UniSa - IRIS Institutional Research Information System

MELIS, Daniela
 Distribuzione geografica
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Continente #
AS - Asia 7.711
NA - Nord America 3.307
EU - Europa 1.699
SA - Sud America 948
Continente sconosciuto - Info sul continente non disponibili 177
AF - Africa 85
OC - Oceania 6
Totale 13.933
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Nazione #
HK - Hong Kong 5.140
US - Stati Uniti d'America 3.162
SG - Singapore 1.110
IT - Italia 889
BR - Brasile 712
VN - Vietnam 533
CN - Cina 384
RU - Federazione Russa 207
FR - Francia 143
BD - Bangladesh 137
IE - Irlanda 112
IN - India 92
AR - Argentina 91
DE - Germania 87
KR - Corea 70
CA - Canada 56
ID - Indonesia 50
UA - Ucraina 47
GB - Regno Unito 46
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 20
PK - Pakistan 20
PL - Polonia 20
VE - Venezuela 19
PY - Paraguay 18
ZA - Sudafrica 18
PH - Filippine 14
ES - Italia 12
JM - Giamaica 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
CR - Costa Rica 7
PE - Perù 7
UY - Uruguay 7
UZ - Uzbekistan 7
AZ - Azerbaigian 6
RO - Romania 6
AU - Australia 5
BE - Belgio 5
CH - Svizzera 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
GT - Guatemala 3
HN - Honduras 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
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
PR - Porto Rico 2
SK - Slovacchia (Repubblica Slovacca) 2
SY - Repubblica araba siriana 2
TH - Thailandia 2
BB - Barbados 1
BY - Bielorussia 1
DM - Dominica 1
GA - Gabon 1
GL - Groenlandia 1
GY - Guiana 1
KH - Cambogia 1
KY - Cayman, isole 1
Totale 13.744
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Città #
Hong Kong 5.123
Singapore 540
San Jose 485
Milan 401
Dallas 238
Ashburn 229
Princeton 218
Chandler 210
Ho Chi Minh City 170
Council Bluffs 146
Beijing 139
Rome 127
Lauterbourg 124
The Dalles 116
Dublin 109
Hanoi 104
Ann Arbor 97
Woodbridge 91
Santa Clara 84
São Paulo 67
Wilmington 59
Jacksonville 57
New York 57
Los Angeles 56
Naples 51
Dong Ket 50
Memphis 45
Moscow 44
Figino 37
Andover 36
Turin 31
Nuremberg 29
Rio de Janeiro 29
Tokyo 27
Chennai 22
Munich 22
Brooklyn 21
Houston 21
Haiphong 20
Da Nang 19
Fairfield 19
Frankfurt am Main 19
Pune 19
Warsaw 19
Seattle 18
Atlanta 16
Belo Horizonte 16
Biên Hòa 16
Buffalo 15
Orem 15
Chicago 14
Guayaquil 14
Phoenix 14
Salerno 14
Amsterdam 13
Curitiba 13
Quito 13
Boardman 12
Bogotá 12
Mexico City 12
Norwalk 12
Porto Alegre 12
Seoul 12
Thái Bình 12
Joinville 11
Sorocaba 11
Toronto 11
Turku 11
Baghdad 10
Jakarta 10
Vimercate 10
Boston 9
Dhaka 9
Johannesburg 9
London 9
Ribeirão Preto 9
Santo André 9
Washington 9
Asunción 8
Brasília 8
Columbus 8
Hải Dương 8
Kingston 8
Montreal 8
Philadelphia 8
Springfield 8
Stockholm 8
Thái Nguyên 8
Buenos Aires 7
Campinas 7
Can Tho 7
Ha Long 7
Kuala Lumpur 7
Las Vegas 7
Montevideo 7
Nairobi 7
Santiago 7
Tashkent 7
Bari 6
Caracas 6
Totale 10.201
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Nome #
A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome 540
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 522
Etanercept as a successful therapy in autoinflammatory syndrome related to TRNT1 mutations: a case-based review 478
A multimethod approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes. 475
Medullary unidentified bright objects in Neurofibromatosis type 1: a case series 434
Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1 420
Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak: Data from the Campania Rare Disease Registry 361
CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype 338
Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations 330
(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome 305
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. 297
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 269
Multimodal evaluation of the cerebrovascular reserve in Neurofibromatosis type 1 patients with Moyamoya syndrome 242
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1 202
RASopathies and hemostatic abnormalities: key role of platelet dysfunction 202
Brain damage in glycogen storage disease type I. 201
Hepatic Presentation of Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): Case Report and Systematic Review 184
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules 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. 173
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) 135
FOXI3 pathogenic variants cause one form of craniofacial microsomia 132
Frequent persistence of hepatic abnormalities in children with hereditary fructose intolerance (HFI) is not correlated to specific gene mutations. 132
Long term results of 2b Interferon treatment with and without steroid priming in chronic viral hepatitis B in children 121
Interferon (IFN) treatment in pediatric chronic hepatitis B (CHB): a metanalysis 120
Vitamin E improves clinical outcome of patients affected by glycogen storage disease type Ib 112
Baraitser-Winter cerebrofrontofacial syndrome: Delineation of the spectrum in 42 cases 111
Noonan-like syndrome with loose anagen hair associated with growth hormone insensitivity and atypical neurological manifestations 110
Bone metabolism in patients with type 1 neurofibromatosis: key role of sun exposure and physical activity 106
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 105
Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques 97
FOXI3 pathogenic variants cause one form of craniofacial microsomia 94
Cerebrovascular stenosis in neurofibromatosis type 1 and utility of magnetic resonance angiography: our experience and literature review 93
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 93
Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: Genotype-phenotype correlation and literature review 88
DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies 86
Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defects 86
Retrospective multicentric study on non-optic CNS tumors in children and adolescents with neurofibromatosis type 1 86
Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease 85
A pilot clinical trial with losartan in Myhre syndrome 83
Arg 1809 substitution in neurofibromin: Further evidence of a genotype-phenotype correlation in neurofibromatosis type 1 82
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
Plasma acylcarnitines and urine organic acids profiles provide evidence for possible mitochondrial dysfunction in glycogen storage disease type Ia 80
Dietary lipids in glycogen storage disease type III: A systematic literature study, case studies, and future recommendations 80
Reduced bone mineral density in glycogen storage disease type III: Evidence for a possible connection between metabolic imbalance and bone homeostasis 80
Liver Involvement in Congenital Disorders of Glycosylation: A Systematic Review 80
Alterations in metabolic patterns have a key role in diagnosis and progression of primrose syndrome 79
Efficacy of ACE-inhibitor therapy on renal disease in glycogen storage disease type 1: a multicentre retrospective study 78
Myasthenia gravis in a patient affected by glycogen storage disease type Ib: A further manifestation of an increased risk for autoimmune disorders? 78
Loeys-Dietz syndrome type 4, caused by chromothripsis, involving the TGFB2 gene 77
Genome-wide DNA methylation analysis of a cohort of 41 patients affected by oculo-auriculo-vertebral spectrum (OAVS) 76
Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings 75
Risk of autoimmune diseases in patients with RASopathies: systematic study of humoral and cellular immunity 74
Granulocyte colony-stimulating factor in glycogen storage disease type 1b. Results of the European Study on Glycogen Storage Disease Type 1 74
Mild phenotype associated with an interstitial deletion of the long arm of chromosome 1 73
Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature 73
A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes 72
Mosaic 13q13.2-ter deletion restricted to tissues of ectodermal and mesodermal origins 71
Imbalanced cortisol concentrations in glycogen storage disease type I: evidence for a possible link between endocrine regulation and metabolic derangement 71
Adams Oliver syndrome: Description of a new phenotype with cerebellar abnormalities in a family. 70
Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance 69
Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients 69
Mutation update for the SATB2 gene 69
Clinical significance of family history and bicuspid aortic valve in children and young adult patients with Marfan syndrome 69
Thiamine responsive megaloblastic anemia: a novel SLC19A2 compound heterozygous mutation in two siblings 68
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders. 68
SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline 67
The role of unidentified bright objects in the neurocognitive profile of neurofibromatosis type 1 children: a volumetric MRI analysis 66
A specific serum lipid signature characterizes patients with glycogen storage disease type Ia 65
Guidelines for management of glycogen storage disease type I – European Study on Glycogen Storage Disease Type I (ESGSD I) 65
Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type? 64
Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome 64
Mutations in ZBTB20 cause Primrose syndrome. 64
Clinical report of a brain magnetic resonance imaging finding in Noonan syndrome 62
NPT4, a new microsomal phosphate transporter: mutation analysis in glycogen storage disease type Ic 62
A case of Klinefelter syndrome, mosaicism (46,XY/47,XXY), associated with anorexia nervosa 62
Mitochondrial reprogramming in peripheral blood mononuclear cells of patients with glycogen storage disease type Ia 60
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 60
A novel homozygous mutation in the SLCO2A1 gene causing pachydermoperiostosis: Efficacy of hydroxychloroquine treatment 60
CREBBP mutations in individuals without Rubinstein–Taybi syndrome phenotype 60
Medullary unidentified bright objects in Neurofibromatosis type 1: A case series 59
Fetal growth patterns in Beckwith–Wiedemann syndrome 59
Clinical and genetic variability of glycogen storage disease type IIIa: Seven novel AGL gene mutations in the Mediterranean area 58
Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum 58
Molecular characterisation of GSD III subjects and identification of six novel mutations in AGL 58
The SGLT2-inhibitor dapagliflozin improves neutropenia and neutrophil dysfunction in a mouse model of the inherited metabolic disorder GSDIb 57
Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type I 57
Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene. 57
Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder 57
In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS). 57
Involvement of endocrine system in a patient affected by glycogen storage disease 1b: speculation on the role of autoimmunity 56
SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan 56
Identification of two novel splice-site mutations in CHD7 gene in two patients with classical and atypical CHARGE syndrome phenotype 55
Combination of monosomy 5p15.3 and trisomy 9p23: Clinical and cytogenetic definition of both conditions 54
Infantile systemic hyalinosis: an atypical milder form 54
Variegated silencing throughepigenetic modifications of a large Xq region in a case of balanced X;2translocation with Incontinentia Pigmenti-like phenotype 53
Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants 52
The 17β-hydroxysteroid dehydrogenase type 3 deficiency: a case report of an 18-year patient and review of the literature 52
Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome 52
Enhancing cyst-like lesions of the white matter in tuberous sclerosis complex: a novel neuroradiological finding 52
Endocrine involvement in hepatic glycogen storage diseases: pathophysiology and implications for care 51
Totale 12.205
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Categoria #
all - tutte 45.572
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 45.572
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
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
2025/202610.563 383 2.519 3.096 788 651 260 838 230 276 608 238 676
2026/2027477 383 94 0 0 0 0 0 0 0 0 0 0
Totale 13.933