CRIS Current Research Information System

SERI, MARCO
 Distribuzione geografica
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Continente #
NA - Nord America 10.974
EU - Europa 6.164
AS - Asia 3.157
AF - Africa 415
SA - Sud America 33
OC - Oceania 11
Continente sconosciuto - Info sul continente non disponibili 2
Totale 20.756
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Nazione #
US - Stati Uniti d'America 10.946
IT - Italia 1.480
GB - Regno Unito 1.436
CN - Cina 1.028
VN - Vietnam 840
SE - Svezia 831
DE - Germania 769
SG - Singapore 734
UA - Ucraina 328
IN - India 317
IE - Irlanda 263
FR - Francia 242
RU - Federazione Russa 202
TG - Togo 171
EE - Estonia 111
ZA - Sudafrica 111
CH - Svizzera 99
JO - Giordania 93
BG - Bulgaria 90
CI - Costa d'Avorio 77
FI - Finlandia 76
BE - Belgio 53
ID - Indonesia 41
PL - Polonia 28
CA - Canada 26
SC - Seychelles 26
CZ - Repubblica Ceca 25
HR - Croazia 22
AT - Austria 21
NG - Nigeria 21
NL - Olanda 21
BR - Brasile 18
RO - Romania 17
GR - Grecia 15
HK - Hong Kong 14
TR - Turchia 13
IR - Iran 12
JP - Giappone 11
UZ - Uzbekistan 11
ES - Italia 10
CL - Cile 9
AU - Australia 8
LB - Libano 8
MY - Malesia 7
DK - Danimarca 6
BD - Bangladesh 5
KR - Corea 5
PE - Perù 5
AE - Emirati Arabi Uniti 4
EG - Egitto 4
GI - Gibilterra 4
NZ - Nuova Zelanda 3
SK - Slovacchia (Repubblica Slovacca) 3
AL - Albania 2
AM - Armenia 2
DZ - Algeria 2
HU - Ungheria 2
IL - Israele 2
LY - Libia 2
NO - Norvegia 2
PA - Panama 2
PH - Filippine 2
PT - Portogallo 2
A2 - ???statistics.table.value.countryCode.A2??? 1
AR - Argentina 1
BT - Bhutan 1
CY - Cipro 1
EU - Europa 1
KZ - Kazakistan 1
LA - Repubblica Popolare Democratica del Laos 1
LT - Lituania 1
LV - Lettonia 1
MA - Marocco 1
MD - Moldavia 1
OM - Oman 1
PK - Pakistan 1
SA - Arabia Saudita 1
SI - Slovenia 1
TW - Taiwan 1
Totale 20.756
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Città #
Houston 2.160
Southend 1.250
Fairfield 1.186
Chandler 894
Ashburn 658
Singapore 656
Woodbridge 595
Wilmington 502
Seattle 488
Cambridge 443
Bologna 403
Ann Arbor 390
Dong Ket 351
Princeton 337
Santa Clara 290
Dublin 262
Boardman 230
Jacksonville 196
Lomé 171
Westminster 141
Nanjing 138
Berlin 120
Padova 119
Redmond 102
New York 100
Amman 93
Sofia 87
Florence 79
Abidjan 77
Bern 74
Milan 74
Jinan 69
Turin 69
Saint Petersburg 66
San Diego 66
Helsinki 62
Shenyang 61
Beijing 58
Brussels 52
Mülheim 50
Dearborn 46
Los Angeles 45
Changsha 43
Falls Church 42
Rome 42
Hebei 39
Jakarta 39
Tianjin 38
Redwood City 37
Nanchang 36
Bremen 34
Guangzhou 33
Des Moines 30
Zhengzhou 29
Mahé 26
Shanghai 25
Boydton 23
London 22
Norwalk 22
Frankfurt am Main 21
Warsaw 21
Jiaxing 20
Verona 20
Hangzhou 19
Olalla 19
Abeokuta 18
Brno 18
Haikou 18
Vienna 18
Medford 17
Modena 17
Paris 17
São Paulo 17
Taizhou 17
Wuhan 16
Xi'an 16
Hyderabad 15
Toronto 15
Hong Kong 14
Lappeenranta 14
Costa Mesa 13
Kuban 13
Munich 13
Ningbo 13
Frankfurt Am Main 12
Shenzhen 12
Amsterdam 11
Ferrara 11
Parma 11
Bari 10
Bühl 10
Harbin 10
Kunming 10
Lanzhou 10
Fuzhou 9
Mountain View 9
Pune 9
Chicago 8
Foshan 8
Istanbul 8
Totale 14.447
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Nome #
Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene. 1.808
A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype. 246
An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder. 242
5′UTR point substitutions and N-terminal truncating mutations of ANKRD26 in acute myeloid leukemia 210
Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation. 195
Apolipoprotein B is a new target of the GDNF/RET and ET-3/EDNRB signalling pathways 190
A novel locus for syndromic chronic idiopathic intestinal pseudo-obstruction maps to chromosome 8q23-q24. 188
LGI1 microdeletions are not a frequent cause of partial epilepsy with auditory features (PEAF). 176
A novel mutation in SPART gene causes a severe neurodevelopmental delay due to mitochondrial dysfunction with complex I impairments and altered pyruvate metabolism 176
Mutant MYO1F alters the mitochondrial network and induces tumor proliferation in thyroid cancer 175
Syndromic intellectual disability: A new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant. 174
9q31.1q31.3 deletion in two patients with similar clinical features: a newly recognized microdeletion syndrome? 174
Attitudes of women of advanced maternal age undergoing invasive prenatal diagnosis and the impact of genetic counselling 174
INPP4B overexpression and c-KIT downregulation in human achalasia. 173
Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders 173
Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies 171
A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree. 168
Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: a novel mutation in the SPG11 gene and further evidence for genetic heterogeneity. 167
Autosomal dominant partial epilepsy with auditory features: A new locus on chromosome 19q13.11-q13.31. 165
Genetics of human enteric neuropathies. 162
Systematic reanalysis of partial trisomy 21 cases with or without Down syndrome suggests a small region on 21q22.13 as critical to the phenotype 158
Messenger RNA processing is altered in autosomal dominant leukodystrophy 157
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. 154
Autosomal dominant adult spinal muscular atrophy associated with alacrimia and achalasia. 149
A de novo PUF60 mutation in a child with a syndromic form of coloboma and persistent fetal vasculature 148
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy 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
Accurate Detection of Hot-Spot MTOR Somatic Mutations in Archival Surgical Specimens of Focal Cortical Dysplasia by Molecular Inversion Probes 145
Mowat-Wilson syndrome: Facial phenotype changing with age: Study of 19 Italian patients and review of the literature 143
MYH9 related disease: four novel mutations of the tail domain of myosin-9 correlating with a mild clinical phenotype. 143
Definition of the neurological phenotype associated with dup (X) (p11.22-p11.23). 143
Novel Mutations in Neurogenic Chronic Intestinal Pseudo-Obstruction Identified by High-Throughput Sequencing 143
An integrated route to identifying new pathogenesis-based therapeutic approaches for trisomy 21 (Down Syndrome) following the thought of Jérôme Lejeune 143
null 139
Genomic profiles of primary and metastatic esophageal adenocarcinoma identified via digital sorting of pure cell populations: Results from a case report 139
A new form of inherited thrombocytopenia due to monoallelic loss of function mutation in the thrombopoietin gene 138
Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR-DSCR) on human chromosome 21 138
Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration 136
ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia 135
A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy. 134
Epilepsy with auditory features: A heterogeneous clinico-molecular disease 133
Clinical and pathogenetic features of ETV6 related thrombocytopenia with predisposition to acute lymphoblastic leukemia 133
Prenatal genetic counseling referrals for advanced maternal age: still room for improvement. 131
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East 131
null 130
Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts 130
Genetic Predisposition to Familial Neuroblastoma: Identification of Two Novel Genomic Regions at 2p and 12p. 129
A novel founder MYO15A frameshift duplication is the major cause of genetic hearing loss in Oman 129
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 129
Cataplexy and ataxia: red flags for the diagnosis of DNA methyltransferase 1 mutation 129
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study 129
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 129
A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations. 128
Mutations in RAD21 Disrupt Regulation of APOB in Patients With Chronic Intestinal Pseudo-Obstruction. 128
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. 127
EX-HOM (EXome-HOMozygosity): a proof of principle 127
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
Identification of BRCA1/2 p.Ser1613Gly, p.Pro871Leu, p.Lys1183Arg, p.Glu1038Gly, p.Ser1140Gly, p.Ala2466Val, p.His2440Arg variants in women under 45 years old with breast nodules suspected of having breast cancer in Burkina Faso 127
Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families 127
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. 126
Narcolepsy is a common phenotype in HSAN IE and ADCA-DN 125
Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females. 124
Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy 124
A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents. 124
Where Birt-Hogg-Dubé meets Cowden Syndrome: Mirrored genetic defects in two cases of syndromic oncocytic tumours 124
Prenatal diagnosis of Simpson–Golabi–Behmel syndrome 123
SLFN14-related thrombocytopenia: Identification within a large series of patients with inherited thrombocytopenia 121
Progressive cerebral white matter involvement in a patient with Congenital Cataracts Facial Dysmorphisms Neuropathy (CCFDN). 120
A novel p63 mutation in a fetus with ultrasound detection of split hand/foot malformation. 119
Mutations responsible for MYH9-related thrombocytopenia impair SDF-1-driven migration of megakaryoblastic cells. 119
Evidence of RET/GDNF-related apolipoprotein B (APOB) activation and altered expression in patients with chronic intestinal pseudo-obstruction (CIPO) 118
Mutations of RUNX1 in families with inherited thrombocytopenia 118
Refinement of the SPG9 locus on chromosome 10q23.3-24.2 and exclusion of candidate genes. 117
Dissecting clinical findings: platelet defects segregate independently of deafness and cataract in a family affected by an apparent syndromic form of macrothrombocytopenia 116
Localization of a gene for nonsyndromic renal hypodysplasia to chromosome 1p32-33. 116
AUDACITY: A comprehensive approach for the detection and classification of Runs of Homozygosity in medical and population genomics 116
PHOX2B mutations and genetic predisposition to neuroblastoma. 115
EXCAVATOR: detecting copy number variants from whole-exome sequencing data. 115
Persistence of a Monosomic Cell Line in a Fetus with Mosaic Trisomy 8 115
Linkage exclusion in Italian families with hereditary essential tremor. 113
MYO7A mutation screening in Usher syndrome type I patients from diverse origins. 112
Su1852 The 5-HT4 Selective Agonist Prucalopride Exerts Neural and Epithelial Protective Effects In Vitro 112
Search for genetic factors in bicuspid aortic valve disease: ACTA2 mutations do not play a major role 112
A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation 111
ANKRD26-related thrombocytopenia and myeloid malignancies. 111
MYH9-Related Disease: A Novel Prognostic Model to Predict the Clinical Evolution of the Disease Based on Genotype-Phenotype Correlations 110
Psychological consequences of prenatal diagnosis in a case of familial Angelman syndrome 110
null 110
SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2. 109
Molecular genetics of human enteric neuropathies. 109
GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease. 108
Deciphering chronic intestinal pseudo-obstruction: do mice help to solve the riddle? 108
Epilepsy in Mowat-Wilson syndrome: Delineation of the electroclinical phenotype. 106
Loss-of-function mutations in PTPRJ cause a new form of inherited thrombocytopenia 106
Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2 105
Heavy chain myosin 9-related disease (MYH9 -RD): Neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder. 105
Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families. 105
Novel p.Glu519Gln missense mutation in ST14 in a patient with ichthyosis, follicular atrophoderma and hypotrichosis and review of the literature 104
Totale 15.372
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Categoria #
all - tutte 53.390
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 53.390
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20204.002 0 0 0 0 839 580 608 618 651 307 177 222
2020/20212.877 543 202 93 113 86 114 54 173 320 172 126 881
2021/20223.530 424 115 201 202 288 189 69 223 144 291 888 496
2022/20233.890 365 553 226 459 239 304 153 226 674 151 357 183
2023/20241.316 97 214 86 98 95 257 64 88 72 95 60 90
2024/20252.174 217 699 421 358 479 0 0 0 0 0 0 0
Totale 21.388