IRIS
PILUSO, Giulio
 Distribuzione geografica
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Continente #
EU - Europa 9.015
NA - Nord America 4.372
AS - Asia 3.611
SA - Sud America 556
Continente sconosciuto - Info sul continente non disponibili 353
AF - Africa 50
OC - Oceania 2
Totale 17.959
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Nazione #
RU - Federazione Russa 5.890
US - Stati Uniti d'America 4.283
SG - Singapore 1.225
IE - Irlanda 915
CN - Cina 776
IT - Italia 662
HK - Hong Kong 515
VN - Vietnam 461
BR - Brasile 446
UA - Ucraina 349
GB - Regno Unito 335
DE - Germania 281
KR - Corea 189
FR - Francia 171
IN - India 110
FI - Finlandia 107
JP - Giappone 88
SE - Svezia 80
BD - Bangladesh 79
TR - Turchia 58
GR - Grecia 55
AR - Argentina 52
CA - Canada 41
NL - Olanda 41
MX - Messico 28
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 11
PH - Filippine 10
SA - Arabia Saudita 10
PY - Paraguay 9
CZ - Repubblica Ceca 8
MA - Marocco 8
EU - Europa 7
UZ - Uzbekistan 7
DZ - Algeria 6
JO - Giordania 6
PE - Perù 6
LT - Lituania 5
OM - Oman 5
TN - Tunisia 5
AE - Emirati Arabi Uniti 4
CI - Costa d'Avorio 4
CL - Cile 4
DO - Repubblica Dominicana 4
RO - Romania 4
TH - Thailandia 4
UY - Uruguay 4
AL - Albania 3
BA - Bosnia-Erzegovina 3
CH - Svizzera 3
JM - Giamaica 3
NP - Nepal 3
PT - Portogallo 3
VE - Venezuela 3
BH - Bahrain 2
CR - Costa Rica 2
DK - Danimarca 2
EE - Estonia 2
EG - Egitto 2
HN - Honduras 2
IL - Israele 2
KE - Kenya 2
KZ - Kazakistan 2
LB - Libano 2
PA - Panama 2
RS - Serbia 2
SK - Slovacchia (Repubblica Slovacca) 2
TT - Trinidad e Tobago 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
CM - Camerun 1
GT - Guatemala 1
HU - Ungheria 1
IM - Isola di Man 1
KW - Kuwait 1
LV - Lettonia 1
LY - Libia 1
NG - Nigeria 1
NI - Nicaragua 1
NO - Norvegia 1
NZ - Nuova Zelanda 1
PR - Porto Rico 1
SI - Slovenia 1
SR - Suriname 1
SV - El Salvador 1
SY - Repubblica araba siriana 1
TG - Togo 1
Totale 17.613
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Città #
Moscow 2.116
Dublin 914
Singapore 564
Santa Clara 547
Jacksonville 532
Hong Kong 503
Chandler 485
San Jose 399
Ashburn 226
Seoul 179
Ho Chi Minh City 166
Hefei 115
Princeton 111
Hanoi 98
Caserta 97
Beijing 91
Ann Arbor 89
Naples 87
Medford 86
Bremen 82
Boardman 76
Roxbury 76
Bengaluru 70
New York 69
Woodbridge 63
Dallas 59
Los Angeles 54
Wilmington 53
The Dalles 44
Aversa 43
Cambridge 38
San Mateo 38
Munich 32
São Paulo 30
Da Nang 29
Amsterdam 27
Milan 27
Des Moines 25
Haiphong 23
Mountain View 22
Napoli 21
Nuremberg 21
Warsaw 21
Chicago 20
Council Bluffs 19
Düsseldorf 19
Helsinki 19
Nanjing 19
Rio de Janeiro 19
Rome 19
Brussels 17
Guangzhou 17
Atlanta 16
Tokyo 16
Boston 15
Casoria 15
Shenyang 15
Vienna 15
Auburn Hills 14
Frankfurt am Main 13
Houston 13
London 13
Dong Ket 12
Hangzhou 12
Tianjin 12
Belo Horizonte 11
Falkenstein 11
Mexico City 11
Norwalk 11
Brooklyn 10
Changsha 10
Jinan 10
Redwood City 10
Toronto 10
Chennai 9
Roubaix 9
Ariano Irpino 8
Ercolano 8
Genoa 8
Guayaquil 8
Jakarta 8
Johannesburg 8
Nanchang 8
Ninh Bình 8
Parma 8
Seattle 8
Stockholm 8
Zhengzhou 8
Biên Hòa 7
Bologna 7
Falls Church 7
Lappeenranta 7
Manchester 7
Memphis 7
Montreal 7
Porto Alegre 7
Afragola 6
Amman 6
Bogotá 6
Brno 6
Totale 9.085
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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 237
Expanding the phenotype of RTTN variations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis 186
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders 177
Genome-Based Advances in Modelling Renal Ciliopathies and Enhancing Patient Care 174
A Missense Mutation in CASK Causes FG Syndrome in an Italian Family. 173
A novel diagnostic method to detect truncated neurofibromin in Neurofibromatosis 1 169
Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes 165
Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene 165
The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients. 164
A novel MEIS2 mutation explains the complex phenotype in a boy with a typical NF1 microdeletion syndrome 163
Identification and characterization of a novel member of the dystrobrevin gene family 161
A Novel 12q13.2-q13.3 Microdeletion Syndrome With Combined Features of Diamond Blackfan Anemia, Pierre Robin Sequence and Klippel Feil Deformity 160
Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation 160
LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies. 158
La neurofibromatosi di Tipo 1 in età pediatrica 157
Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype 155
A Translational Approach to Spinal Neurofibromatosis: Clinical and Molecular Insights from a Wide Italian Cohort 152
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276 and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1 150
A novel SHANK3 interstitial microdeletion in a family with intellectual disability and brain MRI abnormalities resembling Unidentified Bright Objects 150
G.O.7 Multiple genetic variations in limb-girdle muscular dystrophies 150
Assessment of de novo copy-number variations in Italian patients with schizophrenia: Detection of putative mutations involving regulatory enhancer elements 150
Candidate-gene testing for orphan limb-girdle muscular dystrophies 149
Gamma1- and gamma2-syntrophins, two novel dystrophin-binding proteins localized in neuronal cells 149
Identification of the Syrian hamster cardiomyopathy gene 149
Double carrier status in CANP3 and beta-sarcoglycan genes results in a mild disease phenotype 148
Gene redundancies in the dystrophin-associated protein complex 147
O.17 Mutation spectrum of limb-girdle muscular dystrophies by New Generation Sequencing approaches 147
A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report 147
Spectrum of Genetic Variants in the Dystrophin Gene: A Single Centre Retrospective Analysis of 750 Duchenne and Becker Patients from Southern Italy 146
Alu-Mediated Insertions in the DMD Gene: A Difficult Puzzle to Interpret Clinically 146
Neurofibromatosis Type 1: Pediatric Aspects and Review of Genotype-Phenotype Correlations 146
Novel mutations in LMNA A/C gene and associated phenotypes 146
Aspetti clinici, genetici ed epidemiologici delleDistrofie muscolari dei Cingoli nel Sud Italia 146
Arg(1809) substitution in neurofibromin: further evidence of a genotype-phenotype correlation in neurofibromatosis type 1 146
Interaction of vault particles with estrogen receptor in the MCF-7 breast cancer cell 144
Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein 144
Identification of a DNA binding protein cooperating with estrogen receptor as RIZ (retinoblastoma interacting zinc finger protein) 144
P2.27 Full exome resequencing by next generation sequencing (NGS) combined with chip analysis for the genetic testing of unclassified myopathic patients 144
Analysis of caveolin-3 (CAV-3) gene in patients with limb-girdle muscular dystrophies and/or isolated hyperCKemia 143
Dystrophin gene scanning by DHPLC of DMD carriers without deletions or duplications 142
P.P.6 02 Cardiac and respiratory involvement in autosomal recessive limb-girdle muscular dystrophies 142
An interconnected data infrastructure to support large-scale rare disease research 140
Worsening of cardiomyopathy using deflazacort in an animal model rescued by gene therapy 140
Multiple spinal nerve enlargement and SOS1 mutation: further evidence of overlap between Neurofibromatosis type 1 and Noonan phenotype 140
UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism 140
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling 138
Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease 138
Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1 137
SSCP detection of novel mutations in patients with Emery-Dreifuss muscular dystrophy: definition of a small C-terminal region required for emerin function 136
Multiple heterozygosity for different muscle genes is not rare among individuals with pauci-symptomatic hyperCKemia 135
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) 134
Are SHROOM4 loss-of-function variants pathogenic? 133
An atypical Aymé-Gripp phenotype detected by exome sequencing 133
CKD in Bardet-Biedl Syndrome: Evidence Supporting Multifactorial Etiology 133
A Novel Homozygous Loss-of-Function Variant in SPRED2 Causes Autosomal Recessive Noonan-like Syndrome 132
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing 132
A new genetic cause of spastic ataxia: the p.Glu415Lys variant in TUBA4A 131
Enhancer chip: detecting human copy number variations in regulatory elements. 131
The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene 131
An Italian case of hereditary myopathy with early respiratory failure (HMERF) not associated with the titin kinase domain R279W mutation 130
Combined deficiency of alpha and epsilon sarcoglycan disrupts the cardiac dystrophin complex. 130
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. 129
Linked-Read Whole Genome Sequencing Solves a Double DMD Gene Rearrangement 129
Studio retrospettivo sulle complicanze emato-oncologiche nella neurofibromatosi tipo 1 in età pediatrica 128
G.P.4.03 Mutations in the lamin A/C gene: An emergent cause of fatal arrhythmias in congenital muscular dystrophies 128
Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome 126
Seizures in children with neurofibromatosis type 1: Is neurofibromatosis type 1 enough? 126
Intermittent macrothrombocytopenia in a novel patient with Takenouchi-Kosaki syndrome and review of literature. 125
Reliable resequencing of the human dystrophin locus by universal long polymerase chain reaction and massive pyrosequencing 124
INTERACTION OF ESTROGEN RECEPTOR α WITH THE RETINOBLASTOMA-INTERACTING-ZING-FINGER GENE PRODUCT RIZ 124
P3.14 New AAVs for the muscle gene therapy in sarcoglycan deficient animals 124
Expanding the Neuroradiological Phenotype of 18q Deletion Syndrome. 123
Le Distrofie dei Cingoli autosomiche recessive: calpainopatie e disferlinopatie 122
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14 121
Next generation sequencing applications are ready for genetic diagnosis of muscular dystrophies. 121
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 120
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses 119
The retinoblastoma-interacting zinc-finger protein RIZ is a downstream effector of estrogen action 119
Moyamoya syndrome in children with neurofibromatosis type 1: Italian-French experience 119
Essential Quality Analysis Criteria in Forensic Genetics Identification: A Position Statement of Italian Society of Human Genetics 119
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules 119
Molecular and Muscle Pathology in a series of Caveolinopathy patients 118
The fourth component of the sarcoglycan complex 117
Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings 116
Heart involvement in Emery-Dreifuss muscular dystrophies: new parameters to detect early atrial fibrosis and vulnerability 115
Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers 114
T.O. 6 Systemic delta-sarcoglycan gene transfer into cardiomyopathic BIO14.6 hamsters by AAV 114
G.P.10.11 T-CAP, the gene responsible for LGMD2G, may interact with dysferlin 113
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing 112
Gentamicin administration in Duchenne patients with premature stop codon. Preliminary results 111
Patients carrying Arg1809 substitution with no choroidal abnormalities: a further proof of a "Quasi-Incomplete" NF1 phenotype 110
Deletion Testing of the DEGS1 Gene Should Be Part of the Diagnostic Pipeline for Hypomyelinating Leukodystrophy (HLD18) 109
Identification of an intragenic deletion in the SGCB gene through a re-evaluation of negative next generation sequencing results 109
Enhancing cyst-like lesions of the white matter in tuberous sclerosis complex: a novel neuroradiological finding 108
Spectrum of muscular dystrophies associated with sarcolemmal-protein genetic defects 107
Identification and analysis of candidate genes for Limb-Girdle Muscular Dystrophies 107
Improvement of survival in Duchenne Muscular Dystrophy: retrospective analysis of 835 patients 106
Familial Trisomy 6p in Mother and Daughter 106
Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F 105
Motor Chip: a Comparative Genomic Hybridization Microarray for Copy-Number Mutations in 245 Neuromuscular Disorders 104
Totale 13.651
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Categoria #
all - tutte 60.095
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 60.095
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022708 0 7 11 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
2026/2027294 76 218 0 0 0 0 0 0 0 0 0 0
Totale 17.959