IRIS
PILUSO, Giulio
 Distribuzione geografica
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Continente #
NA - Nord America 2.911
EU - Europa 2.699
AS - Asia 1.182
SA - Sud America 170
AF - Africa 13
Continente sconosciuto - Info sul continente non disponibili 8
OC - Oceania 2
Totale 6.985
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Nazione #
US - Stati Uniti d'America 2.896
IE - Irlanda 914
IT - Italia 481
HK - Hong Kong 453
SG - Singapore 423
UA - Ucraina 343
GB - Regno Unito 287
DE - Germania 245
CN - Cina 174
BR - Brasile 145
FR - Francia 119
FI - Finlandia 98
SE - Svezia 74
GR - Grecia 55
TR - Turchia 54
KR - Corea 20
BE - Belgio 19
AR - Argentina 13
AT - Austria 13
NL - Olanda 13
VN - Vietnam 12
IN - India 9
PK - Pakistan 8
CA - Canada 7
CZ - Repubblica Ceca 7
EU - Europa 7
ID - Indonesia 7
EC - Ecuador 6
PL - Polonia 6
RU - Federazione Russa 6
ZA - Sudafrica 5
BD - Bangladesh 4
ES - Italia 4
MA - Marocco 4
MX - Messico 4
UZ - Uzbekistan 4
CO - Colombia 3
IQ - Iraq 3
EE - Estonia 2
HN - Honduras 2
JM - Giamaica 2
JP - Giappone 2
RO - Romania 2
SA - Arabia Saudita 2
SK - Slovacchia (Repubblica Slovacca) 2
TN - Tunisia 2
AE - Emirati Arabi Uniti 1
AL - Albania 1
AM - Armenia 1
AU - Australia 1
BN - Brunei Darussalam 1
CH - Svizzera 1
CL - Cile 1
DK - Danimarca 1
DZ - Algeria 1
EG - Egitto 1
IM - Isola di Man 1
JO - Giordania 1
KZ - Kazakistan 1
LB - Libano 1
LT - Lituania 1
LV - Lettonia 1
NO - Norvegia 1
NZ - Nuova Zelanda 1
PE - Perù 1
PH - Filippine 1
PT - Portogallo 1
RS - Serbia 1
UY - Uruguay 1
XK - ???statistics.table.value.countryCode.XK??? 1
Totale 6.985
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Città #
Dublin 913
Jacksonville 529
Santa Clara 508
Chandler 485
Hong Kong 450
Singapore 128
Princeton 111
Caserta 97
Ann Arbor 89
Medford 86
Bremen 82
Boardman 76
Roxbury 76
Woodbridge 63
Wilmington 53
Naples 52
Aversa 41
Cambridge 38
San Mateo 38
The Dalles 37
Beijing 30
New York 26
Des Moines 24
Mountain View 22
Napoli 21
Ashburn 20
Düsseldorf 19
Nanjing 19
Munich 18
Brussels 17
Los Angeles 17
Casoria 15
Auburn Hills 14
Helsinki 14
Nuremberg 14
Shenyang 14
Dong Ket 12
Rome 12
Seoul 12
Milan 11
Norwalk 11
Falkenstein 10
Redwood City 10
Jinan 9
Vienna 9
Ariano Irpino 8
Ercolano 8
Nanchang 8
Falls Church 7
Houston 7
Lappeenranta 7
Rio de Janeiro 7
Brno 6
Haikou 6
Hebei 6
Ningbo 6
Parma 6
Catania 5
Scafati 5
Tianjin 5
Afragola 4
Amsterdam 4
Chicago 4
Guangzhou 4
Hangzhou 4
Jakarta 4
Laives 4
Lanzhou 4
London 4
Pune 4
San Felice A Cancello 4
São Paulo 4
Taiyuan 4
Tashkent 4
Trieste 4
Zhengzhou 4
Agropoli 3
Bellmawr 3
Belo Horizonte 3
Buenos Aires 3
Coatesville 3
Curitiba 3
Delhi 3
King's Lynn 3
Newark 3
North Bergen 3
Palmi 3
Pignataro Maggiore 3
Pozzuoli 3
San Jose 3
Seattle 3
Shanghai 3
São José do Rio Preto 3
Taizhou 3
Toronto 3
Valenzano 3
Andover 2
Bandung 2
Bogotá 2
Bologna 2
Totale 4.581
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Nome #
Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes 92
Identification and characterization of a novel member of the dystrobrevin gene family 85
Novel mutations in LMNA A/C gene and associated phenotypes 85
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders 84
Expanding the phenotype of RTTN variations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis 84
Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene 83
Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation 83
A Missense Mutation in CASK Causes FG Syndrome in an Italian Family. 82
Worsening of cardiomyopathy using deflazacort in an animal model rescued by gene therapy 80
SSCP detection of novel mutations in patients with Emery-Dreifuss muscular dystrophy: definition of a small C-terminal region required for emerin function 79
LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies. 79
Arg(1809) substitution in neurofibromin: further evidence of a genotype-phenotype correlation in neurofibromatosis type 1 76
Reliable resequencing of the human dystrophin locus by universal long polymerase chain reaction and massive pyrosequencing 75
Multiple heterozygosity for different muscle genes is not rare among individuals with pauci-symptomatic hyperCKemia 75
Enhancer chip: detecting human copy number variations in regulatory elements. 75
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. 74
Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein 74
The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients. 73
Interaction of vault particles with estrogen receptor in the MCF-7 breast cancer cell 72
Candidate-gene testing for orphan limb-girdle muscular dystrophies 71
The fourth component of the sarcoglycan complex 71
Identification of the Syrian hamster cardiomyopathy gene 71
Next generation sequencing applications are ready for genetic diagnosis of muscular dystrophies. 71
A novel diagnostic method to detect truncated neurofibromin in Neurofibromatosis 1 71
Combined deficiency of alpha and epsilon sarcoglycan disrupts the cardiac dystrophin complex. 70
G.O.7 Multiple genetic variations in limb-girdle muscular dystrophies 70
Le Distrofie dei Cingoli autosomiche recessive: calpainopatie e disferlinopatie 69
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276 and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1 69
UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism 69
Double carrier status in CANP3 and beta-sarcoglycan genes results in a mild disease phenotype 68
Seizures in children with neurofibromatosis type 1: Is neurofibromatosis type 1 enough? 67
A novel MEIS2 mutation explains the complex phenotype in a boy with a typical NF1 microdeletion syndrome 67
Dystrophin gene scanning by DHPLC of DMD carriers without deletions or duplications 66
Gene redundancies in the dystrophin-associated protein complex 66
Heart involvement in Emery-Dreifuss muscular dystrophies: new parameters to detect early atrial fibrosis and vulnerability 66
Studio retrospettivo sulle complicanze emato-oncologiche nella neurofibromatosi tipo 1 in età pediatrica 66
Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers 65
Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1 65
A Novel 12q13.2-q13.3 Microdeletion Syndrome With Combined Features of Diamond Blackfan Anemia, Pierre Robin Sequence and Klippel Feil Deformity 65
INTERACTION OF ESTROGEN RECEPTOR α WITH THE RETINOBLASTOMA-INTERACTING-ZING-FINGER GENE PRODUCT RIZ 64
Multiple spinal nerve enlargement and SOS1 mutation: further evidence of overlap between Neurofibromatosis type 1 and Noonan phenotype 64
Assessment of de novo copy-number variations in Italian patients with schizophrenia: Detection of putative mutations involving regulatory enhancer elements 64
Molecular and Muscle Pathology in a series of Caveolinopathy patients 63
Gamma1- and gamma2-syntrophins, two novel dystrophin-binding proteins localized in neuronal cells 63
A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report 63
Identification of a DNA binding protein cooperating with estrogen receptor as RIZ (retinoblastoma interacting zinc finger protein) 62
Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease 62
An Italian case of hereditary myopathy with early respiratory failure (HMERF) not associated with the titin kinase domain R279W mutation 61
O.17 Mutation spectrum of limb-girdle muscular dystrophies by New Generation Sequencing approaches 61
Analysis of caveolin-3 (CAV-3) gene in patients with limb-girdle muscular dystrophies and/or isolated hyperCKemia 60
Le conseil genetique dans les dystrophies musculaires: resultats de 10 ans d'approche moleculaire 60
Aspetti clinici, genetici ed epidemiologici delleDistrofie muscolari dei Cingoli nel Sud Italia 60
Moyamoya syndrome in children with neurofibromatosis type 1: Italian-French experience 60
Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients 59
Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype 59
Gentamicin administration in Duchenne patients with premature stop codon. Preliminary results 58
A novel SHANK3 interstitial microdeletion in a family with intellectual disability and brain MRI abnormalities resembling Unidentified Bright Objects 58
Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in Croatia 57
Identification of an intragenic deletion in the SGCB gene through a re-evaluation of negative next generation sequencing results 57
P3.14 New AAVs for the muscle gene therapy in sarcoglycan deficient animals 57
P.P.6 02 Cardiac and respiratory involvement in autosomal recessive limb-girdle muscular dystrophies 57
Dilated cardiomyopathy caused by mutations in Calpain-3 gene 56
Familial Trisomy 6p in Mother and Daughter 56
The retinoblastoma-interacting zinc-finger protein RIZ is a downstream effector of estrogen action 55
One Hundred Twenty-One Dystrophin Point Mutations Detected from Stored DNA Samples by Combinatorial Denaturing High-Performance Liquid Chromatography. 54
Motor Chip: a Comparative Genomic Hybridization Microarray for Copy-Number Mutations in 245 Neuromuscular Disorders 54
P2.27 Full exome resequencing by next generation sequencing (NGS) combined with chip analysis for the genetic testing of unclassified myopathic patients 53
Intermittent macrothrombocytopenia in a novel patient with Takenouchi-Kosaki syndrome and review of literature. 53
A Translational Approach to Spinal Neurofibromatosis: Clinical and Molecular Insights from a Wide Italian Cohort 52
Dilated cardiomyopathy associated with mutations in delta-sarcoglycan gene. Report of two familial cases. 52
G.P.4.03 Mutations in the lamin A/C gene: An emergent cause of fatal arrhythmias in congenital muscular dystrophies 52
Different phenotypic expression in three related families with limb-girdle muscular dystrophy (LGMD2I) due to mutations in fukutin-related-protein gene 51
Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F 51
Novel missense mutations and unexpected multiple changes of RYR1 gene in 75 malignant hyperthermia families 51
Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions 51
Expanding the Neuroradiological Phenotype of 18q Deletion Syndrome. 51
Spectrum of muscular dystrophies associated with sarcolemmal-protein genetic defects 50
Use of a lower dosage liver-Detargeted AAV vector to prevent hamster muscular dystrophy. 50
T.O. 6 Systemic delta-sarcoglycan gene transfer into cardiomyopathic BIO14.6 hamsters by AAV 50
Linked-Read Whole Genome Sequencing Solves a Double DMD Gene Rearrangement 50
Enhancing cyst-like lesions of the white matter in tuberous sclerosis complex: a novel neuroradiological finding 50
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) 50
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 49
Neurofibromatosis Type 1: Pediatric Aspects and Review of Genotype-Phenotype Correlations 49
Le Distrofie muscolari dei Cingoli autosomiche recessive in Sud Italia: Aspetti clinici, genetici ed epidemiologici 49
G.P.10.11 T-CAP, the gene responsible for LGMD2G, may interact with dysferlin 49
Identification and Characterization of Splicing Defects by Single-Molecule Real-Time Sequencing Technology (PacBio) 49
The loss of interaction between TRIM32 and ubiquitination machinery is involved in limb-girdle muscular dystrophy 2H 48
Next generation sequencing (NGS) strategies for the genetic testing of myopathies 48
The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene 48
Molecular diagnosis in LGMD2A: Mutation analysis or protein testing? 47
Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations 47
Identification and analysis of candidate genes for Limb-Girdle Muscular Dystrophies 47
Clinical, molecular and genetic features of calpainopathy in Slovenia 47
LGMD2H patients of non Hutterite origin with mutations in TRIM32 gene 47
Limb girdle muscular dystrophies: update on genetic diagnosis and therapeutic approaches 47
Identification of a functional estrogen-responsive enhancer element in the promoter 2 of PRDM2 gene in breast cancer cell lines 47
Identification of candidate genes for limb-girdle muscular dystrophies: the yeast two hybrid approach 46
Improvement of survival in Duchenne Muscular Dystrophy: retrospective analysis of 835 patients 45
Log-PCR: a new tool for immediate and cost-effective diagnosis of up to 85% of dystrophin gene mutations 45
Totale 6.148
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Categoria #
all - tutte 33.799
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 33.799
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/202051 0 0 0 0 0 0 0 0 0 0 37 14
2020/2021769 59 2 90 65 126 8 104 87 20 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
2024/20251.903 7 21 27 43 400 327 355 178 279 244 22 0
Totale 7.318