UniSa - IRIS Institutional Research Information System

MELIS, Daniela
 Distribuzione geografica
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Continente #
AS - Asia 6.724
NA - Nord America 1.902
SA - Sud America 829
EU - Europa 780
AF - Africa 52
OC - Oceania 6
Continente sconosciuto - Info sul continente non disponibili 1
Totale 10.294
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Nazione #
HK - Hong Kong 5.027
US - Stati Uniti d'America 1.832
SG - Singapore 799
BR - Brasile 660
VN - Vietnam 392
CN - Cina 249
RU - Federazione Russa 202
IT - Italia 171
IE - Irlanda 109
AR - Argentina 67
DE - Germania 66
KR - Corea 56
IN - India 50
UA - Ucraina 47
ID - Indonesia 41
EC - Ecuador 34
GB - Regno Unito 30
MX - Messico 26
AT - Austria 24
FI - Finlandia 24
BD - Bangladesh 21
CA - Canada 20
PL - Polonia 20
CO - Colombia 19
CL - Cile 17
JP - Giappone 15
PY - Paraguay 15
NL - Olanda 14
ZA - Sudafrica 12
FR - Francia 10
IQ - Iraq 9
KZ - Kazakistan 9
EG - Egitto 8
ES - Italia 8
MY - Malesia 8
SE - Svezia 8
TR - Turchia 8
VE - Venezuela 8
DO - Repubblica Dominicana 7
DZ - Algeria 7
MA - Marocco 7
PK - Pakistan 7
IL - Israele 6
AU - Australia 5
CZ - Repubblica Ceca 5
LT - Lituania 5
RO - Romania 5
AZ - Azerbaigian 4
BE - Belgio 4
BG - Bulgaria 4
CR - Costa Rica 4
NP - Nepal 4
PA - Panama 4
PE - Perù 4
TN - Tunisia 4
CH - Svizzera 3
KE - Kenya 3
OM - Oman 3
RS - Serbia 3
SI - Slovenia 3
UY - Uruguay 3
AE - Emirati Arabi Uniti 2
AL - Albania 2
AO - Angola 2
BA - Bosnia-Erzegovina 2
CI - Costa d'Avorio 2
DK - Danimarca 2
EE - Estonia 2
GH - Ghana 2
GR - Grecia 2
IR - Iran 2
KG - Kirghizistan 2
SA - Arabia Saudita 2
SK - Slovacchia (Repubblica Slovacca) 2
SN - Senegal 2
SV - El Salvador 2
UZ - Uzbekistan 2
BF - Burkina Faso 1
BO - Bolivia 1
BY - Bielorussia 1
DM - Dominica 1
GA - Gabon 1
GL - Groenlandia 1
GT - Guatemala 1
GY - Guiana 1
HN - Honduras 1
HU - Ungheria 1
JO - Giordania 1
KW - Kuwait 1
KY - Cayman, isole 1
LB - Libano 1
LU - Lussemburgo 1
ML - Mali 1
MQ - Martinica 1
NZ - Nuova Zelanda 1
PH - Filippine 1
PR - Porto Rico 1
PS - Palestinian Territory 1
XK - ???statistics.table.value.countryCode.XK??? 1
YE - Yemen 1
Totale 10.294
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Città #
Hong Kong 5.016
Singapore 369
Dallas 224
Princeton 218
Chandler 209
Ho Chi Minh City 128
Ashburn 109
Dublin 106
Ann Arbor 97
Woodbridge 90
Beijing 72
Hanoi 71
São Paulo 64
Wilmington 57
Jacksonville 55
Dong Ket 50
Moscow 42
Los Angeles 38
Naples 37
Andover 36
New York 31
Nuremberg 27
Rio de Janeiro 24
Munich 22
Chennai 20
Pune 19
Warsaw 19
Fairfield 18
Seattle 18
Brooklyn 16
Houston 16
The Dalles 16
Belo Horizonte 15
Haiphong 15
Santa Clara 15
Salerno 14
Tokyo 14
Biên Hòa 12
Boardman 12
Curitiba 12
Da Nang 12
Guayaquil 12
Norwalk 12
Porto Alegre 12
Seoul 12
Thái Bình 12
Atlanta 11
Joinville 11
Phoenix 11
Quito 11
Sorocaba 11
Turku 11
Vimercate 10
Bogotá 9
Chicago 9
Santo André 9
Amsterdam 8
Boston 8
London 8
Ribeirão Preto 8
Springfield 8
Asunción 7
Brasília 7
Campinas 7
Columbus 7
Dhaka 7
Jakarta 7
Johannesburg 7
Milan 7
Montreal 7
Orem 7
Washington 7
Can Tho 6
Fort Worth 6
Fortaleza 6
Ha Long 6
Kuala Lumpur 6
Marcianise 6
Poplar 6
Santiago 6
Sarno 6
Stockholm 6
Thái Nguyên 6
Brno 5
Buenos Aires 5
Dearborn 5
Denver 5
Huế 5
Hải Dương 5
Luque 5
Maceió 5
Manaus 5
Mexico City 5
Rome 5
San Diego 5
San Francisco 5
San Marzano sul Sarno 5
Sumaré 5
Taboão da Serra 5
Tây Ninh 5
Totale 7.886
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Nome #
A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome 521
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 497
Etanercept as a successful therapy in autoinflammatory syndrome related to TRNT1 mutations: a case-based review 457
A multimethod approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes. 436
Medullary unidentified bright objects in Neurofibromatosis type 1: a case series 413
Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1 396
Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak: Data from the Campania Rare Disease Registry 334
Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations 311
CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype 300
(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome 273
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. 263
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 249
Multimodal evaluation of the cerebrovascular reserve in Neurofibromatosis type 1 patients with Moyamoya syndrome 222
Brain damage in glycogen storage disease type I. 176
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1 175
Hepatic Presentation of Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): Case Report and Systematic Review 155
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. 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) 108
Frequent persistence of hepatic abnormalities in children with hereditary fructose intolerance (HFI) is not correlated to specific gene mutations. 100
Interferon (IFN) treatment in pediatric chronic hepatitis B (CHB): a metanalysis 98
Noonan-like syndrome with loose anagen hair associated with growth hormone insensitivity and atypical neurological manifestations 95
Long term results of 2b Interferon treatment with and without steroid priming in chronic viral hepatitis B in children 93
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 86
Vitamin E improves clinical outcome of patients affected by glycogen storage disease type Ib 85
RASopathies and hemostatic abnormalities: key role of platelet dysfunction 82
Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques 76
Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: Genotype-phenotype correlation and literature review 73
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 70
Baraitser-Winter cerebrofrontofacial syndrome: Delineation of the spectrum in 42 cases 64
FOXI3 pathogenic variants cause one form of craniofacial microsomia 63
Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease 63
Bone metabolism in patients with type 1 neurofibromatosis: key role of sun exposure and physical activity 62
Retrospective multicentric study on non-optic CNS tumors in children and adolescents with neurofibromatosis type 1 62
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 62
Arg 1809 substitution in neurofibromin: Further evidence of a genotype-phenotype correlation in neurofibromatosis type 1 61
Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients 59
Efficacy of ACE-inhibitor therapy on renal disease in glycogen storage disease type 1: a multicentre retrospective study 58
Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defects 57
Reduced bone mineral density in glycogen storage disease type III: Evidence for a possible connection between metabolic imbalance and bone homeostasis 57
A pilot clinical trial with losartan in Myhre syndrome 55
Myasthenia gravis in a patient affected by glycogen storage disease type Ib: A further manifestation of an increased risk for autoimmune disorders? 55
Imbalanced cortisol concentrations in glycogen storage disease type I: evidence for a possible link between endocrine regulation and metabolic derangement 55
Dietary lipids in glycogen storage disease type III: A systematic literature study, case studies, and future recommendations 55
DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies 53
Thiamine responsive megaloblastic anemia: a novel SLC19A2 compound heterozygous mutation in two siblings 53
Liver Involvement in Congenital Disorders of Glycosylation: A Systematic Review 53
Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings 52
Granulocyte colony-stimulating factor in glycogen storage disease type 1b. Results of the European Study on Glycogen Storage Disease Type 1 52
Mutation update for the SATB2 gene 52
Guidelines for management of glycogen storage disease type I – European Study on Glycogen Storage Disease Type I (ESGSD I) 51
Alterations in metabolic patterns have a key role in diagnosis and progression of primrose syndrome 51
Risk of autoimmune diseases in patients with RASopathies: systematic study of humoral and cellular immunity 49
NPT4, a new microsomal phosphate transporter: mutation analysis in glycogen storage disease type Ic 49
Mosaic 13q13.2-ter deletion restricted to tissues of ectodermal and mesodermal origins 49
Mutations in ZBTB20 cause Primrose syndrome. 49
Plasma acylcarnitines and urine organic acids profiles provide evidence for possible mitochondrial dysfunction in glycogen storage disease type Ia 49
Clinical significance of family history and bicuspid aortic valve in children and young adult patients with Marfan syndrome 49
Mild phenotype associated with an interstitial deletion of the long arm of chromosome 1 48
A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes 48
Genome-wide DNA methylation analysis of a cohort of 41 patients affected by oculo-auriculo-vertebral spectrum (OAVS) 47
Adams Oliver syndrome: Description of a new phenotype with cerebellar abnormalities in a family. 46
Loeys-Dietz syndrome type 4, caused by chromothripsis, involving the TGFB2 gene 46
Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance 45
Cerebrovascular stenosis in neurofibromatosis type 1 and utility of magnetic resonance angiography: our experience and literature review 45
Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome 45
Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature 45
Clinical report of a brain magnetic resonance imaging finding in Noonan syndrome 44
Mitochondrial reprogramming in peripheral blood mononuclear cells of patients with glycogen storage disease type Ia 42
Medullary unidentified bright objects in Neurofibromatosis type 1: A case series 42
Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients. 42
Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type? 41
Molecular characterisation of GSD III subjects and identification of six novel mutations in AGL 41
Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22 41
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders. 41
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 40
Identification of two novel splice-site mutations in CHD7 gene in two patients with classical and atypical CHARGE syndrome phenotype 40
Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder 40
A novel homozygous mutation in the SLCO2A1 gene causing pachydermoperiostosis: Efficacy of hydroxychloroquine treatment 40
A specific serum lipid signature characterizes patients with glycogen storage disease type Ia 39
Type A niemann-pick disease. Description of three cases with delayed myelination 39
Infantile systemic hyalinosis: an atypical milder form 39
Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene. 39
Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type I 38
The 17β-hydroxysteroid dehydrogenase type 3 deficiency: a case report of an 18-year patient and review of the literature 37
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules 36
Combination of monosomy 5p15.3 and trisomy 9p23: Clinical and cytogenetic definition of both conditions 35
Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum 35
Variegated silencing throughepigenetic modifications of a large Xq region in a case of balanced X;2translocation with Incontinentia Pigmenti-like phenotype 35
Fetal growth patterns in Beckwith–Wiedemann syndrome 35
The SGLT2-inhibitor dapagliflozin improves neutropenia and neutrophil dysfunction in a mouse model of the inherited metabolic disorder GSDIb 34
A case of Klinefelter syndrome, mosaicism (46,XY/47,XXY), associated with anorexia nervosa 34
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 34
Primrose syndrome: Characterization of the phenotype in42 patients 34
Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome 34
Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants 33
SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan 33
Clinical and genetic variability of glycogen storage disease type IIIa: Seven novel AGL gene mutations in the Mediterranean area 32
Fertility and pregnancy in women affected by glycogen storage disease type I, results of a multicenter Italian study 32
In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS). 32
In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS). 32
Totale 9.572
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Categoria #
all - tutte 36.823
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 36.823
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021145 0 0 0 0 0 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
2025/20267.574 383 2.519 3.096 788 651 137 0 0 0 0 0 0
Totale 10.467