UniSa - IRIS Institutional Research Information System

MELIS, Daniela
 Distribuzione geografica
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Continente #
NA - Nord America 1.341
AS - Asia 665
EU - Europa 656
SA - Sud America 132
AF - Africa 11
OC - Oceania 4
Totale 2.809
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Nazione #
US - Stati Uniti d'America 1.317
SG - Singapore 301
RU - Federazione Russa 185
IT - Italia 155
CN - Cina 129
BR - Brasile 119
IE - Irlanda 107
DE - Germania 59
HK - Hong Kong 59
VN - Vietnam 57
KR - Corea 44
UA - Ucraina 42
IN - India 32
FI - Finlandia 23
AT - Austria 16
GB - Regno Unito 14
NL - Olanda 11
CA - Canada 10
FR - Francia 7
MX - Messico 7
BD - Bangladesh 6
AR - Argentina 5
CZ - Repubblica Ceca 5
IL - Israele 5
KZ - Kazakistan 5
SE - Svezia 5
TR - Turchia 5
BE - Belgio 4
JP - Giappone 4
PL - Polonia 4
AU - Australia 3
DZ - Algeria 3
IQ - Iraq 3
SI - Slovenia 3
CH - Svizzera 2
CI - Costa d'Avorio 2
CO - Colombia 2
DO - Repubblica Dominicana 2
ES - Italia 2
GR - Grecia 2
IR - Iran 2
LT - Lituania 2
MY - Malesia 2
NP - Nepal 2
PA - Panama 2
PK - Pakistan 2
RO - Romania 2
SA - Arabia Saudita 2
TN - Tunisia 2
VE - Venezuela 2
ZA - Sudafrica 2
BG - Bulgaria 1
BO - Bolivia 1
DK - Danimarca 1
EC - Ecuador 1
EE - Estonia 1
EG - Egitto 1
GL - Groenlandia 1
HN - Honduras 1
HU - Ungheria 1
KE - Kenya 1
KG - Kirghizistan 1
LB - Libano 1
NZ - Nuova Zelanda 1
OM - Oman 1
PH - Filippine 1
PS - Palestinian Territory 1
PY - Paraguay 1
RS - Serbia 1
SK - Slovacchia (Repubblica Slovacca) 1
SV - El Salvador 1
UY - Uruguay 1
Totale 2.809
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Città #
Princeton 218
Chandler 209
Singapore 136
Dublin 106
Ann Arbor 97
Woodbridge 90
Wilmington 57
Jacksonville 55
Hong Kong 54
Dong Ket 50
Ashburn 45
Beijing 44
Moscow 40
Andover 36
Naples 36
Nuremberg 23
Munich 22
Pune 19
Fairfield 18
Dallas 17
Salerno 14
Houston 13
Seattle 13
Boardman 12
Norwalk 12
São Paulo 12
Turku 11
Los Angeles 10
New York 10
Vimercate 10
Chennai 9
The Dalles 9
Springfield 8
Columbus 7
Amsterdam 6
Fort Worth 6
Marcianise 6
Phoenix 6
Sarno 6
Washington 6
Brno 5
Brooklyn 5
Dearborn 5
Milan 5
San Diego 5
San Marzano sul Sarno 5
Santa Clara 5
Brussels 4
Fisciano 4
Helsinki 4
Ho Chi Minh City 4
London 4
Pellezzano 4
Prineville 4
Rome 4
Shanghai 4
Wuhan 4
Almaty 3
Baghdad 3
Belo Horizonte 3
Boston 3
Dhaka 3
Düsseldorf 3
Edinburgh 3
Guangzhou 3
Hebei 3
Jinan 3
Lappeenranta 3
Ljubljana 3
Mexico City 3
Montreal 3
Nanchang 3
Nanjing 3
Rio de Janeiro 3
Sandston 3
Shenyang 3
Stockholm 3
Sugar Land 3
Tokyo 3
Warsaw 3
Abidjan 2
Assago 2
Augusta 2
Bagnoli Irpino 2
Bogotá 2
Campo Grande 2
Curitiba 2
Genoa 2
Jiaxing 2
Jinhua 2
Joinville 2
Kuala Lumpur 2
Maiori 2
Manaus 2
Melbourne 2
Mestre 2
Miami 2
Oral 2
Panama City 2
Perth 2
Totale 1.742
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Nome #
Brain damage in glycogen storage disease type I. 149
Rossi A, Ruoppolo M, Formisano P, Villani G, Albano L, Gallo G, Crisci D, Moccia A, Parenti G, Strisciuglio P, Melis D. Insulin-resistance in glycogen storage disease type Ia: linking carbohydrates and mitochondria? J Inherit Metab Dis. 2018 Nov;41(6):985-995. doi: 10.1007/s10545-018-0149-4. IF 4.827. Citazioni 8(Google Scholar), 7 (Scopus), 4 (ISI web of Science) 102
Frequent persistence of hepatic abnormalities in children with hereditary fructose intolerance (HFI) is not correlated to specific gene mutations. 92
Interferon (IFN) treatment in pediatric chronic hepatitis B (CHB): a metanalysis 90
Long term results of 2b Interferon treatment with and without steroid priming in chronic viral hepatitis B in children 88
RASopathies and hemostatic abnormalities: key role of platelet dysfunction 57
Baraitser-Winter cerebrofrontofacial syndrome: Delineation of the spectrum in 42 cases 50
Dietary lipids in glycogen storage disease type III: A systematic literature study, case studies, and future recommendations 49
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1 47
Hepatic Presentation of Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): Case Report and Systematic Review 45
DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies 43
Arg 1809 substitution in neurofibromin: Further evidence of a genotype-phenotype correlation in neurofibromatosis type 1 43
Clinical significance of family history and bicuspid aortic valve in children and young adult patients with Marfan syndrome 42
Imbalanced cortisol concentrations in glycogen storage disease type I: evidence for a possible link between endocrine regulation and metabolic derangement 42
Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defects 40
Alterations in metabolic patterns have a key role in diagnosis and progression of primrose syndrome 40
Mild phenotype associated with an interstitial deletion of the long arm of chromosome 1 39
Liver Involvement in Congenital Disorders of Glycosylation: A Systematic Review 39
Risk of autoimmune diseases in patients with RASopathies: systematic study of humoral and cellular immunity 37
Bone metabolism in patients with type 1 neurofibromatosis: key role of sun exposure and physical activity 37
Genome-wide DNA methylation analysis of a cohort of 41 patients affected by oculo-auriculo-vertebral spectrum (OAVS) 35
Clinical report of a brain magnetic resonance imaging finding in Noonan syndrome 35
Etanercept as a successful therapy in autoinflammatory syndrome related to TRNT1 mutations: a case-based review 34
A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome 34
A pilot clinical trial with losartan in Myhre syndrome 33
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants 33
Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22 33
Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature 33
Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) antigen detection in the Emergency Department: data from a pediatric cohort during the fourth COVID-19 wave in Italy 33
Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings 32
Cutting edge: Increased autoimmunity risk in glycogen storage disease type 1b is associated with a reduced engagement of glycolysis in T Cells and an impaired regulatory T Cell function 31
Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak: Data from the Campania Rare Disease Registry 29
Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type? 29
Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease 28
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders. 28
Multimodal evaluation of the cerebrovascular reserve in Neurofibromatosis type 1 patients with Moyamoya syndrome 28
Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder 26
The SGLT2-inhibitor dapagliflozin improves neutropenia and neutrophil dysfunction in a mouse model of the inherited metabolic disorder GSDIb 25
Nephrological findings and genotype-phenotype correlation in Beckwith-Wiedemann syndrome 25
SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan 25
Primrose syndrome: Characterization of the phenotype in42 patients 25
Retrospective multicentric study on non-optic CNS tumors in children and adolescents with neurofibromatosis type 1 25
Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome 25
Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance 24
Fertility and pregnancy in women affected by glycogen storage disease type I, results of a multicenter Italian study 24
Mutation update for the SATB2 gene 23
A novel homozygous mutation in the SLCO2A1 gene causing pachydermoperiostosis: Efficacy of hydroxychloroquine treatment 23
A multimethod approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes. 23
Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants 22
Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques 22
CREBBP mutations in individuals without Rubinstein–Taybi syndrome phenotype 22
Exosomal MicroRNAs as Potential Biomarkers of Hepatic Injury and Kidney Disease in Glycogen Storage Disease Type Ia Patients 21
Guidelines for management of glycogen storage disease type I – European Study on Glycogen Storage Disease Type I (ESGSD I) 21
Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1 21
Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients 20
Thiamine responsive megaloblastic anemia: a novel SLC19A2 compound heterozygous mutation in two siblings 20
Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes 20
In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS). 20
Mosaic 13q13.2-ter deletion restricted to tissues of ectodermal and mesodermal origins 19
Noonan-like syndrome with loose anagen hair associated with growth hormone insensitivity and atypical neurological manifestations 19
FOXI3 pathogenic variants cause one form of craniofacial microsomia 18
Olfactory bulb enlargement in neurofibromatosis type 1: report of a novel finding 18
NPT4, a new microsomal phosphate transporter: mutation analysis in glycogen storage disease type Ic 18
Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome 18
Myasthenia gravis in a patient affected by glycogen storage disease type Ib: A further manifestation of an increased risk for autoimmune disorders? 18
Medullary unidentified bright objects in Neurofibromatosis type 1: a case series 18
Fetal growth patterns in Beckwith–Wiedemann syndrome 18
A specific serum lipid signature characterizes patients with glycogen storage disease type Ia 17
Loeys-Dietz syndrome type 4, caused by chromothripsis, involving the TGFB2 gene 17
Molecular characterisation of GSD III subjects and identification of six novel mutations in AGL 17
Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations 17
Constitutional chromothripsis involving the critical region of 9q21.13 microdeletion syndrome 17
Combination of monosomy 5p15.3 and trisomy 9p23: Clinical and cytogenetic definition of both conditions 16
Mitochondrial reprogramming in peripheral blood mononuclear cells of patients with glycogen storage disease type Ia 16
Glycogen storage disease type Ia (GSDIa) but not Glycogen storage disease type Ib (GSDIb) is associated to an increased risk of metabolic syndrome: Possible role of microsomal glucose 6-phosphate accumulation 16
Clinical and genetic variability of glycogen storage disease type IIIa: Seven novel AGL gene mutations in the Mediterranean area 15
Mutations in ZBTB20 cause Primrose syndrome. 15
Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients. 15
New insights in the interpretation of array-CGH: Autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants 15
Sensorineural Hearing Loss in a Patient Affected by Congenital Cytomegalovirus Infection: Is It Useful to Identify Comorbid Pathologies? 15
Reduced bone mineral density in glycogen storage disease type III: Evidence for a possible connection between metabolic imbalance and bone homeostasis 15
Enhancing cyst-like lesions of the white matter in tuberous sclerosis complex: a novel neuroradiological finding 15
Severe impact of late diagnosis of congenital adrenal hyperplasia on gender identity, sexual orientation and function: case report and review of the literature 14
Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type I 14
Infantile systemic hyalinosis: an atypical milder form 14
Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1 14
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. 13
Vitamin E improves clinical outcome of patients affected by glycogen storage disease type Ib 13
Progression of renal damage in glycogen storage disease type I is associated to hyperlipidemia: a multicentre prospective Italian study. 13
Endocrine involvement in hepatic glycogen storage diseases: pathophysiology and implications for care 11
Medullary unidentified bright objects in Neurofibromatosis type 1: a case series 11
Type A niemann-pick disease. Description of three cases with delayed myelination 11
A case of Klinefelter syndrome, mosaicism (46,XY/47,XXY), associated with anorexia nervosa 11
SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline 10
WAGR syndrome: importance of diagnosis and follow-up 10
Plasma acylcarnitines and urine organic acids profiles provide evidence for possible mitochondrial dysfunction in glycogen storage disease type Ia 10
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules 9
(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome 9
Identification of two novel splice-site mutations in CHD7 gene in two patients with classical and atypical CHARGE syndrome phenotype 9
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 8
Totale 2.787
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Categoria #
all - tutte 20.163
article - articoli 0
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 20.163
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021165 3 6 5 0 6 1 5 0 50 7 25 57
2021/2022376 0 1 0 0 4 0 3 77 51 32 45 163
2022/2023602 60 20 43 49 60 137 7 64 105 8 37 12
2023/2024367 14 46 19 17 17 42 12 18 27 16 29 110
2024/20251.051 7 14 15 22 44 148 260 60 132 90 136 123
2025/202689 89 0 0 0 0 0 0 0 0 0 0 0
Totale 2.982