CRIS Current Research Information System

PANZA, EMANUELE
 Distribuzione geografica
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Continente #
NA - Nord America 2.001
AS - Asia 1.471
EU - Europa 1.179
AF - Africa 86
SA - Sud America 70
OC - Oceania 2
Totale 4.809
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Nazione #
US - Stati Uniti d'America 1.984
SG - Singapore 432
CN - Cina 415
VN - Vietnam 308
IT - Italia 245
GB - Regno Unito 224
DE - Germania 192
HK - Hong Kong 132
SE - Svezia 101
UA - Ucraina 89
RU - Federazione Russa 64
IN - India 59
KR - Corea 47
FR - Francia 46
BR - Brasile 45
IE - Irlanda 43
FI - Finlandia 41
JO - Giordania 31
TG - Togo 26
CI - Costa d'Avorio 25
NL - Olanda 23
JP - Giappone 22
EE - Estonia 18
AR - Argentina 14
AT - Austria 14
BG - Bulgaria 14
CH - Svizzera 14
ZA - Sudafrica 14
SC - Seychelles 12
BE - Belgio 10
PL - Polonia 10
CA - Canada 9
CZ - Repubblica Ceca 8
RO - Romania 8
ID - Indonesia 7
HR - Croazia 6
LT - Lituania 5
MX - Messico 5
CL - Cile 4
CO - Colombia 4
MY - Malesia 4
BD - Bangladesh 3
NG - Nigeria 3
TR - Turchia 3
ES - Italia 2
IQ - Iraq 2
LY - Libia 2
MA - Marocco 2
AU - Australia 1
CR - Costa Rica 1
DZ - Algeria 1
EC - Ecuador 1
GP - Guadalupe 1
IL - Israele 1
IR - Iran 1
LB - Libano 1
NZ - Nuova Zelanda 1
PA - Panama 1
PE - Perù 1
PK - Pakistan 1
PT - Portogallo 1
SI - Slovenia 1
TH - Thailandia 1
TN - Tunisia 1
UZ - Uzbekistan 1
VE - Venezuela 1
Totale 4.809
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Città #
Singapore 267
Southend 194
Chandler 192
Fairfield 176
Ashburn 168
Dong Ket 150
Hong Kong 132
Hefei 107
Santa Clara 105
Woodbridge 105
Houston 89
Cambridge 88
Wilmington 88
Seattle 79
Jacksonville 67
Ann Arbor 64
Beijing 62
Bologna 59
Princeton 55
Boardman 54
New York 47
Dublin 43
Seoul 43
Helsinki 32
Amman 31
Los Angeles 31
Berlin 27
Lomé 26
Abidjan 25
Dallas 24
Ho Chi Minh City 24
Westminster 23
Tokyo 22
Nanjing 21
Bremen 20
Munich 20
Padova 20
Bengaluru 15
Buffalo 15
Milan 15
Mülheim 13
Sofia 13
Guangzhou 12
Hanoi 12
Jinan 12
Redmond 11
Brussels 10
San Diego 10
Bern 9
Saint Petersburg 9
Shenyang 9
Warsaw 9
Changsha 8
Des Moines 8
Falkenstein 8
Hangzhou 8
Mahé 8
Vienna 8
Phoenix 7
Redondo Beach 7
Rome 7
Tianjin 7
Yubileyny 7
Zhengzhou 7
Brno 6
Falls Church 6
Florence 6
Lappeenranta 6
Olalla 6
Redwood City 6
Shanghai 6
Amsterdam 5
Pianella 5
São Paulo 5
Turin 5
Brooklyn 4
Buenos Aires 4
Denver 4
Genzano Di Roma 4
Harbin 4
Hebei 4
Kuala Lumpur 4
Manchester 4
Nanchang 4
Norwalk 4
Nuremberg 4
Pomezia 4
Shenzhen 4
Taizhou 4
Toronto 4
Xi'an 4
Altedo 3
Bogotá 3
Boston 3
Carol Stream 3
Clifton 3
Costa Mesa 3
Dearborn 3
Ferrara 3
Fuzhou 3
Totale 3.197
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Nome #
Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation. 231
A novel locus for syndromic chronic idiopathic intestinal pseudo-obstruction maps to chromosome 8q23-q24. 213
Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: a novel mutation in the SPG11 gene and further evidence for genetic heterogeneity. 193
Benign albeit glycolytic: MCT4 expression and lactate release in giant cell tumour of bone 192
Genetics of human enteric neuropathies. 187
A heritable cause of cleft lip and palate - Van der Woude syndrome caused by a novel IRF6 mutation. Review of the literature and of the differential diagnosis. 183
Autosomal dominant adult spinal muscular atrophy associated with alacrimia and achalasia. 178
Application of a fluorescent PCR method for molecular diagnosis of posttransplant lymphoproliferative disorders on routine tissue sections. 177
MYH9 related disease: four novel mutations of the tail domain of myosin-9 correlating with a mild clinical phenotype. 166
Hereditary spastic paraplegia is a common phenotypic finding in ARG1 deficiency, P5CS deficiency and HHH syndrome: Three inborn errors of metabolism caused by alteration of an interconnected pathway of glutamate and urea cycle metabolism 158
Case report: Functional characterization of a novel CHD7 intronic variant in patients with CHARGE syndrome 153
Mutations responsible for MYH9-related thrombocytopenia impair SDF-1-driven migration of megakaryoblastic cells. 152
Genetic Predisposition to Familial Neuroblastoma: Identification of Two Novel Genomic Regions at 2p and 12p. 151
A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations. 149
The breakpoint identified in a balanced de novo translocation t(7;9)(p14.1;q31.3) disrupts the A-kinase (PRKA) anchor protein 2 gene (AKAP2) on chromosome 9 in a patient with Kallmann syndrome and bone anomalies. 147
Refinement of the SPG9 locus on chromosome 10q23.3-24.2 and exclusion of candidate genes. 144
Molecular genetics of human enteric neuropathies. 142
null 139
New perspectives in the diagnosis and management of enteric neuropathies 138
P5CS expression study in a new family with ALDH18A1-associated hereditary spastic paraplegia SPG9 137
Delineation of the 9q31 deletion syndrome: Genomic microarray characterization of two patients with overlapping deletions 127
Heavy chain myosin 9-related disease (MYH9 -RD): Neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder. 127
Transfection of the mutant MYH9 cDNA reproduces the most typical cellular phenotype of MYH9-related disease in different cell lines. 120
ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism 120
The clear cell sarcoma functional genomic landscape 113
Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease. 108
Experimental Cell Models for Investigating Neurodegenerative Diseases 107
Phenotypic Description of A Patient with ODLURO Syndrome and Functional Characterization of the Pathogenetic Role of A Synonymous Variant c.186G>A in KMT2E Gene 100
Effects of APOE isoforms in diabetic nephropathy patients of South India 99
Effectiveness and Impact of Transcript Analysis in Clinical Genetics Daily Practice 97
Δ1 -Pyrroline-5-carboxylate synthetase (P5CS) deficiency: An emergent multifaceted urea cycle-related disorder 96
Biomarkers in Hereditary Spastic Paraplegias 68
Seizures and Cardiomyopathy in a Patient with Pallister-Killian Syndrome due to Hexasomy 12p Mosaicism 68
Hereditary spastic paraplegia: Genetic heterogeneity and common pathways 57
Mutations responsible for MYH9-related thrombocytopenia impair SDF-1-driven migration of megakaryoblastic cells 55
Hereditary spastic paraplegias proteome: common pathways and pathogenetic mechanisms 52
Linkage analysis in informative families for the identification of disease genes in the post-genoma era | L{'}analisi di linkage in famiglie informative per l{'}identificazione di geni malattia nell{'}era post-genoma 41
MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness 32
Totale 4.917
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Categoria #
all - tutte 13.688
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 13.688
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021413 0 0 0 0 0 44 9 45 26 35 21 233
2021/2022664 79 19 28 28 43 30 16 21 27 62 210 101
2022/2023645 66 104 38 103 37 47 12 38 115 14 51 20
2023/2024265 29 35 26 13 22 68 8 19 5 5 10 25
2024/2025833 43 124 91 38 150 47 69 44 12 30 39 146
2025/2026942 155 184 210 133 178 82 0 0 0 0 0 0
Totale 4.917