CRIS Current Research Information System

PANZA, EMANUELE
 Distribuzione geografica
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Continente #
NA - Nord America 2.216
AS - Asia 1.940
EU - Europa 1.255
AF - Africa 97
SA - Sud America 84
OC - Oceania 2
Totale 5.594
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Nazione #
US - Stati Uniti d'America 2.195
VN - Vietnam 608
SG - Singapore 478
CN - Cina 471
IT - Italia 264
GB - Regno Unito 230
DE - Germania 193
HK - Hong Kong 139
SE - Svezia 102
UA - Ucraina 90
FR - Francia 72
IN - India 65
RU - Federazione Russa 64
KR - Corea 53
BR - Brasile 50
IE - Irlanda 46
FI - Finlandia 45
JO - Giordania 31
JP - Giappone 31
NL - Olanda 26
TG - Togo 26
CI - Costa d'Avorio 25
EE - Estonia 18
AR - Argentina 16
CH - Svizzera 15
ZA - Sudafrica 15
AT - Austria 14
BG - Bulgaria 14
PL - Polonia 13
CA - Canada 12
SC - Seychelles 12
BE - Belgio 10
ID - Indonesia 10
RO - Romania 9
CZ - Repubblica Ceca 8
PH - Filippine 8
TH - Thailandia 8
BD - Bangladesh 6
CL - Cile 6
HR - Croazia 6
IQ - Iraq 6
MX - Messico 6
TR - Turchia 6
ES - Italia 5
LT - Lituania 5
MA - Marocco 5
CO - Colombia 4
MY - Malesia 4
TW - Taiwan 4
EC - Ecuador 3
NG - Nigeria 3
PK - Pakistan 3
SI - Slovenia 3
VE - Venezuela 3
ET - Etiopia 2
LY - Libia 2
SA - Arabia Saudita 2
UZ - Uzbekistan 2
AE - Emirati Arabi Uniti 1
AL - Albania 1
AO - Angola 1
AU - Australia 1
BW - Botswana 1
CR - Costa Rica 1
CY - Cipro 1
DZ - Algeria 1
EG - Egitto 1
GP - Guadalupe 1
IL - Israele 1
IR - Iran 1
KE - Kenya 1
LB - Libano 1
NO - Norvegia 1
NZ - Nuova Zelanda 1
PA - Panama 1
PE - Perù 1
PT - Portogallo 1
PY - Paraguay 1
TN - Tunisia 1
UG - Uganda 1
Totale 5.594
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Città #
Singapore 305
Southend 194
Chandler 192
Ashburn 191
Fairfield 176
Dong Ket 150
Hong Kong 134
Cambridge 123
Hefei 108
Santa Clara 106
Woodbridge 105
Ho Chi Minh City 93
Houston 89
San Jose 88
Wilmington 88
Hanoi 83
Seattle 79
Bologna 67
Jacksonville 67
Ann Arbor 64
Beijing 63
Princeton 55
Boardman 54
New York 52
Dublin 46
Seoul 44
Helsinki 35
Los Angeles 35
Amman 31
Berlin 27
Tokyo 27
Lomé 26
Abidjan 25
Dallas 25
Lauterbourg 25
Council Bluffs 24
Westminster 23
Haiphong 21
Nanjing 21
Bremen 20
Munich 20
Padova 20
Da Nang 17
Guangzhou 16
Milan 16
Bengaluru 15
Buffalo 15
Mülheim 13
Sofia 13
Jinan 12
Redmond 11
Warsaw 11
Brussels 10
San Diego 10
Bern 9
Changsha 9
Des Moines 9
Hangzhou 9
Rome 9
Saint Petersburg 9
Shenyang 9
Falkenstein 8
Mahé 8
Shanghai 8
Vienna 8
Amsterdam 7
Florence 7
Lappeenranta 7
Phoenix 7
Redondo Beach 7
São Paulo 7
Tianjin 7
Yubileyny 7
Zhengzhou 7
Atlanta 6
Brno 6
Falls Church 6
Olalla 6
Redwood City 6
Toronto 6
Xi'an 6
London 5
Manchester 5
Orem 5
Pianella 5
Turin 5
Biên Hòa 4
Brooklyn 4
Buenos Aires 4
Chicago 4
Denver 4
Genzano Di Roma 4
Harbin 4
Hebei 4
Jakarta 4
Kuala Lumpur 4
Long Xuyen 4
Nanchang 4
Ningbo 4
Norwalk 4
Totale 3.661
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Nome #
Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation. 249
Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: a novel mutation in the SPG11 gene and further evidence for genetic heterogeneity. 238
A novel locus for syndromic chronic idiopathic intestinal pseudo-obstruction maps to chromosome 8q23-q24. 229
Benign albeit glycolytic: MCT4 expression and lactate release in giant cell tumour of bone 221
Genetics of human enteric neuropathies. 204
Application of a fluorescent PCR method for molecular diagnosis of posttransplant lymphoproliferative disorders on routine tissue sections. 204
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. 202
Autosomal dominant adult spinal muscular atrophy associated with alacrimia and achalasia. 196
Case report: Functional characterization of a novel CHD7 intronic variant in patients with CHARGE syndrome 188
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 183
Effectiveness and Impact of Transcript Analysis in Clinical Genetics Daily Practice 182
MYH9 related disease: four novel mutations of the tail domain of myosin-9 correlating with a mild clinical phenotype. 180
Mutations responsible for MYH9-related thrombocytopenia impair SDF-1-driven migration of megakaryoblastic cells. 163
A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations. 162
Genetic Predisposition to Familial Neuroblastoma: Identification of Two Novel Genomic Regions at 2p and 12p. 160
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. 157
P5CS expression study in a new family with ALDH18A1-associated hereditary spastic paraplegia SPG9 156
Refinement of the SPG9 locus on chromosome 10q23.3-24.2 and exclusion of candidate genes. 154
Molecular genetics of human enteric neuropathies. 153
New perspectives in the diagnosis and management of enteric neuropathies 150
ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism 149
Heavy chain myosin 9-related disease (MYH9 -RD): Neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder. 146
Delineation of the 9q31 deletion syndrome: Genomic microarray characterization of two patients with overlapping deletions 145
null 139
Experimental Cell Models for Investigating Neurodegenerative Diseases 133
Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease. 132
Transfection of the mutant MYH9 cDNA reproduces the most typical cellular phenotype of MYH9-related disease in different cell lines. 131
The clear cell sarcoma functional genomic landscape 129
Δ1 -Pyrroline-5-carboxylate synthetase (P5CS) deficiency: An emergent multifaceted urea cycle-related disorder 128
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 124
Effects of APOE isoforms in diabetic nephropathy patients of South India 115
Biomarkers in Hereditary Spastic Paraplegias 90
Seizures and Cardiomyopathy in a Patient with Pallister-Killian Syndrome due to Hexasomy 12p Mosaicism 86
Mutations responsible for MYH9-related thrombocytopenia impair SDF-1-driven migration of megakaryoblastic cells 75
Hereditary spastic paraplegia: Genetic heterogeneity and common pathways 74
Hereditary spastic paraplegias proteome: common pathways and pathogenetic mechanisms 65
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 49
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 41
Two pathogenetic intronic variants in SPG4/SPAST and expansion of the clinical presentation 32
Totale 5.714
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Categoria #
all - tutte 14.953
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 14.953
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021289 0 0 0 0 0 0 0 0 0 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
2025/20261.739 155 184 210 133 178 91 202 72 366 148 0 0
Totale 5.714