IRIS
DANESINO, CESARE
 Distribuzione geografica
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Continente #
NA - Nord America 11.855
AS - Asia 7.306
EU - Europa 6.282
SA - Sud America 821
AF - Africa 257
Continente sconosciuto - Info sul continente non disponibili 223
OC - Oceania 34
Totale 26.778
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Nazione #
US - Stati Uniti d'America 11.431
CN - Cina 3.789
SG - Singapore 1.573
IE - Irlanda 1.392
UA - Ucraina 868
HK - Hong Kong 684
DE - Germania 670
FI - Finlandia 663
IT - Italia 643
RU - Federazione Russa 623
BR - Brasile 593
VN - Vietnam 587
SE - Svezia 384
GB - Regno Unito 368
FR - Francia 361
CA - Canada 172
ZA - Sudafrica 155
IN - India 140
BD - Bangladesh 98
AR - Argentina 75
NL - Olanda 56
ES - Italia 53
JP - Giappone 52
MX - Messico 52
IQ - Iraq 50
BE - Belgio 46
EC - Ecuador 45
PL - Polonia 45
TR - Turchia 40
PK - Pakistan 36
ID - Indonesia 35
VE - Venezuela 29
CO - Colombia 27
AT - Austria 26
SA - Arabia Saudita 26
AU - Australia 24
HN - Honduras 24
NI - Nicaragua 24
TT - Trinidad e Tobago 24
UZ - Uzbekistan 24
GT - Guatemala 23
MA - Marocco 23
PH - Filippine 23
CL - Cile 21
CR - Costa Rica 20
IL - Israele 20
MY - Malesia 18
JM - Giamaica 17
SV - El Salvador 17
GP - Guadalupe 15
PR - Porto Rico 15
JO - Giordania 14
CW - ???statistics.table.value.countryCode.CW??? 13
TN - Tunisia 13
LT - Lituania 12
CZ - Repubblica Ceca 11
DZ - Algeria 10
IR - Iran 10
NP - Nepal 10
AE - Emirati Arabi Uniti 9
AL - Albania 9
AZ - Azerbaigian 9
EG - Egitto 9
NZ - Nuova Zelanda 9
PE - Perù 9
RO - Romania 9
BO - Bolivia 8
ET - Etiopia 8
KE - Kenya 8
PY - Paraguay 8
EE - Estonia 7
KR - Corea 7
TH - Thailandia 7
DO - Repubblica Dominicana 6
EU - Europa 6
KG - Kirghizistan 6
CH - Svizzera 5
CI - Costa d'Avorio 5
CY - Cipro 5
OM - Oman 5
SC - Seychelles 5
AO - Angola 4
GR - Grecia 4
KW - Kuwait 4
MU - Mauritius 4
PA - Panama 4
SM - San Marino 4
SN - Senegal 4
AM - Armenia 3
BB - Barbados 3
GE - Georgia 3
KH - Cambogia 3
LB - Libano 3
MD - Moldavia 3
SI - Slovenia 3
SK - Slovacchia (Repubblica Slovacca) 3
UY - Uruguay 3
BH - Bahrain 2
GA - Gabon 2
GD - Grenada 2
Totale 26.532
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Città #
Dublin 1.390
Chandler 1.389
Jacksonville 1.029
San Jose 978
Ashburn 876
Dallas 866
Nanjing 828
Singapore 821
Hong Kong 672
Beijing 619
Council Bluffs 599
Boardman 410
Nanchang 337
Princeton 256
Los Angeles 246
Lawrence 242
Shenyang 240
Medford 233
Wilmington 233
Changsha 231
Hebei 222
Lauterbourg 213
Ann Arbor 202
New York 192
Jiaxing 191
Ho Chi Minh City 179
Hanoi 158
Helsinki 154
Tianjin 148
Johannesburg 142
Hangzhou 135
Munich 131
Shanghai 124
Milan 119
Buffalo 111
Santa Clara 106
Moscow 105
Woodbridge 92
Redondo Beach 78
Turku 66
Pavia 62
São Paulo 60
Toronto 56
Chicago 55
Orem 53
Verona 53
Houston 52
Atlanta 51
Tokyo 51
Frankfurt am Main 48
San Francisco 47
Seattle 44
Brussels 43
London 40
Brooklyn 39
Norwalk 39
Warsaw 39
Montreal 37
Rome 36
Falkenstein 34
Denver 31
Phoenix 31
Chennai 30
Stockholm 28
Des Moines 25
Jinan 25
Mexico City 25
Managua 24
Da Nang 23
North Bergen 23
Guangzhou 22
Dhaka 21
Manchester 21
Amsterdam 20
Tashkent 20
The Dalles 20
Fairfield 19
Auburn Hills 18
Columbus 18
Kunming 18
Rio de Janeiro 18
Belo Horizonte 17
Florence 17
Nuremberg 17
Quito 17
Taizhou 17
Zhengzhou 17
Haiphong 16
Naples 16
Philadelphia 16
Poplar 16
San Salvador 16
Boston 15
Ankara 14
Biên Hòa 14
Charlotte 14
Guatemala City 14
New Delhi 14
Ningbo 14
San José 14
Totale 17.077
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Nome #
Disegnare, attraversare, cancellare i confini. una prospettiva interdisciplinare 233
Advanced magnetic resonance imaging in benign hereditary chorea: study of two familial cases. 184
Bioinformatic Analysis of Pathogenic Missense Mutationsof Activin Receptor Like Kinase 1 Ectodomain 170
A Chaperone Enhances Blood α-Glucosidase Activity in Pompe Disease Patients Treated With Enzyme Replacement Therapy. 168
Effect of ionizing radiation exposure on proliferation and cell cycle distribution in cells derived from shwachman-diamond syndrome affected patients 161
Familial platelet disorder with propensity to acute myelogenous leukemia: Genetic heterogeneity and progression to leukemia via acquisition of clonal chromosome anomalies 158
Dietary treatment in adult-onset type II glycogenosis. 158
Circulating microRNAs In Hereditary Hemorrhagic Telangiectasia: Preliminary Results Identify Significant Differences Among Patients 158
A novel mutation and novel features in Nijmegen breakage syndrome. 157
Coexistence of mitochondrial DNA and beta myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure. 157
A large-scale association study to assess the impact of known variants of the human INHA gene on premature ovarian failure. 155
Adult-onset type II glycogenosis (GSDII): Clinical spectrum and enzyme replacement therapy (ERT) 154
Changes in nutritional status and body composition during enzyme replacementtherapy in adult-onset type II glycogenosis. 153
Abnormal cell surface antigen expression in individuals with variant CD45 splicing and histiocytosis. 152
The strange case of the lost NRAS mutation in a child with juvenile myelomonocytic leukemia. 151
A proportion of patients with lymphoma may harbor mutations of the perforin gene 151
Functional analysis of a novel ENG variant in a patient with hereditary hemorrhagic telangiectasia (HHT) and pulmonary arterial hypertension (PAH) identifies a new SP1 binding site 151
Dietary treatment in adult-onset type II glycogenosis. 148
Citochimica, autoradiografia e ultrastruttura di cellule della granulosa ovarica umana "in vitro". 144
Analisi di linkage in 4 famiglie con Rendu Weber Osler. 144
Comment on: Corpus callosum hypoplasia and associated brain anomalies in Nijmegen breakage syndrome. 143
Adult onset and atypical presentation of hemophagocytic lymphohistiocytosis in siblings carrying PRF1 mutations. 143
Clinical, genetic amd immunologic analysis of a family affected by Ozena. 142
Blood cell mitochondrial DNA content and premature ovarian aging 142
Can GH induce chromosome breaks or microsatellite instability in GH-deficient children? 141
Hemophagocytic lymphohistiocytosis due to germline mutations in SH2D1A, the X-linked lymphoproliferative disease gene 141
Enzyme replacement therapy (ERT) in adult-onset type II glycogenosis (GSDII) 140
Effect of X-rays on DNA repair pathways in lymphoblastoid cell lines derived from Shwachman-Diamond syndrome patients. 140
Bioinformatics as a Starting Point for the Analysis of ALK1 Missense Mutations 140
Concurrent cytogenetic and molecular investigations in uterine and ovarian neoplasms 139
Rischio di ricorrenza di Sindrome di Turner. 139
Analysis of ENG and ACVRL1 genes in 137 HHT Italian families identifies 76 different mutations (24 novel). Comparison with other European studies. 138
Isochromosome (7) (q10) in Schwachman syndrome without MDS/AML and role of chromosome 7 anomalies in myeloproliferative disorders. 137
Interobserver agreement in diagnosing liver involvement in hereditary hemorrhagic telangiectasia by Doppler ultrasound. 137
Immunohistochemical analysis of a merkeloma observed in a patient affected byhereditary haemorrhagic telangiectasia. 137
Familial hemophagocytic lymphohistiocytosis: how late can the onset be? 135
Six novel mutations in the PRF! gene in children with haemophagocytic lymphoistiocytosis. 134
Characterization of a mutation in the zona pellucida module of Endoglin that causes Hereditary Hemorrhagic Telangiectasia 134
Constitutional trisomy 8 as first mutation in multistep carcinogenesis: clinical, cytogenetic and molecular data on three cases 133
Angiotensin converting enzyme gene deletion allele is idenpendently and strongly associated with coronary atherosclerosis and myocardial infraction. 132
Parental origin of the deletion del(20q) in Shwachman-Diamond patients and loss of the paternally derived allele of the imprinted L3MBTL1 gene 132
Familial myelodysplastic syndromed, monosomy 7/trisomy 8, and mutator effects. 132
Early onset of gastric carcinoma and constitutional deletion of 18p. 131
A liveborn 69,XXX triploid. Origin, X chromosome activity and gene dosage 131
Agenesis of corpus callosumwith mosaicism 46,XY/47,XY extra ring chromosome 131
Argon plasma coagulation is an effective treatment for hereditary hemorrhagic telangiectasia patients with severe nosebleeds. 131
Isochromosome 7q10 in Shwachman Syndrome without MDS/AML and role of chromosome 7 anomalies in myeloproliferative disorders. 130
A homozygous missense arginine to histidine substitution at position 482 of the beta-galactosidase in an Italian infantile GM-1 gangliosidosis patient 130
Bioimpedance Phase Angle as a Prognostic Tool in Late-Onset Pompe Disease: A Single-Centre Prospective Study With a 15-year Follow-Up 129
A large-scale association study to assess the impact of known variants of the human INHA gene on premature ovarian failure. 129
Increase of circulating endothelial cells in patients with Hereditary Hemorrhagic Telangiectasia. 129
Different forms of pulmonary hypertension in a family with clinical and genetic evidence for hereditary hemorrhagic teleangectasia type 2 129
Familial clustering of unexplained transient respiratory distress in 12 newborns from three unrelated families suggests an autosomal-recessive inheritance. 128
FAMILIAL PARTIAL MONOSOMY 7 AND MYELODYSPLASIA: DIFFERENT PARENTAL ORIGIN OF THE 7 INVOLVED SUGGESTS THE ACTION OF A MUTATOR GENE 128
Case Report: Heterozygous Germline Variant in EIF6 Additional to Biallelic SBDS Pathogenic Variants in a Patient With Ribosomopathy Shwachman-Diamond Syndrome 127
Cytogenetic abnormalities in PHA-stimulated lymphocytes from patients with Langherans cell histiocytosis 127
Recombinant alpha-glucosidase in adult-onset type II glycogenosis: The experience with the first Italian patient, from expanded access programmes to marketing authorization 127
Different outcomes of allogeneic hematopoietic stem cell transplant in a pair of twins affected by juvenile myelomonocytic leukemia. 127
Enzyme replacement therapy in adult-onset type II glycogenosis 127
Adult-onset type II glycogenosis (GSDII): Clinical spectrum and enzyme replacement therapy (ERT) 126
Mapping of genes predisposing to familial hemophagocytic lymphohistiocytosis (FHL) using linkage analysis. 124
Hereditary Hemorrhagic Telangiectasia: Breakpoint Characterization of a Novel Large Deletion in ACVRL1 Suggests the Causing Mechanism. 124
Absence of acquired copy number neutral loss of heterozygosity (CN-LOH) of chromosome 7 in a series of 10 patients with Shwachman-Diamond syndrome. 124
Rendu-Osler-Weber patients have an increasd frequency of mature endothelial cells in peripheral blood 124
Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis. 123
Benign Hereditary Chorea: From clinic to basic research... and back ( Letter ) 123
Early-onset ptosis in type II glycogenosis 123
Radiosensitivity and DNA damage repair in Lymphoblastoid cell lines derived from Shwachman-Diamond syndrome patients 123
Isochromosome (7)(q10) in Shwachman Syndrome Without MDS/AML and Role of Chromosome 7 Anomalies in Myeloproliferative Disorders 123
Clinical, genetic and immunologic analysis of a family affected by ozena 122
STRUCTURAL MODELLING OF ALK1 ECTO-DOMAIN 122
Familial occurrence of Turner syndrome: casual event or increased risk? 122
Pulmonary artery systolic pressure as estimated by TTE in a group of HHT patients. 122
Diagnosis of vascular Ehlers-Danlos syndrome in Italy: Clinical findings and novel COL3A1 mutations 122
The angiotensin-converting enzyme insertion/deletion polymorphysm modifies the clinical outcome in patients with Pompe disease. 121
Meiotic origin of trisomy in neoplasms: evidence in a case of erythroleukemia. 120
Deficiency 10p. report of a case and exclusion mapping of the Hexokinase 1 locus to band 10p11.2 120
LOPED study: Looking for an early diagnosis in a late-onset Pompe disease high-risk population 120
Psychomotor development in cri du chat syndrome: Comparison in two Italian cohorts with different rehabilitation methods 120
Functional analysis of a novel ENG variant in a patient with hereditary hemorrhagic telangiectasia (HHT) identifies a new Sp1 binding-site 119
Changes in skeletal muscle qualities during enzyme replacement therapy in late-onset type II glycogenosis: temporal and spatial pattern of mass vs. strength response. 118
Breast cancer and genetics 118
Endoscopic evaluation of gastrointestinal tract in patients with hereditary hemorrhagic telangiectasia and correlation with their genotypes. 118
Genotype-phenotype correlation in Pompe disease, a step forward. 118
Does growth hormone treatment increase chromosomal abnormalities? 117
Correlation of severity of epistaxis with nasal telangiectasias in hereditary hemorrhagic telangiectasia (HHT) patients. 117
Erythroleukaemia with tetrasomy 21 in a child without Down phenotype: evidence for a meiotic origin. 116
Radiosensitivity in lymphoblastoid cell lines derived from Shwachman-Diamond syndrome patients 116
Antenatal sex detrmination 116
Natural history and outcome of hepatic ascular malformations in a large cohort of patients with hereditary hemorrhagic teleangiectasia 115
Types, stability, and phenotypic consequences of chromosome rearrangements leading to interstitial telomeric sequences. 115
Hereditary Hemorrhagic Telangiectasia: first demonstration of a branch point causative variant. 115
Experience of an Italian reference laboratory for a rare disease: Hereditary Haemorragic Telangiectasia 115
Deletion of PAX9 and oligodontia: a third family and review of the literature. 114
Ptosis as a feature of late-onset glycogenosis type II. 114
Cutaneous metaplastic synovial cyst in Ehlers-Danlos syndrome: report of a second case. 114
JAK2 V617F mutation is a rare event in juvenile myelomonocytic leukemia 113
Does growth hormone treatment increase chromosomal abnormalities 112
Liver involvement in hereditary haemorrhagic telangiectasia or Rendu-Osler-Weber disease 112
Specific polymorphisms of cytokine genes are associated with different risks to develop single-system or multi-system childhood Langerhans cell histiocytosis 111
Totale 13.300
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Categoria #
all - tutte 112.166
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 112.166
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/20221.057 0 0 0 0 16 20 19 75 48 32 176 671
2022/20233.893 382 290 68 317 435 401 7 203 1.615 44 94 37
2023/20241.216 156 201 31 96 116 331 24 119 12 31 48 51
2024/20253.284 77 281 89 124 73 141 128 224 826 96 380 845
2025/20267.953 619 823 858 814 1.015 336 1.469 364 696 552 250 157
2026/20272.418 157 405 505 961 390 0 0 0 0 0 0 0
Totale 26.778