ArTS Archivio della ricerca di Trieste

DE ROCCO, DANIELA
 Distribuzione geografica
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Continente #
NA - Nord America 3.843
EU - Europa 2.398
AS - Asia 416
SA - Sud America 6
OC - Oceania 4
AF - Africa 3
Continente sconosciuto - Info sul continente non disponibili 3
Totale 6.673
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Nazione #
US - Stati Uniti d'America 3.837
PL - Polonia 1.275
SE - Svezia 311
IT - Italia 257
UA - Ucraina 236
CN - Cina 218
FI - Finlandia 90
TR - Turchia 85
HK - Hong Kong 79
IE - Irlanda 49
BG - Bulgaria 47
GB - Regno Unito 33
DE - Germania 28
BE - Belgio 27
NL - Olanda 14
VN - Vietnam 13
FR - Francia 12
CH - Svizzera 10
IN - India 9
CA - Canada 5
ES - Italia 5
BR - Brasile 4
AU - Australia 3
KR - Corea 3
A2 - ???statistics.table.value.countryCode.A2??? 2
CL - Cile 2
IL - Israele 2
JP - Giappone 2
SG - Singapore 2
AL - Albania 1
AT - Austria 1
DK - Danimarca 1
EG - Egitto 1
EU - Europa 1
IR - Iran 1
MA - Marocco 1
MX - Messico 1
NZ - Nuova Zelanda 1
PT - Portogallo 1
SA - Arabia Saudita 1
SN - Senegal 1
TW - Taiwan 1
Totale 6.673
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Città #
Warsaw 1.274
Woodbridge 562
Fairfield 486
Ann Arbor 391
Houston 390
Chandler 321
Ashburn 245
Jacksonville 229
Wilmington 205
Seattle 185
Cambridge 127
Dearborn 122
Princeton 92
Izmir 83
Hong Kong 78
Trieste 61
Beijing 58
Dublin 46
Sofia 46
Boardman 40
San Diego 25
Brussels 20
Hefei 18
Chicago 17
Nanjing 15
Kunming 14
Dong Ket 12
Helsinki 12
Shanghai 12
Des Moines 10
Jinan 10
Bern 9
Bologna 9
Buffalo 9
Norwalk 8
Pune 8
Mestre 7
Tappahannock 7
Waanrode 7
Changsha 6
Fuzhou 6
Hangzhou 6
Nanchang 6
Napoli 6
Falls Church 5
Milan 5
Düsseldorf 4
Ravenna 4
Redwood City 4
Sacile 4
Shenyang 4
São Paulo 4
Taizhou 4
Washington 4
Wuhan 4
Amsterdam 3
Bremen 3
Dongguan 3
Edinburgh 3
Los Angeles 3
Perugia 3
Phoenix 3
Redmond 3
Taiyuan 3
Verona 3
Zhengzhou 3
Andover 2
Auburn Hills 2
Baotou 2
Barletta 2
Broni 2
Chions 2
Dallas 2
Fremont 2
Jiaxing 2
Miami 2
Paris 2
Providence 2
San Francisco 2
Seoul 2
Xian 2
Apo 1
Atlanta 1
Auckland 1
Azor 1
Azzano San Paolo 1
Bari 1
Berlin 1
Birmingham 1
Brampton 1
Cagliari 1
Cairo 1
Cascina 1
Central District 1
Centro 1
Chaoyang 1
Chengdu 1
Dakar 1
Downsview 1
Easton 1
Totale 5.428
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Nome #
Identification of point mutations and large intragenic deletions in Fanconi anemia using next-generation sequencing technology 379
Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia 339
Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia 324
Thrombopoietin mutation in congenital amegakaryocytic thrombocytopenia treatable with romiplostim 305
FANCA nel mitocondrio: qualche ruolo diretto? 299
R705H mutation of MYH9 is associated with MYH9-related disease and not only with non-syndromic deafness DFNA17 292
Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia 289
Clinical and genetic aspects Bernard-Soulier syndrome: searching for genotype/phenotype correlations. 193
Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families 193
null 173
Heavy chain myosin 9-related disease (MYH9-RD): Neutrophilinclusions of myosin-9 as a pathognomonic sign of the disorder 172
MYH9-Related Disease: A Novel Prognostic Model to Predict the Clinical Evolution of the Disease Based on Genotype-Phenotype Correlations. 161
MYH9 related disease: four novel mutations of the tail domain of myosin-9 correlating with a mild clinical phenotype 150
A new form of inherited thrombocytopenia due to monoallelic loss of function mutation in the thrombopoietin gene 143
A G to C transversion at the last nucleotide of exon 25 of the MYH9 gene results in a missense mutation rather than in a splicing defect. 138
null 135
null 133
Spectrum of the mutations in bernard-soulier syndrome. 131
Megakaryocyte and platelet abnormalities in a patient with a W33C mutation in the conserved SH3-like domain of myosin heavy chain IIA 129
null 127
Absence of CYCS mutations in a large Italian cohort of patients with inherited thrombocytopenias of unknown origin. 125
Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology. 124
Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia 122
Role of the mutations identified in the 5’UTR of ANKRD26 responsible for an inherited form of thrombocytopenia 119
MYH9 -Related Thrombocytopenia: Four Novel Variants Affecting the Tail Domain of the Non-Muscle Myosin Heavy Chain IIA Associated with a Mild Clinical Evolution of the Disorder 117
null 114
Mutations in the 5′ UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2 111
Molecular diagnosis of thrombocytopenia-absent radius syndrome using next-generation sequencing 109
Inherited thrombocytopenia frequently diagnosed in Italy 107
Mutations of RUNX1 in families with inherited thrombocytopenia 105
null 104
Clinical and Laboratory Features of of 103 Patients From 42 Italian Families with Inherited Thrimbocytopenia Derived from the Monoallelic Ala156Val Mutation of GPIb Alpha (Bolzano Mutation) 103
MYH9 gene mutations associated with bleeding 100
Fanconi anemia patients are more susceptible to SV40 infection 93
Molecular genetic testing of Fanconi anemia: experience of the Italian Research Group on Fanconi Anemia 92
Identification of the first duplication in MYH9-related disease: A hot spot for hot unequal crossing-over within exon 24 of the MYH9 gene 89
MYH9-related disease - Report on 5 German families and description of a novel mutation. Ann Hematol 89:1057-1059, 2010 82
Somatic, hematologic phenotype, long-term outcome, and effect of hematopoietic stem cell transplantation. An analysis of 97 Fanconi anemia patients from the Italian national database on behalf of the Marrow Failure Study Group of the AIEOP (Italian Association of Pediatric Hematology–Oncology) 81
null 74
Mutazioni di ACTN1 in pazienti italiani 74
null 70
Renin angiotensin system, COVID-19 and male fertility: Any risk for conceiving? 65
New pharmacological targets in Fanconi anemia / Nuovi bersagli farmacologici nell'anemia di Fanconi 63
MYH9 related disease: a novel missense Ala95Asp mutation of the MYH9 gene. 61
Gray Platelet Syndrome: association of NBEAL2 mutations with thrombocytopenia and absence of alpha-granules in platelets 61
Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIb{alpha} (Bolzano mutation). 58
null 57
Apparent genotype–phenotype mismatch in a patient with MYH9-related disease: When the exception proves the rule 39
Fanconi anemia patients are more susceptible to infection with tumor virus SV40. 37
ANKRD26-related thrombocytopenia and myeloid malignancies 35
Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and α-granule deficiency 32
International collaboration as a tool for diagnosis of patients with inherited thrombocytopenia in the setting of a developing country 31
Mutations of cytochrome c identified in patients with thrombocytopenia THC4 affect both apoptosis and cellular bioenergetics. 22
Unusual splice site mutations disrupt FANCA exon 8 definition. 13
MYH9-related disease: five novel mutations expanding the spectrum of causative mutations and confirming genotype/phenotype correlations 11
Totale 6.905
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Categoria #
all - tutte 14.586
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 14.586
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/2019530 0 0 0 0 0 0 0 0 0 110 278 142
2019/20201.637 90 72 79 251 130 264 198 166 145 80 99 63
2020/20211.035 91 72 94 134 118 78 70 74 75 108 43 78
2021/2022538 24 36 35 22 30 27 20 14 61 57 31 181
2022/2023861 71 104 60 158 66 154 2 77 113 7 37 12
2023/2024323 34 43 18 22 31 56 46 66 4 3 0 0
Totale 6.905