IRIS
CAPPUCCIO, GERARDA
 Distribuzione geografica
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Continente #
AS - Asia 2.311
EU - Europa 1.891
NA - Nord America 1.775
SA - Sud America 364
AF - Africa 65
OC - Oceania 6
Continente sconosciuto - Info sul continente non disponibili 3
Totale 6.415
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Nazione #
US - Stati Uniti d'America 1.706
SG - Singapore 1.236
RU - Federazione Russa 969
CN - Cina 487
IT - Italia 406
BR - Brasile 317
HK - Hong Kong 292
DE - Germania 116
VN - Vietnam 115
NL - Olanda 100
FI - Finlandia 59
GB - Regno Unito 58
IN - India 53
CA - Canada 41
KR - Corea 33
FR - Francia 32
IE - Irlanda 32
AR - Argentina 24
CI - Costa d'Avorio 24
MX - Messico 24
AT - Austria 21
ES - Italia 19
JP - Giappone 19
ZA - Sudafrica 19
BD - Bangladesh 17
UA - Ucraina 17
SE - Svezia 15
PL - Polonia 13
TR - Turchia 13
IL - Israele 9
MA - Marocco 8
CH - Svizzera 7
EC - Ecuador 7
BE - Belgio 6
BG - Bulgaria 6
CO - Colombia 6
ID - Indonesia 6
UZ - Uzbekistan 5
IQ - Iraq 4
PK - Pakistan 4
SA - Arabia Saudita 4
VE - Venezuela 4
DZ - Algeria 3
EG - Egitto 3
NZ - Nuova Zelanda 3
PT - Portogallo 3
RO - Romania 3
TN - Tunisia 3
AE - Emirati Arabi Uniti 2
AU - Australia 2
AZ - Azerbaigian 2
EU - Europa 2
IR - Iran 2
LT - Lituania 2
NO - Norvegia 2
PE - Perù 2
RS - Serbia 2
AM - Armenia 1
AO - Angola 1
BH - Bahrain 1
BO - Bolivia 1
BW - Botswana 1
BY - Bielorussia 1
CR - Costa Rica 1
DO - Repubblica Dominicana 1
ET - Etiopia 1
GR - Grecia 1
JM - Giamaica 1
JO - Giordania 1
KE - Kenya 1
LB - Libano 1
MD - Moldavia 1
OM - Oman 1
PH - Filippine 1
PS - Palestinian Territory 1
PY - Paraguay 1
SC - Seychelles 1
SR - Suriname 1
SY - Repubblica araba siriana 1
TT - Trinidad e Tobago 1
TV - Tuvalu 1
UY - Uruguay 1
XK - ???statistics.table.value.countryCode.XK??? 1
Totale 6.415
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Città #
Singapore 546
Hong Kong 283
Moscow 252
Chandler 213
Hefei 172
Ashburn 152
Beijing 129
Santa Clara 118
Amsterdam 69
Millbury 65
Naples 59
Ho Chi Minh City 53
Des Moines 47
Boston 46
Lawrence 46
Los Angeles 45
Redondo Beach 41
Buffalo 37
Dallas 36
Nanjing 33
Napoli 31
Seoul 31
São Paulo 29
Munich 28
Houston 25
Princeton 24
Turku 23
Hanoi 22
Wilmington 22
New York 21
Ottawa 21
Seattle 20
Nuremberg 19
Rome 19
Rio de Janeiro 15
Helsinki 14
Mexico City 14
Milan 13
Tokyo 13
Guangzhou 12
Chicago 11
London 11
Stockholm 11
Boardman 10
Falkenstein 10
Brooklyn 9
Pune 9
Vienna 9
Biên Hòa 8
Kochi 8
Nanchang 8
Warsaw 8
Catania 7
Chennai 7
Johannesburg 7
Lecce 7
Montreal 7
New Delhi 7
Phoenix 7
Turin 7
Washington 7
Woodbridge 7
Bari 6
Belo Horizonte 6
Bologna 6
Frankfurt am Main 6
The Dalles 6
Ankara 5
Council Bluffs 5
Dublin 5
Falls Church 5
Guarulhos 5
Hebei 5
Orem 5
Poplar 5
Ribeirão Preto 5
Alcalá De Henares 4
Atlanta 4
Brasília 4
Budrio 4
Central 4
Fairfield 4
Lappeenranta 4
Manchester 4
Mumbai 4
Osasco 4
Porto Alegre 4
Redwood City 4
Secaucus 4
Sofia 4
St Louis 4
Tashkent 4
Toronto 4
Waanrode 4
Zurich 4
Adana 3
Baghdad 3
Barcelona 3
Bnei Brak 3
Botucatu 3
Totale 3.206
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Nome #
ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature 209
Sindrome di Gorlin: possibilità di una diagnosi precoce in bambini con macrocrania ? 133
Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: Genotype-phenotype correlation and literature review. 120
A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability 112
A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome. 109
Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature review 103
Clinical Description of a Patient Carrying the Smallest Reported Deletion Involving 10p14 Region 101
Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature 100
New insights in the interpretation of array-CGH: Autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants 100
The Treatment of Hypersalivation in Rett Syndrome with Botulinum Toxin: Efficacy and Clinical Implications 100
Cavitating and tigroid-like leukoencephalopathy in a case of NDUFA2-related disorder 99
Early onset Charcot-Marie-Tooth neuropathy type 2A and severe developmental delay: expanding the clinical phenotype of MFN2-related neuropathy 97
Variegated silencing throughepigenetic modifications of a large Xq region in a case of balanced X;2translocation with Incontinentia Pigmenti-like phenotype 91
Low-dose amitriptyline-induced acute dystonia in a patient with metachromatic leukodystrophy. 91
L-serine treatment in patients with GRIN-related encephalopathy: A phase 2A, non-randomized study 88
Sensorineural Hearing Loss in a Patient Affected by Congenital Cytomegalovirus Infection: Is It Useful to Identify Comorbid Pathologies? 88
Two cases of 16q12.1q21 deletions and refinement of the critical region 87
Approcci diagnostico-terapeutici al dolore cronico delle patologie neurodegenerative: l'esempio delle leucodistrofie. 86
Otorhinolaryngological management in the Mucopolysaccharidoses 86
Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22 86
Corrigendum to: Expanding the phenotype of DST -related disorder: A case report suggesting a genotype/phenotype correlation (American Journal of Medical Genetics Part A, (2017), 173, 10, (2743-2746), 10.1002/ajmg.a.38367) 86
TREATMENT OF HYPERSALIVATION IN RETT SYNDROME WITH BOTULINUM TOXIN: EFFICACY AND CLINICAL IMPLICATIONS 86
Variability in autism spectrum phenotypes linked to heterozygous missense familial ANK2 mutation 85
Pearls & Oy-sters: Familial epileptic encephalopathy due to methylenetetrahydrofolate reductase deficiency. 85
Pain and sleep disturbances in Rett syndrome and other neurodevelopmental disorders 85
Developmental delay, epilepsy and brain atrophy of different severity in two first cousins with methylenetetrahydrofolate reductase deficiency. 84
Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome 83
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants 82
Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant 81
Expanding the phenotype of DST-related disorder: A case report suggesting a genotype/phenotype correlation 76
Identification of two novel splice-site mutations in CHD7 gene in two patients with classical and atypical CHARGE syndrome phenotype 75
Expansion of the phenotype of lateral meningocele syndrome 73
Mild form of Zellweger Spectrum Disorders (ZSD) due to variants in PEX1: Detailed clinical investigation in a 9-years-old female 72
Varianti polimorfiche della regione 11q25:difficoltà di interpretazione dei risultati della array CGH. 72
Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability 72
De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasia 71
Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet 71
Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene 71
VarGenius executes cohort-level DNA-seq variant calling and annotation and allows to manage the resulting data through a PostgreSQL database 70
Microdeletion of pseudogene chr14.232.a affects LRFN5 expression in cells of a patient with autism spectrum disorder 70
Loeys-Dietz syndrome type 4, caused by chromothripsis, involving the TGFB2 gene. 69
Global metabolomic profiling unravels metabolite perturbations in Rett syndrome 69
Paralog Studies Augment Gene Discovery: DDX and DHX Genes 68
Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females. 66
Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated with neurodevelopmental disorders 64
Giant breast tumors in a patient with Beckwith-Wiedemann syndrome. 64
Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum 63
AP1S2-truncating variant in a patient with severe neurodevelopmental disorder and cerebral folate deficiency 63
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders 62
The use of iPSC-derived neurons to study neurological disorders. Human models as new tools for drug development and precision medicine 62
Focal congenital lipoatrophy and vascular malformation: A mild form of inverse Klippel-Trenaunay syndrome? 60
Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder 60
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome 60
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders 59
Mild neurological phenotype in a family carrying a novel N-terminal null GRIN2A variant 59
Long-term efficacy of T3 analogue Triac in children and adults with MCT8 deficiency: a real-life retrospective cohort study 58
Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type? 57
POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum 56
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders 56
A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot 55
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease 54
Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease 53
De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome 52
An extremely severe phenotype attributed to WDR81 nonsense mutations 50
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome 50
Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects 50
A pilot clinical trial with losartan in Myhre syndrome 48
Epilepsy in KAT6A syndrome: Description of two individuals and revision of the literature 48
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia 47
Clinical and functional consequences of C-terminal variants in MCT8: a case series 47
Antibody Deficiency in Patients with Biallelic KARS1 Mutations 46
An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs 46
Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype 45
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis 45
Joint contractures is a recurrent clinical feature of individuals with neurodevelopmental disorder due to FOXP1 likely gene disruptive variants 43
Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4 43
Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A) 43
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders 43
Expanding the phenotype of HNRNPU-related neurodevelopmental disorder with emphasis on seizure phenotype and review of literature 43
Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine 42
Rubinstein-Taybi syndrome in diverse populations 42
Mild clinical presentation of joubert syndrome in a male adult carrying biallelic mks1 truncating variants 40
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism 40
Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration 39
Sphingolipid metabolism perturbations in rett syndrome 39
Postnatal microcephaly and retinal involvement expand the phenotype of RPL10-related disorder 39
Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function 38
RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum 38
Severe presentation and complex brain malformations in an individual carrying a CCND2 variant 37
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study 37
FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability 37
Peculiar footprints in a child with agenesis of corpus callosum 37
Long-term follow-up of an individual with ITPR1-related disorder 36
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature 36
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy 36
Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome 33
DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome 33
A systematic cross-sectional survey of multiple sulfatase deficiency 27
Rare and de novo coding variants in chromodomain genes in Chiari I malformation 21
A clinical and genotype-phenotype analysis of MACF1 variants 20
Totale 6.509
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Categoria #
all - tutte 24.265
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 24.265
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202166 0 0 0 0 6 17 18 7 6 1 11 0
2021/2022362 6 2 6 5 17 10 6 14 28 28 76 164
2022/2023610 79 30 19 49 76 69 25 52 87 69 41 14
2023/2024548 41 86 48 45 22 64 23 53 11 22 77 56
2024/20252.370 137 145 13 26 79 109 284 133 186 307 754 197
2025/20262.248 562 406 496 476 308 0 0 0 0 0 0 0
Totale 6.542