Daniela Melis

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Limongelli Giuseppe; Pacileo Giuseppe; Melis Daniela; Calabro' Paolo; Digilio Maria Cristina; Sarkozy Anna; Maddaloni Valeria; Capozzi Giovanni; Sebastio Gianfranco; Andria Generoso; Calabro' Raffaele
Trisomy 18 and hypertrophy cardiomyopathy in an 18-year-old woman.
Melis Daniela; Pivonello Rosario; Parenti Giancarlo; Della Casa Roberto; Salerno Mariacarolina; Lombardi Gaetano; Sebastio Gianfranco; Colao Annamaria; Andria Generoso
Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type I.
Lucchiari S; Pagliarani S; Salani S; Filocamo M; Di Rocco M; Melis D; Rodolico C; Musumeci O; Toscano A; Bresolin N; Comi G P
Hepatic and neuromuscular forms of glycogenosis type III: nine mutations in AGL.

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2008: Limongelli Giuseppe; Pacileo Giuseppe; Melis Daniela; Calabro' Paolo; Digilio Maria Cristina; Sarkozy Anna; Maddaloni Valeria; Capozzi Giovanni; Sebastio Gianfranco; Andria Generoso; Calabro' Raffaele
Trisomy 18 and hypertrophy cardiomyopathy in an 18-year-old woman.
American journal of medical genetics. Part A 2008;146(3):327-9.
2007: Melis Daniela; Pivonello Rosario; Parenti Giancarlo; Della Casa Roberto; Salerno Mariacarolina; Lombardi Gaetano; Sebastio Gianfranco; Colao Annamaria; Andria Generoso
Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type I.
The Journal of pediatrics 2007;150(3):300-5, 305.e1.
2006: Lucchiari S; Pagliarani S; Salani S; Filocamo M; Di Rocco M; Melis D; Rodolico C; Musumeci O; Toscano A; Bresolin N; Comi G P
Hepatic and neuromuscular forms of glycogenosis type III: nine mutations in AGL.
Human mutation 2006;27(6):600-1.
2006: Melis Daniela; Pia Sperandeo Maria; Perone Lucia; Staiano Annamaria; Andria Generoso; Sebastio Gianfranco
Mosaic 13q13.2-ter deletion restricted to tissues of ectodermal and mesodermal origins.
Clinical dysmorphology 2006;15(1):13-8.
2005: Faggiano Antongiulio; Melis Daniela; Alfieri Raffaele; De Martino MariaCristina; Filippella Mariagiovanna; Milone Francesco; Lombardi Gaetano; Colao Annamaria; Pivonello Rosario
Sulfur amino acids in Cushing's disease: insight in homocysteine and taurine levels in patients with active and cured disease.
The Journal of clinical endocrinology and metabolism 2005;90(12):6616-22.
2005: Melis Daniela; Fulceri Rossella; Parenti Giancarlo; Marcolongo Paola; Gatti Rosanna; Parini Rossella; Riva Enrica; Della Casa Roberto; Zammarchi Enrico; Andria Generoso; Benedetti Angelo
Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature.
European journal of pediatrics 2005;164(8):501-8.
2005: Melis D; Parenti G; Gatti R; Casa R Della; 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
Efficacy of ACE-inhibitor therapy on renal disease in glycogen storage disease type 1: a multicentre retrospective study.
Clinical endocrinology 2005;63(1):19-25.
2005: Rossi Massimiliano; De Brasi Daniele; Hall Christine M; Battagliese Antonella; Melis Daniela; Sebastio Gianfranco; Andria Generoso
A new familial case of spondylo-epi-metaphyseal dysplasia with multiple dislocations Hall type (leptodactylic form).
Clinical dysmorphology 2005;14(1):13-8.
2004: Melis Daniela; Parenti Giancarlo; Della Casa Roberto; Sibilio Michelina; Romano Alfonso; Di Salle Francesco; Elefante Raffaele; Mansi Giuseppina; Santoro Lucio; Perretti Anna; Paludetto Roberto; Sequino Luigi; Andria Generoso
Brain damage in glycogen storage disease type I.
The Journal of pediatrics 2004;144(5):637-42.
2003: Melis D; Parenti G; Della Casa R; Sibilio M; Berni Canani R; Terrin G; Cucchiara S; Andria G
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.
Acta paediatrica (Oslo, Norway : 1992) 2003;92(12):1415-21.
2003: Lucchiari S; Donati M A; Melis D; Filocamo M; Parini R; Bresolin N; Comi G P
Mutational analysis of the AGL gene: five novel mutations in GSD III patients.
Human mutation 2003;22(4):337.
2003: Faggiano Antongiulio; Pivonello Rosario; Melis Daniela; Filippella Mariagiovanna; Di Somma Carolina; Petretta Mario; Lombardi Gaetano; Colao Annamaria
Nephrolithiasis in Cushing's disease: prevalence, etiopathogenesis, and modification after disease cure.
The Journal of clinical endocrinology and metabolism 2003;88(5):2076-80.
2002: Lucchiari S; Donati M A; Parini R; Melis D; Gatti R; Bresolin N; Scarlato G; Comi G P
Molecular characterisation of GSD III subjects and identification of six novel mutations in AGL.
Human mutation 2002;20(6):480.
2002: Lucchiari S; Fogh I; Prelle A; Parini R; Bresolin N; Melis D; Fiori L; Scarlato G; Comi G P
Clinical and genetic variability of glycogen storage disease type IIIa: seven novel AGL gene mutations in the Mediterranean area.
American journal of medical genetics 2002;109(3):183-90.
2002: Faggiano A; Pivonello R; Melis D; Alfieri R; Filippella M; Spagnuolo G; Salvatore F; Lombardi G; Colao A
Evaluation of circulating levels and renal clearance of natural amino acids in patients with Cushing's disease.
Journal of endocrinological investigation 2002;25(2):142-51.
1999: Galli L; Orrico A; Marcolongo P; Fulceri R; Burchell A; Melis D; Parini R; Gatti R; Lam C; Benedetti A; Sorrentino V
Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c.
FEBS letters 1999;459(2):255-8.
1998: Melis D; Perone L; Sperandeo M P; Sabbatino M S; Tuzzi M R; Romano A; Parenti G; Andria G
Mild phenotype associated with an interstitial deletion of the long arm of chromosome 1.
Journal of medical genetics 1998;35(12):1047-9.

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Daniela Melis

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