CRIS Current Research Information System

SERI, MARCO
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
NA - Nord America 12.535
AS - Asia 8.139
EU - Europa 7.427
AF - Africa 624
SA - Sud America 499
OC - Oceania 12
Continente sconosciuto - Info sul continente non disponibili 2
Totale 29.238
Salva come PNG Salva come JPEG
Nazione #
US - Stati Uniti d'America 12.418
SG - Singapore 2.493
CN - Cina 2.452
IT - Italia 1.796
GB - Regno Unito 1.501
VN - Vietnam 1.471
DE - Germania 906
SE - Svezia 846
HK - Hong Kong 630
IN - India 405
RU - Federazione Russa 370
BR - Brasile 358
UA - Ucraina 334
FR - Francia 310
NL - Olanda 294
KR - Corea 276
IE - Irlanda 265
CI - Costa d'Avorio 190
TG - Togo 170
FI - Finlandia 153
ZA - Sudafrica 129
EE - Estonia 111
CH - Svizzera 100
JP - Giappone 98
JO - Giordania 94
BG - Bulgaria 91
SC - Seychelles 82
AT - Austria 70
CA - Canada 70
AR - Argentina 66
ID - Indonesia 64
PL - Polonia 60
BE - Belgio 59
MX - Messico 32
ES - Italia 29
CZ - Repubblica Ceca 28
HR - Croazia 26
BD - Bangladesh 25
NG - Nigeria 22
RO - Romania 20
TR - Turchia 20
EC - Ecuador 19
GR - Grecia 16
IR - Iran 16
CL - Cile 14
CO - Colombia 14
PE - Perù 13
IQ - Iraq 12
MY - Malesia 12
UZ - Uzbekistan 11
LT - Lituania 10
AE - Emirati Arabi Uniti 8
LB - Libano 8
AU - Australia 7
KE - Kenya 7
DK - Danimarca 6
EG - Egitto 6
PK - Pakistan 6
PY - Paraguay 6
AZ - Azerbaigian 5
DO - Repubblica Dominicana 5
DZ - Algeria 5
UY - Uruguay 5
GI - Gibilterra 4
IL - Israele 4
PA - Panama 4
PH - Filippine 4
SA - Arabia Saudita 4
SK - Slovacchia (Repubblica Slovacca) 4
TW - Taiwan 4
VE - Venezuela 4
AL - Albania 3
MA - Marocco 3
NZ - Nuova Zelanda 3
PT - Portogallo 3
BW - Botswana 2
CY - Cipro 2
HN - Honduras 2
HU - Ungheria 2
KG - Kirghizistan 2
KZ - Kazakistan 2
LV - Lettonia 2
LY - Libia 2
NO - Norvegia 2
NP - Nepal 2
SI - Slovenia 2
TH - Thailandia 2
TT - Trinidad e Tobago 2
ZM - Zambia 2
A2 - ???statistics.table.value.countryCode.A2??? 1
AD - Andorra 1
AO - Angola 1
BA - Bosnia-Erzegovina 1
BH - Bahrain 1
BT - Bhutan 1
BY - Bielorussia 1
DM - Dominica 1
EU - Europa 1
JM - Giamaica 1
LA - Repubblica Popolare Democratica del Laos 1
Totale 29.228
Salva come PNG Salva come JPEG
Città #
Houston 2.163
Singapore 1.666
Southend 1.250
Fairfield 1.186
Ashburn 1.154
Chandler 879
Hefei 639
Hong Kong 626
Woodbridge 595
Wilmington 502
Seattle 500
Bologna 497
Cambridge 443
Santa Clara 392
Ann Arbor 390
Dong Ket 351
Princeton 336
Beijing 284
Seoul 270
Dublin 262
Boardman 243
Ho Chi Minh City 210
Jacksonville 196
Abidjan 190
Dallas 185
Lomé 170
Hanoi 157
Los Angeles 153
Westminster 141
Nanjing 138
New York 133
Berlin 119
Padova 119
Helsinki 105
Redmond 102
Milan 99
Amman 94
Tokyo 92
Sofia 86
Buffalo 85
Florence 81
Bern 74
Turin 73
Jinan 69
Redondo Beach 69
Rome 67
Saint Petersburg 66
San Diego 66
Shenyang 61
Bengaluru 59
Munich 59
Brussels 57
Mülheim 50
São Paulo 50
Changsha 49
Guangzhou 47
Dearborn 46
Warsaw 46
Nuremberg 43
Falls Church 42
Tianjin 42
Jakarta 41
Vienna 40
Hebei 39
Frankfurt am Main 37
Redwood City 37
Shanghai 37
Nanchang 36
Zhengzhou 36
Amsterdam 34
Bremen 34
Des Moines 30
Falkenstein 30
Phoenix 30
Lappeenranta 29
London 29
Toronto 29
Haiphong 27
Chicago 26
Mahé 26
Yubileyny 26
Brooklyn 24
Modena 24
Boydton 23
Tongling 23
Hangzhou 22
Norwalk 22
Paris 22
Jiaxing 21
Verona 21
Denver 20
Shenzhen 20
Brno 19
Olalla 19
Xi'an 19
Biên Hòa 18
Haikou 18
Taizhou 18
Wuhan 18
Abeokuta 17
Totale 19.459
Salva come PNG Salva come JPEG
Nome #
Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene. 1.851
5′UTR point substitutions and N-terminal truncating mutations of ANKRD26 in acute myeloid leukemia 326
An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder. 312
A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype. 276
Syndromic intellectual disability: A new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant. 235
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy 234
LGI1 microdeletions are not a frequent cause of partial epilepsy with auditory features (PEAF). 231
Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation. 231
Mutant MYO1F alters the mitochondrial network and induces tumor proliferation in thyroid cancer 230
9q31.1q31.3 deletion in two patients with similar clinical features: a newly recognized microdeletion syndrome? 228
Apolipoprotein B is a new target of the GDNF/RET and ET-3/EDNRB signalling pathways 228
INPP4B overexpression and c-KIT downregulation in human achalasia. 227
Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies 225
Messenger RNA processing is altered in autosomal dominant leukodystrophy 218
Novel Mutations in Neurogenic Chronic Intestinal Pseudo-Obstruction Identified by High-Throughput Sequencing 214
Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders 214
A novel mutation in SPART gene causes a severe neurodevelopmental delay due to mitochondrial dysfunction with complex I impairments and altered pyruvate metabolism 214
A novel locus for syndromic chronic idiopathic intestinal pseudo-obstruction maps to chromosome 8q23-q24. 213
A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree. 206
Systematic reanalysis of partial trisomy 21 cases with or without Down syndrome suggests a small region on 21q22.13 as critical to the phenotype 205
Attitudes of women of advanced maternal age undergoing invasive prenatal diagnosis and the impact of genetic counselling 204
Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype-phenotype association 202
Ultra-Rare Variants Identify Biological Pathways and Candidate Genes in the Pathobiology of Non-Syndromic Cleft Palate Only 198
Accurate Detection of Hot-Spot MTOR Somatic Mutations in Archival Surgical Specimens of Focal Cortical Dysplasia by Molecular Inversion Probes 198
Autosomal dominant partial epilepsy with auditory features: A new locus on chromosome 19q13.11-q13.31. 197
Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: a novel mutation in the SPG11 gene and further evidence for genetic heterogeneity. 193
A de novo PUF60 mutation in a child with a syndromic form of coloboma and persistent fetal vasculature 193
An integrated route to identifying new pathogenesis-based therapeutic approaches for trisomy 21 (Down Syndrome) following the thought of Jérôme Lejeune 190
Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR-DSCR) on human chromosome 21 188
Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients. 187
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
FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype. 182
Prenatal genetic counseling referrals for advanced maternal age: still room for improvement. 180
Mowat-Wilson syndrome: Facial phenotype changing with age: Study of 19 Italian patients and review of the literature 180
Genomic profiles of primary and metastatic esophageal adenocarcinoma identified via digital sorting of pure cell populations: Results from a case report 179
Autosomal dominant adult spinal muscular atrophy associated with alacrimia and achalasia. 178
Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration 178
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East 178
Definition of the neurological phenotype associated with dup (X) (p11.22-p11.23). 177
Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy 176
Characterization of Cognitive, Language and Adaptive Profiles of Children and Adolescents with Malan Syndrome 175
A new form of inherited thrombocytopenia due to monoallelic loss of function mutation in the thrombopoietin gene 175
Clinical and pathogenetic features of ETV6 related thrombocytopenia with predisposition to acute lymphoblastic leukemia 175
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 171
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study 171
Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup 168
MYH9 related disease: four novel mutations of the tail domain of myosin-9 correlating with a mild clinical phenotype. 166
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes 166
Epilepsy with auditory features: A heterogeneous clinico-molecular disease 165
Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts 165
ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia 165
Cataplexy and ataxia: red flags for the diagnosis of DNA methyltransferase 1 mutation 164
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 164
Mutations of RUNX1 in families with inherited thrombocytopenia 163
Mutations in RAD21 Disrupt Regulation of APOB in Patients With Chronic Intestinal Pseudo-Obstruction. 161
A New COL1A1 Mutation Associated With Type I Osteogenesis Imperfecta: Treatment Options for a Woman of Childbearing Age 160
MYH9-Related Disease: A Novel Prognostic Model to Predict the Clinical Evolution of the Disease Based on Genotype-Phenotype Correlations 160
Prenatal diagnosis of Simpson–Golabi–Behmel syndrome 159
A regional audit system for stillbirth: A way to better understand the phenomenon 159
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. 158
A novel founder MYO15A frameshift duplication is the major cause of genetic hearing loss in Oman 158
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
Dissecting clinical findings: platelet defects segregate independently of deafness and cataract in a family affected by an apparent syndromic form of macrothrombocytopenia 156
Search for genetic factors in bicuspid aortic valve disease: ACTA2 mutations do not play a major role 156
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder 155
Correlations Between Cardiac Magnetic Resonance and Myocardial Histologic Findings in Fabry Disease 153
PHOX2B mutations and genetic predisposition to neuroblastoma. 152
Mutations responsible for MYH9-related thrombocytopenia impair SDF-1-driven migration of megakaryoblastic cells. 152
SLFN14-related thrombocytopenia: Identification within a large series of patients with inherited thrombocytopenia 152
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 152
Genetic Predisposition to Familial Neuroblastoma: Identification of Two Novel Genomic Regions at 2p and 12p. 151
Evidence of RET/GDNF-related apolipoprotein B (APOB) activation and altered expression in patients with chronic intestinal pseudo-obstruction (CIPO) 151
AUDACITY: A comprehensive approach for the detection and classification of Runs of Homozygosity in medical and population genomics 151
A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy. 150
Narcolepsy is a common phenotype in HSAN IE and ADCA-DN 150
A novel p63 mutation in a fetus with ultrasound detection of split hand/foot malformation. 149
An additional family with association of hereditary thrombocytosis and transverse limb deficiency: confirmation of a rare clinical spectrum. 149
A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations. 149
Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme Q 148
SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2. 148
EX-HOM (EXome-HOMozygosity): a proof of principle 148
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
Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy 147
Genetics in Familial Intrahepatic Cholestasis: Clinical Patterns and Development of Liver and Biliary Cancers: A Review of the Literature 146
Progressive cerebral white matter involvement in a patient with Congenital Cataracts Facial Dysmorphisms Neuropathy (CCFDN). 146
Where Birt-Hogg-Dubé meets Cowden Syndrome: Mirrored genetic defects in two cases of syndromic oncocytic tumours 146
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. 145
Refinement of the SPG9 locus on chromosome 10q23.3-24.2 and exclusion of candidate genes. 144
Molecular genetics of human enteric neuropathies. 142
MYO7A mutation screening in Usher syndrome type I patients from diverse origins. 142
Loss-of-function mutations in PTPRJ cause a new form of inherited thrombocytopenia 141
ANKRD26-related thrombocytopenia and myeloid malignancies. 141
A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents. 140
EXCAVATOR: detecting copy number variants from whole-exome sequencing data. 139
Persistence of a Monosomic Cell Line in a Fetus with Mosaic Trisomy 8 139
null 139
Dysregulation of oncogenic factors by GFI1B p32: investigation of a novel GFI1B germline mutation 138
Localization of a gene for nonsyndromic renal hypodysplasia to chromosome 1p32-33. 138
Exploration of Tools for the Interpretation of Human Non-Coding Variants 137
Totale 19.301
Salva come PNG Salva come JPEG
Categoria #
all - tutte 79.646
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 79.646
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20211.840 0 0 0 0 0 114 54 173 320 172 126 881
2021/20223.530 424 115 201 202 288 189 69 223 144 291 888 496
2022/20233.842 362 548 224 455 234 299 152 221 660 149 356 182
2023/20241.302 97 212 85 98 95 256 62 88 66 95 60 88
2024/20254.791 216 697 421 352 594 254 343 179 90 381 307 957
2025/20265.991 1.111 1.208 1.050 918 1.132 572 0 0 0 0 0 0
Totale 29.934