POLLI, ROBERTA
 Distribuzione geografica
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Continente #
NA - Nord America 3.416
EU - Europa 582
AS - Asia 451
OC - Oceania 5
Continente sconosciuto - Info sul continente non disponibili 3
SA - Sud America 3
AF - Africa 1
Totale 4.461
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Nazione #
US - Stati Uniti d'America 3.411
CN - Cina 206
SG - Singapore 185
IT - Italia 173
SE - Svezia 115
FI - Finlandia 89
DE - Germania 65
FR - Francia 45
VN - Vietnam 44
UA - Ucraina 43
GB - Regno Unito 16
IE - Irlanda 9
IN - India 6
AU - Australia 5
NL - Olanda 5
PT - Portogallo 5
RU - Federazione Russa 5
CA - Canada 4
CZ - Repubblica Ceca 3
EU - Europa 3
HK - Hong Kong 3
NO - Norvegia 3
PK - Pakistan 2
AE - Emirati Arabi Uniti 1
AL - Albania 1
BG - Bulgaria 1
BR - Brasile 1
BS - Bahamas 1
CH - Svizzera 1
CL - Cile 1
CO - Colombia 1
CY - Cipro 1
IR - Iran 1
KR - Corea 1
LT - Lituania 1
MD - Moldavia 1
MY - Malesia 1
PL - Polonia 1
SC - Seychelles 1
Totale 4.461
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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 145
Boardman 92
Princeton 86
Santa Clara 65
Padova 63
Beijing 53
Helsinki 51
Medford 46
San Diego 45
Dong Ket 44
Roxbury 39
Des Moines 37
Hebei 21
Nanjing 17
Milan 11
Sant'elena 11
Nanchang 10
Dublin 9
Jiaxing 9
Rome 9
Udine 9
London 7
Norwalk 7
Changsha 6
Los Angeles 6
New York 6
Shenyang 6
Falkenstein 5
Lisbon 5
Venice 5
Florence 4
Fuzhou 4
Ogden 4
Pune 4
Shanghai 4
Sydney 4
Taizhou 4
Washington 4
Follina 3
Hangzhou 3
Hong Kong 3
Kansas City 3
Kunming 3
Moscow 3
Murano 3
Olomouc 3
Amsterdam 2
Bologna 2
Chengdu 2
Cincinnati 2
Dallas 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
Treviso 2
Zhengzhou 2
Avellino 1
Baoding 1
Belluno 1
Bogotá 1
Borås 1
Brendola 1
Brisbane 1
Buffalo 1
Campolongo Maggiore 1
Chennai 1
Chicago 1
Chisinau 1
Cinisello Balsamo 1
Falls Church 1
Frankfurt am Main 1
Huizhou 1
Kuala Lumpur 1
Kyiv 1
Landshut 1
Lanzhou 1
Lappeenranta 1
Leawood 1
Totale 3.646
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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 210
A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome. 187
Identification of Four NovelPCDH19Mutations and Prediction of Their Functional Impact 146
Molecular analysis of two uncharacterized sequence variants of the VHL gene. 144
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 144
Molecular genetics applied to clinical practice: the Cx26 hearing impairment 135
AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission 134
Characterization of intellectual disability and autism comorbidity through gene panel sequencing 126
Angelman Syndrome due to a novel splicing mutation of the UBE3A gene. 118
Somatic Mosaicism in von Hippel-Lindau Disease 112
Molecular diagnosis of inherited diseases 107
Molecular diagnosis of von Hippel-Lindau disease 106
Gait analysis in children with fragile syndrome: a pilot study 105
FRAXA and FRAXE: New Tools for the Diagnosis of Mental Retardation 99
Genetics and Mathematics: FMR1 premutation female carriers 99
Amplification of the Xq28 FRAXE repeats: extreme phenotype variability? 95
A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES) 95
Surface EMG during gait in children with fragile X syndrome: could this become a measurable outcome? 93
The guanine triphosphatase (GTPase) activating protein (GAP)-related domain of the neurofibromatosis type 1 gene is not mutated in neural crest-derived sporadic tumours. 92
The CDKL5 disorder is an independent clinical entityassociated with early-onset encephalopathy 89
Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria 88
Periventricular Heterotopia in Fragile X Syndrome 85
Allele drop out and MECP2 genetic testing 85
Gait analysis in children with fragile x syndrome: could this become a measurable outcome? 81
Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype 77
Early-onset epileptic encephalopathy in a girl carrying a truncating mutation of the ARX gene: rethinking the ARX phenotype in females 71
Distribution of AGG interruption patterns within nine world populations 67
Cx26 deafness: mutation analysis and clinical variability 66
Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND) 63
Molecular diagnosis in Rett Sindrome: the experience of a referring centre for rare diseases in the north-est of Italy. 55
VHL gene testing: qualitative versus quantitative molecular analysis. 52
Cluster analysis of electromyographic data in children with Fragile X Syndrome and controls 52
La diagnosi molecolare nella Sindrome di von Hippel-Lindau 51
Gait analysis in children with X fragile syndrome: a combined EMG and markerless approach 50
Alterations in surface EMG during gait in children with Fragile X Syndrome 48
A Missense de Novo Variant in the CASK -interactor KIRREL3 Gene Leading to Neurodevelopmental Disorder with Mild Cerebellar Hypoplasia 47
Effective Diagnosis of Neurodevelopmental Disorders (NDDs) by Computational Analysis and Next Generation Sequencing 47
High incidence of SHANK3 loss of function mutations in individuals with intellectual disability and autistic traits 46
Connexin 26 preverbal hearing impairment: mutation prevalence and heterozygosity in a selected population. 45
Patologia molecolare CDKL5 in una casistica di 170 individui non relati con disturbo pervasivo dello sviluppo e manifestazioni epilettiche ad insorgenza precoce 44
Prevalence and Expression of Cx26 Mutations 44
Feasibility and reliability assessment of video-based motion analysis and surface electromyography in children with fragile x during gait 43
Identification of SETBP1 Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With “Developmental and Epileptic Encephalopathy” 42
Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel mutations 39
PPP2R5D variants in patients with variable neurodevelopmental phenotype 39
Impact of the COVID-19 Italian Lockdown on the Physiological and Psychological Well-Being of Children with Fragile X Syndrome and Their Families 39
Gait analysis in children with X fragile syndrome: a combined emg and markerless approach. 38
Novel CDKL5 splicing variant in a boy with early-onset seizures 37
NEUROFIBROMATOSIS TYPE 1 GENE EXPRESSION IN PHEOCROMOCYTOMA 36
A Supervised Classification of Children with Fragile X Syndrome and Controls Based on Kinematic and sEMG Parameters 36
Expression of the NF1 gene product, neurofibromin, in brain tumors. 33
Dominio "GAP-related" e funzione del gene NF1 nei tumori 32
Brain malformations associated to Aldh7a1 gene mutations: Report of a novel homozygous mutation and literature review 30
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods 29
NEUROFIBROMATOSIS TYPE 1 GENE EXPRESSION IN PHEOCROMOCYTOMA AND PRMARY BRAIN TUMORS 29
Molecular characterization of large VHL deletions by Quantitative Real-Time PCR: the hypothesis of an Alu-mediated mechanism underlying VHL gene rearrangements 29
ESPRESSIONE DEL GENE NF1 IN FEOCROMOCITOMI E TUMORI PRIMITIVI DEL SISTEMA NERVOSO CENTRALE 29
Are gait kinematics and muscle activity influenced by mosaicism type in Fragile X Syndrome? 28
TRIO variants in individuals with variable intellectual deficits 28
TARGETED GENE PANEL FOR COMORBID NEUROLOGICAL DISORDERS 28
Expression of neurofibromin in brain tumors. 27
Clinical advantages from the molecular analysis of the Cx26 gene in preverbal sensorineural deafness. 27
NEUROFIBROMATOSIS TYPE 1 GENE EXPRESSION IN PHEOCHROMOCYTOMA 25
NEUROFIBROMATOSIS TYPE 1 GENE EXPRESSION IN PHEOCROMOCYTOMA AND PRMARY BRAIN TUMORS 24
Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow 19
Application of dynamic time warping to Fragile X syndrome’s gait patterns : a supervised approach 13
ARE KINEMATICS AND MUSCULAR FUNCTION ASSOCIATED WITH MOSAICISM TYPE IN MALES WITH FRAGILE X SYNDROME? 12
CLASSIFICATION OF DIFFERENT FRAGILE X SYNDROME PHENOTYPES : A CLUSTER ANALYSIS APPROACH 12
Unsupervised cluster approach to identify possible associations between phenotypes and gait motor control in children with Fragile X syndrome 8
Activation Ratio Correlates with IQ in Female Carriers of the FMR1 Premutation 7
Totale 4.518
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Categoria #
all - tutte 17.679
article - articoli 14.465
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 32.144
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020354 0 0 0 0 0 0 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
2023/2024340 29 40 52 25 14 29 18 17 6 26 47 37
2024/2025488 10 81 84 72 205 35 1 0 0 0 0 0
Totale 4.518