Neri, Giovanni
 Distribuzione geografica
Continente #
NA - Nord America 4.883
EU - Europa 4.827
AS - Asia 1.076
AF - Africa 21
OC - Oceania 9
SA - Sud America 8
Continente sconosciuto - Info sul continente non disponibili 3
Totale 10.827
Nazione #
US - Stati Uniti d'America 4.860
DE - Germania 1.391
SE - Svezia 956
CN - Cina 819
PL - Polonia 678
UA - Ucraina 672
IT - Italia 316
IE - Irlanda 259
FR - Francia 159
FI - Finlandia 148
GB - Regno Unito 114
IN - India 81
TR - Turchia 79
BE - Belgio 32
NL - Olanda 29
RU - Federazione Russa 27
HK - Hong Kong 26
JP - Giappone 19
CI - Costa d'Avorio 15
CA - Canada 14
SG - Singapore 13
IR - Iran 12
ES - Italia 11
AU - Australia 8
VN - Vietnam 8
AT - Austria 6
BZ - Belize 5
CH - Svizzera 5
CL - Cile 4
MX - Messico 4
MT - Malta 3
RO - Romania 3
BG - Bulgaria 2
BR - Brasile 2
CZ - Repubblica Ceca 2
EG - Egitto 2
EU - Europa 2
HU - Ungheria 2
ID - Indonesia 2
KR - Corea 2
KW - Kuwait 2
KZ - Kazakistan 2
MD - Moldavia 2
NO - Norvegia 2
PK - Pakistan 2
PT - Portogallo 2
SA - Arabia Saudita 2
ZA - Sudafrica 2
A1 - Anonimo 1
AE - Emirati Arabi Uniti 1
BD - Bangladesh 1
BO - Bolivia 1
CM - Camerun 1
EE - Estonia 1
GR - Grecia 1
HR - Croazia 1
IL - Israele 1
LU - Lussemburgo 1
LV - Lettonia 1
MY - Malesia 1
NG - Nigeria 1
NZ - Nuova Zelanda 1
PE - Perù 1
PH - Filippine 1
SK - Slovacchia (Repubblica Slovacca) 1
TH - Thailandia 1
TW - Taiwan 1
Totale 10.827
Città #
Chandler 880
Warsaw 647
Ashburn 438
Jacksonville 349
San Mateo 260
Dublin 255
Nanjing 243
Woodbridge 227
Ann Arbor 215
Wilmington 206
Fairfield 162
Seattle 130
Houston 125
Nanchang 110
Boston 108
Lawrence 94
New York 79
Dearborn 77
Izmir 75
Cattolica 72
Nürnberg 72
Beijing 64
Cambridge 59
Redwood City 57
Milan 56
Munich 54
Kunming 46
Tianjin 43
Princeton 42
University Park 42
Boardman 41
Zhengzhou 40
Hebei 38
Changsha 37
Marseille 37
Norwalk 34
Shenyang 34
Bremen 33
Hangzhou 33
Jiaxing 33
Mountain View 33
Redmond 32
Brussels 29
Chicago 28
Kraków 28
Rome 25
Lancaster 24
Fremont 23
Hong Kong 22
Detroit 21
Helsinki 20
Simi Valley 19
Guangzhou 18
Falls Church 17
Leawood 16
Abidjan 15
Jinan 15
Shanghai 15
Los Angeles 11
Philadelphia 11
Pune 11
Augusta 10
Indiana 9
London 9
Washington 8
Auburn Hills 7
Dong Ket 7
Ningbo 7
Ottawa 7
Phoenix 7
Bologna 6
Changchun 6
Lanzhou 6
San Jose 6
Altamura 5
Barcelona 5
Belize City 5
Edinburgh 5
Florence 5
Kish 5
Monmouth Junction 5
Mumbai 5
Taizhou 5
Yalta 5
Barrafranca 4
Boydton 4
Marion 4
Naaldwijk 4
Perth 4
Phoenixville 4
Port Orchard 4
San Diego 4
San Francisco 4
Singapore 4
Sovizzo 4
Vienna 4
Amsterdam 3
Ardabil 3
Buffalo 3
Busto Arsizio 3
Totale 6.285
Nome #
Molecular, clinical, and muscle studies in myotonic dystrophy type 1 (DM1) associated with novel variant CCG expansions 357
Chromosome 9p deletion syndrome and sex reversal: novel findings and redefinition of the critically deleted regions 345
Transcriptional reactivation of the FMR1 Gene. A possible approach to the treatment of the fragile X syndrome 310
Lim Mineralization Protein 3 Induces the Osteogenic Differentiation of Human Amniotic Fluid Stromal Cells through Kruppel-Like Factor-4 Downregulation and Further Bone-Specific Gene Expression 292
CGG Repeat-Induced FMR1 Silencing Depends on the Expansion Size in Human iPSCs and Neurons Carrying Unmethylated Full Mutations 267
Mild beckwith-wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p. 198
Replication of association of CHRNA4 rare variants with sporadic amyotrophic lateral sclerosis: The Italian multicentre study 161
Chromosome 9p deletion syndrome and sex reversal: novel findings and redefinition of the critically deleted regions. 127
A double-blind, parallel, multicenter comparison of L-acetylcarnitine with placebo on the attention deficit hyperactivity disorder in fragile X syndrome boys 126
A unique case of reversion to normal size of a maternal premutation FMR1 allele in a normal boy 116
Salbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: relevance for clinical trial design. 116
Hypo-phosphorylation of salivary peptidome a clue to the molecular pathogenesis of autism spectrum disorders 115
SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR. 114
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. 109
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype 105
A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus 104
Genome-wide methylation analysis demonstrates that 5-aza-2-deoxycytidine treatment does not cause random DNA demethylation in fragile X syndrome cells 102
Mesenchymal stromal cells multipotency and plasticity: induction toward the hepatic lineage. 102
Constitutional trisomy 8 and myelodysplasia: report of a case and review of the literature 98
Lim Mineralization Protein 3 induces the osteogenic differentiation of Human Amniotic Fluid Stromal Cells through Kruppel-like Factor-4 down-regulation and further bone-specific gene expression 98
A case of 45, X male: genetic evaluation and hormonal and metabolic follow-up in adult age. 97
Modest reactivation of the mutatnt FMR1 gene by valproic acid is accompanied by histone modifications but not DNA demethylation. 97
Biomarkers in rare disorders: the experience with spinal muscular atrophy 96
A premature infant with Costello syndrome due to a rare G13C HRAS mutation 96
Treatment with Valproic acid ameiorates ADHD symptoms in Fragile X syndrome boys. 94
Insertion of 16 amino acids in the BAR domain of the oligophrenin 1 protein causes mental retardation and cerebellar hypoplasia in an Italian family 94
Salbutamol increases serviva motor neuron (SMN) patients: relevance for clinical trial design 94
The ring 14 syndrome 93
Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16 92
Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes 91
DNA Methylation in the Diagnosis of Monogenic Diseases. 91
Prevalence of spinocellulart ataxia type 2 mutation among ittalian Parkinsonian patients 90
Classification of familial amyotrophic lateral sclerosis by family history: effects on frequency of genes mutation 90
The Simpson-Golabi-Behmel syndrome: a clinical case and a detective story 90
Cardio-Facio-cutaneous syndrome: phenotypic variability and differential diagnosis in 3 cases with de novo BRAF mutations 90
A history of mental retardation 89
Assisted reproductive technology and congenital overgrowth:some speculations on a case of Pallister-Killian syndrome 89
L-acetylcarnitine treatment on fragile X patients hyperactive behaviour 88
Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis. 88
Deletions in the SMN gene in infantile and adult spinal muscular atrophy patients from the same family 88
Familial microsatellite-stable non-polyposis colorectal cancer: incidence and characteristics in a clinic-based population 87
Simpson–Golabi–Behmel syndrome in a female: A case report and an unsolved issue 86
Defining the role of the CGGBP1 protein in FMR1 gene expression 84
Costello syndrome: further clinical delineation, natural history, genetic definition, and nosology 82
Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy. 81
Long time no see: the type and contre-type concept 80
Involvement of MBD4 inactivation in mismatch repair-deficient tumorigenesis. 79
Erratum to: Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects. 79
Salbutamol increases SMN mRNA and protein levels in spinal muscular atrophy cells 78
-Electroclinical patterns and evolution of epilepsy in the 4p- syndrome 77
Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome 76
Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome 76
On the nosology and pathogenesis of Wolf-Hirschhorn sindrome: genotype-phenotype correlation analysis of 80 patients and literature review. 76
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype 76
A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome 76
Diversity parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome 76
TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype 76
The 312N variant of the luteinizing hormone/choriogonadotropin receptor gene (LHCGR) confers up to 2·7-fold increased risk of polycystic ovary syndrome in a Sardinian population 74
Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes 74
Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): report of a new case 73
Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome 72
No Correlation between X Chromosome Inactivation Pattern and Autistic Spectrum Disorders in an Italian Cohort of Patients 71
A split hand-split foot (SHFM3) gene is located at 10q24-->25 70
Simpson-Golabi-Behmel syndrome type 1 in a 27-week macrosomic preterm newborn: the diagnostic value of rib malformations and index nail and finger hypoplasia. 70
Defective oxytocin function: a clue to understanding the cause of autism 69
The FRAXopathies: Definition, overview, and update 69
A case of 45,X male: genetic reevaluation and hormonal and metabolic follow-up in adult age 69
New XLMR syndrome with characteristic face, hypogenitalism, congenital hypotonia and pachygyria 69
Erratum to: Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects. 69
A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus. 68
Three unrelated patients with congenital anterior pituitary aplasia and a characteristic physical and neuropsychological phenotype: a new syndrome? 68
Reversion to Normal of FMR1 Expanded Alleles: A Rare Event in Two Independent Fragile X Syndrome Families 68
Quantitative analysis of DNA demethylation and transcriptional reactivation of the FMR1gene in fragile X cells treated with 5-aza-deoxycitidine 66
Unexpected finding of paternal premutation of the fragile X FMR1 gene in a female fetus of a premutation carrier mother 65
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. 64
A premature infant with Costello syndrome due to a rare G13C HRAS mutation. 63
High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpoints. 62
Morphology and immunophenotyping of a monolateral ovotestis in a 46,XderY/45,X mosaic individual with ambiguous genitalia 62
Detection of the survival motor neuron (SMN) genes by FISH: Further evidence for a role for SMN2 in the modulation of disease severity in SMA patients 62
SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations. 61
A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome 61
The mGluR5 antagonist AFQ056 does not affect methylation and transcription of the mutant FMR1 gene in vitro. 61
ATP1A3 mutant patient with alternating hemiplegia of childhood and brain spectroscopic abnormalities. 61
Distal phalangeal creases: More evidence of this feature in disorders of the Ras signaling pathway. 60
Sex reversal from functional disomy of Xp: prenatal and post-mortem findings. 60
Pervasive developmental disorder and epilepsy due to maternally derived duplication of 15q11-q13 60
SMN protein analysis in fibroblast, amniocyte and CVS cultures from spinal muscular atrophy patients and its relevance for diagnosis 59
Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumour. 59
Recognizable facial features in patients with alternating hemiplegia of childhood. 59
The inv dup(15) syndrome: a clinically recognizable syndrome with altered behavior, mental retardation, and epilepsy 58
Further evidence that the rs1858830 C variant in the promoter region of the MET gene is associated with autistic disorder 58
Linguistic and psychomotor development in children with chromosome 14 deletions. 58
Fragile X syndrome: causes, diagnosis, mechanisms, and theraupetics. 58
Epigenetic analysis reveals a euchromatic configuration in the FMR1 unmethylated full mutations. 57
Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I 57
Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome. 57
Germinal mosaicism for a deletion of the FMR1 gene leading to fragile X syndrome 57
Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome. 56
A girl with a 14.7 Mb 3q26.32-q28 duplication: A new report of 3q duplication syndrome and a literature review 56
ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons 56
Totale 9.270
Categoria #
all - tutte 35.189
article - articoli 0
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 35.189


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/2019352 0 0 0 0 0 0 0 0 0 80 147 125
2019/20201.782 390 72 113 174 101 165 174 40 104 87 208 154
2020/20211.361 52 159 46 161 189 70 201 20 170 63 211 19
2021/20221.202 104 137 22 74 81 43 34 182 47 60 177 241
2022/20232.606 342 421 188 375 204 302 105 230 305 33 67 34
2023/2024925 47 381 61 93 49 152 88 29 17 8 0 0
Totale 10.896