IRIS UniCatt

Neri, Giovanni
 Distribuzione geografica
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Continente #
EU - Europa 5.226
NA - Nord America 5.219
AS - Asia 2.179
SA - Sud America 347
AF - Africa 40
OC - Oceania 10
Continente sconosciuto - Info sul continente non disponibili 3
Totale 13.024
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Nazione #
US - Stati Uniti d'America 5.167
DE - Germania 1.456
SE - Svezia 971
CN - Cina 963
SG - Singapore 740
PL - Polonia 689
UA - Ucraina 673
IT - Italia 387
BR - Brasile 318
IE - Irlanda 260
FR - Francia 190
FI - Finlandia 164
ID - Indonesia 153
RU - Federazione Russa 142
GB - Regno Unito 134
TR - Turchia 85
IN - India 84
NL - Olanda 40
BE - Belgio 37
CA - Canada 36
HK - Hong Kong 34
JP - Giappone 21
AT - Austria 20
KR - Corea 18
CI - Costa d'Avorio 15
VN - Vietnam 15
IR - Iran 14
ES - Italia 12
AU - Australia 8
BD - Bangladesh 8
CH - Svizzera 7
CZ - Repubblica Ceca 7
MA - Marocco 7
MX - Messico 7
AR - Argentina 6
EG - Egitto 6
LT - Lituania 6
PK - Pakistan 6
BZ - Belize 5
IL - Israele 5
ZA - Sudafrica 5
AE - Emirati Arabi Uniti 4
CL - Cile 4
KZ - Kazakistan 4
PE - Perù 4
VE - Venezuela 4
BG - Bulgaria 3
BO - Bolivia 3
CO - Colombia 3
EC - Ecuador 3
GA - Gabon 3
KG - Kirghizistan 3
LV - Lettonia 3
MT - Malta 3
NO - Norvegia 3
PH - Filippine 3
PT - Portogallo 3
RO - Romania 3
AL - Albania 2
AZ - Azerbaigian 2
EU - Europa 2
HU - Ungheria 2
JM - Giamaica 2
KW - Kuwait 2
LA - Repubblica Popolare Democratica del Laos 2
LK - Sri Lanka 2
LU - Lussemburgo 2
MD - Moldavia 2
NZ - Nuova Zelanda 2
PY - Paraguay 2
SA - Arabia Saudita 2
TH - Thailandia 2
A1 - Anonimo 1
AM - Armenia 1
BY - Bielorussia 1
CM - Camerun 1
DO - Repubblica Dominicana 1
EE - Estonia 1
GR - Grecia 1
HR - Croazia 1
IQ - Iraq 1
JO - Giordania 1
KE - Kenya 1
MY - Malesia 1
NG - Nigeria 1
PS - Palestinian Territory 1
SK - Slovacchia (Repubblica Slovacca) 1
TN - Tunisia 1
TT - Trinidad e Tobago 1
TW - Taiwan 1
UZ - Uzbekistan 1
Totale 13.024
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Città #
Chandler 880
Warsaw 652
Ashburn 476
Singapore 385
Jacksonville 349
San Mateo 260
Dublin 256
Nanjing 243
Woodbridge 227
Ann Arbor 215
Wilmington 206
Fairfield 162
Jakarta 150
Seattle 131
Houston 125
Nanchang 110
Boston 109
Lawrence 94
Moscow 88
New York 86
Dearborn 77
Izmir 75
Cattolica 72
Nürnberg 72
Beijing 66
Munich 65
Milan 64
Cambridge 59
Redwood City 57
Kunming 47
Los Angeles 47
Tianjin 44
Boardman 43
Princeton 42
Rome 42
University Park 42
Zhengzhou 40
Hebei 38
Changsha 37
Marseille 37
Shenyang 35
Brussels 34
Jiaxing 34
Norwalk 34
Bremen 33
Hangzhou 33
Mountain View 33
Chicago 32
Redmond 32
Helsinki 31
Hong Kong 30
Kraków 28
Guangzhou 26
Frankfurt am Main 24
Lancaster 24
Fremont 23
São Paulo 23
Detroit 21
Hefei 20
Nuremberg 20
Simi Valley 19
Shanghai 18
Falls Church 17
Seoul 17
Leawood 16
Abidjan 15
Jinan 15
London 15
Santa Clara 15
Ottawa 12
Düsseldorf 11
Philadelphia 11
Pune 11
Augusta 10
Belo Horizonte 10
Toronto 10
Indiana 9
Phoenix 9
The Dalles 9
Vienna 9
Washington 9
North Bergen 8
Rio de Janeiro 8
San Francisco 8
Auburn Hills 7
Brasília 7
Dong Ket 7
Florence 7
Ningbo 7
San Jose 7
Bologna 6
Brno 6
Changchun 6
Lanzhou 6
Montreal 6
Prineville 6
Altamura 5
Barcelona 5
Belize City 5
Boydton 5
Totale 7.229
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Nome #
Molecular, clinical, and muscle studies in myotonic dystrophy type 1 (DM1) associated with novel variant CCG expansions 371
Chromosome 9p deletion syndrome and sex reversal: novel findings and redefinition of the critically deleted regions 357
Transcriptional reactivation of the FMR1 Gene. A possible approach to the treatment of the fragile X syndrome 325
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 305
CGG Repeat-Induced FMR1 Silencing Depends on the Expansion Size in Human iPSCs and Neurons Carrying Unmethylated Full Mutations 289
Mild beckwith-wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p. 221
Replication of association of CHRNA4 rare variants with sporadic amyotrophic lateral sclerosis: The Italian multicentre study 168
A double-blind, parallel, multicenter comparison of L-acetylcarnitine with placebo on the attention deficit hyperactivity disorder in fragile X syndrome boys 152
Chromosome 9p deletion syndrome and sex reversal: novel findings and redefinition of the critically deleted regions. 147
Salbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: relevance for clinical trial design. 139
A unique case of reversion to normal size of a maternal premutation FMR1 allele in a normal boy 137
Hypo-phosphorylation of salivary peptidome a clue to the molecular pathogenesis of autism spectrum disorders 136
SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR. 129
Genome-wide methylation analysis demonstrates that 5-aza-2-deoxycytidine treatment does not cause random DNA demethylation in fragile X syndrome cells 128
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. 127
DNA Methylation in the Diagnosis of Monogenic Diseases. 122
A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus 118
Treatment with Valproic acid ameiorates ADHD symptoms in Fragile X syndrome boys. 117
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype 117
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 117
A case of 45, X male: genetic evaluation and hormonal and metabolic follow-up in adult age. 116
Biomarkers in rare disorders: the experience with spinal muscular atrophy 115
Modest reactivation of the mutatnt FMR1 gene by valproic acid is accompanied by histone modifications but not DNA demethylation. 114
Mesenchymal stromal cells multipotency and plasticity: induction toward the hepatic lineage. 114
A premature infant with Costello syndrome due to a rare G13C HRAS mutation 113
Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16 113
Constitutional trisomy 8 and myelodysplasia: report of a case and review of the literature 113
L-acetylcarnitine treatment on fragile X patients hyperactive behaviour 112
Cardio-Facio-cutaneous syndrome: phenotypic variability and differential diagnosis in 3 cases with de novo BRAF mutations 112
Salbutamol increases serviva motor neuron (SMN) patients: relevance for clinical trial design 111
The ring 14 syndrome 111
Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis. 108
Assisted reproductive technology and congenital overgrowth:some speculations on a case of Pallister-Killian syndrome 108
The Simpson-Golabi-Behmel syndrome: a clinical case and a detective story 107
Prevalence of spinocellulart ataxia type 2 mutation among ittalian Parkinsonian patients 106
Insertion of 16 amino acids in the BAR domain of the oligophrenin 1 protein causes mental retardation and cerebellar hypoplasia in an Italian family 106
Erratum to: Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects. 106
Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes 105
Defining the role of the CGGBP1 protein in FMR1 gene expression 105
Deletions in the SMN gene in infantile and adult spinal muscular atrophy patients from the same family 104
Simpson–Golabi–Behmel syndrome in a female: A case report and an unsolved issue 103
A history of mental retardation 101
Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy. 101
Familial microsatellite-stable non-polyposis colorectal cancer: incidence and characteristics in a clinic-based population 100
Classification of familial amyotrophic lateral sclerosis by family history: effects on frequency of genes mutation 100
Salbutamol increases SMN mRNA and protein levels in spinal muscular atrophy cells 97
Long time no see: the type and contre-type concept 95
-Electroclinical patterns and evolution of epilepsy in the 4p- syndrome 95
On the nosology and pathogenesis of Wolf-Hirschhorn sindrome: genotype-phenotype correlation analysis of 80 patients and literature review. 94
Diversity parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome 93
A case of 45,X male: genetic reevaluation and hormonal and metabolic follow-up in adult age 93
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype 92
Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome 92
Costello syndrome: further clinical delineation, natural history, genetic definition, and nosology 92
TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype 92
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. 92
A split hand-split foot (SHFM3) gene is located at 10q24-->25 91
Involvement of MBD4 inactivation in mismatch repair-deficient tumorigenesis. 90
Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome 89
Unexpected finding of paternal premutation of the fragile X FMR1 gene in a female fetus of a premutation carrier mother 89
Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome 88
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 88
No Correlation between X Chromosome Inactivation Pattern and Autistic Spectrum Disorders in an Italian Cohort of Patients 88
Erratum to: Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects. 88
A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome 86
Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): report of a new case 84
Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes 84
ATP1A3 mutant patient with alternating hemiplegia of childhood and brain spectroscopic abnormalities. 84
A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus. 83
The FRAXopathies: Definition, overview, and update 82
Quantitative analysis of DNA demethylation and transcriptional reactivation of the FMR1gene in fragile X cells treated with 5-aza-deoxycitidine 82
New XLMR syndrome with characteristic face, hypogenitalism, congenital hypotonia and pachygyria 82
Defective oxytocin function: a clue to understanding the cause of autism 81
A premature infant with Costello syndrome due to a rare G13C HRAS mutation. 80
Reversion to Normal of FMR1 Expanded Alleles: A Rare Event in Two Independent Fragile X Syndrome Families 80
The mGluR5 antagonist AFQ056 does not affect methylation and transcription of the mutant FMR1 gene in vitro. 78
A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome 77
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. 77
High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpoints. 76
Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I 76
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 76
Morphology and immunophenotyping of a monolateral ovotestis in a 46,XderY/45,X mosaic individual with ambiguous genitalia 75
Three unrelated patients with congenital anterior pituitary aplasia and a characteristic physical and neuropsychological phenotype: a new syndrome? 75
Sex reversal from functional disomy of Xp: prenatal and post-mortem findings. 74
Elements of morphology: standard terminology for the head and face 73
Pervasive developmental disorder and epilepsy due to maternally derived duplication of 15q11-q13 73
SMN protein analysis in fibroblast, amniocyte and CVS cultures from spinal muscular atrophy patients and its relevance for diagnosis 73
SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations. 73
Co-occurrence of fragile x syndrome with a second genetic condition: Three independent cases of double diagnosis 73
Distal phalangeal creases: More evidence of this feature in disorders of the Ras signaling pathway. 71
Fragile X syndrome: causes, diagnosis, mechanisms, and theraupetics. 71
Recognizable facial features in patients with alternating hemiplegia of childhood. 70
ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons 70
Mother and Daughter Carrying of the Same Pathogenic Variant in FGFR2 with Discordant Phenotype 69
Further evidence that the rs1858830 C variant in the promoter region of the MET gene is associated with autistic disorder 69
Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumour. 69
Oral-facial-digital syndromes:review and diagnostic guidelines 68
The terminal 760 kb region on 4p16 is unlikely to be the critical interval for growth delay in Wolf-Hirschhorn syndrome. 68
Epigenetic analysis reveals a euchromatic configuration in the FMR1 unmethylated full mutations. 68
The inv dup(15) syndrome: a clinically recognizable syndrome with altered behavior, mental retardation, and epilepsy 68
Totale 10.882
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Categoria #
all - tutte 55.789
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 55.789
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020362 0 0 0 0 0 0 0 0 0 0 208 154
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
2023/20241.220 47 381 61 93 49 152 88 29 17 44 99 160
2024/20251.904 69 78 182 84 169 69 42 143 438 182 448 0
Totale 13.095