IRIS
MELIS, DANIELA
 Distribuzione geografica
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Continente #
AS - Asia 2.868
NA - Nord America 2.598
EU - Europa 2.103
SA - Sud America 363
AF - Africa 87
OC - Oceania 3
Continente sconosciuto - Info sul continente non disponibili 2
Totale 8.024
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Nazione #
US - Stati Uniti d'America 2.492
SG - Singapore 1.221
RU - Federazione Russa 1.026
VN - Vietnam 574
CN - Cina 571
IT - Italia 310
BR - Brasile 293
DE - Germania 195
HK - Hong Kong 186
NL - Olanda 111
FR - Francia 106
FI - Finlandia 100
GB - Regno Unito 73
CA - Canada 67
IN - India 66
JP - Giappone 46
UA - Ucraina 42
IE - Irlanda 39
CI - Costa d'Avorio 35
BD - Bangladesh 31
KR - Corea 29
ZA - Sudafrica 25
AR - Argentina 23
ES - Italia 22
MX - Messico 21
PH - Filippine 21
SE - Svezia 18
TH - Thailandia 16
PL - Polonia 14
IQ - Iraq 12
ID - Indonesia 11
TR - Turchia 11
VE - Venezuela 11
BE - Belgio 10
EC - Ecuador 9
PK - Pakistan 9
AT - Austria 8
CL - Cile 8
CO - Colombia 8
LT - Lituania 8
TW - Taiwan 8
UZ - Uzbekistan 8
JO - Giordania 7
DZ - Algeria 6
IL - Israele 6
EG - Egitto 5
JM - Giamaica 5
MY - Malesia 5
IR - Iran 4
KE - Kenya 4
MA - Marocco 4
NP - Nepal 4
AE - Emirati Arabi Uniti 3
KG - Kirghizistan 3
LB - Libano 3
NI - Nicaragua 3
PY - Paraguay 3
RO - Romania 3
SA - Arabia Saudita 3
SV - El Salvador 3
UY - Uruguay 3
AU - Australia 2
BO - Bolivia 2
CR - Costa Rica 2
CZ - Repubblica Ceca 2
KZ - Kazakistan 2
LV - Lettonia 2
TN - Tunisia 2
AL - Albania 1
AO - Angola 1
AZ - Azerbaigian 1
BG - Bulgaria 1
BH - Bahrain 1
BN - Brunei Darussalam 1
BW - Botswana 1
CH - Svizzera 1
CW - ???statistics.table.value.countryCode.CW??? 1
CY - Cipro 1
DK - Danimarca 1
DM - Dominica 1
ET - Etiopia 1
GN - Guinea 1
GP - Guadalupe 1
GR - Grecia 1
GT - Guatemala 1
GY - Guiana 1
HN - Honduras 1
HU - Ungheria 1
KI - Kiribati 1
LU - Lussemburgo 1
MD - Moldavia 1
MK - Macedonia 1
MT - Malta 1
NG - Nigeria 1
OM - Oman 1
PA - Panama 1
PE - Perù 1
PT - Portogallo 1
RS - Serbia 1
SI - Slovenia 1
Totale 8.017
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Città #
Singapore 574
San Jose 426
Ashburn 259
Moscow 242
Chandler 212
Hong Kong 172
Beijing 168
Ho Chi Minh City 166
Santa Clara 134
Hanoi 116
Hefei 100
Amsterdam 86
The Dalles 76
Naples 66
Los Angeles 65
Lauterbourg 59
Munich 59
Millbury 50
Jacksonville 45
Princeton 41
Buffalo 39
Tokyo 39
Nanjing 37
Boston 36
New York 35
São Paulo 35
Da Nang 30
Houston 30
Turku 29
Napoli 27
Helsinki 26
Montreal 25
Dallas 23
Des Moines 21
Frankfurt am Main 20
Brooklyn 19
Falkenstein 19
Haiphong 19
Seoul 18
Wilmington 18
Redondo Beach 17
Chennai 15
Chicago 15
Denver 15
Ottawa 15
Seattle 15
Council Bluffs 14
London 14
Orem 14
Phoenix 14
Nanchang 13
San Francisco 13
Rio de Janeiro 12
Atlanta 11
Augusta 11
Can Tho 11
Rome 11
Johannesburg 10
Manchester 10
Milan 10
Nuremberg 10
Stockholm 10
Warsaw 10
Biên Hòa 9
Lawrence 9
Mexico City 9
Washington 9
Bangkok 8
Hải Dương 8
Poplar 8
Pune 8
San Mateo 8
Shenyang 8
Tashkent 8
Amman 7
Mumbai 7
Paris 7
Tianjin 7
Bari 6
Brussels 6
Buenos Aires 6
Cagliari 6
Caracas 6
Charlotte 6
City of London 6
Dearborn 6
Genova 6
Jiaxing 6
Kronberg 6
New Delhi 6
Ninh Bình 6
Ann Arbor 5
Baghdad 5
Bragança Paulista 5
Campinas 5
Cape Town 5
Catania 5
Curitiba 5
Dublin 5
Düsseldorf 5
Totale 4.194
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Nome #
Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak: data from the Campania Rare Disease Registry 225
Sulfur amino acids in Cushing's disease: insight in homocysteine and taurine levels in patients with active and cured disease 199
The 17β-hydroxysteroid dehydrogenase type 3 deficiency: a case report of an 18-year patient and review of the literature. 179
Brain damage in glycogen storage disease type I 165
Sindrome di Gorlin: possibilità di una diagnosi precoce in bambini con macrocrania ? 164
Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: Genotype-phenotype correlation and literature review. 162
Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature. 158
Mulibrey nanism: Two novel mutations in a child identified by Array CGH and DNA sequencing 155
Aumentata prevalenza di osteoporosi nei pazienti con neurofibromatosi tipo 1 154
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 152
A new familial case of spondylo-epi-metaphyseal dysplasia with multiple dislocations Hall type (leptodactylic form). 149
Constitutional chromothripsis involving the critical region of 9q21.13 microdeletion syndrome 149
Efficacy of ACE-inhibitor therapy on renal disease in glycogen storage disease type 1: a multicentre retrospective study. 146
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. 143
Medullary unidentified bright objects in Neurofibromatosis type 1: A case series 143
Severe impact of late diagnosis of congenital adrenal hyperplasia on gender identity, sexual orientation and function: case report and review of the literature 140
Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature 138
Variegated silencing of a large Xq region causes hypomelanosis of Ito phenotype in a case of balanced X;2 translocation. 138
Good cognitive performances in a child with Prader-Willi syndrome. 138
Myasthenia gravis in a patient affected by glycogen storage disease type Ib: A further manifestation of an increased risk for autoimmune disorders? 135
New insights in the interpretation of array-CGH: Autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants 134
Alterations in metabolic patterns have a key role in diagnosis and progression of primrose syndrome 134
Clinical Description of a Patient Carrying the Smallest Reported Deletion Involving 10p14 Region 133
RASopathies and hemostatic abnormalities: key role of platelet dysfunction 129
Inattivazione sbilanciata di un cromosoma X derivato di una paziente con monosomia Xq28 126
Fulminant autoimmune hepatitis in a girl with 22q13 deletion syndrome: a previously unreported association 126
Plasma acylcarnitines and urine organic acids profiles provide evidence for possible mitochondrial dysfunction in glycogen storage disease type Ia 126
Sensorineural Hearing Loss in a Patient Affected by Congenital Cytomegalovirus Infection: Is It Useful to Identify Comorbid Pathologies? 125
Bone metabolism in patients with type 1 neurofibromatosis: key role of sun exposure and physical activity 125
Variegated silencing throughepigenetic modifications of a large Xq region in a case of balanced X;2translocation with Incontinentia Pigmenti-like phenotype 124
Vitamin E supplementation improves neutropenia and reduces the frequency of infections in patients with glycogen storage disease type I b 121
Effect of long-term GH treatment in a patient with CHARGE association 121
Risk of autoimmune diseases in patients with RASopathies: systematic study of humoral and cellular immunity 117
Selective cognitive impairment and tall stature due to chromosome 19 supernumerary ring. 114
Etanercept as a successful therapy in autoinflammatory syndrome related to TRNT1 mutations: a case-based review. 114
Olfactory bulb enlargement in neurofibromatosis type 1: report of a novel finding 113
Mitochondrial reprogramming in peripheral blood mononuclear cells of patients with glycogen storage disease type Ia 112
Hepatic Presentation of Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): Case Report and Systematic Review 112
Trisomy 18 and hypertrophy cardiomyopathy in an 18-year-old woman. 111
Nephrolithiasis in Cushing's disease: prevalence, etiopathogenesis, and modification after disease cure 111
Involvement of endocrine system in a patient affected by glycogen storage disease 1b: speculation on the role of autoimmunity 111
Evaluation of circulating levels and renal clearance of natural amino acids in patients with Cushing's disease 110
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 109
Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1 109
Identification of two novel splice-site mutations in CHD7 gene in two patients with classical and atypical CHARGE syndrome phenotype 108
Cerebrovascular stenosis in neurofibromatosis type 1 and utility of magnetic resonance angiography: our experience and literature review 106
A specific serum lipid signature characterises patients with glycogen storage disease type Ia 104
Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene 102
The growth hormone-insulin-like growth factor axis in glycogen storage disease type 1: evidence of different growth patterns and insulin-like growth factor levels in patients with glycogen storage disease type 1a and 1b. 100
Impaired bone metabolism in glycogen storage disease type 1 is associated with poor metabolic control in type 1a and with granulocyte colony-stimulating factor therapy in type 1b. 100
Enhancing cyst-like lesions of the white matter in tuberous sclerosis complex: a novel neuroradiological finding 99
Infantile systemic hyalinosis: an atypical milder form. 98
Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease 97
Varianti polimorfiche della regione 11q25:difficoltà di interpretazione dei risultati della array CGH. 97
Vitamin E improves clinical outcome of patients affected by glycogen storage disease type Ib 96
DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies 95
A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies Myhre Syndrome. 94
Endocrine involvement in hepatic glycogen storage diseases: pathophysiology and implications for care 93
Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings 93
Clinical report of a brain magnetic resonance imaging finding in Noonan syndrome 93
Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type I 92
Immunological Aspects of Kabuki Syndrome: A Retrospective Multicenter Study of the Italian Primary Immunodeficiency Network (IPINet) 92
Progression of renal damage in glycogen storage disease type I is associated to hyperlipidemia: a multicenter prospective Italian study 91
A novel homozygous mutation in the SLCO2A1 gene causing pachydermoperiostosis: Efficacy of hydroxychloroquine treatment 89
Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type? 86
An emerging phenotype of proximal 11q deletions. 81
Multiomics approach provides insight into altered choline metabolism and liver injury in patients with glycogen storage disease type Ia 48
Totale 8.153
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Categoria #
all - tutte 26.232
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 26.232
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022298 3 0 1 5 2 9 1 9 39 39 71 119
2022/2023502 55 37 16 40 53 50 15 49 69 84 25 9
2023/2024382 24 68 35 31 25 47 6 58 5 8 50 25
2024/20252.137 84 80 10 37 82 145 196 139 111 215 878 160
2025/20264.227 466 303 427 466 802 182 496 176 473 255 90 91
2026/202756 56 0 0 0 0 0 0 0 0 0 0 0
Totale 8.153