POLLI, ROBERTA
 Distribuzione geografica
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Continente #
NA - Nord America 3.208
EU - Europa 465
AS - Asia 209
OC - Oceania 5
Continente sconosciuto - Info sul continente non disponibili 3
SA - Sud America 2
AF - Africa 1
Totale 3.893
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Nazione #
US - Stati Uniti d'America 3.204
CN - Cina 157
IT - Italia 130
SE - Svezia 114
FI - Finlandia 81
DE - Germania 61
VN - Vietnam 44
UA - Ucraina 42
GB - Regno Unito 16
IE - Irlanda 9
AU - Australia 5
IN - India 5
CA - Canada 3
EU - Europa 3
FR - Francia 3
NL - Olanda 2
NO - Norvegia 2
AL - Albania 1
BG - Bulgaria 1
BR - Brasile 1
BS - Bahamas 1
CH - Svizzera 1
CL - Cile 1
CY - Cipro 1
IR - Iran 1
MY - Malesia 1
PL - Polonia 1
RU - Federazione Russa 1
SC - Seychelles 1
Totale 3.893
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Città #
Fairfield 528
Woodbridge 326
Chandler 324
Houston 246
Ann Arbor 233
Ashburn 220
Seattle 196
Wilmington 181
Jacksonville 180
Cambridge 162
Princeton 86
Padova 54
Beijing 50
Medford 46
San Diego 45
Dong Ket 44
Helsinki 43
Roxbury 39
Des Moines 37
Boardman 22
Hebei 21
Nanjing 17
Sant'elena 11
Nanchang 10
Dublin 9
Jiaxing 9
Rome 8
London 7
Norwalk 7
New York 6
Shenyang 6
Changsha 5
Los Angeles 5
Milan 5
Fuzhou 4
Ogden 4
Pune 4
Shanghai 4
Sydney 4
Taizhou 4
Washington 4
Follina 3
Hangzhou 3
Kansas City 3
Kunming 3
Murano 3
Bologna 2
Falkenstein 2
Gallio 2
Hefei 2
Indiana 2
Jinan 2
Kharkiv 2
Kilburn 2
Naples 2
Nürnberg 2
Oslo 2
Palermo 2
Piove Di Sacco 2
Zhengzhou 2
Avellino 1
Belluno 1
Borås 1
Brendola 1
Brisbane 1
Buffalo 1
Chicago 1
Cinisello Balsamo 1
Falls Church 1
Florence 1
Frankfurt am Main 1
Guangzhou 1
Kuala Lumpur 1
Kyiv 1
Landshut 1
Lanzhou 1
Lappeenranta 1
Leawood 1
Lodz 1
Louin 1
Modena 1
Montreal 1
Nassau 1
New Bedfont 1
New Orleans 1
Nicosia 1
Paese 1
Paola 1
Pomezia 1
Royal Leamington Spa 1
San Mateo 1
Simi Valley 1
Sofia 1
Southwark 1
St Petersburg 1
São Paulo 1
Tehran 1
Tettnang 1
Tianjin 1
Tirana 1
Totale 3.299
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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
Identification of Four NovelPCDH19Mutations and Prediction of Their Functional Impact 140
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
Characterization of intellectual disability and autism comorbidity through gene panel sequencing 119
Angelman Syndrome due to a novel splicing mutation of the UBE3A gene. 110
Molecular diagnosis of inherited diseases 103
Somatic Mosaicism in von Hippel-Lindau Disease 100
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
Genetics and Mathematics: FMR1 premutation female carriers 95
A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES) 87
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
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
Allele drop out and MECP2 genetic testing 81
Periventricular Heterotopia in Fragile X Syndrome 77
Early-onset epileptic encephalopathy in a girl carrying a truncating mutation of the ARX gene: rethinking the ARX phenotype in females 65
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
Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND) 57
Molecular diagnosis in Rett Sindrome: the experience of a referring centre for rare diseases in the north-est of Italy. 49
VHL gene testing: qualitative versus quantitative molecular analysis. 45
La diagnosi molecolare nella Sindrome di von Hippel-Lindau 42
Patologia molecolare CDKL5 in una casistica di 170 individui non relati con disturbo pervasivo dello sviluppo e manifestazioni epilettiche ad insorgenza precoce 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
A Missense de Novo Variant in the CASK -interactor KIRREL3 Gene Leading to Neurodevelopmental Disorder with Mild Cerebellar Hypoplasia 38
Identification of SETBP1 Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With “Developmental and Epileptic Encephalopathy” 36
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
Novel CDKL5 splicing variant in a boy with early-onset seizures 34
Impact of the COVID-19 Italian Lockdown on the Physiological and Psychological Well-Being of Children with Fragile X Syndrome and Their Families 32
NEUROFIBROMATOSIS TYPE 1 GENE EXPRESSION IN PHEOCROMOCYTOMA 30
Feasibility and reliability assessment of video-based motion analysis and surface electromyography in children with fragile x during gait 30
Gait analysis in children with X fragile syndrome: a combined emg and markerless approach. 29
Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel mutations 28
Expression of the NF1 gene product, neurofibromin, in brain tumors. 28
Dominio "GAP-related" e funzione del gene NF1 nei tumori 28
Gait analysis in children with X fragile syndrome: a combined EMG and markerless approach 28
ESPRESSIONE DEL GENE NF1 IN FEOCROMOCITOMI E TUMORI PRIMITIVI DEL SISTEMA NERVOSO CENTRALE 26
PPP2R5D variants in patients with variable neurodevelopmental phenotype 26
A Supervised Classification of Children with Fragile X Syndrome and Controls Based on Kinematic and sEMG Parameters 26
Molecular characterization of large VHL deletions by Quantitative Real-Time PCR: the hypothesis of an Alu-mediated mechanism underlying VHL gene rearrangements 24
Clinical advantages from the molecular analysis of the Cx26 gene in preverbal sensorineural deafness. 24
NEUROFIBROMATOSIS TYPE 1 GENE EXPRESSION IN PHEOCHROMOCYTOMA 23
Expression of neurofibromin in brain tumors. 22
NEUROFIBROMATOSIS TYPE 1 GENE EXPRESSION IN PHEOCROMOCYTOMA AND PRMARY BRAIN TUMORS 21
NEUROFIBROMATOSIS TYPE 1 GENE EXPRESSION IN PHEOCROMOCYTOMA AND PRMARY BRAIN TUMORS 20
TRIO variants in individuals with variable intellectual deficits 20
TARGETED GENE PANEL FOR COMORBID NEUROLOGICAL DISORDERS 20
Brain malformations associated to Aldh7a1 gene mutations: Report of a novel homozygous mutation and literature review 19
Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow 16
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods 10
Are gait kinematics and muscle activity influenced by mosaicism type in Fragile X Syndrome? 6
Activation Ratio Correlates with IQ in Female Carriers of the FMR1 Premutation 1
Totale 3.945
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Categoria #
all - tutte 13.222
article - articoli 11.162
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 24.384
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/2019201 0 0 0 0 0 0 0 0 0 43 89 69
2019/2020607 87 15 12 38 56 45 52 73 71 72 51 35
2020/2021977 34 34 25 33 22 46 23 54 90 104 303 209
2021/2022762 18 87 27 89 77 74 28 69 46 16 52 179
2022/2023644 139 95 14 48 101 74 3 46 70 4 38 12
2023/2024255 29 40 52 25 14 29 18 17 6 25 0 0
Totale 3.945