IRIS
DANESINO, CESARE
 Distribuzione geografica
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Continente #
NA - Nord America 9.732
AS - Asia 7.248
EU - Europa 6.045
SA - Sud America 801
AF - Africa 253
OC - Oceania 34
Continente sconosciuto - Info sul continente non disponibili 6
Totale 24.119
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Nazione #
US - Stati Uniti d'America 9.532
CN - Cina 3.774
SG - Singapore 1.564
IE - Irlanda 1.392
UA - Ucraina 868
HK - Hong Kong 679
FI - Finlandia 663
DE - Germania 660
RU - Federazione Russa 619
VN - Vietnam 585
BR - Brasile 581
IT - Italia 467
SE - Svezia 384
FR - Francia 355
GB - Regno Unito 344
ZA - Sudafrica 155
IN - India 140
CA - Canada 108
BD - Bangladesh 93
AR - Argentina 71
JP - Giappone 52
ES - Italia 51
NL - Olanda 51
IQ - Iraq 50
MX - Messico 50
BE - Belgio 45
EC - Ecuador 43
PL - Polonia 43
TR - Turchia 38
PK - Pakistan 36
ID - Indonesia 31
VE - Venezuela 28
AT - Austria 26
CO - Colombia 26
SA - Arabia Saudita 25
AU - Australia 24
MA - Marocco 23
PH - Filippine 23
UZ - Uzbekistan 23
CL - Cile 21
MY - Malesia 15
JO - Giordania 14
TN - Tunisia 13
LT - Lituania 12
CZ - Repubblica Ceca 11
DZ - Algeria 10
IL - Israele 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
JM - Giamaica 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
GT - Guatemala 5
OM - Oman 5
AO - Angola 4
CY - Cipro 4
GR - Grecia 4
HN - Honduras 4
KW - Kuwait 4
MU - Mauritius 4
NI - Nicaragua 4
PA - Panama 4
SM - San Marino 4
SN - Senegal 4
AM - Armenia 3
CR - Costa Rica 3
EE - Estonia 3
GE - Georgia 3
KH - Cambogia 3
LB - Libano 3
MD - Moldavia 3
SK - Slovacchia (Repubblica Slovacca) 3
UY - Uruguay 3
BH - Bahrain 2
GA - Gabon 2
GD - Grenada 2
LK - Sri Lanka 2
LU - Lussemburgo 2
LV - Lettonia 2
PT - Portogallo 2
SI - Slovenia 2
SV - El Salvador 2
AD - Andorra 1
BA - Bosnia-Erzegovina 1
Totale 24.089
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Città #
Dublin 1.390
Chandler 1.388
Jacksonville 1.025
San Jose 877
Dallas 855
Nanjing 828
Singapore 818
Ashburn 767
Hong Kong 667
Beijing 617
Boardman 410
Nanchang 337
Princeton 249
Lawrence 241
Shenyang 240
Medford 233
Changsha 231
Los Angeles 226
Wilmington 226
Hebei 222
Lauterbourg 213
Ann Arbor 202
Jiaxing 191
Ho Chi Minh City 179
New York 178
Hanoi 157
Helsinki 154
Tianjin 148
Johannesburg 142
Hangzhou 135
Munich 131
Shanghai 122
Buffalo 107
Moscow 105
Milan 103
Woodbridge 92
Redondo Beach 78
Council Bluffs 77
Turku 66
Pavia 62
São Paulo 59
Toronto 52
Tokyo 51
Verona 50
Orem 49
Houston 47
Frankfurt am Main 46
San Francisco 44
Brussels 43
Seattle 43
Santa Clara 42
Norwalk 39
Warsaw 38
London 37
Chicago 35
Atlanta 34
Falkenstein 34
Chennai 30
Montreal 30
Stockholm 28
Denver 26
Jinan 25
Mexico City 25
Brooklyn 23
Da Nang 23
Des Moines 23
Dhaka 21
Guangzhou 21
Manchester 21
Phoenix 21
The Dalles 20
Amsterdam 19
Fairfield 19
Tashkent 19
Auburn Hills 18
Kunming 18
Rio de Janeiro 18
Belo Horizonte 17
Nuremberg 17
Quito 17
Taizhou 17
Zhengzhou 17
Haiphong 16
Poplar 16
Ankara 14
Biên Hòa 14
Boston 14
New Delhi 14
Ningbo 14
Rome 14
Amman 13
Baghdad 13
Mumbai 12
Bắc Ninh 11
Guayaquil 11
Riyadh 11
Hải Dương 10
Lahore 10
Washington 10
Charlotte 9
Totale 15.991
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Nome #
Disegnare, attraversare, cancellare i confini. una prospettiva interdisciplinare 221
Advanced magnetic resonance imaging in benign hereditary chorea: study of two familial cases. 169
A Chaperone Enhances Blood α-Glucosidase Activity in Pompe Disease Patients Treated With Enzyme Replacement Therapy. 160
Bioinformatic Analysis of Pathogenic Missense Mutationsof Activin Receptor Like Kinase 1 Ectodomain 155
Adult-onset type II glycogenosis (GSDII): Clinical spectrum and enzyme replacement therapy (ERT) 147
A novel mutation and novel features in Nijmegen breakage syndrome. 146
A large-scale association study to assess the impact of known variants of the human INHA gene on premature ovarian failure. 146
Coexistence of mitochondrial DNA and beta myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure. 145
Dietary treatment in adult-onset type II glycogenosis. 144
Effect of ionizing radiation exposure on proliferation and cell cycle distribution in cells derived from shwachman-diamond syndrome affected patients 144
Abnormal cell surface antigen expression in individuals with variant CD45 splicing and histiocytosis. 142
The strange case of the lost NRAS mutation in a child with juvenile myelomonocytic leukemia. 142
Changes in nutritional status and body composition during enzyme replacementtherapy in adult-onset type II glycogenosis. 142
Analisi di linkage in 4 famiglie con Rendu Weber Osler. 139
Citochimica, autoradiografia e ultrastruttura di cellule della granulosa ovarica umana "in vitro". 138
Familial platelet disorder with propensity to acute myelogenous leukemia: Genetic heterogeneity and progression to leukemia via acquisition of clonal chromosome anomalies 137
Dietary treatment in adult-onset type II glycogenosis. 137
Enzyme replacement therapy (ERT) in adult-onset type II glycogenosis (GSDII) 134
Circulating microRNAs In Hereditary Hemorrhagic Telangiectasia: Preliminary Results Identify Significant Differences Among Patients 134
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 134
Adult onset and atypical presentation of hemophagocytic lymphohistiocytosis in siblings carrying PRF1 mutations. 132
Concurrent cytogenetic and molecular investigations in uterine and ovarian neoplasms 132
Effect of X-rays on DNA repair pathways in lymphoblastoid cell lines derived from Shwachman-Diamond syndrome patients. 132
A proportion of patients with lymphoma may harbor mutations of the perforin gene 132
Analysis of ENG and ACVRL1 genes in 137 HHT Italian families identifies 76 different mutations (24 novel). Comparison with other European studies. 130
Can GH induce chromosome breaks or microsatellite instability in GH-deficient children? 129
Immunohistochemical analysis of a merkeloma observed in a patient affected byhereditary haemorrhagic telangiectasia. 128
Six novel mutations in the PRF! gene in children with haemophagocytic lymphoistiocytosis. 127
Hemophagocytic lymphohistiocytosis due to germline mutations in SH2D1A, the X-linked lymphoproliferative disease gene 127
Blood cell mitochondrial DNA content and premature ovarian aging 127
Constitutional trisomy 8 as first mutation in multistep carcinogenesis: clinical, cytogenetic and molecular data on three cases 127
Angiotensin converting enzyme gene deletion allele is idenpendently and strongly associated with coronary atherosclerosis and myocardial infraction. 127
Isochromosome (7) (q10) in Schwachman syndrome without MDS/AML and role of chromosome 7 anomalies in myeloproliferative disorders. 126
Clinical, genetic amd immunologic analysis of a family affected by Ozena. 126
A large-scale association study to assess the impact of known variants of the human INHA gene on premature ovarian failure. 126
Familial hemophagocytic lymphohistiocytosis: how late can the onset be? 124
Bioinformatics as a Starting Point for the Analysis of ALK1 Missense Mutations 124
Different forms of pulmonary hypertension in a family with clinical and genetic evidence for hereditary hemorrhagic teleangectasia type 2 124
Early onset of gastric carcinoma and constitutional deletion of 18p. 123
A homozygous missense arginine to histidine substitution at position 482 of the beta-galactosidase in an Italian infantile GM-1 gangliosidosis patient 123
Familial myelodysplastic syndromed, monosomy 7/trisomy 8, and mutator effects. 123
Characterization of a mutation in the zona pellucida module of Endoglin that causes Hereditary Hemorrhagic Telangiectasia 123
Comment on: Corpus callosum hypoplasia and associated brain anomalies in Nijmegen breakage syndrome. 122
Interobserver agreement in diagnosing liver involvement in hereditary hemorrhagic telangiectasia by Doppler ultrasound. 122
Familial clustering of unexplained transient respiratory distress in 12 newborns from three unrelated families suggests an autosomal-recessive inheritance. 122
Isochromosome 7q10 in Shwachman Syndrome without MDS/AML and role of chromosome 7 anomalies in myeloproliferative disorders. 121
Increase of circulating endothelial cells in patients with Hereditary Hemorrhagic Telangiectasia. 121
Parental origin of the deletion del(20q) in Shwachman-Diamond patients and loss of the paternally derived allele of the imprinted L3MBTL1 gene 121
Cytogenetic abnormalities in PHA-stimulated lymphocytes from patients with Langherans cell histiocytosis 120
A liveborn 69,XXX triploid. Origin, X chromosome activity and gene dosage 120
Agenesis of corpus callosumwith mosaicism 46,XY/47,XY extra ring chromosome 120
Different outcomes of allogeneic hematopoietic stem cell transplant in a pair of twins affected by juvenile myelomonocytic leukemia. 120
Mapping of genes predisposing to familial hemophagocytic lymphohistiocytosis (FHL) using linkage analysis. 119
Rischio di ricorrenza di Sindrome di Turner. 119
Rendu-Osler-Weber patients have an increasd frequency of mature endothelial cells in peripheral blood 118
Adult-onset type II glycogenosis (GSDII): Clinical spectrum and enzyme replacement therapy (ERT) 117
Bioimpedance Phase Angle as a Prognostic Tool in Late-Onset Pompe Disease: A Single-Centre Prospective Study With a 15-year Follow-Up 117
STRUCTURAL MODELLING OF ALK1 ECTO-DOMAIN 117
Recombinant alpha-glucosidase in adult-onset type II glycogenosis: The experience with the first Italian patient, from expanded access programmes to marketing authorization 117
Argon plasma coagulation is an effective treatment for hereditary hemorrhagic telangiectasia patients with severe nosebleeds. 117
Radiosensitivity and DNA damage repair in Lymphoblastoid cell lines derived from Shwachman-Diamond syndrome patients 116
Clinical, genetic and immunologic analysis of a family affected by ozena 115
Early-onset ptosis in type II glycogenosis 115
FAMILIAL PARTIAL MONOSOMY 7 AND MYELODYSPLASIA: DIFFERENT PARENTAL ORIGIN OF THE 7 INVOLVED SUGGESTS THE ACTION OF A MUTATOR GENE 115
Psychomotor development in cri du chat syndrome: Comparison in two Italian cohorts with different rehabilitation methods 115
Pulmonary artery systolic pressure as estimated by TTE in a group of HHT patients. 115
Deficiency 10p. report of a case and exclusion mapping of the Hexokinase 1 locus to band 10p11.2 114
Diagnosis of vascular Ehlers-Danlos syndrome in Italy: Clinical findings and novel COL3A1 mutations 114
Hereditary Hemorrhagic Telangiectasia: Breakpoint Characterization of a Novel Large Deletion in ACVRL1 Suggests the Causing Mechanism. 113
Absence of acquired copy number neutral loss of heterozygosity (CN-LOH) of chromosome 7 in a series of 10 patients with Shwachman-Diamond syndrome. 113
Meiotic origin of trisomy in neoplasms: evidence in a case of erythroleukemia. 112
Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis. 112
Breast cancer and genetics 111
Benign Hereditary Chorea: From clinic to basic research... and back ( Letter ) 111
Case Report: Heterozygous Germline Variant in EIF6 Additional to Biallelic SBDS Pathogenic Variants in a Patient With Ribosomopathy Shwachman-Diamond Syndrome 110
The angiotensin-converting enzyme insertion/deletion polymorphysm modifies the clinical outcome in patients with Pompe disease. 110
Isochromosome (7)(q10) in Shwachman Syndrome Without MDS/AML and Role of Chromosome 7 Anomalies in Myeloproliferative Disorders 110
LOPED study: Looking for an early diagnosis in a late-onset Pompe disease high-risk population 110
Functional analysis of a novel ENG variant in a patient with hereditary hemorrhagic telangiectasia (HHT) identifies a new Sp1 binding-site 110
Erythroleukaemia with tetrasomy 21 in a child without Down phenotype: evidence for a meiotic origin. 109
Changes in skeletal muscle qualities during enzyme replacement therapy in late-onset type II glycogenosis: temporal and spatial pattern of mass vs. strength response. 109
Genotype-phenotype correlation in Pompe disease, a step forward. 109
Antenatal sex detrmination 109
Deletion of PAX9 and oligodontia: a third family and review of the literature. 108
Endoscopic evaluation of gastrointestinal tract in patients with hereditary hemorrhagic telangiectasia and correlation with their genotypes. 108
Radiosensitivity in lymphoblastoid cell lines derived from Shwachman-Diamond syndrome patients 108
Natural history and outcome of hepatic ascular malformations in a large cohort of patients with hereditary hemorrhagic teleangiectasia 107
Enzyme replacement therapy in adult-onset type II glycogenosis 107
Correlation of severity of epistaxis with nasal telangiectasias in hereditary hemorrhagic telangiectasia (HHT) patients. 107
Does growth hormone treatment increase chromosomal abnormalities? 106
JAK2 V617F mutation is a rare event in juvenile myelomonocytic leukemia 106
Types, stability, and phenotypic consequences of chromosome rearrangements leading to interstitial telomeric sequences. 106
Experience of an Italian reference laboratory for a rare disease: Hereditary Haemorragic Telangiectasia 106
Constitutional trisomy 8 mosaicism: mechanism of origin, phenotype variability, and risk of malignancies 105
Does growth hormone treatment increase chromosomal abnormalities 103
Cutaneous metaplastic synovial cyst in Ehlers-Danlos syndrome: report of a second case. 103
Specific polymorphisms of cytokine genes are associated with different risks to develop single-system or multi-system childhood Langerhans cell histiocytosis 101
Ptosis as a feature of late-onset glycogenosis type II. 101
Can genes influencing muscle function affect the therapeutic response to enzyme replacement therapy (ERT) in late-onset Type II Glycogenosis? 101
Contrast echocardiography for pulmonary arteriovenous malformatins screening: does any bubble matter? 101
Totale 12.259
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Categoria #
all - tutte 98.423
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 98.423
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202156 0 0 0 0 0 0 0 0 0 0 0 56
2021/20221.117 16 9 21 14 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
2025/20267.914 619 823 858 814 1.015 336 1.469 364 696 552 250 118
Totale 24.321