IRIS
PILUSO, Giulio
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
EU - Europa 9.285
NA - Nord America 5.625
AS - Asia 3.669
SA - Sud America 561
Continente sconosciuto - Info sul continente non disponibili 354
AF - Africa 51
OC - Oceania 2
Totale 19.547
Salva come PNG Salva come JPEG
Nazione #
RU - Federazione Russa 5.890
US - Stati Uniti d'America 5.492
SG - Singapore 1.257
IE - Irlanda 918
IT - Italia 900
CN - Cina 782
HK - Hong Kong 518
VN - Vietnam 461
BR - Brasile 449
UA - Ucraina 349
GB - Regno Unito 343
DE - Germania 285
KR - Corea 192
FR - Francia 172
IN - India 114
FI - Finlandia 107
JP - Giappone 94
BD - Bangladesh 81
SE - Svezia 80
CA - Canada 64
TR - Turchia 59
GR - Grecia 55
AR - Argentina 52
NL - Olanda 41
MX - Messico 29
PL - Polonia 26
AT - Austria 23
EC - Ecuador 20
BE - Belgio 19
ID - Indonesia 19
ES - Italia 18
ZA - Sudafrica 18
PK - Pakistan 15
IQ - Iraq 13
CO - Colombia 12
LT - Lituania 11
PH - Filippine 10
SA - Arabia Saudita 10
PY - Paraguay 9
CZ - Repubblica Ceca 8
EE - Estonia 8
MA - Marocco 8
EU - Europa 7
UZ - Uzbekistan 7
CR - Costa Rica 6
DZ - Algeria 6
HN - Honduras 6
JO - Giordania 6
PE - Perù 6
RO - Romania 6
GT - Guatemala 5
OM - Oman 5
TN - Tunisia 5
AE - Emirati Arabi Uniti 4
CI - Costa d'Avorio 4
CL - Cile 4
DO - Repubblica Dominicana 4
JM - Giamaica 4
TH - Thailandia 4
TT - Trinidad e Tobago 4
UY - Uruguay 4
VE - Venezuela 4
AL - Albania 3
BA - Bosnia-Erzegovina 3
CH - Svizzera 3
IL - Israele 3
NI - Nicaragua 3
NP - Nepal 3
PT - Portogallo 3
BH - Bahrain 2
DK - Danimarca 2
EG - Egitto 2
HU - Ungheria 2
KE - Kenya 2
KZ - Kazakistan 2
LB - Libano 2
PA - Panama 2
PR - Porto Rico 2
RS - Serbia 2
SK - Slovacchia (Repubblica Slovacca) 2
XK - ???statistics.table.value.countryCode.XK??? 2
AM - Armenia 1
AU - Australia 1
AZ - Azerbaigian 1
BB - Barbados 1
BG - Bulgaria 1
BN - Brunei Darussalam 1
BS - Bahamas 1
CM - Camerun 1
GP - Guadalupe 1
IM - Isola di Man 1
KW - Kuwait 1
LU - Lussemburgo 1
LV - Lettonia 1
LY - Libia 1
NG - Nigeria 1
NO - Norvegia 1
NZ - Nuova Zelanda 1
SC - Seychelles 1
SI - Slovenia 1
Totale 19.196
Salva come PNG Salva come JPEG
Città #
Moscow 2.116
Dublin 914
San Jose 604
Santa Clara 567
Singapore 567
Jacksonville 533
Hong Kong 505
Chandler 485
Ashburn 449
Council Bluffs 291
Seoul 182
Ho Chi Minh City 166
Hefei 115
Princeton 114
Milan 111
Hanoi 98
Caserta 97
Beijing 95
Naples 94
Ann Arbor 89
Medford 86
Bremen 82
Boardman 76
Roxbury 76
New York 74
Bengaluru 70
Dallas 67
Woodbridge 63
Los Angeles 59
Wilmington 54
The Dalles 44
Aversa 43
Cambridge 39
San Mateo 38
Munich 32
Miano 30
São Paulo 30
Da Nang 29
Amsterdam 27
Chicago 26
Rome 26
Des Moines 25
North Bergen 24
Atlanta 23
Haiphong 23
Mountain View 22
Tokyo 22
Napoli 21
Nuremberg 21
Warsaw 21
Düsseldorf 19
Helsinki 19
Nanjing 19
Rio de Janeiro 19
Boston 17
Brussels 17
Guangzhou 17
Frankfurt am Main 16
Casoria 15
Houston 15
Shenyang 15
Vienna 15
Auburn Hills 14
London 14
Toronto 13
Brooklyn 12
Dong Ket 12
Hangzhou 12
Tianjin 12
Belo Horizonte 11
Denver 11
Falkenstein 11
Mexico City 11
Norwalk 11
Changsha 10
Jinan 10
Montreal 10
Philadelphia 10
Phoenix 10
Redwood City 10
Bologna 9
Chennai 9
Roubaix 9
Seattle 9
Turin 9
Ariano Irpino 8
Charlotte 8
Ercolano 8
Genoa 8
Guayaquil 8
Jakarta 8
Johannesburg 8
Nanchang 8
Ninh Bình 8
Parma 8
Stockholm 8
Zhengzhou 8
Biên Hòa 7
Bogotá 7
Falls Church 7
Totale 10.034
Salva come PNG Salva come JPEG
Nome #
Mystery(n) Phenotypic Presentation in Europeans: Report of Three Further Novel Missense RNF213 Variants Leading to Severe Syndromic Forms of Moyamoya Angiopathy and Literature Review 251
Expanding the phenotype of RTTN variations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis 195
A Missense Mutation in CASK Causes FG Syndrome in an Italian Family. 187
Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes 186
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders 184
Genome-Based Advances in Modelling Renal Ciliopathies and Enhancing Patient Care 182
A novel diagnostic method to detect truncated neurofibromin in Neurofibromatosis 1 180
La neurofibromatosi di Tipo 1 in età pediatrica 175
The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients. 175
Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene 172
A novel MEIS2 mutation explains the complex phenotype in a boy with a typical NF1 microdeletion syndrome 172
Identification and characterization of a novel member of the dystrobrevin gene family 171
Identification of the Syrian hamster cardiomyopathy gene 171
Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation 171
LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies. 170
A Novel 12q13.2-q13.3 Microdeletion Syndrome With Combined Features of Diamond Blackfan Anemia, Pierre Robin Sequence and Klippel Feil Deformity 170
A Translational Approach to Spinal Neurofibromatosis: Clinical and Molecular Insights from a Wide Italian Cohort 168
Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype 164
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276 and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1 160
Candidate-gene testing for orphan limb-girdle muscular dystrophies 159
O.17 Mutation spectrum of limb-girdle muscular dystrophies by New Generation Sequencing approaches 159
Assessment of de novo copy-number variations in Italian patients with schizophrenia: Detection of putative mutations involving regulatory enhancer elements 159
Gamma1- and gamma2-syntrophins, two novel dystrophin-binding proteins localized in neuronal cells 158
Arg(1809) substitution in neurofibromin: further evidence of a genotype-phenotype correlation in neurofibromatosis type 1 158
A novel SHANK3 interstitial microdeletion in a family with intellectual disability and brain MRI abnormalities resembling Unidentified Bright Objects 157
G.O.7 Multiple genetic variations in limb-girdle muscular dystrophies 157
Alu-Mediated Insertions in the DMD Gene: A Difficult Puzzle to Interpret Clinically 156
Identification of a DNA binding protein cooperating with estrogen receptor as RIZ (retinoblastoma interacting zinc finger protein) 156
Spectrum of Genetic Variants in the Dystrophin Gene: A Single Centre Retrospective Analysis of 750 Duchenne and Becker Patients from Southern Italy 155
Neurofibromatosis Type 1: Pediatric Aspects and Review of Genotype-Phenotype Correlations 155
Interaction of vault particles with estrogen receptor in the MCF-7 breast cancer cell 155
P2.27 Full exome resequencing by next generation sequencing (NGS) combined with chip analysis for the genetic testing of unclassified myopathic patients 155
An interconnected data infrastructure to support large-scale rare disease research 154
Novel mutations in LMNA A/C gene and associated phenotypes 154
Double carrier status in CANP3 and beta-sarcoglycan genes results in a mild disease phenotype 154
A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report 154
Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein 153
Gene redundancies in the dystrophin-associated protein complex 153
Aspetti clinici, genetici ed epidemiologici delleDistrofie muscolari dei Cingoli nel Sud Italia 153
UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism 153
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling 152
Worsening of cardiomyopathy using deflazacort in an animal model rescued by gene therapy 152
P.P.6 02 Cardiac and respiratory involvement in autosomal recessive limb-girdle muscular dystrophies 151
Multiple spinal nerve enlargement and SOS1 mutation: further evidence of overlap between Neurofibromatosis type 1 and Noonan phenotype 150
CKD in Bardet-Biedl Syndrome: Evidence Supporting Multifactorial Etiology 149
Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease 149
Analysis of caveolin-3 (CAV-3) gene in patients with limb-girdle muscular dystrophies and/or isolated hyperCKemia 149
Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1 149
A Novel Homozygous Loss-of-Function Variant in SPRED2 Causes Autosomal Recessive Noonan-like Syndrome 148
Dystrophin gene scanning by DHPLC of DMD carriers without deletions or duplications 148
The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene 148
SSCP detection of novel mutations in patients with Emery-Dreifuss muscular dystrophy: definition of a small C-terminal region required for emerin function 147
Multiple heterozygosity for different muscle genes is not rare among individuals with pauci-symptomatic hyperCKemia 144
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing 143
Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint (European Journal of Human Genetics, (2021), 29, 9, (1332-1336), 10.1038/s41431-021-00901-1) 143
Giant thrombosed intracavernous carotid artery aneurysm presenting as Tolosa–Hunt syndrome in a patient harboring a new pathogenic neurofibromatosis type 1 mutation: a case report and review of the literature. 141
Combined deficiency of alpha and epsilon sarcoglycan disrupts the cardiac dystrophin complex. 141
Enhancer chip: detecting human copy number variations in regulatory elements. 141
A new genetic cause of spastic ataxia: the p.Glu415Lys variant in TUBA4A 140
Are SHROOM4 loss-of-function variants pathogenic? 140
An atypical Aymé-Gripp phenotype detected by exome sequencing 140
Linked-Read Whole Genome Sequencing Solves a Double DMD Gene Rearrangement 140
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses 139
Intermittent macrothrombocytopenia in a novel patient with Takenouchi-Kosaki syndrome and review of literature. 139
Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome 137
An Italian case of hereditary myopathy with early respiratory failure (HMERF) not associated with the titin kinase domain R279W mutation 137
Studio retrospettivo sulle complicanze emato-oncologiche nella neurofibromatosi tipo 1 in età pediatrica 136
G.P.4.03 Mutations in the lamin A/C gene: An emergent cause of fatal arrhythmias in congenital muscular dystrophies 136
Seizures in children with neurofibromatosis type 1: Is neurofibromatosis type 1 enough? 135
Reliable resequencing of the human dystrophin locus by universal long polymerase chain reaction and massive pyrosequencing 134
Expanding the Neuroradiological Phenotype of 18q Deletion Syndrome. 133
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules 133
INTERACTION OF ESTROGEN RECEPTOR α WITH THE RETINOBLASTOMA-INTERACTING-ZING-FINGER GENE PRODUCT RIZ 132
P3.14 New AAVs for the muscle gene therapy in sarcoglycan deficient animals 132
The retinoblastoma-interacting zinc-finger protein RIZ is a downstream effector of estrogen action 131
Next generation sequencing applications are ready for genetic diagnosis of muscular dystrophies. 131
Essential Quality Analysis Criteria in Forensic Genetics Identification: A Position Statement of Italian Society of Human Genetics 131
A Novel Missense Variant in LHX4 in Three Children with Multiple Pituitary Hormone Deficiency Belonging to Two Unrelated Families and Contribution of Additional GLI2 and IGFR1 Variant 131
Le Distrofie dei Cingoli autosomiche recessive: calpainopatie e disferlinopatie 130
The fourth component of the sarcoglycan complex 130
Molecular and Muscle Pathology in a series of Caveolinopathy patients 129
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14 128
Moyamoya syndrome in children with neurofibromatosis type 1: Italian-French experience 127
Gentamicin administration in Duchenne patients with premature stop codon. Preliminary results 126
Heart involvement in Emery-Dreifuss muscular dystrophies: new parameters to detect early atrial fibrosis and vulnerability 126
Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers 126
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing 125
Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings 125
Enhancing cyst-like lesions of the white matter in tuberous sclerosis complex: a novel neuroradiological finding 122
Deletion Testing of the DEGS1 Gene Should Be Part of the Diagnostic Pipeline for Hypomyelinating Leukodystrophy (HLD18) 121
T.O. 6 Systemic delta-sarcoglycan gene transfer into cardiomyopathic BIO14.6 hamsters by AAV 121
Patients carrying Arg1809 substitution with no choroidal abnormalities: a further proof of a "Quasi-Incomplete" NF1 phenotype 119
G.P.10.11 T-CAP, the gene responsible for LGMD2G, may interact with dysferlin 119
Motor Chip: a Comparative Genomic Hybridization Microarray for Copy-Number Mutations in 245 Neuromuscular Disorders 117
Improvement of survival in Duchenne Muscular Dystrophy: retrospective analysis of 835 patients 115
Spectrum of muscular dystrophies associated with sarcolemmal-protein genetic defects 114
Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F 114
Familial Trisomy 6p in Mother and Daughter 114
Identification of an intragenic deletion in the SGCB gene through a re-evaluation of negative next generation sequencing results 114
Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients 114
Totale 14.699
Salva come PNG Salva come JPEG
Categoria #
all - tutte 64.563
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 64.563
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022690 0 0 0 16 233 15 26 21 22 84 64 209
2022/20231.789 134 65 21 158 196 129 14 102 875 19 34 42
2023/2024607 53 26 39 50 205 35 19 11 4 8 59 98
2024/20252.270 7 21 27 43 400 327 355 178 279 244 211 178
2025/20269.980 420 537 479 435 889 5.455 519 352 366 198 207 123
2026/20271.882 76 407 729 670 0 0 0 0 0 0 0 0
Totale 19.547