TREVISSON, EVA
 Distribuzione geografica
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Continente #
NA - Nord America 8.653
AS - Asia 3.131
EU - Europa 2.220
AF - Africa 841
SA - Sud America 673
OC - Oceania 137
Continente sconosciuto - Info sul continente non disponibili 30
Totale 15.685
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Nazione #
US - Stati Uniti d'America 8.210
SG - Singapore 911
CN - Cina 636
BR - Brasile 423
HK - Hong Kong 390
IT - Italia 375
DE - Germania 234
FI - Finlandia 194
SE - Svezia 158
VN - Vietnam 135
GB - Regno Unito 121
PL - Polonia 106
NL - Olanda 100
IN - India 82
TR - Turchia 74
FR - Francia 70
AU - Australia 68
UA - Ucraina 63
AT - Austria 62
ES - Italia 62
RU - Federazione Russa 61
JP - Giappone 56
CA - Canada 53
IR - Iran 51
KR - Corea 49
AR - Argentina 47
PT - Portogallo 47
TH - Thailandia 47
MX - Messico 45
CZ - Repubblica Ceca 38
ID - Indonesia 37
EC - Ecuador 36
MY - Malesia 36
ZA - Sudafrica 36
CO - Colombia 35
EG - Egitto 35
IL - Israele 35
PS - Palestinian Territory 34
PK - Pakistan 33
SK - Slovacchia (Repubblica Slovacca) 33
IE - Irlanda 32
ML - Mali 32
MA - Marocco 31
SA - Arabia Saudita 31
AE - Emirati Arabi Uniti 30
UZ - Uzbekistan 30
AZ - Azerbaigian 29
RO - Romania 29
TW - Taiwan 29
MU - Mauritius 28
NG - Nigeria 28
CH - Svizzera 27
CR - Costa Rica 27
CV - Capo Verde 27
MK - Macedonia 27
SN - Senegal 27
BJ - Benin 26
HU - Ungheria 26
NO - Norvegia 26
AO - Angola 25
CG - Congo 25
YE - Yemen 25
BE - Belgio 24
IQ - Iraq 24
LB - Libano 24
PE - Perù 24
PH - Filippine 24
RS - Serbia 24
SI - Slovenia 24
AM - Armenia 23
BY - Bielorussia 23
LA - Repubblica Popolare Democratica del Laos 23
LC - Santa Lucia 23
MR - Mauritania 23
NI - Nicaragua 23
PY - Paraguay 23
TT - Trinidad e Tobago 23
TZ - Tanzania 23
UG - Uganda 23
BO - Bolivia 22
BW - Botswana 22
CU - Cuba 22
GH - Ghana 22
IS - Islanda 22
KE - Kenya 22
KH - Cambogia 22
RE - Reunion 22
TN - Tunisia 22
ZM - Zambia 22
BF - Burkina Faso 21
CY - Cipro 21
DK - Danimarca 21
GM - Gambi 21
LV - Lettonia 21
AF - Afghanistan, Repubblica islamica di 20
AL - Albania 20
BB - Barbados 20
CI - Costa d'Avorio 20
CW - ???statistics.table.value.countryCode.CW??? 20
DO - Repubblica Dominicana 20
Totale 14.778
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Città #
Fairfield 1.252
Ashburn 752
Woodbridge 733
Singapore 606
Houston 603
Ann Arbor 560
Chandler 549
Cambridge 416
Seattle 413
Wilmington 361
Hong Kong 310
Beijing 232
Santa Clara 163
Jacksonville 162
Boardman 158
San Diego 128
Padova 118
Princeton 110
Los Angeles 97
Helsinki 87
New York 87
Chicago 84
Bytom 69
Medford 69
Munich 69
Des Moines 59
Dong Ket 52
Roxbury 51
Nanjing 43
Turku 43
Buffalo 40
São Paulo 39
Milan 38
Nuremberg 34
Ho Chi Minh City 33
Bamako 32
Melbourne 32
Vienna 32
London 31
Bangkok 30
Tashkent 30
Dublin 28
Salt Lake City 28
Dakar 27
Tokyo 27
Baku 25
Castries 23
Guangzhou 23
Shenyang 23
Cotonou 22
Lusaka 22
Managua 22
Praia 22
Waco 22
Ankara 21
Hanoi 21
Havana 21
Kampala 21
Nouakchott 21
Hefei 20
San José 20
Sanaa 20
Yerevan 20
Abidjan 19
Accra 19
Bridgetown 19
Lagos 19
Luanda 19
Nairobi 19
Ouagadougou 19
Riga 19
Vientiane 19
Dar es Salaam 18
Elk Grove Village 18
Kigali 18
Kingstown 18
Noumea 18
Phnom Penh 18
Ulan Bator 18
Dushanbe 17
Istanbul 17
Johannesburg 17
Libreville 17
Redondo Beach 17
Willemstad 17
Bishkek 16
Bogotá 16
Boston 16
Lima 16
Podgorica 16
Reykjavik 16
Addis Ababa 15
Amman 15
Brazzaville 15
Cayenne 15
Changsha 15
Minsk 15
Nassau 15
Tallinn 15
Warsaw 15
Totale 9.936
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Nome #
Primary Coenzyme Q10 Deficiency 978
Analysis of Coenzyme Q(10) in muscle and fibroblasts for the diagnosis of CoQ(10) deficiency syndromes 265
Age and sex prevalence estimate of Joubert syndrome in Italy. 231
hCOX18 and hCOX19: two human genes involved in cytochrome c oxidase assembly 228
The Arg1038Gly missense variant in the NF1 gene causes a mild phenotype without neurofibromas 215
Vanillic Acid Restores Coenzyme Q Biosynthesis and ATP Production in Human Cells Lacking COQ6 211
A novel deletion in the GJA12 gene causes Pelizaeus-Merzbacher-like disease 210
Correlation of peripapillary retinal nerve fibre layer thickness with visual acuity in paediatric patients affected by optic pathway glioma 210
Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B function 208
A Mutation in Para-Hydroxybenzoate-Polyprenyl Transferase (COQ2) Causes Primary Coenzyme Q10 Deficiency. 205
COX16 is required for assembly of cytochrome c oxidase in human cells and is involved in copper delivery to COX2 204
Breast cancer in neurofibromatosis 1: survival and risk of contralateral breast cancer in a five country cohort study 204
Usefulness and limitations of comprehensive characterization of mRNA splicing profiles in the definition of the clinical relevance of BRCA1/2 variants of uncertain significance 201
Is CFTR 621+3 A > G a cystic fibrosis causing mutation? 200
Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure. 196
RETINAL VASCULAR ABNORMALITIES IN A LARGE COHORT OF PATIENTS AFFECTED BY NEUROFIBROMATOSIS TYPE 1: A Study Using Optical Coherence Tomography Angiography. 195
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. 194
Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with sco2 mutations. 192
Molecular analysis of two uncharacterized sequence variants of the VHL gene. 189
Functional Complementation in Yeast Allows Molecular Characterization of Missense Argininosuccinate Lyase Mutations 185
Increased level of N-acetylaspartylglutamate (NAAG) in the CSF of a patient with Pelizaeus-Merzbacher-like disease due to mutation in the GJA12 gene. 184
Coenzyme Q biosynthesis in health and disease 184
Optic pathway glioma in type 1 neurofibromatosis: Review of its pathogenesis, diagnostic assessment, and treatment recommendations 184
Argininosuccinate lyase deficiency: Mutational spectrum in Italian patients and identification of a novel ASL pseudogene. 183
Natural history of optic pathway gliomas in a cohort of unselected patients affected by Neurofibromatosis 1 180
Ichthyosis and Kallmann syndrome: Not always a contiguous gene syndrome 179
Retinal Vascular and Neural Remodeling Secondary to Optic Nerve Axonal Degeneration 179
Alport syndrome: impact of digenic inheritance in patients management. 176
Clinical syndromes associated with Coenzyme Q10 deficiency. 175
Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency. 173
Vitamin K2 cannot substitute Coenzyme Q(10) as electron carrier in the mitochondrial respiratory chain of mammalian cells 173
A functionally dominant mitochondrial DNA mutation 171
Functional characterization of human COQ4, a gene required for Coenzyme Q(10) biosynthesis 168
p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas. 168
Yeast complementation is sufficiently sensitive to detect the residual activity of ASL alleles associated with mild forms of argininosuccinic aciduria 168
De novo trisomy 20p characterized by array comparative genomic hybridization: Report of a novel case and review of the literature. 165
Photosensitive epilepsy and long QT: expanding Timothy syndrome phenotype 165
Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3 164
Osteopathia striata with cranial sclerosis and Wilms tumor: Coincidence or consequence? 160
Retinal Vascular Abnormalities related to Neurofibromatosis Type 1: Natural History and Classification by OCT Angiography in 473 Patients 157
Molecular Genetics of Argininosuccinic Aciduria 156
Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis 155
Biallelic mutations in the TOGARAM1 gene cause a novel primary ciliopathy 154
Mutation analysis of COX18 in 29 patients with isolated cytochrome c oxidase deficiency. 153
Regression of gadolinium-enhanced lesions in patients affected by neurofibromatosis type 1 153
Effect of vanillic acid on COQ6 mutants identified in patients with coenzyme Q10 deficiency 153
Molecular characterization of the human COQ5 C-methyltransferase in coenzyme Q10 biosynthesis. 152
In vivo detection of Choroidal abnormalities related to NF1: Feasibility and comparison with standard NIH diagnostic criteria in pediatric patients 152
Further phenotypic heterogeneity of CoQ10 deficiency associated with Steroid Resistant Nephrotic Syndrome and novel COQ2 and COQ6 variants. 151
The Conserved Mitochondrial Twin Cx(9)C Protein Cmc2 Is a Cmc1 Homologue Essential for Cytochrome c Oxidase Biogenesis 147
Hybrid minigene assay: An efficient tool to characterize mrna splicing profiles of nf1 variants 147
Optical Coherence Tomography in the Diagnosis of Optic Pathway Gliomas 145
Coenzyme Q deficiency in muscle 144
X-linked brachytelephalangic chondrodysplasia punctata: a simple trait that is not so simple. 143
Integrated cgh/wes analyses advance understanding of aggressive neuroblastoma evolution: A case study 143
A synonymous splicing mutation in the SF3B4 gene segregates in a family with highly variable Nager syndrome. 142
Validation of CFTR intronic variants identified during cystic fibrosis population screening by a minigene splicing assay. 141
Genetics of coenzyme q10 deficiency. 141
Dysfunctional coping is related to impaired skin-related quality of life and psychological distress in patients with neurofibromatosis type 1 with major skin involvement 141
Haploinsufficiency of COQ4 causes coenzymeQ10 deficiency 139
Expanding the mutational spectrum of LZTR1 in schwannomatosis. 139
Coenzyme Q(10) is frequently reduced in muscle of patients with mitochondrial myopathy 137
LETM1, deleted in Wolf-Hirschhorn syndrome is required for normal mitochondrial morphology and cellular viability 136
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848 136
Severe Herpes Simplex Encephalitis: an Unusual Presentation of IPEX 132
Two novel compound heterozygous SAG mutations in an Italian patient with Oguchi disease: A genetic and multimodal retinal imaging study 131
Epilepsy in NF1: Epidemiologic, genetic, and clinical features. a monocentric retrospective study in a cohort of 784 patients 131
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules 128
DFNA20/26 and Other ACTG1-Associated Phenotypes: A Case Report and Review of the Literature 127
OPA1 and Its Clinical Implications 126
Ambra1 deficiency impairs mitophagy in skeletal muscle 125
Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma 125
Heterologous Expression in Yeast of Human Ornithine Carriers ORNT1 and ORNT2 and of ORNT1 Alleles Implicated in HHH Syndrome in Humans 125
Functional Analysis of Missense Mutations of OAT, Causing Gyrate Atrophy of Choroid and Retina. 124
Numerical activities of daily living in adults with neurofibromatosis type 1 124
Mutations in Assembly Factors Required for the Biogenesis of Mitochondrial Respiratory Chain 121
The COQ2 genotype predicts the severity of Coenzyme Q10 deficiency 121
Neurofibromatosis type 1 in two siblings due to Maternal Germline Mosaicism. 117
Choroidal Abnormalities in Pediatric NF1: A Cohort Natural History Study 117
C16ORF70/Mytho promotes healthy ageing in C. elegans and prevents cellular senescence in mammals 116
Is there a link between COQ6 and schwannomatosis? 116
Genetic bases and experimental models for the study of inherited metabolic diseases 115
COQ4 is required for the oxidative decarboxylation of the C1 carbon of coenzyme Q in eukaryotic cells 115
The Splicing of the Mitochondrial Calcium Uniporter Genuine Activator MICU1 Is Driven by RBFOX2 Splicing Factor during Myogenic Differentiation 114
Retinal Vascular and Neural Remodeling Secondary to Optic Nerve Axonal Degeneration: A Study Using OCT Angiography 112
Wilms tumor in patients with osteopathia striata with cranial sclerosis 107
Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders. 105
Characterization of the 5 ' region of human CoQ2, a gene causing primary CoQ10 deficiency 102
A yeast based assay establishes the pathogenicity of novel missense ACTA2 variants associated with aortic aneurysms 99
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1 99
Gene symbol:ASL. Disease: Argininosuccinate deficiency. 98
Dysfunctional coping is related to impaired skin-related QoL and psychological distress in patients with Neurofibromatosis type 1 96
Primary Coenzyme Q deficiencies: A literature review and online platform of clinical features to uncover genotype-phenotype correlations 95
A Misdiagnosed Familiar Brooke-Spiegler Syndrome: Case Report and Review of the Literature 93
Coenzyme Q Biosynthesis Disorders 91
CREB e ICER: Nuovi regolatori dell'espressione genica dipendente dall'AMP ciclico nella leucemia acuta pediatrica. 91
Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation 84
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation 74
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis 73
SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline 65
Totale 15.811
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Categoria #
all - tutte 47.425
article - articoli 43.022
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 3.032
Totale 93.479
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20211.289 0 0 0 79 177 119 39 115 198 211 220 131
2021/20221.588 26 136 197 115 137 185 125 97 167 30 112 261
2022/20231.032 195 137 28 138 139 123 0 80 135 12 34 11
2023/2024937 54 87 104 84 73 125 96 72 36 38 66 102
2024/20252.999 57 169 145 184 391 106 157 235 266 138 483 668
2025/20264.513 536 838 1.497 1.642 0 0 0 0 0 0 0 0
Totale 15.915