IRIS UniCatt

Neri, Giovanni
 Distribuzione geografica
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Continente #
NA - Nord America 6.117
EU - Europa 5.559
AS - Asia 4.153
SA - Sud America 901
AF - Africa 97
OC - Oceania 14
Continente sconosciuto - Info sul continente non disponibili 3
Totale 16.844
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Nazione #
US - Stati Uniti d'America 5.987
SG - Singapore 1.823
DE - Germania 1.532
CN - Cina 1.436
SE - Svezia 979
BR - Brasile 749
PL - Polonia 711
UA - Ucraina 678
IT - Italia 413
IE - Irlanda 261
FR - Francia 241
GB - Regno Unito 200
FI - Finlandia 178
VN - Vietnam 160
ID - Indonesia 157
RU - Federazione Russa 155
IN - India 127
TR - Turchia 100
HK - Hong Kong 78
CA - Canada 65
AR - Argentina 59
NL - Olanda 48
BD - Bangladesh 47
JP - Giappone 47
MX - Messico 38
BE - Belgio 37
IQ - Iraq 33
ZA - Sudafrica 29
AT - Austria 28
ES - Italia 28
PK - Pakistan 20
KR - Corea 19
VE - Venezuela 18
CI - Costa d'Avorio 17
EC - Ecuador 16
IR - Iran 16
SA - Arabia Saudita 16
CO - Colombia 15
CL - Cile 12
KE - Kenya 11
PY - Paraguay 11
EG - Egitto 10
MA - Marocco 10
AU - Australia 9
AE - Emirati Arabi Uniti 8
CH - Svizzera 8
PE - Perù 8
UZ - Uzbekistan 8
CZ - Repubblica Ceca 7
IL - Israele 7
JO - Giordania 7
LT - Lituania 7
UY - Uruguay 7
AL - Albania 6
BO - Bolivia 6
KZ - Kazakistan 6
AZ - Azerbaigian 5
BZ - Belize 5
CR - Costa Rica 5
JM - Giamaica 5
TN - Tunisia 5
BH - Bahrain 4
BY - Bielorussia 4
GA - Gabon 4
NP - Nepal 4
RO - Romania 4
TT - Trinidad e Tobago 4
AO - Angola 3
BG - Bulgaria 3
GT - Guatemala 3
KG - Kirghizistan 3
KW - Kuwait 3
LV - Lettonia 3
MT - Malta 3
NO - Norvegia 3
PH - Filippine 3
PT - Portogallo 3
AM - Armenia 2
DO - Repubblica Dominicana 2
ET - Etiopia 2
EU - Europa 2
GR - Grecia 2
HU - Ungheria 2
LA - Repubblica Popolare Democratica del Laos 2
LK - Sri Lanka 2
LU - Lussemburgo 2
MD - Moldavia 2
NZ - Nuova Zelanda 2
OM - Oman 2
PS - Palestinian Territory 2
RS - Serbia 2
SK - Slovacchia (Repubblica Slovacca) 2
TH - Thailandia 2
TW - Taiwan 2
A1 - Anonimo 1
BA - Bosnia-Erzegovina 1
BB - Barbados 1
CM - Camerun 1
DK - Danimarca 1
EE - Estonia 1
Totale 16.828
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Città #
Chandler 880
Singapore 698
Warsaw 667
Ashburn 653
Jacksonville 350
San Mateo 260
Dublin 257
Nanjing 244
Beijing 234
Woodbridge 227
Ann Arbor 215
Wilmington 206
Fairfield 162
Jakarta 151
Hefei 137
Seattle 134
Houston 132
Boston 115
New York 111
Nanchang 110
Los Angeles 104
Munich 98
Lawrence 94
Moscow 91
Dearborn 77
Izmir 76
São Paulo 75
Hong Kong 73
Cattolica 72
Nürnberg 72
Milan 67
Frankfurt am Main 60
Cambridge 59
Redwood City 57
Buffalo 55
Rome 52
Kunming 47
Chicago 46
Ho Chi Minh City 44
Tianjin 44
Boardman 43
Dallas 42
Kent 42
Princeton 42
University Park 42
Zhengzhou 40
Hebei 38
Changsha 37
Hanoi 37
Marseille 37
Shenyang 35
Brussels 34
Hangzhou 34
Jiaxing 34
Norwalk 34
Bremen 33
Mountain View 33
Redmond 33
Helsinki 31
Tokyo 30
Kraków 28
Santa Clara 27
Guangzhou 26
Nuremberg 26
Rio de Janeiro 26
Lancaster 25
Fremont 23
London 23
Detroit 21
Phoenix 19
Simi Valley 19
Shanghai 18
Belo Horizonte 17
Falls Church 17
Montreal 17
Seoul 17
Abidjan 16
Curitiba 16
Leawood 16
Philadelphia 16
Elkhart 15
Jinan 15
Ottawa 14
The Dalles 14
Brasília 13
Brooklyn 13
Johannesburg 13
Pune 13
San Francisco 13
Turku 13
Vienna 13
Baghdad 12
Stockholm 12
Augusta 11
Bexley 11
Cincinnati 11
Düsseldorf 11
San Jose 11
Toronto 11
Denver 10
Totale 8.699
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Nome #
Chromosome 9p deletion syndrome and sex reversal: novel findings and redefinition of the critically deleted regions 404
Molecular, clinical, and muscle studies in myotonic dystrophy type 1 (DM1) associated with novel variant CCG expansions 396
Transcriptional reactivation of the FMR1 Gene. A possible approach to the treatment of the fragile X syndrome 354
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 327
CGG Repeat-Induced FMR1 Silencing Depends on the Expansion Size in Human iPSCs and Neurons Carrying Unmethylated Full Mutations 313
Mild beckwith-wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p. 248
Replication of association of CHRNA4 rare variants with sporadic amyotrophic lateral sclerosis: The Italian multicentre study 189
A double-blind, parallel, multicenter comparison of L-acetylcarnitine with placebo on the attention deficit hyperactivity disorder in fragile X syndrome boys 176
A unique case of reversion to normal size of a maternal premutation FMR1 allele in a normal boy 171
Chromosome 9p deletion syndrome and sex reversal: novel findings and redefinition of the critically deleted regions. 171
DNA Methylation in the Diagnosis of Monogenic Diseases. 169
Hypo-phosphorylation of salivary peptidome a clue to the molecular pathogenesis of autism spectrum disorders 166
SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR. 162
Salbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: relevance for clinical trial design. 161
Genome-wide methylation analysis demonstrates that 5-aza-2-deoxycytidine treatment does not cause random DNA demethylation in fragile X syndrome cells 158
A case of 45, X male: genetic evaluation and hormonal and metabolic follow-up in adult age. 152
L-acetylcarnitine treatment on fragile X patients hyperactive behaviour 151
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. 151
Biomarkers in rare disorders: the experience with spinal muscular atrophy 146
Treatment with Valproic acid ameiorates ADHD symptoms in Fragile X syndrome boys. 145
Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16 145
A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus 140
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype 140
Prevalence of spinocellulart ataxia type 2 mutation among ittalian Parkinsonian patients 139
Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis. 139
Simpson–Golabi–Behmel syndrome in a female: A case report and an unsolved issue 139
Mesenchymal stromal cells multipotency and plasticity: induction toward the hepatic lineage. 139
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 138
A premature infant with Costello syndrome due to a rare G13C HRAS mutation 137
Assisted reproductive technology and congenital overgrowth:some speculations on a case of Pallister-Killian syndrome 137
Cardio-Facio-cutaneous syndrome: phenotypic variability and differential diagnosis in 3 cases with de novo BRAF mutations 137
Erratum to: Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects. 137
Defining the role of the CGGBP1 protein in FMR1 gene expression 135
Modest reactivation of the mutatnt FMR1 gene by valproic acid is accompanied by histone modifications but not DNA demethylation. 133
Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes 133
Deletions in the SMN gene in infantile and adult spinal muscular atrophy patients from the same family 132
Classification of familial amyotrophic lateral sclerosis by family history: effects on frequency of genes mutation 132
The Simpson-Golabi-Behmel syndrome: a clinical case and a detective story 132
Salbutamol increases serviva motor neuron (SMN) patients: relevance for clinical trial design 132
The ring 14 syndrome 132
Insertion of 16 amino acids in the BAR domain of the oligophrenin 1 protein causes mental retardation and cerebellar hypoplasia in an Italian family 131
Salbutamol increases SMN mRNA and protein levels in spinal muscular atrophy cells 130
Constitutional trisomy 8 and myelodysplasia: report of a case and review of the literature 130
A case of 45,X male: genetic reevaluation and hormonal and metabolic follow-up in adult age 128
TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype 128
A history of mental retardation 124
Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy. 124
Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome 123
Mother and Daughter Carrying of the Same Pathogenic Variant in FGFR2 with Discordant Phenotype 122
Familial microsatellite-stable non-polyposis colorectal cancer: incidence and characteristics in a clinic-based population 122
Co-occurrence of fragile x syndrome with a second genetic condition: Three independent cases of double diagnosis 121
Unexpected finding of paternal premutation of the fragile X FMR1 gene in a female fetus of a premutation carrier mother 120
On the nosology and pathogenesis of Wolf-Hirschhorn sindrome: genotype-phenotype correlation analysis of 80 patients and literature review. 120
Costello syndrome: further clinical delineation, natural history, genetic definition, and nosology 120
Long time no see: the type and contre-type concept 119
-Electroclinical patterns and evolution of epilepsy in the 4p- syndrome 118
Erratum to: Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects. 118
Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome 117
Diversity parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome 117
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. 117
ATP1A3 mutant patient with alternating hemiplegia of childhood and brain spectroscopic abnormalities. 116
A split hand-split foot (SHFM3) gene is located at 10q24-->25 114
No Correlation between X Chromosome Inactivation Pattern and Autistic Spectrum Disorders in an Italian Cohort of Patients 113
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 113
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype 112
Involvement of MBD4 inactivation in mismatch repair-deficient tumorigenesis. 111
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 110
A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus. 110
Defective oxytocin function: a clue to understanding the cause of autism 109
The FRAXopathies: Definition, overview, and update 109
Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome 108
A premature infant with Costello syndrome due to a rare G13C HRAS mutation. 108
The mGluR5 antagonist AFQ056 does not affect methylation and transcription of the mutant FMR1 gene in vitro. 108
Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes 108
High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpoints. 104
The inv dup(15) syndrome: a clinically recognizable syndrome with altered behavior, mental retardation, and epilepsy 104
Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I 104
Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): report of a new case 104
Reversion to Normal of FMR1 Expanded Alleles: A Rare Event in Two Independent Fragile X Syndrome Families 104
Quantitative analysis of DNA demethylation and transcriptional reactivation of the FMR1gene in fragile X cells treated with 5-aza-deoxycitidine 103
SMN protein analysis in fibroblast, amniocyte and CVS cultures from spinal muscular atrophy patients and its relevance for diagnosis 103
A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome 103
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. 102
A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome 101
Morphology and immunophenotyping of a monolateral ovotestis in a 46,XderY/45,X mosaic individual with ambiguous genitalia 100
Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome. 100
New XLMR syndrome with characteristic face, hypogenitalism, congenital hypotonia and pachygyria 100
Sex reversal from functional disomy of Xp: prenatal and post-mortem findings. 99
Elements of morphology: standard terminology for the head and face 97
A missense mutation in CASK causes FG syndrome in an Italian family. 97
Germinal mosaicism for a deletion of the FMR1 gene leading to fragile X syndrome 97
ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons 96
Pervasive developmental disorder and epilepsy due to maternally derived duplication of 15q11-q13 95
Fragile X syndrome: causes, diagnosis, mechanisms, and theraupetics. 95
Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome. 94
Three unrelated patients with congenital anterior pituitary aplasia and a characteristic physical and neuropsychological phenotype: a new syndrome? 94
DNA Methylation, Mechanisms of FMR1 Inactivation and Therapeutic Perspectives for Fragile X Syndrome 94
Autism and intellectual disability: two sides of the same coin. 93
Linguistic and psychomotor development in children with chromosome 14 deletions. 93
Recognizable facial features in patients with alternating hemiplegia of childhood. 93
Totale 13.605
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Categoria #
all - tutte 68.533
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 68.533
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021754 0 0 0 0 0 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
2023/20241.220 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
2025/20263.300 1.078 223 411 598 922 68 0 0 0 0 0 0
Totale 16.915