IRIS
PILUSO, Giulio
 Distribuzione geografica
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Continente #
EU - Europa 8.906
NA - Nord America 3.941
AS - Asia 3.489
SA - Sud America 551
AF - Africa 50
Continente sconosciuto - Info sul continente non disponibili 9
OC - Oceania 2
Totale 16.948
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Nazione #
RU - Federazione Russa 5.890
US - Stati Uniti d'America 3.873
SG - Singapore 1.183
IE - Irlanda 915
CN - Cina 751
IT - Italia 583
HK - Hong Kong 509
VN - Vietnam 461
BR - Brasile 445
UA - Ucraina 349
GB - Regno Unito 325
DE - Germania 280
KR - Corea 189
FR - Francia 168
IN - India 109
FI - Finlandia 107
JP - Giappone 86
SE - Svezia 77
TR - Turchia 58
GR - Grecia 55
AR - Argentina 51
BD - Bangladesh 35
NL - Olanda 35
CA - Canada 29
MX - Messico 27
PL - Polonia 26
AT - Austria 23
EC - Ecuador 20
BE - Belgio 19
ID - Indonesia 18
ZA - Sudafrica 18
ES - Italia 16
PK - Pakistan 15
IQ - Iraq 13
CO - Colombia 11
PH - Filippine 10
SA - Arabia Saudita 10
PY - Paraguay 9
MA - Marocco 8
CZ - Repubblica Ceca 7
EU - Europa 7
UZ - Uzbekistan 7
DZ - Algeria 6
JO - Giordania 6
OM - Oman 5
PE - Perù 5
TN - Tunisia 5
AE - Emirati Arabi Uniti 4
CI - Costa d'Avorio 4
DO - Repubblica Dominicana 4
LT - Lituania 4
TH - Thailandia 4
AL - Albania 3
BA - Bosnia-Erzegovina 3
CL - Cile 3
PT - Portogallo 3
RO - Romania 3
UY - Uruguay 3
VE - Venezuela 3
BH - Bahrain 2
DK - Danimarca 2
EE - Estonia 2
EG - Egitto 2
HN - Honduras 2
IL - Israele 2
JM - Giamaica 2
KE - Kenya 2
KZ - Kazakistan 2
LB - Libano 2
NP - Nepal 2
PA - Panama 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
BG - Bulgaria 1
BN - Brunei Darussalam 1
CH - Svizzera 1
CM - Camerun 1
HU - Ungheria 1
IM - Isola di Man 1
KW - Kuwait 1
LV - Lettonia 1
LY - Libia 1
NG - Nigeria 1
NO - Norvegia 1
NZ - Nuova Zelanda 1
SI - Slovenia 1
SR - Suriname 1
SV - El Salvador 1
SY - Repubblica araba siriana 1
TG - Togo 1
TL - Timor Orientale 1
TT - Trinidad e Tobago 1
ZW - Zimbabwe 1
Totale 16.948
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Città #
Moscow 2.116
Dublin 914
Singapore 558
Jacksonville 529
Santa Clara 526
Hong Kong 498
Chandler 485
San Jose 316
Seoul 179
Ashburn 176
Ho Chi Minh City 166
Hefei 115
Princeton 111
Hanoi 98
Caserta 97
Ann Arbor 89
Medford 86
Bremen 82
Beijing 80
Naples 78
Boardman 76
Roxbury 76
Bengaluru 70
Woodbridge 63
New York 56
Wilmington 53
Dallas 51
Los Angeles 47
The Dalles 44
Aversa 41
Cambridge 38
San Mateo 38
Munich 32
São Paulo 30
Da Nang 29
Amsterdam 25
Des Moines 25
Haiphong 23
Milan 23
Mountain View 22
Napoli 21
Nuremberg 21
Warsaw 21
Düsseldorf 19
Helsinki 19
Nanjing 19
Rio de Janeiro 19
Brussels 17
Guangzhou 17
Rome 16
Casoria 15
Chicago 15
Shenyang 15
Tokyo 15
Vienna 15
Auburn Hills 14
Boston 14
Atlanta 13
London 13
Dong Ket 12
Frankfurt am Main 12
Hangzhou 12
Tianjin 12
Belo Horizonte 11
Falkenstein 11
Norwalk 11
Changsha 10
Jinan 10
Mexico City 10
Redwood City 10
Chennai 9
Houston 9
Roubaix 9
Toronto 9
Ariano Irpino 8
Brooklyn 8
Council Bluffs 8
Ercolano 8
Genoa 8
Guayaquil 8
Jakarta 8
Johannesburg 8
Nanchang 8
Ninh Bình 8
Parma 8
Zhengzhou 8
Biên Hòa 7
Falls Church 7
Lappeenranta 7
Manchester 7
Porto Alegre 7
Afragola 6
Amman 6
Bogotá 6
Brno 6
Bến Tre 6
Haikou 6
Hebei 6
Jeddah 6
Montreal 6
Totale 8.821
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Nome #
Expanding the phenotype of RTTN variations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis 176
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders 174
A Missense Mutation in CASK Causes FG Syndrome in an Italian Family. 171
A novel diagnostic method to detect truncated neurofibromin in Neurofibromatosis 1 168
The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients. 163
Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene 162
Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes 161
A novel MEIS2 mutation explains the complex phenotype in a boy with a typical NF1 microdeletion syndrome 160
Identification and characterization of a novel member of the dystrobrevin gene family 159
LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies. 154
A Novel 12q13.2-q13.3 Microdeletion Syndrome With Combined Features of Diamond Blackfan Anemia, Pierre Robin Sequence and Klippel Feil Deformity 154
Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation 154
Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype 153
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276 and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1 148
Gamma1- and gamma2-syntrophins, two novel dystrophin-binding proteins localized in neuronal cells 147
Double carrier status in CANP3 and beta-sarcoglycan genes results in a mild disease phenotype 147
Assessment of de novo copy-number variations in Italian patients with schizophrenia: Detection of putative mutations involving regulatory enhancer elements 147
A Translational Approach to Spinal Neurofibromatosis: Clinical and Molecular Insights from a Wide Italian Cohort 146
Candidate-gene testing for orphan limb-girdle muscular dystrophies 146
Novel mutations in LMNA A/C gene and associated phenotypes 146
A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report 145
Alu-Mediated Insertions in the DMD Gene: A Difficult Puzzle to Interpret Clinically 144
Aspetti clinici, genetici ed epidemiologici delleDistrofie muscolari dei Cingoli nel Sud Italia 144
Arg(1809) substitution in neurofibromin: further evidence of a genotype-phenotype correlation in neurofibromatosis type 1 144
G.O.7 Multiple genetic variations in limb-girdle muscular dystrophies 144
Gene redundancies in the dystrophin-associated protein complex 143
A novel SHANK3 interstitial microdeletion in a family with intellectual disability and brain MRI abnormalities resembling Unidentified Bright Objects 143
O.17 Mutation spectrum of limb-girdle muscular dystrophies by New Generation Sequencing approaches 143
Spectrum of Genetic Variants in the Dystrophin Gene: A Single Centre Retrospective Analysis of 750 Duchenne and Becker Patients from Southern Italy 142
Neurofibromatosis Type 1: Pediatric Aspects and Review of Genotype-Phenotype Correlations 142
Identification of the Syrian hamster cardiomyopathy gene 142
P2.27 Full exome resequencing by next generation sequencing (NGS) combined with chip analysis for the genetic testing of unclassified myopathic patients 142
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 140
Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein 140
Interaction of vault particles with estrogen receptor in the MCF-7 breast cancer cell 139
Identification of a DNA binding protein cooperating with estrogen receptor as RIZ (retinoblastoma interacting zinc finger protein) 139
Dystrophin gene scanning by DHPLC of DMD carriers without deletions or duplications 138
Analysis of caveolin-3 (CAV-3) gene in patients with limb-girdle muscular dystrophies and/or isolated hyperCKemia 138
Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease 137
Multiple spinal nerve enlargement and SOS1 mutation: further evidence of overlap between Neurofibromatosis type 1 and Noonan phenotype 137
UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism 137
An interconnected data infrastructure to support large-scale rare disease research 136
P.P.6 02 Cardiac and respiratory involvement in autosomal recessive limb-girdle muscular dystrophies 136
SSCP detection of novel mutations in patients with Emery-Dreifuss muscular dystrophy: definition of a small C-terminal region required for emerin function 135
Worsening of cardiomyopathy using deflazacort in an animal model rescued by gene therapy 135
Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1 134
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling 132
Multiple heterozygosity for different muscle genes is not rare among individuals with pauci-symptomatic hyperCKemia 132
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) 132
Are SHROOM4 loss-of-function variants pathogenic? 130
An atypical Aymé-Gripp phenotype detected by exome sequencing 130
Enhancer chip: detecting human copy number variations in regulatory elements. 130
Combined deficiency of alpha and epsilon sarcoglycan disrupts the cardiac dystrophin complex. 129
La neurofibromatosi di Tipo 1 in età pediatrica 128
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing 128
An Italian case of hereditary myopathy with early respiratory failure (HMERF) not associated with the titin kinase domain R279W mutation 128
The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene 128
A Novel Homozygous Loss-of-Function Variant in SPRED2 Causes Autosomal Recessive Noonan-like Syndrome 127
A new genetic cause of spastic ataxia: the p.Glu415Lys variant in TUBA4A 127
CKD in Bardet-Biedl Syndrome: Evidence Supporting Multifactorial Etiology 126
Linked-Read Whole Genome Sequencing Solves a Double DMD Gene Rearrangement 126
Studio retrospettivo sulle complicanze emato-oncologiche nella neurofibromatosi tipo 1 in età pediatrica 125
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. 124
Seizures in children with neurofibromatosis type 1: Is neurofibromatosis type 1 enough? 122
Intermittent macrothrombocytopenia in a novel patient with Takenouchi-Kosaki syndrome and review of literature. 122
Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome 120
Le Distrofie dei Cingoli autosomiche recessive: calpainopatie e disferlinopatie 120
INTERACTION OF ESTROGEN RECEPTOR α WITH THE RETINOBLASTOMA-INTERACTING-ZING-FINGER GENE PRODUCT RIZ 120
P3.14 New AAVs for the muscle gene therapy in sarcoglycan deficient animals 120
Next generation sequencing applications are ready for genetic diagnosis of muscular dystrophies. 119
G.P.4.03 Mutations in the lamin A/C gene: An emergent cause of fatal arrhythmias in congenital muscular dystrophies 119
Expanding the Neuroradiological Phenotype of 18q Deletion Syndrome. 119
Reliable resequencing of the human dystrophin locus by universal long polymerase chain reaction and massive pyrosequencing 118
Essential Quality Analysis Criteria in Forensic Genetics Identification: A Position Statement of Italian Society of Human Genetics 118
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14 117
The fourth component of the sarcoglycan complex 117
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses 116
Molecular and Muscle Pathology in a series of Caveolinopathy patients 116
The retinoblastoma-interacting zinc-finger protein RIZ is a downstream effector of estrogen action 116
Heart involvement in Emery-Dreifuss muscular dystrophies: new parameters to detect early atrial fibrosis and vulnerability 115
Moyamoya syndrome in children with neurofibromatosis type 1: Italian-French experience 115
Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings 115
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules 115
Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers 113
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 113
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing 112
T.O. 6 Systemic delta-sarcoglycan gene transfer into cardiomyopathic BIO14.6 hamsters by AAV 111
G.P.10.11 T-CAP, the gene responsible for LGMD2G, may interact with dysferlin 110
Identification of an intragenic deletion in the SGCB gene through a re-evaluation of negative next generation sequencing results 108
Spectrum of muscular dystrophies associated with sarcolemmal-protein genetic defects 107
Gentamicin administration in Duchenne patients with premature stop codon. Preliminary results 107
Deletion Testing of the DEGS1 Gene Should Be Part of the Diagnostic Pipeline for Hypomyelinating Leukodystrophy (HLD18) 106
Identification and analysis of candidate genes for Limb-Girdle Muscular Dystrophies 106
Patients carrying Arg1809 substitution with no choroidal abnormalities: a further proof of a "Quasi-Incomplete" NF1 phenotype 105
Familial Trisomy 6p in Mother and Daughter 105
Motor Chip: a Comparative Genomic Hybridization Microarray for Copy-Number Mutations in 245 Neuromuscular Disorders 103
Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients 102
Improvement of survival in Duchenne Muscular Dystrophy: retrospective analysis of 835 patients 101
Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F 101
Identification of a functional estrogen-responsive enhancer element in the promoter 2 of PRDM2 gene in breast cancer cell lines 101
Totale 13.127
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Categoria #
all - tutte 54.262
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 54.262
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021208 0 0 0 0 0 0 0 0 0 95 76 37
2021/2022755 47 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
2025/20269.604 420 537 479 435 889 5.455 519 352 366 152 0 0
Totale 17.289