UniSa - IRIS Institutional Research Information System

MELIS, Daniela
 Distribuzione geografica
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Continente #
AS - Asia 5.962
NA - Nord America 1.718
EU - Europa 721
SA - Sud America 498
AF - Africa 30
OC - Oceania 6
Totale 8.935
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Nazione #
HK - Hong Kong 5.021
US - Stati Uniti d'America 1.670
BR - Brasile 399
SG - Singapore 314
VN - Vietnam 255
RU - Federazione Russa 194
CN - Cina 179
IT - Italia 161
IE - Irlanda 109
DE - Germania 62
KR - Corea 56
UA - Ucraina 46
IN - India 42
AR - Argentina 34
FI - Finlandia 24
AT - Austria 22
EC - Ecuador 20
ID - Indonesia 20
GB - Regno Unito 19
CA - Canada 15
MX - Messico 15
CO - Colombia 14
BD - Bangladesh 13
NL - Olanda 12
CL - Cile 11
FR - Francia 10
JP - Giappone 10
PL - Polonia 10
PY - Paraguay 10
KZ - Kazakistan 8
TR - Turchia 7
ZA - Sudafrica 6
AU - Australia 5
CZ - Repubblica Ceca 5
DO - Repubblica Dominicana 5
DZ - Algeria 5
IL - Israele 5
MY - Malesia 5
SE - Svezia 5
VE - Venezuela 5
BE - Belgio 4
BG - Bulgaria 4
ES - Italia 4
LT - Lituania 4
PA - Panama 4
PK - Pakistan 4
RO - Romania 4
AZ - Azerbaigian 3
CH - Svizzera 3
EG - Egitto 3
IQ - Iraq 3
NP - Nepal 3
RS - Serbia 3
SI - Slovenia 3
TN - Tunisia 3
AE - Emirati Arabi Uniti 2
AO - Angola 2
BA - Bosnia-Erzegovina 2
CI - Costa d'Avorio 2
CR - Costa Rica 2
DK - Danimarca 2
EE - Estonia 2
GH - Ghana 2
GR - Grecia 2
IR - Iran 2
KE - Kenya 2
KG - Kirghizistan 2
MA - Marocco 2
PE - Perù 2
SA - Arabia Saudita 2
UY - Uruguay 2
AL - Albania 1
BF - Burkina Faso 1
BO - Bolivia 1
BY - Bielorussia 1
GA - Gabon 1
GL - Groenlandia 1
GT - Guatemala 1
HN - Honduras 1
HU - Ungheria 1
KY - Cayman, isole 1
LB - Libano 1
LU - Lussemburgo 1
ML - Mali 1
MQ - Martinica 1
NZ - Nuova Zelanda 1
OM - Oman 1
PH - Filippine 1
PR - Porto Rico 1
PS - Palestinian Territory 1
SK - Slovacchia (Repubblica Slovacca) 1
SV - El Salvador 1
UZ - Uzbekistan 1
YE - Yemen 1
Totale 8.935
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Città #
Hong Kong 5.010
Dallas 224
Princeton 218
Chandler 209
Singapore 144
Dublin 106
Ann Arbor 97
Woodbridge 90
Ashburn 71
Ho Chi Minh City 70
Wilmington 57
Jacksonville 55
Dong Ket 50
Beijing 47
Hanoi 43
Moscow 41
São Paulo 39
Naples 37
Andover 36
Los Angeles 30
Nuremberg 26
Munich 22
Pune 19
Fairfield 18
New York 17
Seattle 16
Chennai 15
Rio de Janeiro 15
Brooklyn 14
Salerno 14
Houston 13
Boardman 12
Norwalk 12
Santa Clara 12
Seoul 12
Turku 11
Phoenix 10
Vimercate 10
Atlanta 9
Haiphong 9
The Dalles 9
Tokyo 9
Warsaw 9
Biên Hòa 8
Bogotá 8
Curitiba 8
Da Nang 8
Porto Alegre 8
Quito 8
Springfield 8
Amsterdam 7
Belo Horizonte 7
Columbus 7
Guayaquil 7
London 7
Thái Bình 7
Washington 7
Can Tho 6
Fort Worth 6
Joinville 6
Marcianise 6
Santo André 6
Sarno 6
Boston 5
Brno 5
Dearborn 5
Fortaleza 5
Ha Long 5
Huế 5
Milan 5
San Diego 5
San Francisco 5
San Marzano sul Sarno 5
Asunción 4
Brussels 4
Campinas 4
Cuenca 4
Dhaka 4
Fisciano 4
Helsinki 4
Kuala Lumpur 4
Luque 4
Mexico City 4
Montreal 4
Panama City 4
Pellezzano 4
Prineville 4
Ribeirão Preto 4
Rome 4
Shanghai 4
Taboão da Serra 4
Thái Nguyên 4
Tây Ninh 4
Vienna 4
Wuhan 4
Almaty 3
Ankara 3
Baghdad 3
Brasília 3
Buenos Aires 3
Totale 7.281
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Nome #
A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome 511
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 485
Etanercept as a successful therapy in autoinflammatory syndrome related to TRNT1 mutations: a case-based review 450
A multimethod approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes. 427
Medullary unidentified bright objects in Neurofibromatosis type 1: a case series 407
Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1 381
Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak: Data from the Campania Rare Disease Registry 324
Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations 299
CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype 285
(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome 251
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. 251
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 242
Multimodal evaluation of the cerebrovascular reserve in Neurofibromatosis type 1 patients with Moyamoya syndrome 208
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1 165
Brain damage in glycogen storage disease type I. 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. 148
Hepatic Presentation of Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): Case Report and Systematic Review 140
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) 104
Frequent persistence of hepatic abnormalities in children with hereditary fructose intolerance (HFI) is not correlated to specific gene mutations. 95
Interferon (IFN) treatment in pediatric chronic hepatitis B (CHB): a metanalysis 94
Long term results of 2b Interferon treatment with and without steroid priming in chronic viral hepatitis B in children 90
Noonan-like syndrome with loose anagen hair associated with growth hormone insensitivity and atypical neurological manifestations 88
Vitamin E improves clinical outcome of patients affected by glycogen storage disease type Ib 81
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 77
Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques 67
RASopathies and hemostatic abnormalities: key role of platelet dysfunction 63
Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: Genotype-phenotype correlation and literature review 58
Retrospective multicentric study on non-optic CNS tumors in children and adolescents with neurofibromatosis type 1 57
Baraitser-Winter cerebrofrontofacial syndrome: Delineation of the spectrum in 42 cases 54
FOXI3 pathogenic variants cause one form of craniofacial microsomia 53
Reduced bone mineral density in glycogen storage disease type III: Evidence for a possible connection between metabolic imbalance and bone homeostasis 53
Arg 1809 substitution in neurofibromin: Further evidence of a genotype-phenotype correlation in neurofibromatosis type 1 51
Imbalanced cortisol concentrations in glycogen storage disease type I: evidence for a possible link between endocrine regulation and metabolic derangement 50
Dietary lipids in glycogen storage disease type III: A systematic literature study, case studies, and future recommendations 50
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 49
DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies 48
Bone metabolism in patients with type 1 neurofibromatosis: key role of sun exposure and physical activity 48
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 46
Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defects 45
Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease 45
Clinical significance of family history and bicuspid aortic valve in children and young adult patients with Marfan syndrome 45
Mild phenotype associated with an interstitial deletion of the long arm of chromosome 1 44
Genome-wide DNA methylation analysis of a cohort of 41 patients affected by oculo-auriculo-vertebral spectrum (OAVS) 44
Alterations in metabolic patterns have a key role in diagnosis and progression of primrose syndrome 44
Liver Involvement in Congenital Disorders of Glycosylation: A Systematic Review 44
A pilot clinical trial with losartan in Myhre syndrome 42
Risk of autoimmune diseases in patients with RASopathies: systematic study of humoral and cellular immunity 42
Efficacy of ACE-inhibitor therapy on renal disease in glycogen storage disease type 1: a multicentre retrospective study 42
Myasthenia gravis in a patient affected by glycogen storage disease type Ib: A further manifestation of an increased risk for autoimmune disorders? 42
Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients 42
Clinical report of a brain magnetic resonance imaging finding in Noonan syndrome 41
Granulocyte colony-stimulating factor in glycogen storage disease type 1b. Results of the European Study on Glycogen Storage Disease Type 1 41
Thiamine responsive megaloblastic anemia: a novel SLC19A2 compound heterozygous mutation in two siblings 39
Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings 37
Mutation update for the SATB2 gene 37
Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22 37
Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature 37
Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder 35
NPT4, a new microsomal phosphate transporter: mutation analysis in glycogen storage disease type Ic 34
Guidelines for management of glycogen storage disease type I – European Study on Glycogen Storage Disease Type I (ESGSD I) 34
Mutations in ZBTB20 cause Primrose syndrome. 34
Plasma acylcarnitines and urine organic acids profiles provide evidence for possible mitochondrial dysfunction in glycogen storage disease type Ia 34
Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance 33
Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type? 33
Mosaic 13q13.2-ter deletion restricted to tissues of ectodermal and mesodermal origins 33
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders. 32
A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes 31
Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome 30
Loeys-Dietz syndrome type 4, caused by chromothripsis, involving the TGFB2 gene 30
Molecular characterisation of GSD III subjects and identification of six novel mutations in AGL 30
SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan 30
Combination of monosomy 5p15.3 and trisomy 9p23: Clinical and cytogenetic definition of both conditions 29
The SGLT2-inhibitor dapagliflozin improves neutropenia and neutrophil dysfunction in a mouse model of the inherited metabolic disorder GSDIb 29
Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants 28
Exosomal MicroRNAs as Potential Biomarkers of Hepatic Injury and Kidney Disease in Glycogen Storage Disease Type Ia Patients 28
Fertility and pregnancy in women affected by glycogen storage disease type I, results of a multicenter Italian study 28
Identification of two novel splice-site mutations in CHD7 gene in two patients with classical and atypical CHARGE syndrome phenotype 28
Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients. 28
Primrose syndrome: Characterization of the phenotype in42 patients 28
A novel homozygous mutation in the SLCO2A1 gene causing pachydermoperiostosis: Efficacy of hydroxychloroquine treatment 28
In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS). 28
Mitochondrial reprogramming in peripheral blood mononuclear cells of patients with glycogen storage disease type Ia 27
Infantile systemic hyalinosis: an atypical milder form 27
Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome 27
Type A niemann-pick disease. Description of three cases with delayed myelination 26
Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type I 26
Nephrological findings and genotype-phenotype correlation in Beckwith-Wiedemann syndrome 26
Fetal growth patterns in Beckwith–Wiedemann syndrome 26
Cerebrovascular stenosis in neurofibromatosis type 1 and utility of magnetic resonance angiography: our experience and literature review 25
Adams Oliver syndrome: Description of a new phenotype with cerebellar abnormalities in a family. 25
New insights in the interpretation of array-CGH: Autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants 25
CREBBP mutations in individuals without Rubinstein–Taybi syndrome phenotype 25
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules 24
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 24
Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene. 24
Medullary unidentified bright objects in Neurofibromatosis type 1: A case series 23
Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes 23
A specific serum lipid signature characterizes patients with glycogen storage disease type Ia 22
The 17β-hydroxysteroid dehydrogenase type 3 deficiency: a case report of an 18-year patient and review of the literature 22
Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum 22
Totale 8.499
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Categoria #
all - tutte 32.116
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 32.116
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021151 0 0 0 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
2025/20266.215 383 2.519 3.096 217 0 0 0 0 0 0 0 0
Totale 9.108