IRIS UniCatt

Neri, Giovanni
 Distribuzione geografica
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Continente #
EU - Europa 5.155
NA - Nord America 5.117
AS - Asia 2.063
SA - Sud America 158
AF - Africa 33
OC - Oceania 10
Continente sconosciuto - Info sul continente non disponibili 3
Totale 12.539
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Nazione #
US - Stati Uniti d'America 5.084
DE - Germania 1.445
SE - Svezia 964
CN - Cina 924
SG - Singapore 701
PL - Polonia 684
UA - Ucraina 673
IT - Italia 373
IE - Irlanda 260
FR - Francia 179
FI - Finlandia 162
ID - Indonesia 152
BR - Brasile 139
RU - Federazione Russa 132
GB - Regno Unito 127
TR - Turchia 83
IN - India 82
NL - Olanda 38
BE - Belgio 37
HK - Hong Kong 34
CA - Canada 23
AT - Austria 20
JP - Giappone 20
CI - Costa d'Avorio 15
IR - Iran 13
ES - Italia 12
AU - Australia 8
VN - Vietnam 8
CH - Svizzera 7
CZ - Repubblica Ceca 7
MA - Marocco 6
PK - Pakistan 6
BZ - Belize 5
EG - Egitto 5
MX - Messico 5
AE - Emirati Arabi Uniti 4
BD - Bangladesh 4
CL - Cile 4
IL - Israele 4
KZ - Kazakistan 4
LT - Lituania 4
BG - Bulgaria 3
BO - Bolivia 3
CO - Colombia 3
KR - Corea 3
LV - Lettonia 3
MT - Malta 3
NO - Norvegia 3
PT - Portogallo 3
RO - Romania 3
AL - Albania 2
AR - Argentina 2
AZ - Azerbaigian 2
EC - Ecuador 2
EU - Europa 2
HU - Ungheria 2
KG - Kirghizistan 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
PE - Perù 2
PH - Filippine 2
SA - Arabia Saudita 2
TH - Thailandia 2
VE - Venezuela 2
ZA - Sudafrica 2
A1 - Anonimo 1
AM - Armenia 1
BY - Bielorussia 1
CM - Camerun 1
EE - Estonia 1
GA - Gabon 1
GR - Grecia 1
HR - Croazia 1
KE - Kenya 1
MY - Malesia 1
NG - Nigeria 1
PS - Palestinian Territory 1
PY - Paraguay 1
SK - Slovacchia (Repubblica Slovacca) 1
TN - Tunisia 1
TW - Taiwan 1
UZ - Uzbekistan 1
Totale 12.539
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Città #
Chandler 880
Warsaw 648
Ashburn 472
Singapore 379
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 108
Lawrence 94
Moscow 87
New York 79
Dearborn 77
Izmir 75
Cattolica 72
Nürnberg 72
Beijing 66
Munich 64
Cambridge 59
Milan 58
Redwood City 57
Kunming 47
Tianjin 44
Boardman 43
Princeton 42
University Park 42
Los Angeles 41
Rome 41
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
Lancaster 24
Fremont 23
Detroit 21
Simi Valley 19
Nuremberg 18
Shanghai 18
Falls Church 17
Frankfurt am Main 17
Leawood 16
Abidjan 15
Jinan 15
London 14
Ottawa 11
Philadelphia 11
Pune 11
Santa Clara 11
Augusta 10
Düsseldorf 10
São Paulo 10
Indiana 9
Vienna 9
North Bergen 8
Washington 8
Auburn Hills 7
Dong Ket 7
Florence 7
Ningbo 7
Phoenix 7
Toronto 7
Bologna 6
Brno 6
Changchun 6
Lanzhou 6
Prineville 6
San Jose 6
Altamura 5
Barcelona 5
Belize City 5
Boydton 5
Edinburgh 5
Forest City 5
Kish 5
Monmouth Junction 5
Mumbai 5
Paris 5
Rio de Janeiro 5
San Francisco 5
Totale 7.111
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Nome #
Molecular, clinical, and muscle studies in myotonic dystrophy type 1 (DM1) associated with novel variant CCG expansions 368
Chromosome 9p deletion syndrome and sex reversal: novel findings and redefinition of the critically deleted regions 353
Transcriptional reactivation of the FMR1 Gene. A possible approach to the treatment of the fragile X syndrome 322
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 302
CGG Repeat-Induced FMR1 Silencing Depends on the Expansion Size in Human iPSCs and Neurons Carrying Unmethylated Full Mutations 284
Mild beckwith-wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p. 217
Replication of association of CHRNA4 rare variants with sporadic amyotrophic lateral sclerosis: The Italian multicentre study 166
A double-blind, parallel, multicenter comparison of L-acetylcarnitine with placebo on the attention deficit hyperactivity disorder in fragile X syndrome boys 149
Chromosome 9p deletion syndrome and sex reversal: novel findings and redefinition of the critically deleted regions. 143
Salbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: relevance for clinical trial design. 135
A unique case of reversion to normal size of a maternal premutation FMR1 allele in a normal boy 133
Hypo-phosphorylation of salivary peptidome a clue to the molecular pathogenesis of autism spectrum disorders 133
SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR. 126
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. 124
Genome-wide methylation analysis demonstrates that 5-aza-2-deoxycytidine treatment does not cause random DNA demethylation in fragile X syndrome cells 123
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype 115
DNA Methylation in the Diagnosis of Monogenic Diseases. 115
Treatment with Valproic acid ameiorates ADHD symptoms in Fragile X syndrome boys. 114
A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus 112
A case of 45, X male: genetic evaluation and hormonal and metabolic follow-up in adult age. 112
Modest reactivation of the mutatnt FMR1 gene by valproic acid is accompanied by histone modifications but not DNA demethylation. 112
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 112
Mesenchymal stromal cells multipotency and plasticity: induction toward the hepatic lineage. 112
Biomarkers in rare disorders: the experience with spinal muscular atrophy 111
A premature infant with Costello syndrome due to a rare G13C HRAS mutation 111
Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16 110
L-acetylcarnitine treatment on fragile X patients hyperactive behaviour 109
Constitutional trisomy 8 and myelodysplasia: report of a case and review of the literature 108
Salbutamol increases serviva motor neuron (SMN) patients: relevance for clinical trial design 107
The ring 14 syndrome 107
Cardio-Facio-cutaneous syndrome: phenotypic variability and differential diagnosis in 3 cases with de novo BRAF mutations 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 105
Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis. 105
Prevalence of spinocellulart ataxia type 2 mutation among ittalian Parkinsonian patients 104
Assisted reproductive technology and congenital overgrowth:some speculations on a case of Pallister-Killian syndrome 104
The Simpson-Golabi-Behmel syndrome: a clinical case and a detective story 104
Erratum to: Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects. 103
Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes 102
Deletions in the SMN gene in infantile and adult spinal muscular atrophy patients from the same family 100
Defining the role of the CGGBP1 protein in FMR1 gene expression 100
Simpson–Golabi–Behmel syndrome in a female: A case report and an unsolved issue 100
Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy. 99
Familial microsatellite-stable non-polyposis colorectal cancer: incidence and characteristics in a clinic-based population 98
A history of mental retardation 96
Classification of familial amyotrophic lateral sclerosis by family history: effects on frequency of genes mutation 95
Long time no see: the type and contre-type concept 94
Salbutamol increases SMN mRNA and protein levels in spinal muscular atrophy cells 93
-Electroclinical patterns and evolution of epilepsy in the 4p- syndrome 93
On the nosology and pathogenesis of Wolf-Hirschhorn sindrome: genotype-phenotype correlation analysis of 80 patients and literature review. 91
Costello syndrome: further clinical delineation, natural history, genetic definition, and nosology 91
Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome 90
Diversity parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome 90
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. 89
Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome 88
A split hand-split foot (SHFM3) gene is located at 10q24-->25 87
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype 87
TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype 87
Unexpected finding of paternal premutation of the fragile X FMR1 gene in a female fetus of a premutation carrier mother 86
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 86
A case of 45,X male: genetic reevaluation and hormonal and metabolic follow-up in adult age 86
Involvement of MBD4 inactivation in mismatch repair-deficient tumorigenesis. 86
No Correlation between X Chromosome Inactivation Pattern and Autistic Spectrum Disorders in an Italian Cohort of Patients 85
A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome 85
Erratum to: Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects. 85
Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes 83
Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome 82
The FRAXopathies: Definition, overview, and update 80
Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): report of a new case 80
New XLMR syndrome with characteristic face, hypogenitalism, congenital hypotonia and pachygyria 80
Quantitative analysis of DNA demethylation and transcriptional reactivation of the FMR1gene in fragile X cells treated with 5-aza-deoxycitidine 79
A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus. 79
Defective oxytocin function: a clue to understanding the cause of autism 78
A premature infant with Costello syndrome due to a rare G13C HRAS mutation. 78
Reversion to Normal of FMR1 Expanded Alleles: A Rare Event in Two Independent Fragile X Syndrome Families 77
ATP1A3 mutant patient with alternating hemiplegia of childhood and brain spectroscopic abnormalities. 76
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. 75
The mGluR5 antagonist AFQ056 does not affect methylation and transcription of the mutant FMR1 gene in vitro. 74
Sex reversal from functional disomy of Xp: prenatal and post-mortem findings. 73
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 73
Morphology and immunophenotyping of a monolateral ovotestis in a 46,XderY/45,X mosaic individual with ambiguous genitalia 72
A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome 72
Three unrelated patients with congenital anterior pituitary aplasia and a characteristic physical and neuropsychological phenotype: a new syndrome? 72
High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpoints. 71
SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations. 70
Pervasive developmental disorder and epilepsy due to maternally derived duplication of 15q11-q13 69
Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I 69
SMN protein analysis in fibroblast, amniocyte and CVS cultures from spinal muscular atrophy patients and its relevance for diagnosis 69
Fragile X syndrome: causes, diagnosis, mechanisms, and theraupetics. 68
Recognizable facial features in patients with alternating hemiplegia of childhood. 68
Distal phalangeal creases: More evidence of this feature in disorders of the Ras signaling pathway. 67
Elements of morphology: standard terminology for the head and face 67
Further evidence that the rs1858830 C variant in the promoter region of the MET gene is associated with autistic disorder 67
Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome. 67
The terminal 760 kb region on 4p16 is unlikely to be the critical interval for growth delay in Wolf-Hirschhorn syndrome. 66
Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumour. 66
Linguistic and psychomotor development in children with chromosome 14 deletions. 66
Germinal mosaicism for a deletion of the FMR1 gene leading to fragile X syndrome 66
Co-occurrence of fragile x syndrome with a second genetic condition: Three independent cases of double diagnosis 66
Oral-facial-digital syndromes:review and diagnostic guidelines 65
Epigenetic analysis reveals a euchromatic configuration in the FMR1 unmethylated full mutations. 65
Totale 10.540
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Categoria #
all - tutte 53.725
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 53.725
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020449 0 0 0 0 0 0 0 0 0 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
2023/20241.220 47 381 61 93 49 152 88 29 17 44 99 160
2024/20251.419 69 78 182 84 169 69 42 143 438 145 0 0
Totale 12.610