IRIS UniCatt

Neri, Giovanni
 Distribuzione geografica
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Continente #
NA - Nord America 7.146
EU - Europa 5.851
AS - Asia 5.152
SA - Sud America 972
AF - Africa 128
OC - Oceania 23
Continente sconosciuto - Info sul continente non disponibili 3
Totale 19.275
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Nazione #
US - Stati Uniti d'America 6.979
SG - Singapore 2.223
DE - Germania 1.555
CN - Cina 1.504
SE - Svezia 982
BR - Brasile 793
PL - Polonia 718
UA - Ucraina 680
IT - Italia 455
VN - Vietnam 440
FR - Francia 376
IE - Irlanda 264
GB - Regno Unito 229
FI - Finlandia 208
IN - India 164
ID - Indonesia 160
RU - Federazione Russa 158
HK - Hong Kong 120
JP - Giappone 115
TR - Turchia 108
CA - Canada 83
AR - Argentina 67
BD - Bangladesh 65
NL - Olanda 55
IQ - Iraq 54
MX - Messico 50
ZA - Sudafrica 38
BE - Belgio 37
PK - Pakistan 33
AT - Austria 29
ES - Italia 29
VE - Venezuela 24
CO - Colombia 21
KR - Corea 21
SA - Arabia Saudita 21
EC - Ecuador 20
AU - Australia 18
CI - Costa d'Avorio 17
IR - Iran 16
KE - Kenya 16
MA - Marocco 15
CL - Cile 14
EG - Egitto 13
PY - Paraguay 12
AE - Emirati Arabi Uniti 11
JO - Giordania 11
PH - Filippine 10
CH - Svizzera 9
CR - Costa Rica 8
CZ - Repubblica Ceca 8
IL - Israele 8
PE - Perù 8
UZ - Uzbekistan 8
AZ - Azerbaigian 7
BH - Bahrain 7
LT - Lituania 7
UY - Uruguay 7
AL - Albania 6
BO - Bolivia 6
JM - Giamaica 6
KZ - Kazakistan 6
TN - Tunisia 6
BZ - Belize 5
GA - Gabon 5
NP - Nepal 5
RO - Romania 5
AO - Angola 4
BG - Bulgaria 4
BY - Bielorussia 4
MY - Malesia 4
RS - Serbia 4
TH - Thailandia 4
TT - Trinidad e Tobago 4
GT - Guatemala 3
KG - Kirghizistan 3
KW - Kuwait 3
LK - Sri Lanka 3
LV - Lettonia 3
MT - Malta 3
NO - Norvegia 3
PA - Panama 3
PS - Palestinian Territory 3
PT - Portogallo 3
SN - Senegal 3
AM - Armenia 2
CG - Congo 2
DO - Repubblica Dominicana 2
ET - Etiopia 2
EU - Europa 2
GR - Grecia 2
HN - Honduras 2
HU - Ungheria 2
LA - Repubblica Popolare Democratica del Laos 2
LU - Lussemburgo 2
MD - Moldavia 2
MM - Myanmar 2
MN - Mongolia 2
NZ - Nuova Zelanda 2
OM - Oman 2
SK - Slovacchia (Repubblica Slovacca) 2
Totale 19.251
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Città #
Singapore 1.061
Chandler 880
Ashburn 864
Warsaw 674
San Jose 501
Jacksonville 350
Dublin 260
San Mateo 260
Beijing 244
Nanjing 244
Woodbridge 227
Ann Arbor 215
Wilmington 206
Fairfield 162
Jakarta 151
Ho Chi Minh City 138
Hefei 137
Houston 135
Seattle 135
Lauterbourg 132
New York 122
Los Angeles 121
Boston 117
Nanchang 110
Hanoi 105
Hong Kong 103
Munich 98
Tokyo 97
Lawrence 94
Moscow 91
Frankfurt am Main 78
Dearborn 77
Izmir 76
São Paulo 76
Cattolica 72
Nürnberg 72
Milan 70
Helsinki 61
Cambridge 59
Rome 59
Redwood City 57
Buffalo 56
Chicago 55
Kunming 47
Santa Clara 44
Tianjin 44
Boardman 43
Council Bluffs 43
Kent 43
Dallas 42
Princeton 42
University Park 42
Zhengzhou 40
Hebei 38
Changsha 37
Marseille 37
Shenyang 36
Brussels 34
Hangzhou 34
Jiaxing 34
Norwalk 34
Bremen 33
Mountain View 33
Redmond 33
Guangzhou 30
Kraków 28
London 28
Nuremberg 28
Rio de Janeiro 28
Da Nang 25
Lancaster 25
The Dalles 25
Fremont 23
Shanghai 23
Montreal 22
Orem 22
Detroit 21
Phoenix 20
Baghdad 19
Simi Valley 19
Belo Horizonte 18
Johannesburg 18
Falls Church 17
Seoul 17
Abidjan 16
Atlanta 16
Chennai 16
Curitiba 16
Leawood 16
Philadelphia 16
Elkhart 15
Jinan 15
Poplar 15
Stockholm 15
Amsterdam 14
Brasília 14
New Delhi 14
Ottawa 14
Paris 14
Pune 14
Totale 10.411
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Nome #
Molecular, clinical, and muscle studies in myotonic dystrophy type 1 (DM1) associated with novel variant CCG expansions 449
Chromosome 9p deletion syndrome and sex reversal: novel findings and redefinition of the critically deleted regions 443
Transcriptional reactivation of the FMR1 Gene. A possible approach to the treatment of the fragile X syndrome 389
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 341
CGG Repeat-Induced FMR1 Silencing Depends on the Expansion Size in Human iPSCs and Neurons Carrying Unmethylated Full Mutations 332
Mild beckwith-wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p. 270
DNA Methylation in the Diagnosis of Monogenic Diseases. 206
Replication of association of CHRNA4 rare variants with sporadic amyotrophic lateral sclerosis: The Italian multicentre study 204
A double-blind, parallel, multicenter comparison of L-acetylcarnitine with placebo on the attention deficit hyperactivity disorder in fragile X syndrome boys 200
A unique case of reversion to normal size of a maternal premutation FMR1 allele in a normal boy 191
Chromosome 9p deletion syndrome and sex reversal: novel findings and redefinition of the critically deleted regions. 191
L-acetylcarnitine treatment on fragile X patients hyperactive behaviour 184
Hypo-phosphorylation of salivary peptidome a clue to the molecular pathogenesis of autism spectrum disorders 183
Genome-wide methylation analysis demonstrates that 5-aza-2-deoxycytidine treatment does not cause random DNA demethylation in fragile X syndrome cells 181
A case of 45, X male: genetic evaluation and hormonal and metabolic follow-up in adult age. 178
SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR. 176
Salbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: relevance for clinical trial design. 174
Defining the role of the CGGBP1 protein in FMR1 gene expression 171
Mother and Daughter Carrying of the Same Pathogenic Variant in FGFR2 with Discordant Phenotype 166
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. 166
Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16 164
Treatment with Valproic acid ameiorates ADHD symptoms in Fragile X syndrome boys. 162
Mesenchymal stromal cells multipotency and plasticity: induction toward the hepatic lineage. 161
Biomarkers in rare disorders: the experience with spinal muscular atrophy 160
The ring 14 syndrome 160
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype 159
Erratum to: Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects. 159
Prevalence of spinocellulart ataxia type 2 mutation among ittalian Parkinsonian patients 156
Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes 156
Salbutamol increases SMN mRNA and protein levels in spinal muscular atrophy cells 155
A premature infant with Costello syndrome due to a rare G13C HRAS mutation 155
A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus 154
Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis. 154
Assisted reproductive technology and congenital overgrowth:some speculations on a case of Pallister-Killian syndrome 154
Simpson–Golabi–Behmel syndrome in a female: A case report and an unsolved issue 152
Classification of familial amyotrophic lateral sclerosis by family history: effects on frequency of genes mutation 150
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 149
TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype 148
Insertion of 16 amino acids in the BAR domain of the oligophrenin 1 protein causes mental retardation and cerebellar hypoplasia in an Italian family 147
Co-occurrence of fragile x syndrome with a second genetic condition: Three independent cases of double diagnosis 147
Deletions in the SMN gene in infantile and adult spinal muscular atrophy patients from the same family 146
Cardio-Facio-cutaneous syndrome: phenotypic variability and differential diagnosis in 3 cases with de novo BRAF mutations 146
Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome 144
Constitutional trisomy 8 and myelodysplasia: report of a case and review of the literature 144
The Simpson-Golabi-Behmel syndrome: a clinical case and a detective story 144
Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy. 143
A case of 45,X male: genetic reevaluation and hormonal and metabolic follow-up in adult age 143
ATP1A3 mutant patient with alternating hemiplegia of childhood and brain spectroscopic abnormalities. 143
Unexpected finding of paternal premutation of the fragile X FMR1 gene in a female fetus of a premutation carrier mother 142
Salbutamol increases serviva motor neuron (SMN) patients: relevance for clinical trial design 142
Modest reactivation of the mutatnt FMR1 gene by valproic acid is accompanied by histone modifications but not DNA demethylation. 140
Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome 138
A split hand-split foot (SHFM3) gene is located at 10q24-->25 138
A history of mental retardation 137
Familial microsatellite-stable non-polyposis colorectal cancer: incidence and characteristics in a clinic-based population 137
On the nosology and pathogenesis of Wolf-Hirschhorn sindrome: genotype-phenotype correlation analysis of 80 patients and literature review. 137
Costello syndrome: further clinical delineation, natural history, genetic definition, and nosology 137
Erratum to: Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects. 136
-Electroclinical patterns and evolution of epilepsy in the 4p- syndrome 133
ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons 133
DNA Methylation, Mechanisms of FMR1 Inactivation and Therapeutic Perspectives for Fragile X Syndrome 133
Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome 132
A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus. 132
Diversity parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome 130
Long time no see: the type and contre-type concept 129
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 128
Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I 128
No Correlation between X Chromosome Inactivation Pattern and Autistic Spectrum Disorders in an Italian Cohort of Patients 128
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. 128
Involvement of MBD4 inactivation in mismatch repair-deficient tumorigenesis. 126
The mGluR5 antagonist AFQ056 does not affect methylation and transcription of the mutant FMR1 gene in vitro. 125
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. 125
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype 124
Reversion to Normal of FMR1 Expanded Alleles: A Rare Event in Two Independent Fragile X Syndrome Families 124
Defective oxytocin function: a clue to understanding the cause of autism 123
The FRAXopathies: Definition, overview, and update 123
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 122
The inv dup(15) syndrome: a clinically recognizable syndrome with altered behavior, mental retardation, and epilepsy 121
Mitochondrial Dysfunction Causes Cell Death in Patients Affected by Fragile-X-Associated Disorders 120
A premature infant with Costello syndrome due to a rare G13C HRAS mutation. 120
High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpoints. 119
SMN protein analysis in fibroblast, amniocyte and CVS cultures from spinal muscular atrophy patients and its relevance for diagnosis 119
A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome 118
New XLMR syndrome with characteristic face, hypogenitalism, congenital hypotonia and pachygyria 118
Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes 118
Sex reversal from functional disomy of Xp: prenatal and post-mortem findings. 117
Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome. 116
Pervasive developmental disorder and epilepsy due to maternally derived duplication of 15q11-q13 115
Quantitative analysis of DNA demethylation and transcriptional reactivation of the FMR1gene in fragile X cells treated with 5-aza-deoxycitidine 115
Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): report of a new case 115
Germinal mosaicism for a deletion of the FMR1 gene leading to fragile X syndrome 115
Elements of morphology: standard terminology for the head and face 113
Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome. 113
SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations. 113
A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome 112
A missense mutation in CASK causes FG syndrome in an Italian family. 110
XLMR genes: update 2007 110
Morphology and immunophenotyping of a monolateral ovotestis in a 46,XderY/45,X mosaic individual with ambiguous genitalia 109
Recognizable facial features in patients with alternating hemiplegia of childhood. 109
Autism and intellectual disability: two sides of the same coin. 108
Totale 15.503
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Categoria #
all - tutte 73.695
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 73.695
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021293 0 0 0 0 0 0 0 0 0 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
2023/20241.220 47 381 61 93 49 152 88 29 17 44 99 160
2024/20252.424 69 78 182 84 169 69 42 143 438 182 513 455
2025/20265.778 1.078 223 411 598 922 466 1.080 302 407 291 0 0
Totale 19.393