IRIS
OLIVIERI, CARLA
 Distribuzione geografica
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Continente #
NA - Nord America 1.753
EU - Europa 1.418
AS - Asia 878
OC - Oceania 7
AF - Africa 3
Continente sconosciuto - Info sul continente non disponibili 3
SA - Sud America 2
Totale 4.064
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Nazione #
US - Stati Uniti d'America 1.729
CN - Cina 818
IE - Irlanda 555
UA - Ucraina 233
FI - Finlandia 172
IT - Italia 147
DE - Germania 115
SE - Svezia 65
GB - Regno Unito 56
FR - Francia 27
SG - Singapore 25
CA - Canada 19
BE - Belgio 16
JP - Giappone 10
NL - Olanda 10
IN - India 9
AU - Australia 5
MY - Malesia 5
IR - Iran 4
RU - Federazione Russa 4
SM - San Marino 4
BD - Bangladesh 3
CH - Svizzera 3
EU - Europa 3
MU - Mauritius 3
MX - Messico 3
CZ - Repubblica Ceca 2
MK - Macedonia 2
NZ - Nuova Zelanda 2
PA - Panama 2
SA - Arabia Saudita 2
AL - Albania 1
AT - Austria 1
BR - Brasile 1
CL - Cile 1
GR - Grecia 1
HU - Ungheria 1
IL - Israele 1
LT - Lituania 1
LU - Lussemburgo 1
RO - Romania 1
TH - Thailandia 1
Totale 4.064
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Città #
Dublin 550
Chandler 441
Jacksonville 262
Nanjing 224
Ashburn 117
Beijing 107
Nanchang 100
Princeton 80
Lawrence 76
Wilmington 73
Medford 72
Shenyang 66
Ann Arbor 64
Changsha 64
Helsinki 58
Hebei 49
Shanghai 49
Tianjin 44
Boardman 36
Jiaxing 36
Pavia 30
Hangzhou 29
Houston 28
Woodbridge 28
Milan 25
New York 25
Seattle 19
Toronto 17
Verona 17
Brussels 16
Singapore 16
Tokyo 10
Chicago 8
Fairfield 8
Norwalk 8
Des Moines 7
Kunming 7
Los Angeles 7
Auburn Hills 6
Haikou 6
San Francisco 6
Taizhou 6
Zwickau 6
Andover 5
Goito 5
Maastricht 5
Brescia 4
Falls Church 4
Ningbo 4
Poggio Chiesanuova 4
Pune 4
Caccuri 3
Castelmassa 3
Cuneo 3
Dhaka 3
Jinan 3
Melbourne 3
Redwood City 3
Tappahannock 3
Udine 3
Vanzago 3
Washington 3
Alachua 2
Amsterdam 2
Borås 2
Brno 2
Canberra 2
Dallas 2
Falkenstein 2
Fremont 2
Gansevoort 2
Guangzhou 2
Henderson 2
London 2
Menlo Park 2
Mérida 2
Noale 2
Panama City 2
Riyadh 2
Rome 2
Sacramento 2
Turi 2
Utrecht 2
Varese 2
Zanjan 2
Zurich 2
Agrate Brianza 1
Auckland 1
Avellino 1
Baja 1
Bangalore 1
Bangkok 1
Berlin 1
Buffalo 1
Cambridge 1
Cedar Knolls 1
Changchun 1
Chenzhou 1
Chipping Norton 1
Clearwater 1
Totale 3.033
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Nome #
Isochromosome 7q10 in Shwachman Syndrome without MDS/AML and role of chromosome 7 anomalies in myeloproliferative disorders. 86
Bioinformatic Analysis of Pathogenic Missense Mutationsof Activin Receptor Like Kinase 1 Ectodomain 84
ACVRL1 (activin A receptor type II-like 1) 81
Meiotic origin of trisomy in neoplasms: evidence in a case of erythroleukemia. 79
Erythroleukaemia with tetrasomy 21 in a child without Down phenotype: evidence for a meiotic origin. 77
Early onset of gastric carcinoma and constitutional deletion of 18p. 77
Interobserver agreement in diagnosing liver involvement in hereditary hemorrhagic telangiectasia by Doppler ultrasound. 76
Analisi di linkage in 4 famiglie con Rendu Weber Osler. 76
Can GH induce chromosome breaks or microsatellite instability in GH-deficient children? 75
Activin Receptor-Like Kinase 1: a novel anti-angiogenesis target from TGF-β family. 75
Isochromosome (7) (q10) in Schwachman syndrome without MDS/AML and role of chromosome 7 anomalies in myeloproliferative disorders. 74
Increase of circulating endothelial cells in patients with Hereditary Hemorrhagic Telangiectasia. 72
FAMILIAL PARTIAL MONOSOMY 7 AND MYELODYSPLASIA: DIFFERENT PARENTAL ORIGIN OF THE 7 INVOLVED SUGGESTS THE ACTION OF A MUTATOR GENE 72
Immunohistochemical analysis of a merkeloma observed in a patient affected byhereditary haemorrhagic telangiectasia. 68
Analysis of ENG and ACVRL1 genes in 137 HHT Italian families identifies 76 different mutations (24 novel). Comparison with other European studies. 67
Concurrent cytogenetic and molecular investigations in uterine and ovarian neoplasms 66
Meiotic origin of trisomy in neoplasms: evidence in a case of erythroleukaemia 65
Isochromosome (7)(q10) in Shwachman Syndrome Without MDS/AML and Role of Chromosome 7 Anomalies in Myeloproliferative Disorders 65
Rendu-Osler-Weber patients have an increasd frequency of mature endothelial cells in peripheral blood 64
STRUCTURAL MODELLING OF ALK1 ECTO-DOMAIN 63
Chromosome instability in cultured lymphocytes of patients with ovarian or uterine cancer. 62
Familial partial monosomy 7 suggests action of a mutator gene. 61
Liver involvement in hereditary haemorrhagic telangiectasia or Rendu-Osler-Weber disease 61
Modifier genes in HHT: preliminary results of MGP sequencing. 61
Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome 60
Hereditary Hemorrhagic Telangiectasia: Breakpoint Characterization of a Novel Large Deletion in ACVRL1 Suggests the Causing Mechanism. 59
Vascular abnormalities in the fingers of patients affected with hereditary hemorrhagic teleangiectasia (HHT) as accessed by color Doppler sonography. 59
Erratum: Epidemiology and clinical aspects of Werner's syndrome in North Sardinia: description of a cluster. (vol 17, pg 213, 2007) 57
Genotype-phenotype correlations in hereditary hemorrhagictelangiectasia: data from the French-Italian HHT network. 57
Bioinformatics as a Starting Point for the Analysis of ALK1 Missense Mutations 57
Different forms of pulmonary hypertension in a family with clinical and genetic evidence for hereditary hemorrhagic teleangectasia type 2 57
Identification of 13 new mutations in the ACVRL1 gene in a group of 52 unselected Italian patients affected by hereditary haemorrhagic telangiectasia 56
Natural history and outcome of hepatic ascular malformations in a large cohort of patients with hereditary hemorrhagic teleangiectasia 56
Interstitial deletion of chromsome 9, int del(9)(9q22.31-q31.2), including the genes causing multiple basal cell nevus syndrome and Robinow/brachydactyly 1 syndrome. 55
High prevalence of hepatic focal nodular hyperplasia in subjects with hereditary hemorrhagic telangiectasia 54
Quiz page. Arterial-venous fistulas from kidney biopsies 53
Endoscopic evaluation of gastrointestinal tract in patients with hereditary hemorrhagic telangiectasia and correlation with their genotypes. 53
Circulating microRNAs In Hereditary Hemorrhagic Telangiectasia: Preliminary Results Identify Significant Differences Among Patients 53
Functional analysis of a novel ENG variant in a patient with hereditary hemorrhagic telangiectasia (HHT) identifies a new Sp1 binding-site 53
Contrast echocardiography for pulmonary arteriovenous malformatins screening: does any bubble matter? 51
Efficacy of thalidomide in the treatment of severe recurrent epistaxis in hereditary hemorrhagic teleangiectasia: a comparison between HHT1 and 2. 51
HHT diagnosis by Mid-infrared spectroscopy and artificial neural network analysis 50
Hereditary haemorrhagic telangiectasia in North African and sub-Saharan patients. 50
Pulmonary artery systolic pressure as estimated by TTE in a group of HHT patients. 49
Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patients. 48
Cytogenetic and molecular data in familial myelodysplastic syndrome associated with monosomy 7. 48
Canzonieri Cecilia; Ornati Federica; Matti Elina; Chu Francesco; Manfredi Guido; Olivieri Carla; Buscarini Elisabetta; Pagella Fabio; Cesare Danesino. 47
Enhanced stem cells characteristic of fibroblastic mesenchymal cells from HHT patients 47
“The Italian Job”: our experience in HHT management 47
Correlation of severity of epistaxis with nasal telangiectasias in hereditary hemorrhagic telangiectasia (HHT) patients. 47
Treatment of epistaxis in hereditary hemorrhagic telangiectasia patients by argon plasma coagulation with local anesthesia 47
Genetic characteristics of the HHT Italian population: the experience of the three Italian Reference Centres 46
Doppler ultrasonographic grading of hepatic vascular malformations in hereditary hemorrhagic telangiectasia - results of extensive screening. 46
Bone marrow failure may be caused by chromosome anomalies exerting effects on RUNX1T1 gene 46
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 46
Efficacy and safety of thalidomide for the treatment of severe recurrent epistaxis in hereditary haemorrhagic telangiectasia: results of a non-randomised, single-centre, phase 2 study 45
Argon plasma coagulation is an effective treatment for hereditary hemorrhagic telangiectasia patients with severe nosebleeds. 45
FID Score: an effective tool in Hereditary Haemorrhagic Telangiectasia - related epistaxis 45
Linkage analysis for prenatal diagnosis in a familial case of Stickler syndrome 44
Estimated Pulmonary Artery Systolic Pressure In A Group Of 105 HHT Patients Discloses Differences In Patients Carrying Acvrl1 or Eng Mutations. 43
Experience of an Italian reference laboratory for a rare disease: Hereditary Haemorragic Telangiectasia 43
Genetic heterogeneity in autosomal dominant otosclerosis: Exclusion of linkage to four known loci in an Italian family 42
Epidemiology and clinical aspects of Werner'ssyndrome in North Sardinia: description of a cluster. 41
Fluorescein-guided intraoperative endoscopy in patients with hereditary hemorrhagic telangiectasia: first impressions 41
Attraversare i confini: le mutazioni genetiche. In: Disegnare, Attraversare, Cancellare i Confini 39
Hereditary Hemorrhagic Telangiectasia: first demonstration of a branch point causative variant. 39
Hereditary hemorrhagic telangiectasia: First demonstration of a founder effect in Italy; the ACVRL1 c.289_294del variant originated in the country of Bergamo 200 years ago 39
THALIDOMIDE FOR HEREDITARY HEMORRHAGIC TELANGIECTASIA: EFFICACY AND SAFETY OF LONG-TERM TREATMENT 38
Modelling of ALK1 ectodomain and ALK1-ActRIIA-BMP9 receptor complex: hints from Type 2 Hereditary Haemorrhagic Telangiectasia 37
Echocardiographic screeningdiscloses increased values of pulmonary artery systolic pressure in 9 of 68unselected patients affected with hereditary hemorrhagic telangiectasia. 36
Hereditary Haemorrhagic Telangiectasia: evidence of a common ancestor in 19 families from Northern Italy. 36
Biologia e Genetica 34
Peculiar Characteristics of Human Mesenchymal Stem Cell Clones Suitable as Tissue Engineering Models 32
Natural history and outcome of hepatic vascular malformations in a large cohort of patients with hereditary hemorrhagic teleangiectasia. 32
Familial partial monosomy 7 and myelodysplasia : different parental origin of the monosomy 7 suggests action of a mutator gene 30
Hereditary Haemorrhagic Telangiectasia: evidence of a common ancestor in 19 families from Northern Italy 30
Endoglin and Systemic Sclerosis: A PRISMA-driven systematic review 22
Hereditary Hemorrhagic Telangiectasia in Pediatric Age: Focus on Genetics and Diagnosis 9
Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes—ENG and ACVRL1 3
Totale 4.157
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Categoria #
all - tutte 15.515
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 15.515
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020911 266 358 3 40 2 41 8 42 19 76 53 3
2020/2021423 44 34 14 47 11 52 9 63 37 56 47 9
2021/2022395 5 4 7 5 7 9 10 23 18 16 65 226
2022/20231.337 125 113 16 89 135 119 11 67 609 10 32 11
2023/2024475 62 65 11 35 32 93 31 73 8 15 23 27
2024/202534 34 0 0 0 0 0 0 0 0 0 0 0
Totale 4.157