CRIS Current Research Information System

SERI, MARCO
 Distribuzione geografica
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Continente #
NA - Nord America 14.381
AS - Asia 11.162
EU - Europa 8.179
AF - Africa 685
SA - Sud America 618
OC - Oceania 16
Continente sconosciuto - Info sul continente non disponibili 2
Totale 35.043
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Nazione #
US - Stati Uniti d'America 14.180
VN - Vietnam 3.018
SG - Singapore 2.872
CN - Cina 2.840
IT - Italia 2.132
GB - Regno Unito 1.531
DE - Germania 941
SE - Svezia 848
HK - Hong Kong 738
FR - Francia 502
IN - India 476
BR - Brasile 426
RU - Federazione Russa 371
UA - Ucraina 344
NL - Olanda 319
KR - Corea 300
IE - Irlanda 268
CI - Costa d'Avorio 192
FI - Finlandia 190
BD - Bangladesh 178
TG - Togo 171
JP - Giappone 167
ZA - Sudafrica 152
CA - Canada 114
EE - Estonia 112
CH - Svizzera 105
JO - Giordania 98
BG - Bulgaria 93
AR - Argentina 88
SC - Seychelles 82
ID - Indonesia 78
PL - Polonia 76
PH - Filippine 73
AT - Austria 71
BE - Belgio 65
TH - Thailandia 51
MX - Messico 49
IQ - Iraq 44
TR - Turchia 40
ES - Italia 39
HR - Croazia 33
CZ - Repubblica Ceca 29
TW - Taiwan 26
CO - Colombia 24
EC - Ecuador 24
NG - Nigeria 24
PK - Pakistan 24
RO - Romania 22
SA - Arabia Saudita 22
CL - Cile 20
GR - Grecia 18
IR - Iran 16
PE - Perù 15
LT - Lituania 14
MY - Malesia 14
UZ - Uzbekistan 14
KE - Kenya 12
AU - Australia 11
LB - Libano 11
MA - Marocco 11
DZ - Algeria 10
EG - Egitto 10
AE - Emirati Arabi Uniti 9
IL - Israele 9
DK - Danimarca 8
JM - Giamaica 8
PY - Paraguay 8
AL - Albania 7
AZ - Azerbaigian 7
DO - Repubblica Dominicana 6
ET - Etiopia 6
SI - Slovenia 6
UY - Uruguay 6
VE - Venezuela 6
CR - Costa Rica 5
HN - Honduras 5
PT - Portogallo 5
SY - Repubblica araba siriana 5
AO - Angola 4
BH - Bahrain 4
CY - Cipro 4
GI - Gibilterra 4
KG - Kirghizistan 4
MD - Moldavia 4
NP - Nepal 4
PA - Panama 4
SK - Slovacchia (Repubblica Slovacca) 4
BA - Bosnia-Erzegovina 3
HU - Ungheria 3
KZ - Kazakistan 3
NO - Norvegia 3
NZ - Nuova Zelanda 3
RS - Serbia 3
AD - Andorra 2
BW - Botswana 2
GE - Georgia 2
KH - Cambogia 2
LV - Lettonia 2
LY - Libia 2
NI - Nicaragua 2
Totale 35.012
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Città #
Houston 2.166
Singapore 2.009
Ashburn 1.311
Southend 1.250
Fairfield 1.186
Chandler 879
Hong Kong 699
Hefei 641
San Jose 640
Ho Chi Minh City 613
Woodbridge 595
Bologna 540
Cambridge 510
Seattle 504
Wilmington 502
Hanoi 499
Santa Clara 437
Ann Arbor 390
Dong Ket 351
Princeton 336
Beijing 305
Seoul 271
Dublin 265
Boardman 261
New York 211
Los Angeles 202
Council Bluffs 200
Dallas 200
Jacksonville 197
Abidjan 192
Lauterbourg 177
Lomé 171
Nanjing 141
Westminster 141
Helsinki 140
Tokyo 140
Berlin 119
Padova 119
Milan 118
Buffalo 105
Redmond 102
Haiphong 101
Amman 96
Sofia 86
Rome 85
Florence 82
Da Nang 81
Turin 81
São Paulo 75
Bern 74
Jinan 70
Guangzhou 69
Redondo Beach 69
Saint Petersburg 66
San Diego 66
Brussels 62
Frankfurt am Main 62
Shenyang 62
Bengaluru 61
Munich 59
Warsaw 55
Changsha 51
Mülheim 50
Shanghai 48
Amsterdam 47
Dearborn 46
Nuremberg 45
Jakarta 44
Tianjin 43
Falls Church 42
Chicago 41
Vienna 41
London 40
Hebei 39
Phoenix 39
Nanchang 37
Redwood City 37
Toronto 37
Biên Hòa 36
Zhengzhou 36
Orem 35
Bremen 34
Des Moines 32
Hangzhou 31
Hải Dương 31
Lappeenranta 31
Falkenstein 30
Johannesburg 28
Montreal 28
Paris 28
Brooklyn 27
Shenzhen 27
Denver 26
Mahé 26
Yubileyny 26
Atlanta 24
Boydton 24
Can Tho 24
Modena 24
Tongling 24
Totale 22.656
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Nome #
Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene. 1.869
5′UTR point substitutions and N-terminal truncating mutations of ANKRD26 in acute myeloid leukemia 414
An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder. 354
A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype. 309
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 282
Messenger RNA processing is altered in autosomal dominant leukodystrophy 280
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy 278
Mutant MYO1F alters the mitochondrial network and induces tumor proliferation in thyroid cancer 277
INPP4B overexpression and c-KIT downregulation in human achalasia. 262
Syndromic intellectual disability: A new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant. 256
Ultra-Rare Variants Identify Biological Pathways and Candidate Genes in the Pathobiology of Non-Syndromic Cleft Palate Only 255
LGI1 microdeletions are not a frequent cause of partial epilepsy with auditory features (PEAF). 255
Apolipoprotein B is a new target of the GDNF/RET and ET-3/EDNRB signalling pathways 255
Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation. 251
Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders 248
9q31.1q31.3 deletion in two patients with similar clinical features: a newly recognized microdeletion syndrome? 245
Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies 245
Novel Mutations in Neurogenic Chronic Intestinal Pseudo-Obstruction Identified by High-Throughput Sequencing 244
Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: a novel mutation in the SPG11 gene and further evidence for genetic heterogeneity. 243
A novel mutation in SPART gene causes a severe neurodevelopmental delay due to mitochondrial dysfunction with complex I impairments and altered pyruvate metabolism 242
miRNA–221 and miRNA–483–3p Dysregulation in Esophageal Adenocarcinoma 238
Attitudes of women of advanced maternal age undergoing invasive prenatal diagnosis and the impact of genetic counselling 232
A de novo PUF60 mutation in a child with a syndromic form of coloboma and persistent fetal vasculature 232
A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree. 232
Systematic reanalysis of partial trisomy 21 cases with or without Down syndrome suggests a small region on 21q22.13 as critical to the phenotype 231
A novel locus for syndromic chronic idiopathic intestinal pseudo-obstruction maps to chromosome 8q23-q24. 231
A new form of inherited thrombocytopenia due to monoallelic loss of function mutation in the thrombopoietin gene 230
Autosomal dominant partial epilepsy with auditory features: A new locus on chromosome 19q13.11-q13.31. 229
Accurate Detection of Hot-Spot MTOR Somatic Mutations in Archival Surgical Specimens of Focal Cortical Dysplasia by Molecular Inversion Probes 229
An integrated route to identifying new pathogenesis-based therapeutic approaches for trisomy 21 (Down Syndrome) following the thought of Jérôme Lejeune 227
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East 225
Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR-DSCR) on human chromosome 21 221
Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients. 217
Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup 216
Genomic profiles of primary and metastatic esophageal adenocarcinoma identified via digital sorting of pure cell populations: Results from a case report 216
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. 210
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes 209
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 209
Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy 208
Definition of the neurological phenotype associated with dup (X) (p11.22-p11.23). 207
FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype. 207
Mowat-Wilson syndrome: Facial phenotype changing with age: Study of 19 Italian patients and review of the literature 206
Genetics of human enteric neuropathies. 204
Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration 204
Mutations in RAD21 Disrupt Regulation of APOB in Patients With Chronic Intestinal Pseudo-Obstruction. 204
Clinical and pathogenetic features of ETV6 related thrombocytopenia with predisposition to acute lymphoblastic leukemia 203
Autosomal dominant adult spinal muscular atrophy associated with alacrimia and achalasia. 202
A regional audit system for stillbirth: A way to better understand the phenomenon 202
Dysregulation of oncogenic factors by GFI1B p32: investigation of a novel GFI1B germline mutation 197
Prenatal genetic counseling referrals for advanced maternal age: still room for improvement. 196
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study 196
A New COL1A1 Mutation Associated With Type I Osteogenesis Imperfecta: Treatment Options for a Woman of Childbearing Age 195
Characterization of Cognitive, Language and Adaptive Profiles of Children and Adolescents with Malan Syndrome 194
Search for genetic factors in bicuspid aortic valve disease: ACTA2 mutations do not play a major role 193
Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts 193
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder 193
Cataplexy and ataxia: red flags for the diagnosis of DNA methyltransferase 1 mutation 191
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 191
Epilepsy with auditory features: A heterogeneous clinico-molecular disease 190
Correlations Between Cardiac Magnetic Resonance and Myocardial Histologic Findings in Fabry Disease 187
AUDACITY: A comprehensive approach for the detection and classification of Runs of Homozygosity in medical and population genomics 187
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 186
ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia 186
MYH9 related disease: four novel mutations of the tail domain of myosin-9 correlating with a mild clinical phenotype. 185
Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme Q 184
Targeted Sequencing of Sorted Esophageal Adenocarcinoma Cells Unveils Known and Novel Mutations in the Separated Subpopulations 184
Genetics in Familial Intrahepatic Cholestasis: Clinical Patterns and Development of Liver and Biliary Cancers: A Review of the Literature 183
Evidence of RET/GDNF-related apolipoprotein B (APOB) activation and altered expression in patients with chronic intestinal pseudo-obstruction (CIPO) 183
A novel founder MYO15A frameshift duplication is the major cause of genetic hearing loss in Oman 183
Mutations of RUNX1 in families with inherited thrombocytopenia 183
Prenatal diagnosis of Simpson–Golabi–Behmel syndrome 179
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 177
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability 175
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. 175
Narcolepsy is a common phenotype in HSAN IE and ADCA-DN 175
Whole-exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late 175
MYH9-Related Disease: A Novel Prognostic Model to Predict the Clinical Evolution of the Disease Based on Genotype-Phenotype Correlations 174
Dissecting clinical findings: platelet defects segregate independently of deafness and cataract in a family affected by an apparent syndromic form of macrothrombocytopenia 174
Where Birt-Hogg-Dubé meets Cowden Syndrome: Mirrored genetic defects in two cases of syndromic oncocytic tumours 173
A novel p63 mutation in a fetus with ultrasound detection of split hand/foot malformation. 172
SLFN14-related thrombocytopenia: Identification within a large series of patients with inherited thrombocytopenia 172
Mutations responsible for MYH9-related thrombocytopenia impair SDF-1-driven migration of megakaryoblastic cells. 168
Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy 167
A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations. 167
Progressive cerebral white matter involvement in a patient with Congenital Cataracts Facial Dysmorphisms Neuropathy (CCFDN). 166
Exploration of Tools for the Interpretation of Human Non-Coding Variants 165
SDHA Germline Variants in Adult Patients With SDHA-Mutant Gastrointestinal Stromal Tumor 165
PHOX2B mutations and genetic predisposition to neuroblastoma. 163
Genetic Predisposition to Familial Neuroblastoma: Identification of Two Novel Genomic Regions at 2p and 12p. 163
A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy. 163
Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations 163
Differences in Patterns of Stimulant Use and Their Impact on First-Episode Psychosis Incidence: An Analysis of the EUGEI Study 162
SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2. 162
An additional family with association of hereditary thrombocytosis and transverse limb deficiency: confirmation of a rare clinical spectrum. 162
EXCAVATOR: detecting copy number variants from whole-exome sequencing data. 162
The relationship between genetic liability, childhood maltreatment, and IQ: findings from the EU-GEI multicentric case–control study 161
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. 161
P5CS expression study in a new family with ALDH18A1-associated hereditary spastic paraplegia SPG9 161
MR Brain Screening in ADPKD Patients 160
Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2 159
Totale 22.326
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Categoria #
all - tutte 92.316
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 92.316
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021881 0 0 0 0 0 0 0 0 0 0 0 881
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
2025/202611.855 1.111 1.208 1.050 918 1.132 657 1.272 509 2.059 950 539 450
Totale 35.798