MURGIA, ALESSANDRA
 Distribuzione geografica
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Continente #
NA - Nord America 7.268
EU - Europa 1.100
AS - Asia 543
OC - Oceania 7
Continente sconosciuto - Info sul continente non disponibili 6
SA - Sud America 4
AF - Africa 2
Totale 8.930
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Nazione #
US - Stati Uniti d'America 7.259
CN - Cina 400
IT - Italia 277
SE - Svezia 271
FI - Finlandia 198
VN - Vietnam 128
UA - Ucraina 125
DE - Germania 114
GB - Regno Unito 46
IE - Irlanda 19
NL - Olanda 12
CA - Canada 8
IN - India 8
FR - Francia 7
AU - Australia 6
EU - Europa 6
RU - Federazione Russa 6
RO - Romania 5
BG - Bulgaria 4
PL - Polonia 4
BE - Belgio 3
CH - Svizzera 3
BR - Brasile 2
JP - Giappone 2
NO - Norvegia 2
AL - Albania 1
AR - Argentina 1
BS - Bahamas 1
CL - Cile 1
CY - Cipro 1
EG - Egitto 1
ES - Italia 1
IL - Israele 1
IR - Iran 1
MK - Macedonia 1
MT - Malta 1
MY - Malesia 1
NZ - Nuova Zelanda 1
SC - Seychelles 1
TW - Taiwan 1
Totale 8.930
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Città #
Fairfield 1.095
Woodbridge 776
Chandler 692
Ann Arbor 639
Houston 562
Ashburn 481
Wilmington 442
Jacksonville 427
Seattle 420
Cambridge 353
Princeton 216
Dong Ket 128
Beijing 119
San Diego 114
Medford 100
Helsinki 88
Des Moines 82
Padova 78
Roxbury 71
Nanjing 60
Boardman 51
Hebei 37
Guangzhou 30
Nanchang 27
Jiaxing 21
Dublin 19
Shenyang 19
Norwalk 18
Changsha 13
London 13
Milan 13
New York 12
Rome 12
Sant'elena 12
Falls Church 10
Los Angeles 10
Piove Di Sacco 10
Tianjin 9
Hangzhou 8
Washington 7
Bologna 6
Fuzhou 6
Jinan 6
Ogden 6
Genova 5
Kharkiv 5
Kilburn 5
Putignano 5
Redwood City 5
Shanghai 5
Sydney 5
Timisoara 5
Grand Rapids 4
Hefei 4
Indiana 4
Pune 4
Sofia 4
Taizhou 4
Zhengzhou 4
Afragola 3
Castellammare di Stabia 3
Chicago 3
Florence 3
Follina 3
Kansas City 3
Kunming 3
Lendinara 3
Muggiò 3
Murano 3
Palermo 3
Radomsko 3
Salerno 3
Toronto 3
Belluno 2
Borås 2
Caserta 2
Chengdu 2
Chiswick 2
Falkenstein 2
Gallio 2
Hounslow 2
Limena 2
Naples 2
New Bedfont 2
Ningbo 2
Nürnberg 2
Osimo 2
Oslo 2
Simi Valley 2
São Paulo 2
Torino 2
Waanrode 2
Zurich 2
Abano Terme 1
Acton 1
Amsterdam 1
Arienzo 1
Arzignano 1
Auburn Hills 1
Auckland 1
Totale 7.475
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Nome #
A PATHOGENIC ROLE OF THE X-LINKED CYCLIN-DEPENDENT KINASE-LIKE 5 AND ARISTALESS-RELATED HOMEOBOX GENES IN EPILEPTIC ENCEPHALOPATHY OF UNKNOWN ETIOLOGY WITH ONSET IN THE FIRST YEAR OF LIFE 201
A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome. 178
Von Hippel-Lindau disease: an evaluation of natural history and functional disability 177
Familial Ohtahara syndrome due to a novel ARX gene mutation 146
Identification of Four NovelPCDH19Mutations and Prediction of Their Functional Impact 140
A novel deletion involving the Connexin-30 gene, del(GJB6-D13S1854) found in trans with mutations in the GJB2 gene (Connexin 26) in subjects with DFNB1 non syndromic hearing impairment 138
A new disease-causing mutation in the GAP-related domain of the NF1 gene 137
A novel mutation of the EYA4 gene associated with post-lingual hearing loss in a proband is co-segregating with a novel PAX3 mutation in two congenitally deaf family members 135
Molecular analysis of two uncharacterized sequence variants of the VHL gene. 133
Molecular genetics applied to clinical practice: the Cx26 hearing impairment 131
AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission 130
Oncologic causes of precocious puberty 128
A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression. 126
14q12 duplication including FOXG1: Is there a common age-dependent epileptic phenotype? 123
Characterization of intellectual disability and autism comorbidity through gene panel sequencing 119
Mutazioni DFNB1 e Ipoacusia Neurosensoriale non Sindromica: Genetica e Caratteristiche Cliniche 118
Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI-5 intellectual disability challenge 115
Angelman Syndrome due to a novel splicing mutation of the UBE3A gene. 110
Germline mutations in von Hippel_Lindau (VHL) gene in patients from Poland. Disease presentation in patients with deletions of the entire VHL gene 108
Rhinencephalon changes in tuberous sclerosis complex. 107
Fine analysis of the short arm of chromosome 1 in sporadic and familial pheochromocytoma. 105
Molecular diagnosis of inherited diseases 103
Somatic Mosaicism in von Hippel-Lindau Disease 100
Somatic Mosaicism as Modulator of the Global and Intellectual Phenotype in Epimutated Angelman Syndrome Patients 100
Construction and characterization of a yeast artificial chromosome library for Xpter-Xq27.3: a systematic determination of cocloning rate and X-chromosome representation. 99
Molecular diagnosis of von Hippel-Lindau disease 98
Gait analysis in children with fragile syndrome: a pilot study 98
FRAXA and FRAXE: New Tools for the Diagnosis of Mental Retardation 96
Connexin 36 35delG does not represent a mutational hot spot. 96
Cell surface vitamin D-binding protein (GC-globulin) is acquired from plasma. 95
Genetics and Mathematics: FMR1 premutation female carriers 95
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders 91
Adding structural information to the von Hippel-Lindau (VHL) tumor suppressor interaction network 90
CNTNAP2 mutations and autosomal dominant epilepsy with auditory features 90
Familial nonsyndromic pheochromocytoma. 89
A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES) 87
Retinal abnormalities associated with a mutation of the nucleotide 683 in von Hippel-Lindau disease 86
Surface EMG during gait in children with fragile X syndrome: could this become a measurable outcome? 85
Amplification of the Xq28 FRAXE repeats: extreme phenotype variability? 84
The CDKL5 disorder is an independent clinical entityassociated with early-onset encephalopathy 84
Identification and in silico analysis of novel von Hippel-Lindau (VHL) gene variants from a large population 84
Functional characterization of CDK5 and CDK5R1 mutations identified in patients with non-syndromic intellectual disability 83
Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria 82
The guanine triphosphatase (GTPase) activating protein (GAP)-related domain of the neurofibromatosis type 1 gene is not mutated in neural crest-derived sporadic tumours. 82
Mavoglurant in Fragile X Syndrome: Results of two open-label, extension trials in adults and adolescents 82
Usefulness of [111In-DTPA0] octreotide scintigraphy in a family with von Hippel-Lindau disease. 81
Allele drop out and MECP2 genetic testing 81
Periventricular Heterotopia in Fragile X Syndrome 77
Spectrum and Frequency of SLC26A4 Mutations Among Czech Patients with Early Hearing Loss with and without Enlarged Vestibular Aqueduct (EVA) 77
Rhabdomyosarcoma in a patient with cardio-facio-cutaneous syndrome 76
Dynamic scaffolds for neuronal signaling: in silico analysis of the TANC protein family 76
Diencephalic Syndrome and Disseminated Juvenile Pilocytic Asrocytomas of the Hyptholamic- Optic Chiasm Region 75
Linkage analysis of neurofibromatosis type 1 72
A genotype-phenotype correlartion for GJB2 (connexin 26) deafness 72
GJB2 mutations and degree of hearing loss: a multicenter study 70
Linkage Analysis of Neurofibromatosis Type 1. Study of a Homogeneous North Italian Population with Five DNA Markers of Chromosome 17. 69
Molecular study in neurofibromatosis type 1: linkage and mutation analysis 67
Silhouette: Elena Lucrezia Cornaro Piscopia (1646-1684), the First University Alumna in the World 65
Linkage analysis of neurofibromatosis 1. Study of a homogeneous North Italian population with five DNA markers of chromosome 17. DNA analysis of genetic diseases: state of art in Italy. 65
Early-onset epileptic encephalopathy in a girl carrying a truncating mutation of the ARX gene: rethinking the ARX phenotype in females 65
The Italian XLMR Bank: A Clinical and Molecular Database 64
Gait analysis in children with fragile x syndrome: could this become a measurable outcome? 64
Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype 64
Distribution of AGG interruption patterns within nine world populations 62
Cx26 deafness: mutation analysis and clinical variability 59
Molecular Analysis of four males with mental retardation and deletions of Xq21 places the putative region in Xq21.1 between DXS233 and CHM 59
Connexin26 deafness is not always congenital 58
Vitamin D Binding Protein: Structure and Pattern of Expression 57
Spontaneous partial regression of low-grade glioma in children with neurofibromatosis-1: a real possibility. 57
Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND) 57
FEOCROMOCITOMA: UN TUMORE SPIA DI SINDROMI GENETICHE. DATI DAL PROGETTO NAZIONALE TREP (TUMORI RARI IN ETA’ PEDIATRICA ). 55
Von Hippel-Lindau disease and multispecialist team 50
Effect of A Fixed Combination of Captopril Or Amiloride With Hydrochlorothiazide On Blood-pressure and Serum Electrolytes In Hypertensive Patients 49
Molecular diagnosis in Rett Sindrome: the experience of a referring centre for rare diseases in the north-est of Italy. 49
Use of non radioactive probes in the linkage analysis of genetic disorders. 48
VHL gene testing: qualitative versus quantitative molecular analysis. 45
Neurosurgical treatment of von Hippel-Lindau-associated hemangioblastomas: benefits, risks and outcome 44
La diagnosi molecolare nella Sindrome di von Hippel-Lindau 42
Phenotypic variability of patients homozygous for the GJB2 mutations 35delG cannot be explained by the influence of one major modifier gene 41
Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene 41
Patologia molecolare CDKL5 in una casistica di 170 individui non relati con disturbo pervasivo dello sviluppo e manifestazioni epilettiche ad insorgenza precoce 39
Feocromocitoma sporadico come spia di sindromi genetiche: un report preliminare dal progetto TREP 39
Mutazioni del gene della connessina 26 in casi di ipoacusia neurosensoriale preverbale. 39
Prevalence and Expression of Cx26 Mutations 39
Cluster analysis of electromyographic data in children with Fragile X Syndrome and controls 39
Alterations in surface EMG during gait in children with Fragile X Syndrome 39
Connexin 26 preverbal hearing impairment: mutation prevalence and heterozygosity in a selected population. 38
TRANSMISSION OF THE FMR-1 CCG REPEATS IN A FRAGILE X FAMILY: EVIDENCE OF REVERSION OF A PREMUTATION 38
A Missense de Novo Variant in the CASK -interactor KIRREL3 Gene Leading to Neurodevelopmental Disorder with Mild Cerebellar Hypoplasia 38
Linkage analysis of Neurofibromatosis Type I. Study of a homogeneous north italian population with five DNA markers of chromosome 17 37
GERM-LINE AND SOMATIC MUTATIONS IN THE FLR EXON OF THE NF1 GENE. 36
High phenotypic intra-familial variability of pyridoxine-dependent epilepsy. 36
Identification of SETBP1 Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With “Developmental and Epileptic Encephalopathy” 36
The use of biotinylated probes in the DNA analysis for diagnostic purpose. 35
Molecular study in neurofibromatosis type 1: linkage and mutation analysis 35
A NEW MUTATION IN THE GRD OF THE NF1 GENE 35
PILOT SCREENING OF A NORTH ITALIAN POPULATION FOR NINE CYSTIC FIBROSIS MUTATIONS 35
Effective Diagnosis of Neurodevelopmental Disorders (NDDs) by Computational Analysis and Next Generation Sequencing 35
High incidence of SHANK3 loss of function mutations in individuals with intellectual disability and autistic traits 35
Xp22.3 Genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy 35
Totale 7.875
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Categoria #
all - tutte 29.329
article - articoli 24.592
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 517
Totale 54.438
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/2019384 0 0 0 0 0 0 0 0 0 0 216 168
2019/20201.536 238 34 32 96 146 111 129 172 182 190 116 90
2020/20211.782 72 86 61 91 38 83 56 115 191 218 431 340
2021/20221.813 37 269 152 210 142 112 85 150 80 30 159 387
2022/20231.416 307 174 19 148 210 179 6 104 173 7 69 20
2023/2024512 51 84 86 52 28 52 33 53 13 59 1 0
Totale 9.027