UniSa - IRIS Institutional Research Information System

MELIS, Daniela
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
AS - Asia 7.561
NA - Nord America 3.090
EU - Europa 1.042
SA - Sud America 943
AF - Africa 82
OC - Oceania 6
Continente sconosciuto - Info sul continente non disponibili 1
Totale 12.725
Salva come PNG Salva come JPEG
Nazione #
HK - Hong Kong 5.108
US - Stati Uniti d'America 2.973
SG - Singapore 1.084
BR - Brasile 711
VN - Vietnam 532
CN - Cina 351
IT - Italia 234
RU - Federazione Russa 207
FR - Francia 141
IE - Irlanda 112
AR - Argentina 91
IN - India 91
DE - Germania 87
BD - Bangladesh 82
KR - Corea 70
ID - Indonesia 50
UA - Ucraina 47
GB - Regno Unito 46
CA - Canada 43
EC - Ecuador 38
MX - Messico 36
JP - Giappone 28
CO - Colombia 26
FI - Finlandia 25
AT - Austria 24
CL - Cile 22
IQ - Iraq 22
TR - Turchia 22
NL - Olanda 20
PK - Pakistan 20
PL - Polonia 20
VE - Venezuela 19
PY - Paraguay 18
ZA - Sudafrica 18
PH - Filippine 14
ES - Italia 12
MA - Marocco 12
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
AZ - Azerbaigian 6
JM - Giamaica 6
RO - Romania 6
AU - Australia 5
BE - Belgio 5
CH - Svizzera 5
CR - Costa Rica 5
CZ - Repubblica Ceca 5
LT - Lituania 5
OM - Oman 5
PA - Panama 5
BG - Bulgaria 4
HU - Ungheria 4
BA - Bosnia-Erzegovina 3
GR - Grecia 3
KG - Kirghizistan 3
KW - Kuwait 3
RS - Serbia 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
BO - Bolivia 2
CI - Costa d'Avorio 2
DK - Danimarca 2
EE - Estonia 2
ET - Etiopia 2
GH - Ghana 2
HN - Honduras 2
IR - Iran 2
JO - Giordania 2
LB - Libano 2
PR - Porto Rico 2
SK - Slovacchia (Repubblica Slovacca) 2
SY - Repubblica araba siriana 2
TH - Thailandia 2
BY - Bielorussia 1
DM - Dominica 1
GA - Gabon 1
GL - Groenlandia 1
GT - Guatemala 1
GY - Guiana 1
KH - Cambogia 1
KY - Cayman, isole 1
LU - Lussemburgo 1
ML - Mali 1
Totale 12.715
Salva come PNG Salva come JPEG
Città #
Hong Kong 5.092
Singapore 519
San Jose 485
Dallas 235
Ashburn 223
Princeton 218
Chandler 210
Ho Chi Minh City 169
Council Bluffs 146
Lauterbourg 124
The Dalles 116
Dublin 109
Beijing 107
Hanoi 104
Ann Arbor 97
Woodbridge 90
São Paulo 66
Wilmington 57
Jacksonville 55
New York 55
Santa Clara 54
Dong Ket 50
Los Angeles 48
Memphis 44
Moscow 43
Naples 40
Andover 36
Nuremberg 29
Rio de Janeiro 29
Tokyo 27
Chennai 22
Munich 22
Haiphong 20
Da Nang 19
Fairfield 19
Frankfurt am Main 19
Pune 19
Warsaw 19
Houston 18
Seattle 18
Brooklyn 17
Belo Horizonte 16
Biên Hòa 16
Atlanta 15
Orem 15
Rome 15
Salerno 14
Amsterdam 13
Curitiba 13
Guayaquil 13
Milan 13
Boardman 12
Chicago 12
Norwalk 12
Phoenix 12
Porto Alegre 12
Quito 12
Seoul 12
Thái Bình 12
Joinville 11
Sorocaba 11
Turku 11
Baghdad 10
Bogotá 10
Buffalo 10
Jakarta 10
Mexico City 10
Vimercate 10
Boston 9
Dhaka 9
Johannesburg 9
London 9
Ribeirão Preto 9
Santo André 9
Toronto 9
Asunción 8
Brasília 8
Hải Dương 8
Montreal 8
Springfield 8
Stockholm 8
Thái Nguyên 8
Buenos Aires 7
Campinas 7
Can Tho 7
Columbus 7
Ha Long 7
Kuala Lumpur 7
Montevideo 7
Nairobi 7
Santiago 7
Tashkent 7
Washington 7
Caracas 6
Cardiff 6
Fort Worth 6
Fortaleza 6
Lima 6
Manchester 6
Marcianise 6
Totale 9.459
Salva come PNG Salva come JPEG
Nome #
A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome 537
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 515
Etanercept as a successful therapy in autoinflammatory syndrome related to TRNT1 mutations: a case-based review 473
A multimethod approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes. 467
Medullary unidentified bright objects in Neurofibromatosis type 1: a case series 432
Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1 406
Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak: Data from the Campania Rare Disease Registry 356
CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype 331
Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations 327
(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome 296
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. 290
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 266
Multimodal evaluation of the cerebrovascular reserve in Neurofibromatosis type 1 patients with Moyamoya syndrome 236
Brain damage in glycogen storage disease type I. 198
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1 195
Hepatic Presentation of Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): Case Report and Systematic Review 176
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. 164
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) 134
RASopathies and hemostatic abnormalities: key role of platelet dysfunction 121
Frequent persistence of hepatic abnormalities in children with hereditary fructose intolerance (HFI) is not correlated to specific gene mutations. 118
Long term results of 2b Interferon treatment with and without steroid priming in chronic viral hepatitis B in children 112
Interferon (IFN) treatment in pediatric chronic hepatitis B (CHB): a metanalysis 112
Noonan-like syndrome with loose anagen hair associated with growth hormone insensitivity and atypical neurological manifestations 107
Vitamin E improves clinical outcome of patients affected by glycogen storage disease type Ib 105
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 104
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules 101
Baraitser-Winter cerebrofrontofacial syndrome: Delineation of the spectrum in 42 cases 100
Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques 93
Bone metabolism in patients with type 1 neurofibromatosis: key role of sun exposure and physical activity 88
FOXI3 pathogenic variants cause one form of craniofacial microsomia 86
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 86
Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: Genotype-phenotype correlation and literature review 86
Cerebrovascular stenosis in neurofibromatosis type 1 and utility of magnetic resonance angiography: our experience and literature review 85
DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies 84
Retrospective multicentric study on non-optic CNS tumors in children and adolescents with neurofibromatosis type 1 81
Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defects 79
Dietary lipids in glycogen storage disease type III: A systematic literature study, case studies, and future recommendations 79
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 79
Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease 78
Liver Involvement in Congenital Disorders of Glycosylation: A Systematic Review 78
A pilot clinical trial with losartan in Myhre syndrome 75
Arg 1809 substitution in neurofibromin: Further evidence of a genotype-phenotype correlation in neurofibromatosis type 1 75
Efficacy of ACE-inhibitor therapy on renal disease in glycogen storage disease type 1: a multicentre retrospective study 74
Reduced bone mineral density in glycogen storage disease type III: Evidence for a possible connection between metabolic imbalance and bone homeostasis 72
Risk of autoimmune diseases in patients with RASopathies: systematic study of humoral and cellular immunity 71
Imbalanced cortisol concentrations in glycogen storage disease type I: evidence for a possible link between endocrine regulation and metabolic derangement 70
A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes 69
Loeys-Dietz syndrome type 4, caused by chromothripsis, involving the TGFB2 gene 69
Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings 68
Myasthenia gravis in a patient affected by glycogen storage disease type Ib: A further manifestation of an increased risk for autoimmune disorders? 68
Plasma acylcarnitines and urine organic acids profiles provide evidence for possible mitochondrial dysfunction in glycogen storage disease type Ia 68
Alterations in metabolic patterns have a key role in diagnosis and progression of primrose syndrome 68
Granulocyte colony-stimulating factor in glycogen storage disease type 1b. Results of the European Study on Glycogen Storage Disease Type 1 67
Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients 67
Thiamine responsive megaloblastic anemia: a novel SLC19A2 compound heterozygous mutation in two siblings 67
Clinical significance of family history and bicuspid aortic valve in children and young adult patients with Marfan syndrome 67
Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature 67
Mild phenotype associated with an interstitial deletion of the long arm of chromosome 1 66
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders. 65
Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance 63
Mutation update for the SATB2 gene 63
The role of unidentified bright objects in the neurocognitive profile of neurofibromatosis type 1 children: a volumetric MRI analysis 62
Adams Oliver syndrome: Description of a new phenotype with cerebellar abnormalities in a family. 62
Mosaic 13q13.2-ter deletion restricted to tissues of ectodermal and mesodermal origins 62
Mutations in ZBTB20 cause Primrose syndrome. 61
SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline 60
Genome-wide DNA methylation analysis of a cohort of 41 patients affected by oculo-auriculo-vertebral spectrum (OAVS) 60
Clinical report of a brain magnetic resonance imaging finding in Noonan syndrome 60
A specific serum lipid signature characterizes patients with glycogen storage disease type Ia 59
NPT4, a new microsomal phosphate transporter: mutation analysis in glycogen storage disease type Ic 59
Guidelines for management of glycogen storage disease type I – European Study on Glycogen Storage Disease Type I (ESGSD I) 59
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 57
Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome 57
Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type? 56
Mitochondrial reprogramming in peripheral blood mononuclear cells of patients with glycogen storage disease type Ia 55
A novel homozygous mutation in the SLCO2A1 gene causing pachydermoperiostosis: Efficacy of hydroxychloroquine treatment 55
A case of Klinefelter syndrome, mosaicism (46,XY/47,XXY), associated with anorexia nervosa 54
Fetal growth patterns in Beckwith–Wiedemann syndrome 53
The SGLT2-inhibitor dapagliflozin improves neutropenia and neutrophil dysfunction in a mouse model of the inherited metabolic disorder GSDIb 52
Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum 52
Clinical and genetic variability of glycogen storage disease type IIIa: Seven novel AGL gene mutations in the Mediterranean area 51
Medullary unidentified bright objects in Neurofibromatosis type 1: A case series 51
Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene. 51
Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder 51
Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome 51
CREBBP mutations in individuals without Rubinstein–Taybi syndrome phenotype 51
Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants 50
Type A niemann-pick disease. Description of three cases with delayed myelination 50
The 17β-hydroxysteroid dehydrogenase type 3 deficiency: a case report of an 18-year patient and review of the literature 50
Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22 50
Endocrine involvement in hepatic glycogen storage diseases: pathophysiology and implications for care 49
Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on glycogen storage disease type I (ESGSDI) 49
Molecular characterisation of GSD III subjects and identification of six novel mutations in AGL 49
In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS). 49
Enhancing cyst-like lesions of the white matter in tuberous sclerosis complex: a novel neuroradiological finding 49
Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type I 48
Involvement of endocrine system in a patient affected by glycogen storage disease 1b: speculation on the role of autoimmunity 48
Identification of two novel splice-site mutations in CHD7 gene in two patients with classical and atypical CHARGE syndrome phenotype 48
Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients. 48
Combination of monosomy 5p15.3 and trisomy 9p23: Clinical and cytogenetic definition of both conditions 46
Totale 11.384
Salva come PNG Salva come JPEG
Categoria #
all - tutte 42.433
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 42.433
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202157 0 0 0 0 0 0 0 0 0 0 0 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
2025/202610.005 383 2.519 3.096 788 651 260 838 230 276 608 238 118
Totale 12.898