CRIS Current Research Information System

PANZA, EMANUELE
 Distribuzione geografica
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Continente #
NA - Nord America 1.598
EU - Europa 983
AS - Asia 441
AF - Africa 52
SA - Sud America 6
OC - Oceania 2
Totale 3.082
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Nazione #
US - Stati Uniti d'America 1.595
VN - Vietnam 252
GB - Regno Unito 215
IT - Italia 194
DE - Germania 161
CN - Cina 101
SE - Svezia 97
UA - Ucraina 89
IN - India 43
IE - Irlanda 42
FR - Francia 36
RU - Federazione Russa 36
JO - Giordania 31
TG - Togo 26
FI - Finlandia 19
EE - Estonia 18
CH - Svizzera 14
BG - Bulgaria 13
ZA - Sudafrica 11
BE - Belgio 9
CZ - Repubblica Ceca 8
SC - Seychelles 8
AT - Austria 7
RO - Romania 7
HR - Croazia 5
NL - Olanda 5
PL - Polonia 4
BR - Brasile 3
CA - Canada 3
CL - Cile 3
NG - Nigeria 3
SG - Singapore 3
HK - Hong Kong 2
LY - Libia 2
MY - Malesia 2
AU - Australia 1
BD - Bangladesh 1
CI - Costa d'Avorio 1
ES - Italia 1
IL - Israele 1
IR - Iran 1
KR - Corea 1
LB - Libano 1
LT - Lituania 1
MA - Marocco 1
NZ - Nuova Zelanda 1
PT - Portogallo 1
SI - Slovenia 1
TR - Turchia 1
UZ - Uzbekistan 1
Totale 3.082
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Città #
Southend 194
Chandler 192
Fairfield 176
Dong Ket 150
Woodbridge 105
Ashburn 103
Houston 89
Cambridge 88
Wilmington 88
Seattle 77
Jacksonville 67
Ann Arbor 64
Princeton 55
Bologna 47
Dublin 42
New York 42
Amman 31
Berlin 27
Lomé 26
Westminster 23
Bremen 20
Padova 20
Helsinki 19
Boardman 18
Nanjing 18
Mülheim 13
Sofia 13
Beijing 12
Redmond 11
Jinan 10
Milan 10
Bern 9
Brussels 9
Saint Petersburg 9
San Diego 9
Shenyang 9
Des Moines 8
Mahé 8
Brno 6
Changsha 6
Falls Church 6
Florence 6
Olalla 6
Redwood City 6
Hangzhou 5
Pianella 5
Turin 5
Zhengzhou 5
Genzano Di Roma 4
Guangzhou 4
Hebei 4
Munich 4
Nanchang 4
Norwalk 4
Pomezia 4
Taizhou 4
Warsaw 4
Altedo 3
Carol Stream 3
Costa Mesa 3
Dearborn 3
Ferrara 3
Los Angeles 3
Medford 3
Ningbo 3
North Bergen 3
Rimini 3
Singapore 3
São Paulo 3
Tianjin 3
Toronto 3
Vienna 3
Abeokuta 2
Bollate 2
Braunschweig 2
Fremont 2
Fuzhou 2
Heidelberg 2
Hong Kong 2
Iglesias 2
Imola 2
Jiaxing 2
Kuala Lumpur 2
Kuban 2
Lodi 2
London 2
Melville 2
Philadelphia 2
Ravenna 2
Salt Lake City 2
Spezzano della Sila 2
Tappahannock 2
Tripoli 2
Verona 2
Abidjan 1
Amsterdam 1
Ardabil 1
Auckland 1
Augusta 1
Boston 1
Totale 2.098
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Nome #
A novel locus for syndromic chronic idiopathic intestinal pseudo-obstruction maps to chromosome 8q23-q24. 179
Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation. 177
Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: a novel mutation in the SPG11 gene and further evidence for genetic heterogeneity. 153
Genetics of human enteric neuropathies. 149
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. 146
Benign albeit glycolytic: MCT4 expression and lactate release in giant cell tumour of bone 144
Application of a fluorescent PCR method for molecular diagnosis of posttransplant lymphoproliferative disorders on routine tissue sections. 143
Autosomal dominant adult spinal muscular atrophy associated with alacrimia and achalasia. 141
null 139
MYH9 related disease: four novel mutations of the tail domain of myosin-9 correlating with a mild clinical phenotype. 138
A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations. 124
Genetic Predisposition to Familial Neuroblastoma: Identification of Two Novel Genomic Regions at 2p and 12p. 122
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 120
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. 118
Mutations responsible for MYH9-related thrombocytopenia impair SDF-1-driven migration of megakaryoblastic cells. 107
Refinement of the SPG9 locus on chromosome 10q23.3-24.2 and exclusion of candidate genes. 104
Heavy chain myosin 9-related disease (MYH9 -RD): Neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder. 97
P5CS expression study in a new family with ALDH18A1-associated hereditary spastic paraplegia SPG9 96
Molecular genetics of human enteric neuropathies. 95
Delineation of the 9q31 deletion syndrome: Genomic microarray characterization of two patients with overlapping deletions 90
Transfection of the mutant MYH9 cDNA reproduces the most typical cellular phenotype of MYH9-related disease in different cell lines. 86
New perspectives in the diagnosis and management of enteric neuropathies 86
ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism 73
Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease. 71
The clear cell sarcoma functional genomic landscape 62
Δ1 -Pyrroline-5-carboxylate synthetase (P5CS) deficiency: An emergent multifaceted urea cycle-related disorder 54
Case report: Functional characterization of a novel CHD7 intronic variant in patients with CHARGE syndrome 43
Seizures and Cardiomyopathy in a Patient with Pallister-Killian Syndrome due to Hexasomy 12p Mosaicism 36
Hereditary spastic paraplegia: Genetic heterogeneity and common pathways 23
Mutations responsible for MYH9-related thrombocytopenia impair SDF-1-driven migration of megakaryoblastic cells 22
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 16
Hereditary spastic paraplegias proteome: common pathways and pathogenetic mechanisms 11
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 3
Totale 3.168
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Categoria #
all - tutte 7.723
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 7.723
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020726 75 14 16 44 83 78 92 98 112 51 32 31
2020/2021619 115 23 23 21 24 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
2024/202526 26 0 0 0 0 0 0 0 0 0 0 0
Totale 3.168