POLLI, ROBERTA
 Distribuzione geografica
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Continente #
NA - Nord America 3000
EU - Europa 395
AS - Asia 173
Continente sconosciuto - Info sul continente non disponibili 3
SA - Sud America 2
Totale 3573
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Nazione #
US - Stati Uniti d'America 2998
CN - Cina 127
SE - Svezia 114
IT - Italia 103
FI - Finlandia 64
DE - Germania 51
VN - Vietnam 44
UA - Ucraina 42
GB - Regno Unito 6
IE - Irlanda 6
EU - Europa 3
FR - Francia 2
NL - Olanda 2
NO - Norvegia 2
AL - Albania 1
BE - Belgio 1
BR - Brasile 1
BS - Bahamas 1
CA - Canada 1
CL - Cile 1
IN - India 1
MY - Malesia 1
PL - Polonia 1
Totale 3573
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Città #
Fairfield 528
Woodbridge 326
Chandler 324
Houston 246
Ann Arbor 233
Ashburn 201
Seattle 191
Wilmington 181
Jacksonville 180
Cambridge 162
Princeton 86
Padova 49
Medford 46
San Diego 45
Dong Ket 44
Roxbury 39
Des Moines 37
Beijing 33
Helsinki 27
Boardman 22
Hebei 21
Nanjing 17
Sant'elena 11
Nanchang 10
Jiaxing 9
Rome 8
Norwalk 7
Dublin 6
Shenyang 6
Changsha 5
Fuzhou 4
Taizhou 4
Follina 3
Hangzhou 3
Kunming 3
London 3
Murano 3
Hefei 2
Indiana 2
Jinan 2
Kharkiv 2
Nürnberg 2
Oslo 2
Piove Di Sacco 2
Zhengzhou 2
Avellino 1
Belluno 1
Borås 1
Brendola 1
Brussels 1
Buffalo 1
Chicago 1
Falls Church 1
Florence 1
Kuala Lumpur 1
Kyiv 1
Landshut 1
Lanzhou 1
Leawood 1
Lodz 1
Milan 1
Modena 1
Nassau 1
San Mateo 1
Simi Valley 1
São Paulo 1
Tettnang 1
Tianjin 1
Tirana 1
Vigonovo 1
Zhoushan 1
Totale 3165
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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 193
A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome. 173
Identification of Four NovelPCDH19Mutations and Prediction of Their Functional Impact 133
Molecular genetics applied to clinical practice: the Cx26 hearing impairment 129
Molecular analysis of two uncharacterized sequence variants of the VHL gene. 126
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 126
AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission 125
Characterization of intellectual disability and autism comorbidity through gene panel sequencing 110
Angelman Syndrome due to a novel splicing mutation of the UBE3A gene. 102
Molecular diagnosis of inherited diseases 101
Molecular diagnosis of von Hippel-Lindau disease 98
FRAXA and FRAXE: New Tools for the Diagnosis of Mental Retardation 96
Somatic Mosaicism in von Hippel-Lindau Disease 93
Genetics and Mathematics: FMR1 premutation female carriers 92
Gait analysis in children with fragile syndrome: a pilot study 86
Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria 82
The CDKL5 disorder is an independent clinical entityassociated with early-onset encephalopathy 82
Surface EMG during gait in children with fragile X syndrome: could this become a measurable outcome? 80
The guanine triphosphatase (GTPase) activating protein (GAP)-related domain of the neurofibromatosis type 1 gene is not mutated in neural crest-derived sporadic tumours. 78
Periventricular Heterotopia in Fragile X Syndrome 77
A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES) 77
Allele drop out and MECP2 genetic testing 74
Amplification of the Xq28 FRAXE repeats: extreme phenotype variability? 74
Early-onset epileptic encephalopathy in a girl carrying a truncating mutation of the ARX gene: rethinking the ARX phenotype in females 59
Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype 58
Gait analysis in children with fragile x syndrome: could this become a measurable outcome? 57
Distribution of AGG interruption patterns within nine world populations 56
Cx26 deafness: mutation analysis and clinical variability 55
Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND) 51
Molecular diagnosis in Rett Sindrome: the experience of a referring centre for rare diseases in the north-est of Italy. 46
VHL gene testing: qualitative versus quantitative molecular analysis. 42
La diagnosi molecolare nella Sindrome di von Hippel-Lindau 39
Patologia molecolare CDKL5 in una casistica di 170 individui non relati con disturbo pervasivo dello sviluppo e manifestazioni epilettiche ad insorgenza precoce 37
Prevalence and Expression of Cx26 Mutations 36
Connexin 26 preverbal hearing impairment: mutation prevalence and heterozygosity in a selected population. 34
Cluster analysis of electromyographic data in children with Fragile X Syndrome and controls 33
Alterations in surface EMG during gait in children with Fragile X Syndrome 33
Identification of SETBP1 Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With “Developmental and Epileptic Encephalopathy” 33
Novel CDKL5 splicing variant in a boy with early-onset seizures 31
Impact of the COVID-19 Italian Lockdown on the Physiological and Psychological Well-Being of Children with Fragile X Syndrome and Their Families 31
Expression of the NF1 gene product, neurofibromin, in brain tumors. 28
Feasibility and reliability assessment of video-based motion analysis and surface electromyography in children with fragile x during gait 28
High incidence of SHANK3 loss of function mutations in individuals with intellectual disability and autistic traits 27
NEUROFIBROMATOSIS TYPE 1 GENE EXPRESSION IN PHEOCROMOCYTOMA 26
A Missense de Novo Variant in the CASK -interactor KIRREL3 Gene Leading to Neurodevelopmental Disorder with Mild Cerebellar Hypoplasia 25
Effective Diagnosis of Neurodevelopmental Disorders (NDDs) by Computational Analysis and Next Generation Sequencing 25
ESPRESSIONE DEL GENE NF1 IN FEOCROMOCITOMI E TUMORI PRIMITIVI DEL SISTEMA NERVOSO CENTRALE 24
Gait analysis in children with X fragile syndrome: a combined EMG and markerless approach 24
Gait analysis in children with X fragile syndrome: a combined emg and markerless approach. 23
NEUROFIBROMATOSIS TYPE 1 GENE EXPRESSION IN PHEOCHROMOCYTOMA 23
Molecular characterization of large VHL deletions by Quantitative Real-Time PCR: the hypothesis of an Alu-mediated mechanism underlying VHL gene rearrangements 22
Clinical advantages from the molecular analysis of the Cx26 gene in preverbal sensorineural deafness. 22
PPP2R5D variants in patients with variable neurodevelopmental phenotype 22
Dominio "GAP-related" e funzione del gene NF1 nei tumori 21
Expression of neurofibromin in brain tumors. 21
NEUROFIBROMATOSIS TYPE 1 GENE EXPRESSION IN PHEOCROMOCYTOMA AND PRMARY BRAIN TUMORS 19
A Supervised Classification of Children with Fragile X Syndrome and Controls Based on Kinematic and sEMG Parameters 19
NEUROFIBROMATOSIS TYPE 1 GENE EXPRESSION IN PHEOCROMOCYTOMA AND PRMARY BRAIN TUMORS 17
TRIO variants in individuals with variable intellectual deficits 17
TARGETED GENE PANEL FOR COMORBID NEUROLOGICAL DISORDERS 15
Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow 15
Brain malformations associated to Aldh7a1 gene mutations: Report of a novel homozygous mutation and literature review 14
Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel mutations 6
Totale 3621
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Categoria #
all - tutte 6432
article - articoli 5341
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 11773
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2017/201832 0000 00 00 60260
2018/2019281 01456 12 120 4438969
2019/2020607 87151238 5645 5273 71725135
2020/2021977 34342533 2246 2354 90104303209
2021/2022762 18872789 7774 2869 461652179
2022/2023575 139951448 10174 347 54000
Totale 3621