
- Forte, G.;
- Peserico, A.;
- De Luisi, A.;
- Bartuli, A.;
- Selicorni, A.;
- Melis, D.;
- Lerone, M.;
- Praticò, A. D.;
- Abbadessa, G.;
- Yu, Y.;
- Schwartz, B.;
- Ruggieri, Martino;
- Simone, Cristiano
Publication type:
Article
Mutational analysis of the AGL gene: Five novel mutations in GSD III patients <FN ID="fn1">Communicated by William S. Sly</FN><FN ID="fn2">Online Citation: Human Mutation, Mutation in Brief #648 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/648.pdf</FN>
Published in:
Human Mutation, 2003, v. 22, n. 4, p. 337, doi. 10.1002/humu.9177
By:
- S. Lucchiari;
- M.A. Donati;
- D. Melis;
- M. Filocamo;
- R. Parini;
- N. Bresolin;
- G.P. Comi
Publication type:
Article
Molecular characterisation of GSD III subjects and identification of six novel mutations in AGL.
Published in:
Human Mutation, 2002, v. 20, n. 6, p. 480, doi. 10.1002/humu.9093
By:
- Lucchiari, S.;
- Donati, M.A.;
- Parini, R.;
- Melis, D.;
- Gatti, R.;
- Bresolin, N.;
- Scarlato, G.;
- Comi, G.P.
Publication type:
Article
Efficacy of ACE-inhibitor therapy on renal disease in glycogen storage disease type 1: a multicentre retrospective study.
Published in:
Clinical Endocrinology, 2005, v. 63, n. 1, p. 19, doi. 10.1111/j.1365-2265.2005.02292.x
By:
- Melis, D.;
- Parenti, G.;
- Gatti, R.;
- Della Casa, R.;
- Parini, R.;
- Riva, E.;
- Burlina, A. B.;
- Vici, C. Dionisi;
- Di Rocco, M.;
- Furlan, F.;
- Torcoletti, M.;
- Papadia, F.;
- Donati, A.;
- Benigno, V.;
- Andria, G.
Publication type:
Article

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