UniSa - IRIS Institutional Research Information System

MELIS, Daniela
 Distribuzione geografica
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Continente #
AS - Asia 7.476
NA - Nord America 2.774
EU - Europa 998
SA - Sud America 942
AF - Africa 82
OC - Oceania 6
Continente sconosciuto - Info sul continente non disponibili 1
Totale 12.279
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Nazione #
HK - Hong Kong 5.100
US - Stati Uniti d'America 2.682
SG - Singapore 1.076
BR - Brasile 710
VN - Vietnam 532
CN - Cina 328
RU - Federazione Russa 207
IT - Italia 194
FR - Francia 140
IE - Irlanda 112
AR - Argentina 91
IN - India 90
DE - Germania 87
KR - Corea 70
ID - Indonesia 50
UA - Ucraina 47
GB - Regno Unito 46
BD - Bangladesh 39
EC - Ecuador 38
MX - Messico 34
JP - Giappone 28
CO - Colombia 26
CA - Canada 25
FI - Finlandia 25
AT - Austria 24
CL - Cile 22
IQ - Iraq 22
TR - Turchia 22
PK - Pakistan 20
PL - Polonia 20
NL - Olanda 19
VE - Venezuela 19
PY - Paraguay 18
ZA - Sudafrica 18
PH - Filippine 13
ES - Italia 12
MA - Marocco 12
EG - Egitto 11
DZ - Algeria 10
KZ - Kazakistan 10
MY - Malesia 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
RO - Romania 6
AU - Australia 5
BE - Belgio 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
CH - Svizzera 3
GR - Grecia 3
JM - Giamaica 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
IR - Iran 2
JO - Giordania 2
LB - Libano 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
HN - Honduras 1
KH - Cambogia 1
KY - Cayman, isole 1
LU - Lussemburgo 1
ML - Mali 1
MQ - Martinica 1
Totale 12.269
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Città #
Hong Kong 5.084
Singapore 513
San Jose 420
Dallas 224
Princeton 218
Ashburn 209
Chandler 209
Ho Chi Minh City 169
Council Bluffs 146
Lauterbourg 124
The Dalles 116
Dublin 109
Hanoi 104
Ann Arbor 97
Beijing 91
Woodbridge 90
São Paulo 66
Wilmington 57
Jacksonville 55
Dong Ket 50
Santa Clara 44
Moscow 43
Los Angeles 41
New York 38
Naples 37
Andover 36
Nuremberg 29
Rio de Janeiro 28
Tokyo 27
Chennai 22
Munich 22
Haiphong 20
Da Nang 19
Frankfurt am Main 19
Pune 19
Warsaw 19
Fairfield 18
Seattle 18
Belo Horizonte 16
Biên Hòa 16
Brooklyn 16
Houston 16
Atlanta 14
Salerno 14
Amsterdam 13
Curitiba 13
Guayaquil 13
Orem 13
Boardman 12
Norwalk 12
Porto Alegre 12
Quito 12
Seoul 12
Thái Bình 12
Joinville 11
Phoenix 11
Sorocaba 11
Turku 11
Baghdad 10
Bogotá 10
Jakarta 10
Rome 10
Vimercate 10
Boston 9
Chicago 9
Dhaka 9
Johannesburg 9
London 9
Ribeirão Preto 9
Santo André 9
Asunción 8
Brasília 8
Hải Dương 8
Mexico City 8
Milan 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
Montreal 7
Nairobi 7
Santiago 7
Tashkent 7
Washington 7
Caracas 6
Cardiff 6
Fort Worth 6
Fortaleza 6
Lima 6
Marcianise 6
New Delhi 6
Poplar 6
Sarno 6
Tây Ninh 6
Totale 9.231
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Nome #
A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome 536
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 513
Etanercept as a successful therapy in autoinflammatory syndrome related to TRNT1 mutations: a case-based review 470
A multimethod approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes. 463
Medullary unidentified bright objects in Neurofibromatosis type 1: a case series 431
Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1 405
Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak: Data from the Campania Rare Disease Registry 353
Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations 326
CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype 307
(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome 295
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. 285
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 264
Multimodal evaluation of the cerebrovascular reserve in Neurofibromatosis type 1 patients with Moyamoya syndrome 234
Brain damage in glycogen storage disease type I. 194
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1 189
Hepatic Presentation of Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): Case Report and Systematic Review 172
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. 163
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
Frequent persistence of hepatic abnormalities in children with hereditary fructose intolerance (HFI) is not correlated to specific gene mutations. 115
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
RASopathies and hemostatic abnormalities: key role of platelet dysfunction 108
Noonan-like syndrome with loose anagen hair associated with growth hormone insensitivity and atypical neurological manifestations 107
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 103
Vitamin E improves clinical outcome of patients affected by glycogen storage disease type Ib 101
Baraitser-Winter cerebrofrontofacial syndrome: Delineation of the spectrum in 42 cases 94
Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques 92
FOXI3 pathogenic variants cause one form of craniofacial microsomia 85
Bone metabolism in patients with type 1 neurofibromatosis: key role of sun exposure and physical activity 85
Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: Genotype-phenotype correlation and literature review 83
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 81
DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies 80
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 78
Retrospective multicentric study on non-optic CNS tumors in children and adolescents with neurofibromatosis type 1 77
Liver Involvement in Congenital Disorders of Glycosylation: A Systematic Review 77
Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defects 76
Dietary lipids in glycogen storage disease type III: A systematic literature study, case studies, and future recommendations 76
A pilot clinical trial with losartan in Myhre syndrome 75
Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease 74
Arg 1809 substitution in neurofibromin: Further evidence of a genotype-phenotype correlation in neurofibromatosis type 1 74
Cerebrovascular stenosis in neurofibromatosis type 1 and utility of magnetic resonance angiography: our experience and literature review 72
Efficacy of ACE-inhibitor therapy on renal disease in glycogen storage disease type 1: a multicentre retrospective study 72
Imbalanced cortisol concentrations in glycogen storage disease type I: evidence for a possible link between endocrine regulation and metabolic derangement 69
Loeys-Dietz syndrome type 4, caused by chromothripsis, involving the TGFB2 gene 68
Reduced bone mineral density in glycogen storage disease type III: Evidence for a possible connection between metabolic imbalance and bone homeostasis 68
Risk of autoimmune diseases in patients with RASopathies: systematic study of humoral and cellular immunity 66
Myasthenia gravis in a patient affected by glycogen storage disease type Ib: A further manifestation of an increased risk for autoimmune disorders? 66
Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients 66
Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings 65
A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes 65
Thiamine responsive megaloblastic anemia: a novel SLC19A2 compound heterozygous mutation in two siblings 65
Alterations in metabolic patterns have a key role in diagnosis and progression of primrose syndrome 65
Granulocyte colony-stimulating factor in glycogen storage disease type 1b. Results of the European Study on Glycogen Storage Disease Type 1 64
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders. 64
Mild phenotype associated with an interstitial deletion of the long arm of chromosome 1 63
Plasma acylcarnitines and urine organic acids profiles provide evidence for possible mitochondrial dysfunction in glycogen storage disease type Ia 63
Clinical significance of family history and bicuspid aortic valve in children and young adult patients with Marfan syndrome 63
Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature 63
Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance 61
Adams Oliver syndrome: Description of a new phenotype with cerebellar abnormalities in a family. 61
Mutation update for the SATB2 gene 61
Mutations in ZBTB20 cause Primrose syndrome. 60
Guidelines for management of glycogen storage disease type I – European Study on Glycogen Storage Disease Type I (ESGSD I) 59
A specific serum lipid signature characterizes patients with glycogen storage disease type Ia 58
Genome-wide DNA methylation analysis of a cohort of 41 patients affected by oculo-auriculo-vertebral spectrum (OAVS) 58
Clinical report of a brain magnetic resonance imaging finding in Noonan syndrome 58
Mosaic 13q13.2-ter deletion restricted to tissues of ectodermal and mesodermal origins 58
NPT4, a new microsomal phosphate transporter: mutation analysis in glycogen storage disease type Ic 56
Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome 55
Mitochondrial reprogramming in peripheral blood mononuclear cells of patients with glycogen storage disease type Ia 54
Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type? 54
A case of Klinefelter syndrome, mosaicism (46,XY/47,XXY), associated with anorexia nervosa 53
A novel homozygous mutation in the SLCO2A1 gene causing pachydermoperiostosis: Efficacy of hydroxychloroquine treatment 53
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 52
The role of unidentified bright objects in the neurocognitive profile of neurofibromatosis type 1 children: a volumetric MRI analysis 51
The SGLT2-inhibitor dapagliflozin improves neutropenia and neutrophil dysfunction in a mouse model of the inherited metabolic disorder GSDIb 51
Fetal growth patterns in Beckwith–Wiedemann syndrome 51
Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum 50
Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene. 50
Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22 50
Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome 50
Clinical and genetic variability of glycogen storage disease type IIIa: Seven novel AGL gene mutations in the Mediterranean area 49
Medullary unidentified bright objects in Neurofibromatosis type 1: A case series 49
Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder 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
Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants 48
Type A niemann-pick disease. Description of three cases with delayed myelination 48
Identification of two novel splice-site mutations in CHD7 gene in two patients with classical and atypical CHARGE syndrome phenotype 48
Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on glycogen storage disease type I (ESGSDI) 48
Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients. 48
Enhancing cyst-like lesions of the white matter in tuberous sclerosis complex: a novel neuroradiological finding 48
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules 47
The 17β-hydroxysteroid dehydrogenase type 3 deficiency: a case report of an 18-year patient and review of the literature 47
Molecular characterisation of GSD III subjects and identification of six novel mutations in AGL 47
Combination of monosomy 5p15.3 and trisomy 9p23: Clinical and cytogenetic definition of both conditions 46
CREBBP mutations in individuals without Rubinstein–Taybi syndrome phenotype 46
Infantile systemic hyalinosis: an atypical milder form 45
Involvement of endocrine system in a patient affected by glycogen storage disease 1b: speculation on the role of autoimmunity 44
SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan 44
Primrose syndrome: Characterization of the phenotype in42 patients 44
Totale 11.044
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Categoria #
all - tutte 40.274
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 40.274
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202189 0 0 0 0 0 0 0 0 0 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
2025/20269.559 383 2.519 3.096 788 651 260 838 230 276 518 0 0
Totale 12.452