CRIS Current Research Information System

GRAZIANO, CLAUDIO
 Distribuzione geografica
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Continente #
NA - Nord America 2.338
AS - Asia 2.123
EU - Europa 1.451
Continente sconosciuto - Info sul continente non disponibili 161
SA - Sud America 141
AF - Africa 125
OC - Oceania 2
Totale 6.341
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Nazione #
US - Stati Uniti d'America 2.296
SG - Singapore 570
CN - Cina 554
VN - Vietnam 544
IT - Italia 367
GB - Regno Unito 278
DE - Germania 168
SE - Svezia 147
HK - Hong Kong 144
BR - Brasile 104
FR - Francia 96
NL - Olanda 80
IN - India 79
RU - Federazione Russa 71
KR - Corea 64
IE - Irlanda 51
FI - Finlandia 41
UA - Ucraina 39
BD - Bangladesh 37
JP - Giappone 37
CI - Costa d'Avorio 32
CA - Canada 28
TG - Togo 28
ZA - Sudafrica 26
BG - Bulgaria 21
SC - Seychelles 21
PH - Filippine 16
CH - Svizzera 15
EE - Estonia 15
PL - Polonia 14
AR - Argentina 13
JO - Giordania 13
ID - Indonesia 12
AT - Austria 9
IQ - Iraq 9
TH - Thailandia 9
BE - Belgio 8
EC - Ecuador 8
MX - Messico 8
NG - Nigeria 6
TR - Turchia 6
ES - Italia 5
MA - Marocco 5
RO - Romania 5
CZ - Repubblica Ceca 4
PK - Pakistan 4
TW - Taiwan 4
AE - Emirati Arabi Uniti 3
AL - Albania 3
CL - Cile 3
CO - Colombia 3
IR - Iran 3
LT - Lituania 3
PE - Perù 3
PY - Paraguay 3
SA - Arabia Saudita 3
SI - Slovenia 3
GR - Grecia 2
IL - Israele 2
MY - Malesia 2
SY - Repubblica araba siriana 2
UY - Uruguay 2
UZ - Uzbekistan 2
AM - Armenia 1
AU - Australia 1
AZ - Azerbaigian 1
BO - Bolivia 1
BW - Botswana 1
CG - Congo 1
CM - Camerun 1
CR - Costa Rica 1
CY - Cipro 1
DK - Danimarca 1
EG - Egitto 1
EU - Europa 1
GP - Guadalupe 1
HR - Croazia 1
IS - Islanda 1
JM - Giamaica 1
KE - Kenya 1
KW - Kuwait 1
LC - Santa Lucia 1
LV - Lettonia 1
NZ - Nuova Zelanda 1
PT - Portogallo 1
SK - Slovacchia (Repubblica Slovacca) 1
SN - Senegal 1
SV - El Salvador 1
TN - Tunisia 1
TT - Trinidad e Tobago 1
VE - Venezuela 1
Totale 6.181
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Città #
Singapore 408
Ashburn 235
Southend 227
Fairfield 205
Chandler 141
Hong Kong 133
Hefei 125
Ho Chi Minh City 124
San Jose 121
Woodbridge 121
Cambridge 107
Seattle 98
Hanoi 91
Wilmington 82
Santa Clara 81
Houston 76
Dong Ket 73
Council Bluffs 61
Seoul 61
Ann Arbor 60
Princeton 60
Beijing 57
Bologna 55
Dublin 51
Boardman 39
Lauterbourg 35
Helsinki 34
New York 34
Tokyo 33
Abidjan 32
Milan 32
Los Angeles 31
Dallas 30
Nanjing 29
Lomé 28
Turin 25
Jacksonville 24
Westminster 24
Sofia 21
Berlin 19
Guangzhou 18
Buffalo 17
Phoenix 17
São Paulo 17
Dearborn 16
Florence 16
Jinan 16
Padova 16
Redondo Beach 16
Da Nang 15
Munich 15
San Diego 15
Frankfurt am Main 14
Haiphong 14
Saint Petersburg 14
Amman 12
Bengaluru 12
Changsha 12
London 11
Nuremberg 11
Hebei 10
Nanchang 10
Shanghai 10
Warsaw 10
Redmond 9
Tianjin 9
Brussels 8
Chicago 8
Jakarta 8
Orem 8
Shenyang 8
Shenzhen 8
Toronto 8
Zhengzhou 8
Amsterdam 7
Atlanta 7
Bern 7
Boydton 7
Des Moines 7
Hangzhou 7
Montreal 7
Mülheim 7
Redwood City 7
Wuhan 7
Frankfurt Am Main 6
Abeokuta 5
Brooklyn 5
Chengdu 5
Denver 5
Johannesburg 5
Rio de Janeiro 5
Rome 5
Shijiazhuang 5
Stockholm 5
Taiyuan 5
Thái Bình 5
Turku 5
Yubileyny 5
Belo Horizonte 4
Biên Hòa 4
Totale 3.888
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Nome #
Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation. 253
9q31.1q31.3 deletion in two patients with similar clinical features: a newly recognized microdeletion syndrome? 251
Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders 251
Novel Mutations in Neurogenic Chronic Intestinal Pseudo-Obstruction Identified by High-Throughput Sequencing 246
A de novo PUF60 mutation in a child with a syndromic form of coloboma and persistent fetal vasculature 233
Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients. 220
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes 220
FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype. 210
Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration 207
Mutations in RAD21 Disrupt Regulation of APOB in Patients With Chronic Intestinal Pseudo-Obstruction. 207
Genetics of human enteric neuropathies. 205
A regional audit system for stillbirth: A way to better understand the phenomenon 204
Aortic arch geometry predicts outcome in patients with Loeys–Dietz syndrome independent of the causative gene 204
Clinical Relevance of IFT140 Loss-of-Function Variants in Development of Renal Cysts 203
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study 202
Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts 195
Two novel PRNP truncating mutations broaden the spectrum of prion amyloidosis 178
An additional family with association of hereditary thrombocytosis and transverse limb deficiency: confirmation of a rare clinical spectrum. 177
New patients with Temple syndrome caused by 14q32 deletion: Genotype-phenotype correlations and risk of thyroid cancer 177
HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations 171
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 170
Kidney transplant in fabry disease: A revision of the literature 155
Fanconi-Bickel syndrome: a mild form associated with GLUT2 mutation 153
Functional Analysis of Missense Mutations of OAT, Causing Gyrate Atrophy of Choroid and Retina. 153
Su2019 Functional Characterization of a Novel RAD21 Mutation in Familial Chronic Intestinal Pseudo-Obstruction (CIPO) 146
Two distinct thyroid tumours in a Cowden Syndrome patient carrying both a 10q23 and a mitochondrial DNA germline deletion 145
Clinical interpretation of aCGH results in patients with neurodevelopmental disorders by geneticists: impact on diagnostic yield 143
MAYO AND PRO-PKD SCORE CONCORDANCE FOR PROGRESSION OF RENAL FALIURE EVALUATION IN ADPKD PATIENTS 139
Low WT1 Expression Identifies a Subset of Acute Myeloid Leukemia with a Distinct Genotype 138
Preferences of Italian patients for return of secondary findings from clinical genome/exome sequencing 137
CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management 125
Test genetici e consenso informato 125
Lights and shadows in the genetics of syndromic and non-syndromic hearing loss in the Italian population 125
There Is More Than Meets the Eye: Identification of Dual Molecular Diagnosis in Patients Affected by Hearing Loss 103
High prevalence of arterial dissection in patients with Loeys-Dietz syndrome and cerebral aneurysm 87
Increased intracranial arterial tortuosity is associated with worse cardiovascular outcome in patients with Loeys-Dietz syndrome 83
Totale 6.341
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Categoria #
all - tutte 16.774
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 16.774
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022555 0 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
2024/2025895 32 125 86 59 110 46 48 28 12 94 47 208
2025/20262.300 234 245 201 218 200 107 207 117 439 191 70 71
2026/2027171 79 92 0 0 0 0 0 0 0 0 0 0
Totale 6.341