IRIS
CAPPUCCIO, GERARDA
 Distribuzione geografica
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Continente #
AS - Asia 2.613
EU - Europa 1.932
NA - Nord America 1.885
SA - Sud America 400
AF - Africa 80
OC - Oceania 8
Continente sconosciuto - Info sul continente non disponibili 4
Totale 6.922
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Nazione #
US - Stati Uniti d'America 1.808
SG - Singapore 1.440
RU - Federazione Russa 972
CN - Cina 504
IT - Italia 411
BR - Brasile 331
HK - Hong Kong 295
VN - Vietnam 165
DE - Germania 119
NL - Olanda 100
GB - Regno Unito 66
FI - Finlandia 59
IN - India 56
CA - Canada 42
KR - Corea 35
FR - Francia 34
IE - Irlanda 33
AR - Argentina 32
CI - Costa d'Avorio 25
MX - Messico 25
AT - Austria 23
ZA - Sudafrica 22
BD - Bangladesh 21
ES - Italia 19
JP - Giappone 19
SE - Svezia 17
UA - Ucraina 17
PL - Polonia 16
TR - Turchia 15
EC - Ecuador 9
IL - Israele 9
MA - Marocco 9
CH - Svizzera 8
CO - Colombia 8
IQ - Iraq 8
BE - Belgio 7
BG - Bulgaria 7
ID - Indonesia 6
VE - Venezuela 6
PK - Pakistan 5
UZ - Uzbekistan 5
AZ - Azerbaigian 4
LT - Lituania 4
NZ - Nuova Zelanda 4
PE - Perù 4
SA - Arabia Saudita 4
TN - Tunisia 4
AU - Australia 3
CR - Costa Rica 3
CZ - Repubblica Ceca 3
DZ - Algeria 3
EG - Egitto 3
ET - Etiopia 3
PS - Palestinian Territory 3
PT - Portogallo 3
RO - Romania 3
UY - Uruguay 3
AE - Emirati Arabi Uniti 2
AM - Armenia 2
AO - Angola 2
BO - Bolivia 2
BY - Bielorussia 2
CL - Cile 2
EU - Europa 2
IR - Iran 2
JO - Giordania 2
KZ - Kazakistan 2
NO - Norvegia 2
PY - Paraguay 2
RE - Reunion 2
RS - Serbia 2
SY - Repubblica araba siriana 2
XK - ???statistics.table.value.countryCode.XK??? 2
BH - Bahrain 1
BW - Botswana 1
BZ - Belize 1
DK - Danimarca 1
DO - Repubblica Dominicana 1
GN - Guinea 1
GP - Guadalupe 1
GR - Grecia 1
HN - Honduras 1
HR - Croazia 1
JM - Giamaica 1
KE - Kenya 1
LB - Libano 1
LC - Santa Lucia 1
LV - Lettonia 1
MD - Moldavia 1
MY - Malesia 1
NG - Nigeria 1
NP - Nepal 1
OM - Oman 1
PH - Filippine 1
SC - Seychelles 1
SO - Somalia 1
SR - Suriname 1
TH - Thailandia 1
TT - Trinidad e Tobago 1
TV - Tuvalu 1
Totale 6.921
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Città #
Singapore 615
Hong Kong 286
Moscow 254
Chandler 213
Ashburn 181
Hefei 172
Beijing 139
Santa Clara 121
Ho Chi Minh City 72
Amsterdam 69
Millbury 65
Naples 60
Los Angeles 49
Des Moines 47
Boston 46
Lawrence 46
Redondo Beach 41
Buffalo 37
Dallas 37
Hanoi 33
Nanjing 33
Napoli 31
Seoul 31
Munich 29
São Paulo 29
Houston 27
New York 25
Princeton 24
Turku 23
Wilmington 22
Ottawa 21
Seattle 21
Nuremberg 20
Rome 19
The Dalles 19
London 16
Chicago 15
Rio de Janeiro 15
Helsinki 14
Mexico City 14
Milan 13
Stockholm 13
Tokyo 13
Guangzhou 12
Brooklyn 11
Warsaw 11
Biên Hòa 10
Boardman 10
Falkenstein 10
Chennai 9
Johannesburg 9
Orem 9
Pune 9
Turin 9
Vienna 9
Haiphong 8
Kochi 8
Nanchang 8
Phoenix 8
Catania 7
Frankfurt am Main 7
Lecce 7
Montreal 7
New Delhi 7
Washington 7
Woodbridge 7
Ankara 6
Atlanta 6
Bari 6
Belo Horizonte 6
Bologna 6
Denver 6
Manchester 6
Poplar 6
Baghdad 5
Council Bluffs 5
Dublin 5
Falls Church 5
Guarulhos 5
Hebei 5
Porto Alegre 5
Ribeirão Preto 5
Sofia 5
Toronto 5
Zurich 5
Alcalá De Henares 4
Baku 4
Brasília 4
Budrio 4
Central 4
Da Nang 4
Dhaka 4
Fairfield 4
Lappeenranta 4
Lima 4
Manaus 4
Medellín 4
Mumbai 4
Osasco 4
Redwood City 4
Totale 3.432
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Nome #
ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature 210
Sindrome di Gorlin: possibilità di una diagnosi precoce in bambini con macrocrania ? 141
Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: Genotype-phenotype correlation and literature review. 129
A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability 119
A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome. 115
Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature review 113
The Treatment of Hypersalivation in Rett Syndrome with Botulinum Toxin: Efficacy and Clinical Implications 112
Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature 108
Clinical Description of a Patient Carrying the Smallest Reported Deletion Involving 10p14 Region 108
New insights in the interpretation of array-CGH: Autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants 107
Early onset Charcot-Marie-Tooth neuropathy type 2A and severe developmental delay: expanding the clinical phenotype of MFN2-related neuropathy 106
Cavitating and tigroid-like leukoencephalopathy in a case of NDUFA2-related disorder 106
Low-dose amitriptyline-induced acute dystonia in a patient with metachromatic leukodystrophy. 101
Variegated silencing throughepigenetic modifications of a large Xq region in a case of balanced X;2translocation with Incontinentia Pigmenti-like phenotype 99
Otorhinolaryngological management in the Mucopolysaccharidoses 97
Sensorineural Hearing Loss in a Patient Affected by Congenital Cytomegalovirus Infection: Is It Useful to Identify Comorbid Pathologies? 96
Approcci diagnostico-terapeutici al dolore cronico delle patologie neurodegenerative: l'esempio delle leucodistrofie. 95
Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22 95
TREATMENT OF HYPERSALIVATION IN RETT SYNDROME WITH BOTULINUM TOXIN: EFFICACY AND CLINICAL IMPLICATIONS 95
Pain and sleep disturbances in Rett syndrome and other neurodevelopmental disorders 94
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) 94
L-serine treatment in patients with GRIN-related encephalopathy: A phase 2A, non-randomized study 93
Pearls & Oy-sters: Familial epileptic encephalopathy due to methylenetetrahydrofolate reductase deficiency. 93
Variability in autism spectrum phenotypes linked to heterozygous missense familial ANK2 mutation 92
Two cases of 16q12.1q21 deletions and refinement of the critical region 92
Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome 91
Developmental delay, epilepsy and brain atrophy of different severity in two first cousins with methylenetetrahydrofolate reductase deficiency. 91
Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant 89
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 87
Identification of two novel splice-site mutations in CHD7 gene in two patients with classical and atypical CHARGE syndrome phenotype 84
Expanding the phenotype of DST-related disorder: A case report suggesting a genotype/phenotype correlation 83
Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet 82
Microdeletion of pseudogene chr14.232.a affects LRFN5 expression in cells of a patient with autism spectrum disorder 82
Varianti polimorfiche della regione 11q25:difficoltà di interpretazione dei risultati della array CGH. 81
Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene 81
Mild form of Zellweger Spectrum Disorders (ZSD) due to variants in PEX1: Detailed clinical investigation in a 9-years-old female 80
Expansion of the phenotype of lateral meningocele syndrome 80
Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability 80
Global metabolomic profiling unravels metabolite perturbations in Rett syndrome 78
Loeys-Dietz syndrome type 4, caused by chromothripsis, involving the TGFB2 gene. 76
Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females. 75
De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasia 74
VarGenius executes cohort-level DNA-seq variant calling and annotation and allows to manage the resulting data through a PostgreSQL database 74
Focal congenital lipoatrophy and vascular malformation: A mild form of inverse Klippel-Trenaunay syndrome? 72
Paralog Studies Augment Gene Discovery: DDX and DHX Genes 72
Giant breast tumors in a patient with Beckwith-Wiedemann syndrome. 70
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders 69
Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated with neurodevelopmental disorders 68
Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder 67
Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum 66
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders 66
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome 66
AP1S2-truncating variant in a patient with severe neurodevelopmental disorder and cerebral folate deficiency 64
The use of iPSC-derived neurons to study neurological disorders. Human models as new tools for drug development and precision medicine 63
Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type? 61
Long-term efficacy of T3 analogue Triac in children and adults with MCT8 deficiency: a real-life retrospective cohort study 60
Mild neurological phenotype in a family carrying a novel N-terminal null GRIN2A variant 60
POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum 58
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders 58
A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot 56
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease 55
Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease 55
De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome 53
Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects 52
An extremely severe phenotype attributed to WDR81 nonsense mutations 51
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia 51
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome 51
Clinical and functional consequences of C-terminal variants in MCT8: a case series 50
Epilepsy in KAT6A syndrome: Description of two individuals and revision of the literature 50
Antibody Deficiency in Patients with Biallelic KARS1 Mutations 49
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis 49
A pilot clinical trial with losartan in Myhre syndrome 49
Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype 48
An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs 48
Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4 47
Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine 46
Rubinstein-Taybi syndrome in diverse populations 45
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders 45
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism 45
Expanding the phenotype of HNRNPU-related neurodevelopmental disorder with emphasis on seizure phenotype and review of literature 45
Joint contractures is a recurrent clinical feature of individuals with neurodevelopmental disorder due to FOXP1 likely gene disruptive variants 44
Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A) 44
Mild clinical presentation of joubert syndrome in a male adult carrying biallelic mks1 truncating variants 43
Sphingolipid metabolism perturbations in rett syndrome 42
Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration 41
Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function 41
Severe presentation and complex brain malformations in an individual carrying a CCND2 variant 40
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study 40
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy 40
Postnatal microcephaly and retinal involvement expand the phenotype of RPL10-related disorder 40
RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum 39
FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability 39
Long-term follow-up of an individual with ITPR1-related disorder 38
Peculiar footprints in a child with agenesis of corpus callosum 38
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature 37
DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome 35
Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome 34
A systematic cross-sectional survey of multiple sulfatase deficiency 29
A clinical and genotype-phenotype analysis of MACF1 variants 25
Rare and de novo coding variants in chromodomain genes in Chiari I malformation 22
Totale 7.009
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Categoria #
all - tutte 25.101
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 25.101
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202160 0 0 0 0 0 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
2025/20262.756 562 406 496 476 736 80 0 0 0 0 0 0
Totale 7.050