POLLI, ROBERTA
 Distribuzione geografica
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Continente #
NA - Nord America 3.492
EU - Europa 736
AS - Asia 640
AF - Africa 74
SA - Sud America 34
OC - Oceania 5
Continente sconosciuto - Info sul continente non disponibili 3
Totale 4.984
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Nazione #
US - Stati Uniti d'America 3.480
SG - Singapore 307
IT - Italia 221
CN - Cina 208
SE - Svezia 115
DE - Germania 97
FI - Finlandia 94
CI - Costa d'Avorio 72
HK - Hong Kong 64
FR - Francia 48
UA - Ucraina 44
VN - Vietnam 44
RU - Federazione Russa 35
BR - Brasile 30
GB - Regno Unito 24
CA - Canada 11
NL - Olanda 11
AT - Austria 9
IE - Irlanda 9
PT - Portogallo 8
IN - India 7
NO - Norvegia 7
AU - Australia 5
LT - Lituania 4
CZ - Repubblica Ceca 3
EU - Europa 3
PK - Pakistan 3
BE - Belgio 2
KG - Kirghizistan 2
AE - Emirati Arabi Uniti 1
AL - Albania 1
AR - Argentina 1
BG - Bulgaria 1
BS - Bahamas 1
CH - Svizzera 1
CL - Cile 1
CO - Colombia 1
CY - Cipro 1
EG - Egitto 1
IR - Iran 1
KR - Corea 1
MD - Moldavia 1
MY - Malesia 1
PL - Polonia 1
PY - Paraguay 1
SC - Seychelles 1
Totale 4.984
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Città #
Fairfield 528
Woodbridge 326
Chandler 324
Houston 246
Ann Arbor 233
Ashburn 223
Seattle 196
Wilmington 181
Jacksonville 180
Cambridge 162
Singapore 146
Boardman 92
Padova 89
Princeton 86
Abidjan 72
Santa Clara 65
Hong Kong 64
Helsinki 56
Beijing 53
Medford 46
San Diego 45
Dong Ket 44
Roxbury 39
Des Moines 37
Hebei 21
Nanjing 17
Milan 11
Sant'elena 11
London 10
Nanchang 10
Dublin 9
Falkenstein 9
Jiaxing 9
Los Angeles 9
Rome 9
Udine 9
Venice 9
Nuremberg 8
Norwalk 7
Verona 7
Changsha 6
New York 6
Ponzano Veneto 6
Shenyang 6
Toronto 6
Amsterdam 5
Frankfurt am Main 5
Lisbon 5
Trondheim 5
Buffalo 4
Dallas 4
Düsseldorf 4
Florence 4
Fuzhou 4
Ogden 4
Pune 4
Shanghai 4
Sydney 4
Taizhou 4
Vienna 4
Washington 4
Chicago 3
Faro 3
Follina 3
Hangzhou 3
Kansas City 3
Kunming 3
Moscow 3
Murano 3
Olomouc 3
Rickmansworth 3
Betim 2
Bishkek 2
Bologna 2
Brussels 2
Chengdu 2
Cincinnati 2
Codognè 2
Fort Wayne 2
Gallio 2
Guangzhou 2
Hefei 2
Indiana 2
Jinan 2
Kharkiv 2
Kilburn 2
Naples 2
Nürnberg 2
Oslo 2
Paese 2
Palermo 2
Piove Di Sacco 2
Sacramento 2
Salt Lake City 2
San Francisco 2
Treviso 2
Zhengzhou 2
Alto Caparaó 1
Asunción 1
Avellino 1
Totale 3.881
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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 221
A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome. 197
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 150
Identification of Four NovelPCDH19Mutations and Prediction of Their Functional Impact 149
Molecular analysis of two uncharacterized sequence variants of the VHL gene. 146
Characterization of intellectual disability and autism comorbidity through gene panel sequencing 142
Molecular genetics applied to clinical practice: the Cx26 hearing impairment 140
AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission 139
Angelman Syndrome due to a novel splicing mutation of the UBE3A gene. 125
Somatic Mosaicism in von Hippel-Lindau Disease 117
Molecular diagnosis of von Hippel-Lindau disease 111
Molecular diagnosis of inherited diseases 111
Gait analysis in children with fragile syndrome: a pilot study 109
A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES) 107
Genetics and Mathematics: FMR1 premutation female carriers 104
FRAXA and FRAXE: New Tools for the Diagnosis of Mental Retardation 103
Amplification of the Xq28 FRAXE repeats: extreme phenotype variability? 99
The guanine triphosphatase (GTPase) activating protein (GAP)-related domain of the neurofibromatosis type 1 gene is not mutated in neural crest-derived sporadic tumours. 98
Surface EMG during gait in children with fragile X syndrome: could this become a measurable outcome? 98
Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria 97
The CDKL5 disorder is an independent clinical entityassociated with early-onset encephalopathy 95
Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype 93
Periventricular Heterotopia in Fragile X Syndrome 92
Allele drop out and MECP2 genetic testing 92
Gait analysis in children with fragile x syndrome: could this become a measurable outcome? 85
Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel mutations 80
Early-onset epileptic encephalopathy in a girl carrying a truncating mutation of the ARX gene: rethinking the ARX phenotype in females 74
Distribution of AGG interruption patterns within nine world populations 70
Cx26 deafness: mutation analysis and clinical variability 69
Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND) 67
Molecular diagnosis in Rett Sindrome: the experience of a referring centre for rare diseases in the north-est of Italy. 62
Cluster analysis of electromyographic data in children with Fragile X Syndrome and controls 61
La diagnosi molecolare nella Sindrome di von Hippel-Lindau 58
Gait analysis in children with X fragile syndrome: a combined EMG and markerless approach 58
Alterations in surface EMG during gait in children with Fragile X Syndrome 58
A Missense de Novo Variant in the CASK -interactor KIRREL3 Gene Leading to Neurodevelopmental Disorder with Mild Cerebellar Hypoplasia 57
Effective Diagnosis of Neurodevelopmental Disorders (NDDs) by Computational Analysis and Next Generation Sequencing 55
Feasibility and reliability assessment of video-based motion analysis and surface electromyography in children with fragile x during gait 55
VHL gene testing: qualitative versus quantitative molecular analysis. 54
High incidence of SHANK3 loss of function mutations in individuals with intellectual disability and autistic traits 54
Prevalence and Expression of Cx26 Mutations 51
Identification of SETBP1 Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With “Developmental and Epileptic Encephalopathy” 51
Patologia molecolare CDKL5 in una casistica di 170 individui non relati con disturbo pervasivo dello sviluppo e manifestazioni epilettiche ad insorgenza precoce 49
Connexin 26 preverbal hearing impairment: mutation prevalence and heterozygosity in a selected population. 48
PPP2R5D variants in patients with variable neurodevelopmental phenotype 46
Impact of the COVID-19 Italian Lockdown on the Physiological and Psychological Well-Being of Children with Fragile X Syndrome and Their Families 46
Gait analysis in children with X fragile syndrome: a combined emg and markerless approach. 45
A Supervised Classification of Children with Fragile X Syndrome and Controls Based on Kinematic and sEMG Parameters 43
Are gait kinematics and muscle activity influenced by mosaicism type in Fragile X Syndrome? 41
Novel CDKL5 splicing variant in a boy with early-onset seizures 41
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods 40
NEUROFIBROMATOSIS TYPE 1 GENE EXPRESSION IN PHEOCROMOCYTOMA 40
Expression of the NF1 gene product, neurofibromin, in brain tumors. 38
Dominio "GAP-related" e funzione del gene NF1 nei tumori 38
Clinical advantages from the molecular analysis of the Cx26 gene in preverbal sensorineural deafness. 38
Brain malformations associated to Aldh7a1 gene mutations: Report of a novel homozygous mutation and literature review 38
NEUROFIBROMATOSIS TYPE 1 GENE EXPRESSION IN PHEOCROMOCYTOMA AND PRMARY BRAIN TUMORS 33
TRIO variants in individuals with variable intellectual deficits 33
ESPRESSIONE DEL GENE NF1 IN FEOCROMOCITOMI E TUMORI PRIMITIVI DEL SISTEMA NERVOSO CENTRALE 33
Molecular characterization of large VHL deletions by Quantitative Real-Time PCR: the hypothesis of an Alu-mediated mechanism underlying VHL gene rearrangements 32
Expression of neurofibromin in brain tumors. 31
NEUROFIBROMATOSIS TYPE 1 GENE EXPRESSION IN PHEOCHROMOCYTOMA 31
Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow 31
TARGETED GENE PANEL FOR COMORBID NEUROLOGICAL DISORDERS 30
NEUROFIBROMATOSIS TYPE 1 GENE EXPRESSION IN PHEOCROMOCYTOMA AND PRMARY BRAIN TUMORS 29
Application of dynamic time warping to Fragile X syndrome’s gait patterns : a supervised approach 28
Unsupervised cluster approach to identify possible associations between phenotypes and gait motor control in children with Fragile X syndrome 23
CLASSIFICATION OF DIFFERENT FRAGILE X SYNDROME PHENOTYPES : A CLUSTER ANALYSIS APPROACH 23
ARE KINEMATICS AND MUSCULAR FUNCTION ASSOCIATED WITH MOSAICISM TYPE IN MALES WITH FRAGILE X SYNDROME? 22
Activation Ratio Correlates with IQ in Female Carriers of the FMR1 Premutation 13
Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge 11
Neurobehavioral Outcomes Relate to Activation Ratio in Female Carriers of Fragile X Syndrome Full Mutation: Two Pediatric Case Studies 8
Totale 5.056
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Categoria #
all - tutte 20.266
article - articoli 16.401
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 36.667
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020158 0 0 0 0 0 0 0 0 0 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
2023/2024340 29 40 52 25 14 29 18 17 6 26 47 37
2024/20251.026 10 81 84 72 205 35 120 158 200 61 0 0
Totale 5.056