ArTS Archivio della ricerca di Trieste

BOTTEGA, ROBERTA
 Distribuzione geografica
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Continente #
NA - Nord America 2.089
EU - Europa 1.678
AS - Asia 395
SA - Sud America 16
AF - Africa 3
OC - Oceania 3
Continente sconosciuto - Info sul continente non disponibili 2
Totale 4.186
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Nazione #
US - Stati Uniti d'America 2.081
PL - Polonia 913
IT - Italia 213
SE - Svezia 204
CN - Cina 174
UA - Ucraina 140
HK - Hong Kong 82
FI - Finlandia 61
SG - Singapore 57
TR - Turchia 44
IE - Irlanda 37
BG - Bulgaria 31
BE - Belgio 22
DE - Germania 21
EC - Ecuador 13
VN - Vietnam 12
IN - India 11
GB - Regno Unito 10
CA - Canada 5
CZ - Repubblica Ceca 5
FR - Francia 5
KR - Corea 5
NL - Olanda 5
AT - Austria 3
ES - Italia 3
JP - Giappone 3
MX - Messico 3
SN - Senegal 3
A2 - ???statistics.table.value.countryCode.A2??? 2
AU - Australia 2
CH - Svizzera 2
IL - Israele 2
IR - Iran 2
AL - Albania 1
AR - Argentina 1
BR - Brasile 1
CL - Cile 1
HU - Ungheria 1
LA - Repubblica Popolare Democratica del Laos 1
NZ - Nuova Zelanda 1
RU - Federazione Russa 1
SA - Arabia Saudita 1
TW - Taiwan 1
Totale 4.186
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Città #
Warsaw 912
Chandler 252
Woodbridge 223
Ann Arbor 213
Fairfield 206
Houston 164
Jacksonville 136
Wilmington 122
Ashburn 113
Seattle 89
Hong Kong 81
Dearborn 75
Princeton 67
Cambridge 60
Beijing 50
Trieste 50
Izmir 43
Dublin 34
Singapore 34
Sofia 31
Menlo Park 22
Boardman 21
Brussels 20
Falls Church 15
Helsinki 14
San Diego 14
Hefei 13
Quito 13
Jinan 11
Dong Ket 10
Bologna 9
Des Moines 9
Düsseldorf 9
Shanghai 9
Redmond 8
Mestre 7
Nanjing 7
Shenyang 7
Changsha 6
Kunming 6
Naples 6
Napoli 6
Pune 6
Brno 5
Buffalo 5
Fuzhou 5
Kurukshetra 5
Milan 4
Nanchang 4
Ravenna 4
Sacile 4
Seoul 4
Taiyuan 4
Taizhou 4
Verona 4
Chicago 3
Clifton 3
Dakar 3
Fremont 3
Guangzhou 3
Lissone 3
Phoenix 3
Rome 3
Vienna 3
Washington 3
Atlanta 2
Baotou 2
Caserta 2
Chions 2
Contursi 2
Dallas 2
Edinburgh 2
Koog aan de Zaan 2
Monrovia 2
Montreal 2
Nocera Umbra 2
Norwalk 2
Portici 2
Pozzuoli 2
Providence 2
Tehran 2
Tel Aviv 2
Triggiano 2
Waanrode 2
Yicheng 2
Zhengzhou 2
Amsterdam 1
Ancona 1
Auckland 1
Bari 1
Bern 1
Brampton 1
Bremen 1
Brook Park 1
Budapest 1
Central 1
Chaoyang 1
Chengdu 1
Clearwater 1
Columbus 1
Totale 3.341
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Nome #
ACTN1-related thrombocytopenia: Identification of novel families for phenotypic characterization 357
Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia 340
Evaluation of energy metabolism and calcium homeostasis in cells affected by Shwachman-Diamond syndrome 317
FANCA nel mitocondrio: qualche ruolo diretto? 302
Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia 290
Clinical and genetic aspects Bernard-Soulier syndrome: searching for genotype/phenotype correlations. 195
ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia 154
null 127
Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology. 125
ACTN1 : identification of novel mutations in a cohort of Italian IMTP patients 124
Gray platelet syndrome: Novel mutations of the NBEAL2 gene 123
Clinical aspects of Fanconi anemia individuals with the same mutation of FANCF identified by next generation sequencing 120
null 114
Mutations of RUNX1 in families with inherited thrombocytopenia 107
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) 105
Fanconi anemia patients are more susceptible to SV40 infection 96
Molecular genetic testing of Fanconi anemia: experience of the Italian Research Group on Fanconi Anemia 96
Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and α‐granule deficiency 94
Stable expression of mutant FANCA: is there any correlation with mild Fanconi anemia clinical? 92
Identification of previously undescribed NBEAL2 gene mutations in a novel case of gray platelet syndrome 85
Molecular Genetic Testing of Fanconi Anemia: Experience of the Italian Research Group on Fanconi Anemia. 81
Mitochondrial defect in Warsaw syndrome cells genomic integrity and mitochondrial metabolism defects in Warsaw syndrome cells: A comparison with Fanconi anemia 78
Mutazioni di ACTN1 in pazienti italiani 76
null 74
Combining next generation sequencing with clinical studies to unravel novel inherited thrombocytopenias affecting half of the patients / identificazione di nuovi geni coinvolti nell'insorgenza di piastrinopenie ereditarie tramite tecnologie di sequenziamento di ultima generazione 74
null 70
New pharmacological targets in Fanconi anemia / Nuovi bersagli farmacologici nell'anemia di Fanconi 64
Gray Platelet Syndrome: association of NBEAL2 mutations with thrombocytopenia and absence of alpha-granules in platelets 63
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). 59
Functional analysis of the third identified SLC25A19 mutation causative for the thiamine metabolism dysfunction syndrome 4 53
GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme 53
Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis 53
Dysregulation of oncogenic factors by GFI1B p32: investigation of a novel GFI1B germline mutation 52
ETV6-related thrombocytopenia: dominant negative effect of mutations as common pathogenic mechanism 50
Fanconi anemia patients are more susceptible to infection with tumor virus SV40. 39
Two further patients with Warsaw breakage syndrome. Is a mild phenotype possible? 36
Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and α-granule deficiency 35
MYH9-related disease: five novel mutations expanding the spectrum of causative mutations and confirming genotype/phenotype correlations 13
A novel mutation in MECOM affects MPL regulation in vitro and results in thrombocytopenia and bone marrow failure 6
A self-repair history: compensatory effect of a de novo variant on the FANCA c.2778+83C>G splicing mutation 5
Totale 4.397
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Categoria #
all - tutte 11.311
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 11.311
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020827 0 48 44 122 72 127 108 95 65 51 56 39
2020/2021571 86 37 40 73 32 47 36 44 52 67 13 44
2021/2022430 14 32 18 14 35 23 16 11 56 39 23 149
2022/2023708 55 98 57 125 39 122 0 66 97 4 27 18
2023/2024335 21 18 22 14 25 48 47 71 6 3 36 24
2024/202534 33 1 0 0 0 0 0 0 0 0 0 0
Totale 4.397