CRIS Current Research Information System

SERI, MARCO
 Distribuzione geografica
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Continente #
NA - Nord America 13.669
AS - Asia 10.984
EU - Europa 7.969
AF - Africa 683
SA - Sud America 596
OC - Oceania 15
Continente sconosciuto - Info sul continente non disponibili 2
Totale 33.918
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Nazione #
US - Stati Uniti d'America 13.512
VN - Vietnam 3.013
SG - Singapore 2.852
CN - Cina 2.818
IT - Italia 1.943
GB - Regno Unito 1.528
DE - Germania 939
SE - Svezia 848
HK - Hong Kong 727
FR - Francia 501
IN - India 475
BR - Brasile 407
RU - Federazione Russa 371
UA - Ucraina 344
NL - Olanda 314
KR - Corea 300
IE - Irlanda 268
CI - Costa d'Avorio 192
FI - Finlandia 190
TG - Togo 171
JP - Giappone 167
ZA - Sudafrica 152
EE - Estonia 112
CH - Svizzera 103
JO - Giordania 98
BG - Bulgaria 93
CA - Canada 89
AR - Argentina 88
SC - Seychelles 82
ID - Indonesia 78
PL - Polonia 74
PH - Filippine 73
AT - Austria 71
BE - Belgio 65
BD - Bangladesh 59
TH - Thailandia 51
IQ - Iraq 44
MX - Messico 42
TR - Turchia 40
ES - Italia 38
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 19
GR - Grecia 18
IR - Iran 16
LT - Lituania 14
MY - Malesia 14
UZ - Uzbekistan 14
PE - Perù 13
KE - Kenya 12
LB - Libano 11
MA - Marocco 11
AU - Australia 10
EG - Egitto 10
AE - Emirati Arabi Uniti 9
IL - Israele 9
DK - Danimarca 8
DZ - Algeria 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
JM - Giamaica 5
SY - Repubblica araba siriana 5
AO - Angola 4
BH - Bahrain 4
CY - Cipro 4
GI - Gibilterra 4
HN - Honduras 4
KG - Kirghizistan 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
PT - Portogallo 3
RS - Serbia 3
AD - Andorra 2
BW - Botswana 2
CR - Costa Rica 2
GE - Georgia 2
KH - Cambogia 2
LV - Lettonia 2
LY - Libia 2
OM - Oman 2
TT - Trinidad e Tobago 2
Totale 33.893
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Città #
Houston 2.164
Singapore 1.992
Ashburn 1.258
Southend 1.250
Fairfield 1.186
Chandler 879
Hong Kong 688
Hefei 641
Ho Chi Minh City 613
Woodbridge 595
San Jose 555
Bologna 526
Cambridge 509
Wilmington 502
Seattle 500
Hanoi 497
Santa Clara 407
Ann Arbor 390
Dong Ket 351
Princeton 336
Beijing 294
Seoul 271
Dublin 265
Boardman 243
Jacksonville 197
Abidjan 192
Dallas 191
Los Angeles 186
Lauterbourg 177
Lomé 171
New York 149
Nanjing 141
Westminster 141
Helsinki 140
Tokyo 140
Council Bluffs 120
Berlin 119
Padova 119
Milan 104
Redmond 102
Haiphong 101
Amman 96
Buffalo 93
Sofia 86
Da Nang 81
Florence 81
Turin 77
Bern 74
Rome 73
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
São Paulo 58
Warsaw 54
Changsha 51
Mülheim 50
Amsterdam 47
Dearborn 46
Shanghai 46
Nuremberg 45
Jakarta 44
Tianjin 43
Falls Church 42
Vienna 41
London 40
Hebei 39
Nanchang 37
Redwood City 37
Biên Hòa 36
Chicago 36
Zhengzhou 36
Bremen 34
Phoenix 33
Des Moines 32
Toronto 32
Hangzhou 31
Hải Dương 31
Lappeenranta 31
Falkenstein 30
Johannesburg 28
Orem 28
Paris 28
Shenzhen 27
Brooklyn 26
Mahé 26
Yubileyny 26
Boydton 24
Can Tho 24
Modena 24
Montreal 24
Tongling 24
Chennai 23
Denver 23
Totale 22.146
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Nome #
Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene. 1.865
5′UTR point substitutions and N-terminal truncating mutations of ANKRD26 in acute myeloid leukemia 408
An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder. 344
A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype. 303
Messenger RNA processing is altered in autosomal dominant leukodystrophy 278
Mutant MYO1F alters the mitochondrial network and induces tumor proliferation in thyroid cancer 270
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy 264
Syndromic intellectual disability: A new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant. 255
INPP4B overexpression and c-KIT downregulation in human achalasia. 255
Apolipoprotein B is a new target of the GDNF/RET and ET-3/EDNRB signalling pathways 254
LGI1 microdeletions are not a frequent cause of partial epilepsy with auditory features (PEAF). 253
Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation. 249
9q31.1q31.3 deletion in two patients with similar clinical features: a newly recognized microdeletion syndrome? 243
Novel Mutations in Neurogenic Chronic Intestinal Pseudo-Obstruction Identified by High-Throughput Sequencing 243
Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders 243
Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies 241
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 mutation in SPART gene causes a severe neurodevelopmental delay due to mitochondrial dysfunction with complex I impairments and altered pyruvate metabolism 238
Ultra-Rare Variants Identify Biological Pathways and Candidate Genes in the Pathobiology of Non-Syndromic Cleft Palate Only 237
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 237
Attitudes of women of advanced maternal age undergoing invasive prenatal diagnosis and the impact of genetic counselling 231
A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree. 231
A novel locus for syndromic chronic idiopathic intestinal pseudo-obstruction maps to chromosome 8q23-q24. 229
Systematic reanalysis of partial trisomy 21 cases with or without Down syndrome suggests a small region on 21q22.13 as critical to the phenotype 228
Accurate Detection of Hot-Spot MTOR Somatic Mutations in Archival Surgical Specimens of Focal Cortical Dysplasia by Molecular Inversion Probes 228
A de novo PUF60 mutation in a child with a syndromic form of coloboma and persistent fetal vasculature 227
miRNA–221 and miRNA–483–3p Dysregulation in Esophageal Adenocarcinoma 226
Autosomal dominant partial epilepsy with auditory features: A new locus on chromosome 19q13.11-q13.31. 224
An integrated route to identifying new pathogenesis-based therapeutic approaches for trisomy 21 (Down Syndrome) following the thought of Jérôme Lejeune 217
Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR-DSCR) on human chromosome 21 215
Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients. 211
Genomic profiles of primary and metastatic esophageal adenocarcinoma identified via digital sorting of pure cell populations: Results from a case report 209
Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup 207
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East 207
Definition of the neurological phenotype associated with dup (X) (p11.22-p11.23). 206
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes 205
Genetics of human enteric neuropathies. 204
A new form of inherited thrombocytopenia due to monoallelic loss of function mutation in the thrombopoietin gene 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
FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype. 202
Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy 201
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 201
Mowat-Wilson syndrome: Facial phenotype changing with age: Study of 19 Italian patients and review of the literature 200
Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration 200
Clinical and pathogenetic features of ETV6 related thrombocytopenia with predisposition to acute lymphoblastic leukemia 197
Autosomal dominant adult spinal muscular atrophy associated with alacrimia and achalasia. 196
A regional audit system for stillbirth: A way to better understand the phenomenon 196
Prenatal genetic counseling referrals for advanced maternal age: still room for improvement. 195
Mutations in RAD21 Disrupt Regulation of APOB in Patients With Chronic Intestinal Pseudo-Obstruction. 195
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study 191
Search for genetic factors in bicuspid aortic valve disease: ACTA2 mutations do not play a major role 190
Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts 190
Characterization of Cognitive, Language and Adaptive Profiles of Children and Adolescents with Malan Syndrome 189
Cataplexy and ataxia: red flags for the diagnosis of DNA methyltransferase 1 mutation 187
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder 186
Epilepsy with auditory features: A heterogeneous clinico-molecular disease 185
ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia 185
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
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 183
A novel founder MYO15A frameshift duplication is the major cause of genetic hearing loss in Oman 182
Mutations of RUNX1 in families with inherited thrombocytopenia 182
Targeted Sequencing of Sorted Esophageal Adenocarcinoma Cells Unveils Known and Novel Mutations in the Separated Subpopulations 182
AUDACITY: A comprehensive approach for the detection and classification of Runs of Homozygosity in medical and population genomics 182
Correlations Between Cardiac Magnetic Resonance and Myocardial Histologic Findings in Fabry Disease 181
Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme Q 180
MYH9 related disease: four novel mutations of the tail domain of myosin-9 correlating with a mild clinical phenotype. 180
A New COL1A1 Mutation Associated With Type I Osteogenesis Imperfecta: Treatment Options for a Woman of Childbearing Age 179
Evidence of RET/GDNF-related apolipoprotein B (APOB) activation and altered expression in patients with chronic intestinal pseudo-obstruction (CIPO) 179
Prenatal diagnosis of Simpson–Golabi–Behmel syndrome 176
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. 175
Genetics in Familial Intrahepatic Cholestasis: Clinical Patterns and Development of Liver and Biliary Cancers: A Review of the Literature 174
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 174
Dysregulation of oncogenic factors by GFI1B p32: investigation of a novel GFI1B germline mutation 173
Where Birt-Hogg-Dubé meets Cowden Syndrome: Mirrored genetic defects in two cases of syndromic oncocytic tumours 173
MYH9-Related Disease: A Novel Prognostic Model to Predict the Clinical Evolution of the Disease Based on Genotype-Phenotype Correlations 172
SLFN14-related thrombocytopenia: Identification within a large series of patients with inherited thrombocytopenia 170
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability 169
Narcolepsy is a common phenotype in HSAN IE and ADCA-DN 169
Dissecting clinical findings: platelet defects segregate independently of deafness and cataract in a family affected by an apparent syndromic form of macrothrombocytopenia 168
A novel p63 mutation in a fetus with ultrasound detection of split hand/foot malformation. 168
Whole-exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late 167
Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy 165
Progressive cerebral white matter involvement in a patient with Congenital Cataracts Facial Dysmorphisms Neuropathy (CCFDN). 165
Exploration of Tools for the Interpretation of Human Non-Coding Variants 163
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
An additional family with association of hereditary thrombocytosis and transverse limb deficiency: confirmation of a rare clinical spectrum. 161
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 161
Genetic Predisposition to Familial Neuroblastoma: Identification of Two Novel Genomic Regions at 2p and 12p. 160
A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy. 160
SDHA Germline Variants in Adult Patients With SDHA-Mutant Gastrointestinal Stromal Tumor 160
SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2. 159
ANKRD26-related thrombocytopenia and myeloid malignancies. 159
PHOX2B mutations and genetic predisposition to neuroblastoma. 158
Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2 158
Loss-of-function mutations in PTPRJ cause a new form of inherited thrombocytopenia 158
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
EXCAVATOR: detecting copy number variants from whole-exome sequencing data. 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
Totale 21.772
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Categoria #
all - tutte 86.747
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 86.747
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20211.179 0 0 0 0 0 0 0 0 0 172 126 881
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
2025/202610.727 1.111 1.208 1.050 918 1.132 657 1.272 509 2.059 811 0 0
Totale 34.670