UniSa - IRIS Institutional Research Information System

MELIS, Daniela
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
AS - Asia 7.746
NA - Nord America 4.333
EU - Europa 1.824
SA - Sud America 950
Continente sconosciuto - Info sul continente non disponibili 177
AF - Africa 85
OC - Oceania 7
Totale 15.122
Salva come PNG Salva come JPEG
Nazione #
HK - Hong Kong 5.146
US - Stati Uniti d'America 4.160
SG - Singapore 1.123
IT - Italia 1.001
BR - Brasile 713
VN - Vietnam 533
CN - Cina 395
RU - Federazione Russa 207
FR - Francia 145
BD - Bangladesh 141
IE - Irlanda 112
IN - India 93
AR - Argentina 91
DE - Germania 89
CA - Canada 71
KR - Corea 70
GB - Regno Unito 50
ID - Indonesia 50
UA - Ucraina 47
EC - Ecuador 40
MX - Messico 38
CO - Colombia 28
JP - Giappone 28
FI - Finlandia 25
AT - Austria 24
TR - Turchia 24
CL - Cile 22
IQ - Iraq 22
NL - Olanda 21
PK - Pakistan 20
PL - Polonia 20
VE - Venezuela 19
PY - Paraguay 18
ZA - Sudafrica 18
JM - Giamaica 15
ES - Italia 14
PH - Filippine 14
MA - Marocco 12
CR - Costa Rica 11
EG - Egitto 11
MY - Malesia 11
DZ - Algeria 10
KZ - Kazakistan 10
SE - Svezia 10
DO - Repubblica Dominicana 9
SA - Arabia Saudita 9
IL - Israele 8
KE - Kenya 8
NP - Nepal 8
TN - Tunisia 8
PE - Perù 7
UY - Uruguay 7
UZ - Uzbekistan 7
AU - Australia 6
AZ - Azerbaigian 6
RO - Romania 6
BE - Belgio 5
CH - Svizzera 5
CZ - Repubblica Ceca 5
LT - Lituania 5
OM - Oman 5
PA - Panama 5
PR - Porto Rico 5
BG - Bulgaria 4
HN - Honduras 4
HU - Ungheria 4
BA - Bosnia-Erzegovina 3
BO - Bolivia 3
EE - Estonia 3
GR - Grecia 3
GT - Guatemala 3
KG - Kirghizistan 3
KW - Kuwait 3
RS - Serbia 3
SC - Seychelles 3
SI - Slovenia 3
SN - Senegal 3
SV - El Salvador 3
AE - Emirati Arabi Uniti 2
AL - Albania 2
AO - Angola 2
BF - Burkina Faso 2
CI - Costa d'Avorio 2
DK - Danimarca 2
ET - Etiopia 2
GH - Ghana 2
IR - Iran 2
JO - Giordania 2
LB - Libano 2
PT - Portogallo 2
SK - Slovacchia (Repubblica Slovacca) 2
SY - Repubblica araba siriana 2
TH - Thailandia 2
TT - Trinidad e Tobago 2
BB - Barbados 1
BY - Bielorussia 1
DM - Dominica 1
GA - Gabon 1
GL - Groenlandia 1
GY - Guiana 1
Totale 14.932
Salva come PNG Salva come JPEG
Città #
Hong Kong 5.129
San Jose 790
Singapore 550
Milan 437
Ashburn 325
Council Bluffs 287
Dallas 245
Princeton 218
Chandler 210
Ho Chi Minh City 170
Beijing 148
Rome 134
Lauterbourg 124
The Dalles 116
Dublin 109
Hanoi 104
Santa Clara 104
Ann Arbor 97
Woodbridge 91
São Paulo 68
New York 62
Jacksonville 60
Los Angeles 59
Wilmington 59
Figino 57
Naples 55
Dong Ket 50
Phoenix 47
Memphis 45
Moscow 44
Andover 36
Turin 34
Nuremberg 29
Rio de Janeiro 29
Houston 27
Tokyo 27
Brooklyn 26
Chennai 22
Munich 22
Atlanta 21
Haiphong 20
Da Nang 19
Fairfield 19
Frankfurt am Main 19
Pune 19
Seattle 19
Warsaw 19
Chicago 18
Belo Horizonte 16
Biên Hòa 16
Buffalo 16
Toronto 16
Orem 15
Salerno 15
Guayaquil 14
Amsterdam 13
Curitiba 13
Quito 13
Boardman 12
Bogotá 12
Mexico City 12
Norwalk 12
Philadelphia 12
Porto Alegre 12
Seoul 12
Thái Bình 12
Washington 12
Boston 11
Joinville 11
Sorocaba 11
Turku 11
Baghdad 10
Jakarta 10
London 10
Montreal 10
Vimercate 10
Columbus 9
Dhaka 9
Johannesburg 9
Kingston 9
Ribeirão Preto 9
Santo André 9
Asunción 8
Brasília 8
Denver 8
Hải Dương 8
San Diego 8
Springfield 8
Stockholm 8
Thái Nguyên 8
Baltimore 7
Buenos Aires 7
Campinas 7
Can Tho 7
Detroit 7
Fort Worth 7
Ha Long 7
Kuala Lumpur 7
Las Vegas 7
Montevideo 7
Totale 10.956
Salva come PNG Salva come JPEG
Nome #
A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome 547
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 530
Etanercept as a successful therapy in autoinflammatory syndrome related to TRNT1 mutations: a case-based review 482
A multimethod approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes. 479
Medullary unidentified bright objects in Neurofibromatosis type 1: a case series 439
Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1 424
Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak: Data from the Campania Rare Disease Registry 368
Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations 345
CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype 343
(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome 316
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. 301
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 281
Multimodal evaluation of the cerebrovascular reserve in Neurofibromatosis type 1 patients with Moyamoya syndrome 247
Brain damage in glycogen storage disease type I. 216
RASopathies and hemostatic abnormalities: key role of platelet dysfunction 210
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1 209
Hepatic Presentation of Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): Case Report and Systematic Review 192
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules 182
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. 177
Genetic testing of metabolic disorders 169
FOXI3 pathogenic variants cause one form of craniofacial microsomia 141
Frequent persistence of hepatic abnormalities in children with hereditary fructose intolerance (HFI) is not correlated to specific gene mutations. 139
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) 139
Long term results of 2b Interferon treatment with and without steroid priming in chronic viral hepatitis B in children 124
Interferon (IFN) treatment in pediatric chronic hepatitis B (CHB): a metanalysis 123
Noonan-like syndrome with loose anagen hair associated with growth hormone insensitivity and atypical neurological manifestations 123
Vitamin E improves clinical outcome of patients affected by glycogen storage disease type Ib 118
Baraitser-Winter cerebrofrontofacial syndrome: Delineation of the spectrum in 42 cases 117
Bone metabolism in patients with type 1 neurofibromatosis: key role of sun exposure and physical activity 114
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 110
Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques 105
Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: Genotype-phenotype correlation and literature review 104
FOXI3 pathogenic variants cause one form of craniofacial microsomia 99
Cerebrovascular stenosis in neurofibromatosis type 1 and utility of magnetic resonance angiography: our experience and literature review 99
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 98
Retrospective multicentric study on non-optic CNS tumors in children and adolescents with neurofibromatosis type 1 97
Plasma acylcarnitines and urine organic acids profiles provide evidence for possible mitochondrial dysfunction in glycogen storage disease type Ia 95
DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies 91
Genome-wide DNA methylation analysis of a cohort of 41 patients affected by oculo-auriculo-vertebral spectrum (OAVS) 91
Reduced bone mineral density in glycogen storage disease type III: Evidence for a possible connection between metabolic imbalance and bone homeostasis 90
Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defects 89
A pilot clinical trial with losartan in Myhre syndrome 88
Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease 88
Dietary lipids in glycogen storage disease type III: A systematic literature study, case studies, and future recommendations 87
Mutation update for the SATB2 gene 86
Arg 1809 substitution in neurofibromin: Further evidence of a genotype-phenotype correlation in neurofibromatosis type 1 86
Liver Involvement in Congenital Disorders of Glycosylation: A Systematic Review 86
Loeys-Dietz syndrome type 4, caused by chromothripsis, involving the TGFB2 gene 84
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 84
Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature 84
The role of unidentified bright objects in the neurocognitive profile of neurofibromatosis type 1 children: a volumetric MRI analysis 83
Efficacy of ACE-inhibitor therapy on renal disease in glycogen storage disease type 1: a multicentre retrospective study 83
Alterations in metabolic patterns have a key role in diagnosis and progression of primrose syndrome 83
SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline 82
Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings 82
Myasthenia gravis in a patient affected by glycogen storage disease type Ib: A further manifestation of an increased risk for autoimmune disorders? 82
Clinical significance of family history and bicuspid aortic valve in children and young adult patients with Marfan syndrome 82
Risk of autoimmune diseases in patients with RASopathies: systematic study of humoral and cellular immunity 79
Granulocyte colony-stimulating factor in glycogen storage disease type 1b. Results of the European Study on Glycogen Storage Disease Type 1 79
Mild phenotype associated with an interstitial deletion of the long arm of chromosome 1 78
A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes 78
Imbalanced cortisol concentrations in glycogen storage disease type I: evidence for a possible link between endocrine regulation and metabolic derangement 77
Adams Oliver syndrome: Description of a new phenotype with cerebellar abnormalities in a family. 75
Mosaic 13q13.2-ter deletion restricted to tissues of ectodermal and mesodermal origins 75
Mutations in ZBTB20 cause Primrose syndrome. 75
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders. 75
Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance 74
Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients 74
Thiamine responsive megaloblastic anemia: a novel SLC19A2 compound heterozygous mutation in two siblings 74
Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type? 73
Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder 73
A case of Klinefelter syndrome, mosaicism (46,XY/47,XXY), associated with anorexia nervosa 72
Guidelines for management of glycogen storage disease type I – European Study on Glycogen Storage Disease Type I (ESGSD I) 71
A novel homozygous mutation in the SLCO2A1 gene causing pachydermoperiostosis: Efficacy of hydroxychloroquine treatment 71
Involvement of endocrine system in a patient affected by glycogen storage disease 1b: speculation on the role of autoimmunity 70
Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on glycogen storage disease type I (ESGSDI) 70
In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS). 70
A specific serum lipid signature characterizes patients with glycogen storage disease type Ia 69
Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome 68
Fetal growth patterns in Beckwith–Wiedemann syndrome 68
Clinical report of a brain magnetic resonance imaging finding in Noonan syndrome 67
Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome 67
Mitochondrial reprogramming in peripheral blood mononuclear cells of patients with glycogen storage disease type Ia 66
NPT4, a new microsomal phosphate transporter: mutation analysis in glycogen storage disease type Ic 66
Medullary unidentified bright objects in Neurofibromatosis type 1: A case series 66
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 66
The SGLT2-inhibitor dapagliflozin improves neutropenia and neutrophil dysfunction in a mouse model of the inherited metabolic disorder GSDIb 65
Clinical and genetic variability of glycogen storage disease type IIIa: Seven novel AGL gene mutations in the Mediterranean area 65
Mitochondrial reprogramming in peripheral blood mononuclear cells of patients with glycogen storage disease type Ia 65
Type A niemann-pick disease. Description of three cases with delayed myelination 65
Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene. 65
CREBBP mutations in individuals without Rubinstein–Taybi syndrome phenotype 64
Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum 63
Molecular characterisation of GSD III subjects and identification of six novel mutations in AGL 63
Sensorineural Hearing Loss in a Patient Affected by Congenital Cytomegalovirus Infection: Is It Useful to Identify Comorbid Pathologies? 62
Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type I 62
Constitutional chromothripsis involving the critical region of 9q21.13 microdeletion syndrome. 61
SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan 61
Combination of monosomy 5p15.3 and trisomy 9p23: Clinical and cytogenetic definition of both conditions 59
Endocrine involvement in hepatic glycogen storage diseases: pathophysiology and implications for care 59
Totale 13.078
Salva come PNG Salva come JPEG
Categoria #
all - tutte 49.234
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 49.234
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022375 0 0 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
2025/202610.563 383 2.519 3.096 788 651 260 838 230 276 608 238 676
2026/20271.666 383 298 682 303 0 0 0 0 0 0 0 0
Totale 15.122