IRIS UniCatt

Leoni, Chiara
 Distribuzione geografica
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Continente #
NA - Nord America 2.631
EU - Europa 2.541
AS - Asia 2.315
SA - Sud America 514
AF - Africa 79
OC - Oceania 6
Continente sconosciuto - Info sul continente non disponibili 3
Totale 8.089
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Nazione #
US - Stati Uniti d'America 2.515
SG - Singapore 1.159
DE - Germania 648
CN - Cina 564
IT - Italia 552
BR - Brasile 437
SE - Svezia 435
FR - Francia 160
IE - Irlanda 126
GB - Regno Unito 108
VN - Vietnam 108
FI - Finlandia 107
IN - India 92
ID - Indonesia 91
UA - Ucraina 85
RU - Federazione Russa 69
NL - Olanda 66
CA - Canada 64
HK - Hong Kong 60
PL - Polonia 39
MX - Messico 37
KR - Corea 36
TR - Turchia 32
AR - Argentina 31
ES - Italia 30
AT - Austria 29
BD - Bangladesh 28
ZA - Sudafrica 25
JP - Giappone 24
BE - Belgio 20
IQ - Iraq 18
MA - Marocco 15
SA - Arabia Saudita 14
CZ - Repubblica Ceca 13
LT - Lituania 13
CI - Costa d'Avorio 12
IR - Iran 12
IL - Israele 11
VE - Venezuela 11
CO - Colombia 9
EC - Ecuador 9
JO - Giordania 9
CH - Svizzera 8
GR - Grecia 8
UZ - Uzbekistan 8
PK - Pakistan 7
AE - Emirati Arabi Uniti 6
AU - Australia 6
BG - Bulgaria 6
EG - Egitto 6
KE - Kenya 6
CL - Cile 5
PE - Perù 5
TH - Thailandia 5
MY - Malesia 4
RO - Romania 4
DZ - Algeria 3
JM - Giamaica 3
KG - Kirghizistan 3
NO - Norvegia 3
NP - Nepal 3
PS - Palestinian Territory 3
SN - Senegal 3
TW - Taiwan 3
UY - Uruguay 3
AL - Albania 2
AZ - Azerbaigian 2
BH - Bahrain 2
BO - Bolivia 2
CR - Costa Rica 2
CY - Cipro 2
EU - Europa 2
GE - Georgia 2
HN - Honduras 2
HR - Croazia 2
HU - Ungheria 2
KZ - Kazakistan 2
MU - Mauritius 2
NI - Nicaragua 2
PA - Panama 2
PH - Filippine 2
PY - Paraguay 2
TT - Trinidad e Tobago 2
A2 - ???statistics.table.value.countryCode.A2??? 1
BW - Botswana 1
BY - Bielorussia 1
CG - Congo 1
EE - Estonia 1
ET - Etiopia 1
GA - Gabon 1
GT - Guatemala 1
IM - Isola di Man 1
LY - Libia 1
MN - Mongolia 1
PT - Portogallo 1
QA - Qatar 1
RS - Serbia 1
SK - Slovacchia (Repubblica Slovacca) 1
SV - El Salvador 1
TM - Turkmenistan 1
Totale 8.087
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Città #
Singapore 540
Chandler 413
Ashburn 322
Rome 158
Beijing 143
New York 125
Dublin 118
Los Angeles 102
Hefei 96
Jakarta 80
Milan 68
Munich 67
San Mateo 67
Dallas 60
Frankfurt am Main 58
Hong Kong 57
Jacksonville 54
The Dalles 51
Boston 50
Helsinki 50
Ho Chi Minh City 47
São Paulo 46
Marseille 40
Nanjing 39
Princeton 38
Moscow 36
Boardman 33
Seoul 33
Houston 31
Nuremberg 31
Kent 30
Nürnberg 30
Wilmington 29
Bremen 27
Dearborn 27
Buffalo 24
Woodbridge 24
Chicago 23
Montreal 23
Tokyo 23
Denver 22
Hanoi 22
Brooklyn 21
Düsseldorf 21
Redwood City 21
Seattle 21
Brussels 20
Ann Arbor 19
Santa Clara 18
Turku 18
Pune 17
Warsaw 17
Atlanta 16
Hyderabad 16
Nanchang 16
Johannesburg 15
London 15
Toronto 15
Vienna 15
Wroclaw 15
Mexico City 14
Orem 14
Rio de Janeiro 14
Abidjan 12
Fairfield 12
Lappeenranta 12
Poplar 12
Redmond 12
Espoo 11
Izmir 11
Lauterbourg 11
Lawrence 11
Phoenix 11
Stockholm 11
Amsterdam 10
Busto Arsizio 10
Shanghai 10
Amman 9
Bexley 9
Brno 9
Charlotte 9
Naples 9
Norwalk 9
Cattolica 8
Council Bluffs 8
Dhaka 8
Kish 8
Modena 8
Roubaix 8
Athens 7
Belo Horizonte 7
Brasília 7
Hebei 7
Kunming 7
Leawood 7
Manchester 7
Mumbai 7
Paris 7
Porto Alegre 7
Portsmouth 7
Totale 4.050
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Nome #
Validation and cross-cultural adaptation of the Italian version of the Pediatric Eating Assessment Tool (I-PEDI-EAT-10) in genetic syndromes 296
Enhanced human brain associative plasticity in Costello syndrome 216
Increased sleep spindle activity in patients with Costello syndrome (HRAS gene mutation) 175
Upper airway surgery of obstructive sleep apnea in pycnodysostosis: case report and literature review 159
Increased sleep spindle activity in patients with Costello syndrome (HRAS gene mutation) 156
Pycnodysostosis with extreme sleep apnea: a possible alternative to tracheotomy 152
Decreased bone mineral density in Costello syndrome 151
Long Term Memory Profile of Disorders Associated with Dysregulation of the RAS-MAPK Signaling Cascade. 137
Intestinal Permeability in Children with Functional Gastrointestinal Disorders: The Effects of Diet 135
Characterization of bone homeostasis in individuals affected by cardio-facio-cutaneous syndrome 134
Epilepsy and BRAF mutations: Phenotypes, natural history and genotype-phenotype correlations 133
Body mass index in type 2 spinal muscular atrophy: a longitudinal study 131
What to expect of feeding abilities and nutritional aspects in achondroplasia patients: a narrative review 127
HYPOVENTILATION IN REM SLEEP IN A CASE OF 17p11.2 DELETION (SMITH-MAGENIS SYNDROME) 125
Metabolic profiling of Costello syndrome: insights from a single-center cohort 123
INCREASED LEVELS OF GLIAL CELL-DERIVED NEUROTROPHIC FACTOR IN CSF OF INFANTS WITH SMA 122
Dystonia in Costello syndrome 122
A multi-step approach to overcome challenges in the management of head and neck lymphatic malformations, and response to treatment 117
Enlarged spinal nerve roots in RASopathies: report of two cases 116
Genotype-cardiac phenotype correlations in a large single-center cohort of patients affected by Rasopathies: clinical implications and literature review 112
Embryopathy Following Maternal Biliopancreatic Diversion: Is Bariatric Surgery Really Safe? 109
Can the CHOP-INTEND be used as An Outcome Measure in the First Months of Age? Implications for Clinical Trials and Real World Data 106
Melanocytic nevi in RASopathies: insights on dermatological diagnostic handles 105
Drooling outcome measures in paediatric disability: a systematic review 103
Bone tissue homeostasis and risk of fractures in Costello syndrome: a four-year follow-up study 102
From feeding challenges to oral-motor dyspraxia: a comprehensive description of 10 new cases with CTNNB1 syndrome. 100
Musculo‑skeletal phenotype of Costello syndrome and cardio‑facio‑cutaneous syndrome: insights on the functional assessment status. 100
Efficacy and safety of growth hormone therapy in children with Noonan syndrome 99
Wolf-Hirschhorn syndrome with improvement of renal function 99
Body mass index in type 2 spinal muscular atrophy: a longitudinal study 99
Respiratory and gastrointestinal dysfunctions associated with auriculo-condylar syndrome and a homozygous PLCB4 loss-of-function mutation 98
How pain affect real life of children and adults with achondroplasia: a systematic review 97
Visual function and ophthalmological findings in CHARGE syndrome: Revision of literature, definition of a new clinical spectrum and genotype phenotype correlation 96
The impact of blenderized tube feeding on gastrointestinal symptoms, a scoping review 96
Cross‐cultural adaptation and validation of the Italian version of the Montreal Children's Hospital Feeding Scale in a special healthcare needs population 94
Ligamentous laxity in children with achondroplasia: prevalence, joint involvement, and implications for early intervention strategies 94
Pain in individuals with RASopathies: Prevalence and clinical characterization in a sample of 80 affected patients 94
Prevalence of bladder cancer in Costello syndrome: New insights to drive clinical decision-making 94
Management of nutritional and gastrointestinal issues in RASopathies: a narrative review 93
Broadening the phenotypic spectrum of Beta3GalT6-associated phenotype 91
Smith–Magenis syndrome: Report of morphological and new functional cardiac findings with review of the literature 90
Congenital immunodeficiency in an individual with Wiedemann–Steiner syndrome due to a novel missense mutation in KMT2A 89
The "FEEDS (FEeding Eating Deglutition Skills)" over Time Study in Cardiofaciocutaneous Syndrome 89
Cross-cultural adaptation and validation of the Italian version of the Montreal Children's Hospital Feeding Scale in a special healthcare needs population 86
Basedow-Graves’ disease in a pediatric patient with Sticlker syndrome, a new endocrine finding to improve personalized treatment 86
Differential Effects of HRAS Mutation on LTP-Like Activity Induced by Different Protocols of Repetitive Transcranial Magnetic Stimulation 85
Biallelic TRNT1 variants in a child with B cell immunodeficiency, periodic fever and developmental delay without sideroblastic anemia (SIFD variant) 85
Clarifying main nutritional aspects and resting energy expenditure in children with Smith-Magenis syndrome 84
Validation and cross-cultural adaptation of the Italian version of the Pediatric Eating Assessment Tool (I-PEDI-EAT-10) in genetic syndromes 84
Pulmonary artery sling in a 22-month-old boy with 18q deletion syndrome: A rare but possible association 84
Predicting the clinical trajectory of feeding and swallowing abilities in CHARGE syndrome 83
Oligonephronia and Wolf-Hirschhorn syndrome: A further observation 82
Personalized treatment in a boy with NF1 and inoperable plexiform orbital neurofibroma 81
CRANIOSYNOSTOSIS IN PATIENTS WITH NOONAN SYNDROME CAUSED BY GERMLINE KRAS MUTATIONS 81
Dermatoscopic and confocal microscopy features of widespread inflammatory linear verrucous epidermal nevus 80
Trisomy 22 mosaicism from prenatal to postnatal findings: a case series and systematic review of the literature 79
Understanding Growth Failure in Costello Syndrome: Increased Resting Energy Expenditure 79
One case of anetoderma post-vitamin K1 injection in a newborn 79
Phosphatase and tensin homolog (PTEN) variants and epilepsy: A multicenter case series 78
Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay 77
Treatment of dystonia using trihexyphenidyl in costello syndrome 77
Metabolic profile of patients with Smith-Magenis syndrome: an observational study with literature review 76
Old treatments for new genetic conditions: Sirolimus therapy in a child affected by mosaic overgrowth with fibroadipose hyperplasia. 73
Skeletal abnormalities are common features in Aymé-Gripp syndrome 72
Aberrant N-myristoylation as a prelude to autoimmune manifestations in patients with SHOC2 mutations 71
How pain affect real life of children and adults with achondroplasia: A systematic review 70
Do rare genetic conditions exhibit a specific phonotype? A comprehensive description of the vocal traits associated with Crisponi/Cold-Induced Sweating Syndrome type 1. 69
Mutations impairing GSK3-mediated MAF phosphorylation cause cataract, deafness, intellectual disability, seizures, and a down syndrome-like facies 68
Cantú syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants 66
Predicting the clinical trajectory of feeding and swallowing abilities in CHARGE syndrome 65
Feeding and nutritional key features of Crisponi/cold-induced sweating syndrome 64
P.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas 64
Psychopathological features in Noonan syndrome 63
RASopathies and sigmoid-shaped ventricular septum morphology: evidence of a previously unappreciated cardiac phenotype 62
Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype 61
Cardiofaciocutaneous syndrome and immunodeficiency: data from an international multicenter cohort 60
Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome 60
Rare and de novo coding variants in chromodomain genes in Chiari I malformation 60
Impact of Costello syndrome on growth patterns 57
Nasal polyposis in pediatric patients with Cornelia de Lange syndrome: endoscopic diagnosis, treatment and follow up in two case reports 54
First evidence of a therapeutic effect of miransertib in a teenager with Proteus syndrome and ovarian carcinoma 54
The dark side of COVID-19: The need of integrated medicine for children with special care needs 48
Smith Magenis syndrome: First case of congenital heart defect in a patient with Rai1 mutation 45
Bladder and bowel dysfunction in Down syndrome with neural tube defect: case report and review of the literature 44
Giant subcortical heterotopia involving the temporo-parieto-occipital region: a challenging cause of drug-resistant epilepsy 39
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy 37
Prevalence of gastrointestinal disorders in individuals with RASopathies: May RAS/MAP/ERK pathway dysfunctions be a model of neuropathic pain and visceral hypersensitivity? 28
Clinical-Genetic Approach to Conditions with Macrocephaly and ASD/Behaviour Abnormalities: Variants in PTEN and PPP2R5D Are the Most Recurrent Gene Mutations in a Patient-Oriented Diagnostic Strategy 15
Totale 8.191
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Categoria #
all - tutte 38.916
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 38.916
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021133 0 0 0 0 0 7 43 12 30 6 33 2
2021/2022485 23 21 10 53 15 9 17 79 19 28 110 101
2022/20231.263 164 159 76 175 67 143 84 116 133 41 67 38
2023/2024836 25 164 25 77 46 139 58 31 26 41 83 121
2024/20252.004 44 43 169 114 161 94 107 89 246 224 378 335
2025/20262.615 627 167 376 589 720 136 0 0 0 0 0 0
Totale 8.191