CRIS Current Research Information System

SERI, MARCO
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
NA - Nord America 10.590
EU - Europa 6.132
AS - Asia 2.911
AF - Africa 415
SA - Sud America 32
OC - Oceania 11
Continente sconosciuto - Info sul continente non disponibili 2
Totale 20.093
Salva come PNG Salva come JPEG
Nazione #
US - Stati Uniti d'America 10.563
IT - Italia 1.458
GB - Regno Unito 1.435
CN - Cina 977
VN - Vietnam 840
SE - Svezia 831
DE - Germania 766
SG - Singapore 579
UA - Ucraina 328
IN - India 317
IE - Irlanda 263
FR - Francia 241
RU - Federazione Russa 200
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 75
BE - Belgio 53
PL - Polonia 28
SC - Seychelles 26
CA - Canada 25
CZ - Repubblica Ceca 25
HR - Croazia 22
AT - Austria 21
NG - Nigeria 21
NL - Olanda 19
BR - Brasile 18
RO - Romania 17
GR - Grecia 15
HK - Hong Kong 14
TR - Turchia 13
IR - Iran 12
UZ - Uzbekistan 11
ES - Italia 10
JP - Giappone 10
CL - Cile 9
AU - Australia 8
LB - Libano 8
MY - Malesia 7
DK - Danimarca 6
BD - Bangladesh 5
KR - Corea 5
AE - Emirati Arabi Uniti 4
EG - Egitto 4
GI - Gibilterra 4
PE - Perù 4
NZ - Nuova Zelanda 3
SK - Slovacchia (Repubblica Slovacca) 3
AL - Albania 2
AM - Armenia 2
DZ - Algeria 2
HU - Ungheria 2
ID - Indonesia 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 20.093
Salva come PNG Salva come JPEG
Città #
Houston 2.160
Southend 1.250
Fairfield 1.186
Chandler 894
Ashburn 655
Woodbridge 595
Singapore 502
Wilmington 502
Seattle 488
Cambridge 443
Bologna 403
Ann Arbor 390
Dong Ket 351
Princeton 337
Dublin 262
Jacksonville 196
Lomé 171
Westminster 141
Nanjing 137
Berlin 120
Padova 119
Santa Clara 111
Redmond 102
New York 100
Amman 93
Sofia 87
Florence 79
Abidjan 77
Bern 74
Jinan 69
Turin 69
Milan 67
Saint Petersburg 66
San Diego 66
Helsinki 61
Shenyang 61
Beijing 54
Brussels 52
Mülheim 50
Dearborn 46
Los Angeles 45
Changsha 43
Falls Church 42
Boardman 41
Rome 41
Hebei 39
Tianjin 38
Redwood City 37
Nanchang 36
Bremen 34
Guangzhou 33
Des Moines 30
Zhengzhou 27
Mahé 26
Boydton 23
London 22
Norwalk 22
Frankfurt am Main 21
Warsaw 21
Jiaxing 20
Verona 20
Hangzhou 19
Olalla 19
Shanghai 19
Abeokuta 18
Brno 18
Haikou 18
Vienna 18
Medford 17
Paris 17
São Paulo 17
Taizhou 17
Hyderabad 15
Xi'an 15
Hong Kong 14
Lappeenranta 14
Modena 14
Toronto 14
Wuhan 14
Costa Mesa 13
Kuban 13
Ningbo 13
Frankfurt Am Main 12
Shenzhen 12
Amsterdam 11
Ferrara 11
Munich 11
Parma 11
Bari 10
Bühl 10
Fuzhou 9
Lanzhou 9
Mountain View 9
Pune 9
Chicago 8
Foshan 8
Harbin 8
Istanbul 8
Kunming 8
Taiyuan 8
Totale 13.855
Salva come PNG Salva come JPEG
Nome #
Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene. 1.807
A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype. 242
An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder. 238
5′UTR point substitutions and N-terminal truncating mutations of ANKRD26 in acute myeloid leukemia 204
Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation. 188
A novel locus for syndromic chronic idiopathic intestinal pseudo-obstruction maps to chromosome 8q23-q24. 184
Apolipoprotein B is a new target of the GDNF/RET and ET-3/EDNRB signalling pathways 184
LGI1 microdeletions are not a frequent cause of partial epilepsy with auditory features (PEAF). 173
Mutant MYO1F alters the mitochondrial network and induces tumor proliferation in thyroid cancer 173
A novel mutation in SPART gene causes a severe neurodevelopmental delay due to mitochondrial dysfunction with complex I impairments and altered pyruvate metabolism 172
Syndromic intellectual disability: A new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant. 171
9q31.1q31.3 deletion in two patients with similar clinical features: a newly recognized microdeletion syndrome? 171
Attitudes of women of advanced maternal age undergoing invasive prenatal diagnosis and the impact of genetic counselling 170
INPP4B overexpression and c-KIT downregulation in human achalasia. 169
Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders 167
Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies 166
A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree. 165
Autosomal dominant partial epilepsy with auditory features: A new locus on chromosome 19q13.11-q13.31. 162
Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: a novel mutation in the SPG11 gene and further evidence for genetic heterogeneity. 160
Genetics of human enteric neuropathies. 160
Messenger RNA processing is altered in autosomal dominant leukodystrophy 155
Systematic reanalysis of partial trisomy 21 cases with or without Down syndrome suggests a small region on 21q22.13 as critical to the phenotype 155
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. 153
Autosomal dominant adult spinal muscular atrophy associated with alacrimia and achalasia. 145
Accurate Detection of Hot-Spot MTOR Somatic Mutations in Archival Surgical Specimens of Focal Cortical Dysplasia by Molecular Inversion Probes 144
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy 144
A de novo PUF60 mutation in a child with a syndromic form of coloboma and persistent fetal vasculature 143
MYH9 related disease: four novel mutations of the tail domain of myosin-9 correlating with a mild clinical phenotype. 141
Definition of the neurological phenotype associated with dup (X) (p11.22-p11.23). 141
FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype. 141
Mowat-Wilson syndrome: Facial phenotype changing with age: Study of 19 Italian patients and review of the literature 140
Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients. 140
null 139
An integrated route to identifying new pathogenesis-based therapeutic approaches for trisomy 21 (Down Syndrome) following the thought of Jérôme Lejeune 139
Novel Mutations in Neurogenic Chronic Intestinal Pseudo-Obstruction Identified by High-Throughput Sequencing 138
A new form of inherited thrombocytopenia due to monoallelic loss of function mutation in the thrombopoietin gene 135
Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR-DSCR) on human chromosome 21 135
Genomic profiles of primary and metastatic esophageal adenocarcinoma identified via digital sorting of pure cell populations: Results from a case report 133
ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia 132
A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy. 131
Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration 130
null 130
Epilepsy with auditory features: A heterogeneous clinico-molecular disease 129
Clinical and pathogenetic features of ETV6 related thrombocytopenia with predisposition to acute lymphoblastic leukemia 129
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East 128
Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts 127
Prenatal genetic counseling referrals for advanced maternal age: still room for improvement. 126
Genetic Predisposition to Familial Neuroblastoma: Identification of Two Novel Genomic Regions at 2p and 12p. 126
A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations. 126
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 126
A novel founder MYO15A frameshift duplication is the major cause of genetic hearing loss in Oman 125
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 125
Cataplexy and ataxia: red flags for the diagnosis of DNA methyltransferase 1 mutation 125
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study 125
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. 124
EX-HOM (EXome-HOMozygosity): a proof of principle 124
Mutations in RAD21 Disrupt Regulation of APOB in Patients With Chronic Intestinal Pseudo-Obstruction. 124
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. 123
Narcolepsy is a common phenotype in HSAN IE and ADCA-DN 123
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. 122
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 122
An additional family with association of hereditary thrombocytosis and transverse limb deficiency: confirmation of a rare clinical spectrum. 121
A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents. 121
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes 121
Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy 120
Prenatal diagnosis of Simpson–Golabi–Behmel syndrome 120
Where Birt-Hogg-Dubé meets Cowden Syndrome: Mirrored genetic defects in two cases of syndromic oncocytic tumours 120
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 119
SLFN14-related thrombocytopenia: Identification within a large series of patients with inherited thrombocytopenia 118
A novel p63 mutation in a fetus with ultrasound detection of split hand/foot malformation. 116
Progressive cerebral white matter involvement in a patient with Congenital Cataracts Facial Dysmorphisms Neuropathy (CCFDN). 116
Mutations responsible for MYH9-related thrombocytopenia impair SDF-1-driven migration of megakaryoblastic cells. 116
Dissecting clinical findings: platelet defects segregate independently of deafness and cataract in a family affected by an apparent syndromic form of macrothrombocytopenia 115
Localization of a gene for nonsyndromic renal hypodysplasia to chromosome 1p32-33. 115
Mutations of RUNX1 in families with inherited thrombocytopenia 114
Refinement of the SPG9 locus on chromosome 10q23.3-24.2 and exclusion of candidate genes. 113
MYO7A mutation screening in Usher syndrome type I patients from diverse origins. 111
AUDACITY: A comprehensive approach for the detection and classification of Runs of Homozygosity in medical and population genomics 111
PHOX2B mutations and genetic predisposition to neuroblastoma. 110
Evidence of RET/GDNF-related apolipoprotein B (APOB) activation and altered expression in patients with chronic intestinal pseudo-obstruction (CIPO) 110
EXCAVATOR: detecting copy number variants from whole-exome sequencing data. 110
null 110
MYH9-Related Disease: A Novel Prognostic Model to Predict the Clinical Evolution of the Disease Based on Genotype-Phenotype Correlations 109
Linkage exclusion in Italian families with hereditary essential tremor. 109
Persistence of a Monosomic Cell Line in a Fetus with Mosaic Trisomy 8 109
Search for genetic factors in bicuspid aortic valve disease: ACTA2 mutations do not play a major role 109
ANKRD26-related thrombocytopenia and myeloid malignancies. 109
A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation 108
SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2. 107
Su1852 The 5-HT4 Selective Agonist Prucalopride Exerts Neural and Epithelial Protective Effects In Vitro 107
Deciphering chronic intestinal pseudo-obstruction: do mice help to solve the riddle? 107
GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease. 106
Psychological consequences of prenatal diagnosis in a case of familial Angelman syndrome 106
Epilepsy in Mowat-Wilson syndrome: Delineation of the electroclinical phenotype. 104
Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families. 104
null 103
Heavy chain myosin 9-related disease (MYH9 -RD): Neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder. 103
Loss-of-function mutations in PTPRJ cause a new form of inherited thrombocytopenia 103
null 103
null 102
Totale 15.024
Salva come PNG Salva come JPEG
Categoria #
all - tutte 51.269
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 51.269
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20204.607 0 0 0 605 839 580 608 618 651 307 177 222
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
2024/20251.511 217 699 421 174 0 0 0 0 0 0 0 0
Totale 20.725