CRIS Current Research Information System

GRAZIANO, CLAUDIO
 Distribuzione geografica
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Continente #
NA - Nord America 1.576
EU - Europa 993
AS - Asia 572
AF - Africa 74
SA - Sud America 16
OC - Oceania 2
Continente sconosciuto - Info sul continente non disponibili 1
Totale 3.234
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Nazione #
US - Stati Uniti d'America 1.569
GB - Regno Unito 257
IT - Italia 212
CN - Cina 205
VN - Vietnam 141
SE - Svezia 138
SG - Singapore 138
DE - Germania 126
IN - India 51
IE - Irlanda 49
RU - Federazione Russa 47
FR - Francia 41
UA - Ucraina 36
TG - Togo 28
BG - Bulgaria 21
ZA - Sudafrica 19
CI - Costa d'Avorio 16
EE - Estonia 15
BR - Brasile 14
JO - Giordania 12
CH - Svizzera 11
FI - Finlandia 11
ID - Indonesia 8
BE - Belgio 7
CA - Canada 7
NG - Nigeria 6
NL - Olanda 4
RO - Romania 4
IR - Iran 3
AL - Albania 2
CL - Cile 2
CZ - Repubblica Ceca 2
GR - Grecia 2
HK - Hong Kong 2
IL - Israele 2
MA - Marocco 2
MY - Malesia 2
PH - Filippine 2
PL - Polonia 2
SC - Seychelles 2
AE - Emirati Arabi Uniti 1
AT - Austria 1
AU - Australia 1
BD - Bangladesh 1
DK - Danimarca 1
EG - Egitto 1
ES - Italia 1
EU - Europa 1
HR - Croazia 1
KR - Corea 1
NZ - Nuova Zelanda 1
PT - Portogallo 1
SA - Arabia Saudita 1
SI - Slovenia 1
TR - Turchia 1
UZ - Uzbekistan 1
Totale 3.234
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Città #
Southend 227
Fairfield 205
Chandler 141
Singapore 128
Woodbridge 121
Ashburn 97
Seattle 95
Wilmington 82
Houston 76
Cambridge 75
Dong Ket 73
Ann Arbor 60
Princeton 60
Santa Clara 56
Dublin 49
Boardman 35
Bologna 31
Nanjing 29
Lomé 28
Westminster 24
Turin 23
Jacksonville 22
Sofia 21
Berlin 19
Abidjan 16
Dearborn 16
Florence 16
Jinan 16
Padova 16
New York 14
Saint Petersburg 14
San Diego 14
Amman 12
Milan 12
Changsha 10
Hebei 10
Helsinki 10
Redmond 9
Jakarta 8
Los Angeles 8
Nanchang 8
Shenyang 8
Zhengzhou 8
Beijing 7
Bern 7
Brussels 7
Guangzhou 7
Mülheim 7
Redwood City 7
Boydton 6
Des Moines 6
Frankfurt Am Main 6
Tianjin 6
Abeokuta 5
Phoenix 5
São Paulo 5
Bremen 4
Haikou 4
London 4
Medford 4
Shenzhen 4
Taiyuan 4
Toronto 4
Wuhan 4
Brescia 3
Hangzhou 3
Jiaxing 3
Kuban 3
Loreto Aprutino 3
Mountain View 3
Parma 3
San Venanzo 3
Shanghai 3
Shijiazhuang 3
Taizhou 3
Cesena 2
Edinburgh 2
Falls Church 2
Ferrara 2
Fort Worth 2
Frankfurt am Main 2
Fuzhou 2
Granarolo dell'Emilia e Viadagola 2
Harbin 2
Hong Kong 2
Inverigo 2
Kilburn 2
Kingston upon Thames 2
Kuala Lumpur 2
Kunming 2
Lanzhou 2
Mahé 2
Napoli 2
Ningbo 2
Norwalk 2
Olalla 2
Qingdao 2
Rabat 2
Ravenna 2
Rome 2
Totale 2.198
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Nome #
Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation. 195
9q31.1q31.3 deletion in two patients with similar clinical features: a newly recognized microdeletion syndrome? 174
Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders 173
Genetics of human enteric neuropathies. 162
A de novo PUF60 mutation in a child with a syndromic form of coloboma and persistent fetal vasculature 148
Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients. 146
FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype. 145
Novel Mutations in Neurogenic Chronic Intestinal Pseudo-Obstruction Identified by High-Throughput Sequencing 143
Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration 136
Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts 130
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study 129
Mutations in RAD21 Disrupt Regulation of APOB in Patients With Chronic Intestinal Pseudo-Obstruction. 128
An additional family with association of hereditary thrombocytosis and transverse limb deficiency: confirmation of a rare clinical spectrum. 127
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes 127
Aortic arch geometry predicts outcome in patients with Loeys–Dietz syndrome independent of the causative gene 126
Two novel PRNP truncating mutations broaden the spectrum of prion amyloidosis 125
New patients with Temple syndrome caused by 14q32 deletion: Genotype-phenotype correlations and risk of thyroid cancer 116
Two distinct thyroid tumours in a Cowden Syndrome patient carrying both a 10q23 and a mitochondrial DNA germline deletion 95
Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations 95
Fanconi-Bickel syndrome: a mild form associated with GLUT2 mutation 94
Su2019 Functional Characterization of a Novel RAD21 Mutation in Familial Chronic Intestinal Pseudo-Obstruction (CIPO) 88
Test genetici e consenso informato 86
Kidney transplant in fabry disease: A revision of the literature 85
Functional Analysis of Missense Mutations of OAT, Causing Gyrate Atrophy of Choroid and Retina. 84
A regional audit system for stillbirth: A way to better understand the phenomenon 68
Preferences of Italian patients for return of secondary findings from clinical genome/exome sequencing 58
Lights and shadows in the genetics of syndromic and non-syndromic hearing loss in the Italian population 52
HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations 44
Increased intracranial arterial tortuosity is associated with worse cardiovascular outcome in patients with Loeys-Dietz syndrome 27
High prevalence of arterial dissection in patients with Loeys-Dietz syndrome and cerebral aneurysm 25
MAYO AND PRO-PKD SCORE CONCORDANCE FOR PROGRESSION OF RENAL FALIURE EVALUATION IN ADPKD PATIENTS 23
Clinical interpretation of aCGH results in patients with neurodevelopmental disorders by geneticists: impact on diagnostic yield 14
Totale 3.368
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Categoria #
all - tutte 8.726
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 8.726
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020624 0 0 0 0 82 86 105 122 111 56 15 47
2020/2021513 74 53 18 5 12 18 9 21 62 20 21 200
2021/2022595 40 18 34 24 46 35 10 40 26 45 186 91
2022/2023664 73 76 39 68 47 62 26 33 119 14 84 23
2023/2024168 14 32 13 11 15 45 8 8 3 7 4 8
2024/2025393 32 125 86 59 91 0 0 0 0 0 0 0
Totale 3.368