IRIS PubliCatt

Neri, Giovanni
 Distribuzione geografica
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Continente #
EU - Europa 4.996
NA - Nord America 4.992
AS - Asia 1.645
AF - Africa 22
OC - Oceania 9
SA - Sud America 8
Continente sconosciuto - Info sul continente non disponibili 3
Totale 11.675
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Nazione #
US - Stati Uniti d'America 4.966
DE - Germania 1.408
SE - Svezia 956
CN - Cina 880
PL - Polonia 681
UA - Ucraina 672
SG - Singapore 362
IT - Italia 339
IE - Irlanda 259
FR - Francia 162
ID - Indonesia 152
FI - Finlandia 151
RU - Federazione Russa 123
GB - Regno Unito 122
IN - India 82
TR - Turchia 80
BE - Belgio 35
NL - Olanda 33
HK - Hong Kong 26
JP - Giappone 20
CA - Canada 17
CI - Costa d'Avorio 15
IR - Iran 12
ES - Italia 11
AU - Australia 8
VN - Vietnam 8
AT - Austria 7
CZ - Repubblica Ceca 7
CH - Svizzera 6
BZ - Belize 5
CL - Cile 4
MX - Messico 4
KR - Corea 3
KZ - Kazakistan 3
MT - Malta 3
RO - Romania 3
AE - Emirati Arabi Uniti 2
BG - Bulgaria 2
BR - Brasile 2
EG - Egitto 2
EU - Europa 2
HU - Ungheria 2
KW - Kuwait 2
LT - Lituania 2
MD - Moldavia 2
NO - Norvegia 2
PH - Filippine 2
PK - Pakistan 2
PT - Portogallo 2
SA - Arabia Saudita 2
ZA - Sudafrica 2
A1 - Anonimo 1
BD - Bangladesh 1
BO - Bolivia 1
CM - Camerun 1
EE - Estonia 1
GR - Grecia 1
HR - Croazia 1
IL - Israele 1
LA - Repubblica Popolare Democratica del Laos 1
LK - Sri Lanka 1
LU - Lussemburgo 1
LV - Lettonia 1
MA - Marocco 1
MY - Malesia 1
NG - Nigeria 1
NZ - Nuova Zelanda 1
PE - Perù 1
SK - Slovacchia (Repubblica Slovacca) 1
TH - Thailandia 1
TW - Taiwan 1
Totale 11.675
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Città #
Chandler 880
Warsaw 647
Ashburn 457
Jacksonville 349
Singapore 279
San Mateo 260
Dublin 255
Nanjing 243
Woodbridge 227
Ann Arbor 215
Wilmington 206
Fairfield 162
Jakarta 150
Seattle 130
Houston 125
Nanchang 110
Boston 108
Lawrence 94
Moscow 86
New York 79
Dearborn 77
Izmir 75
Cattolica 72
Nürnberg 72
Beijing 65
Munich 64
Cambridge 59
Redwood City 57
Milan 56
Kunming 46
Tianjin 44
Boardman 43
Princeton 42
University Park 42
Zhengzhou 40
Hebei 38
Changsha 37
Marseille 37
Norwalk 34
Shenyang 34
Bremen 33
Hangzhou 33
Jiaxing 33
Mountain View 33
Brussels 32
Redmond 32
Los Angeles 31
Chicago 30
Rome 30
Kraków 28
Lancaster 24
Fremont 23
Helsinki 22
Hong Kong 22
Detroit 21
Guangzhou 20
Simi Valley 19
Falls Church 17
Leawood 16
Shanghai 16
Abidjan 15
Jinan 15
London 13
Philadelphia 11
Pune 11
Augusta 10
Indiana 9
Santa Clara 9
Ottawa 8
Washington 8
Auburn Hills 7
Dong Ket 7
Florence 7
Ningbo 7
Phoenix 7
Bologna 6
Brno 6
Changchun 6
Lanzhou 6
Prineville 6
San Jose 6
Altamura 5
Barcelona 5
Belize City 5
Edinburgh 5
Forest City 5
Kish 5
Monmouth Junction 5
Mumbai 5
Nuremberg 5
Springfield 5
Taizhou 5
Vienna 5
Yalta 5
Barrafranca 4
Boydton 4
Marion 4
Naaldwijk 4
Paris 4
Perth 4
Totale 6.880
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Nome #
Molecular, clinical, and muscle studies in myotonic dystrophy type 1 (DM1) associated with novel variant CCG expansions 363
Chromosome 9p deletion syndrome and sex reversal: novel findings and redefinition of the critically deleted regions 350
Transcriptional reactivation of the FMR1 Gene. A possible approach to the treatment of the fragile X syndrome 315
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 295
CGG Repeat-Induced FMR1 Silencing Depends on the Expansion Size in Human iPSCs and Neurons Carrying Unmethylated Full Mutations 276
Mild beckwith-wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p. 206
Replication of association of CHRNA4 rare variants with sporadic amyotrophic lateral sclerosis: The Italian multicentre study 165
Chromosome 9p deletion syndrome and sex reversal: novel findings and redefinition of the critically deleted regions. 138
A double-blind, parallel, multicenter comparison of L-acetylcarnitine with placebo on the attention deficit hyperactivity disorder in fragile X syndrome boys 137
Salbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: relevance for clinical trial design. 126
A unique case of reversion to normal size of a maternal premutation FMR1 allele in a normal boy 124
Hypo-phosphorylation of salivary peptidome a clue to the molecular pathogenesis of autism spectrum disorders 122
SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR. 120
Genome-wide methylation analysis demonstrates that 5-aza-2-deoxycytidine treatment does not cause random DNA demethylation in fragile X syndrome cells 115
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. 114
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype 111
A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus 110
Biomarkers in rare disorders: the experience with spinal muscular atrophy 107
Mesenchymal stromal cells multipotency and plasticity: induction toward the hepatic lineage. 107
Modest reactivation of the mutatnt FMR1 gene by valproic acid is accompanied by histone modifications but not DNA demethylation. 106
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 105
A premature infant with Costello syndrome due to a rare G13C HRAS mutation 103
DNA Methylation in the Diagnosis of Monogenic Diseases. 103
A case of 45, X male: genetic evaluation and hormonal and metabolic follow-up in adult age. 102
Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16 102
Salbutamol increases serviva motor neuron (SMN) patients: relevance for clinical trial design 102
Treatment with Valproic acid ameiorates ADHD symptoms in Fragile X syndrome boys. 101
Constitutional trisomy 8 and myelodysplasia: report of a case and review of the literature 101
The ring 14 syndrome 101
Insertion of 16 amino acids in the BAR domain of the oligophrenin 1 protein causes mental retardation and cerebellar hypoplasia in an Italian family 99
L-acetylcarnitine treatment on fragile X patients hyperactive behaviour 97
Prevalence of spinocellulart ataxia type 2 mutation among ittalian Parkinsonian patients 97
Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis. 96
The Simpson-Golabi-Behmel syndrome: a clinical case and a detective story 96
Cardio-Facio-cutaneous syndrome: phenotypic variability and differential diagnosis in 3 cases with de novo BRAF mutations 96
Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes 94
Defining the role of the CGGBP1 protein in FMR1 gene expression 94
Erratum to: Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects. 94
Classification of familial amyotrophic lateral sclerosis by family history: effects on frequency of genes mutation 93
Assisted reproductive technology and congenital overgrowth:some speculations on a case of Pallister-Killian syndrome 93
Simpson–Golabi–Behmel syndrome in a female: A case report and an unsolved issue 93
A history of mental retardation 92
Deletions in the SMN gene in infantile and adult spinal muscular atrophy patients from the same family 92
Familial microsatellite-stable non-polyposis colorectal cancer: incidence and characteristics in a clinic-based population 91
Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy. 91
Salbutamol increases SMN mRNA and protein levels in spinal muscular atrophy cells 86
Long time no see: the type and contre-type concept 85
Costello syndrome: further clinical delineation, natural history, genetic definition, and nosology 84
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 83
Involvement of MBD4 inactivation in mismatch repair-deficient tumorigenesis. 83
Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome 82
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype 82
Diversity parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome 82
-Electroclinical patterns and evolution of epilepsy in the 4p- syndrome 82
TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype 82
Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome 80
On the nosology and pathogenesis of Wolf-Hirschhorn sindrome: genotype-phenotype correlation analysis of 80 patients and literature review. 80
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. 80
Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes 80
Erratum to: Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects. 80
A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome 79
No Correlation between X Chromosome Inactivation Pattern and Autistic Spectrum Disorders in an Italian Cohort of Patients 78
Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome 78
A split hand-split foot (SHFM3) gene is located at 10q24-->25 76
Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): report of a new case 76
A case of 45,X male: genetic reevaluation and hormonal and metabolic follow-up in adult age 76
Reversion to Normal of FMR1 Expanded Alleles: A Rare Event in Two Independent Fragile X Syndrome Families 75
The FRAXopathies: Definition, overview, and update 74
A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus. 74
New XLMR syndrome with characteristic face, hypogenitalism, congenital hypotonia and pachygyria 73
Defective oxytocin function: a clue to understanding the cause of autism 72
Unexpected finding of paternal premutation of the fragile X FMR1 gene in a female fetus of a premutation carrier mother 72
Quantitative analysis of DNA demethylation and transcriptional reactivation of the FMR1gene in fragile X cells treated with 5-aza-deoxycitidine 72
Three unrelated patients with congenital anterior pituitary aplasia and a characteristic physical and neuropsychological phenotype: a new syndrome? 71
A premature infant with Costello syndrome due to a rare G13C HRAS mutation. 70
ATP1A3 mutant patient with alternating hemiplegia of childhood and brain spectroscopic abnormalities. 70
Morphology and immunophenotyping of a monolateral ovotestis in a 46,XderY/45,X mosaic individual with ambiguous genitalia 69
High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpoints. 68
SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations. 68
The mGluR5 antagonist AFQ056 does not affect methylation and transcription of the mutant FMR1 gene in vitro. 67
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. 67
A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome 66
Pervasive developmental disorder and epilepsy due to maternally derived duplication of 15q11-q13 65
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 65
Linguistic and psychomotor development in children with chromosome 14 deletions. 65
Sex reversal from functional disomy of Xp: prenatal and post-mortem findings. 64
Fragile X syndrome: causes, diagnosis, mechanisms, and theraupetics. 64
Germinal mosaicism for a deletion of the FMR1 gene leading to fragile X syndrome 64
Distal phalangeal creases: More evidence of this feature in disorders of the Ras signaling pathway. 63
The inv dup(15) syndrome: a clinically recognizable syndrome with altered behavior, mental retardation, and epilepsy 63
SMN protein analysis in fibroblast, amniocyte and CVS cultures from spinal muscular atrophy patients and its relevance for diagnosis 63
Epigenetic analysis reveals a euchromatic configuration in the FMR1 unmethylated full mutations. 62
Further evidence that the rs1858830 C variant in the promoter region of the MET gene is associated with autistic disorder 62
Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I 62
Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumour. 62
Recognizable facial features in patients with alternating hemiplegia of childhood. 62
Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome. 61
Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome. 61
A girl with a 14.7 Mb 3q26.32-q28 duplication: A new report of 3q duplication syndrome and a literature review 61
Oral-facial-digital syndromes:review and diagnostic guidelines 59
Totale 9.885
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Categoria #
all - tutte 46.932
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 46.932
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20201.033 0 0 0 0 101 165 174 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
2023/20241.220 47 381 61 93 49 152 88 29 17 44 99 160
2024/2025555 69 78 182 84 142 0 0 0 0 0 0 0
Totale 11.746