IRIS UniCatt

Leoni, Chiara
 Distribuzione geografica
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Continente #
NA - Nord America 3.306
EU - Europa 3.150
AS - Asia 2.968
SA - Sud America 566
AF - Africa 101
OC - Oceania 9
Continente sconosciuto - Info sul continente non disponibili 3
Totale 10.103
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Nazione #
US - Stati Uniti d'America 3.172
SG - Singapore 1.392
DE - Germania 667
IT - Italia 648
CN - Cina 631
BR - Brasile 467
SE - Svezia 436
NL - Olanda 423
VN - Vietnam 278
FR - Francia 254
IE - Irlanda 127
FI - Finlandia 125
IN - India 117
GB - Regno Unito 116
ID - Indonesia 98
HK - Hong Kong 97
UA - Ucraina 88
JP - Giappone 84
CA - Canada 72
RU - Federazione Russa 69
PL - Polonia 42
MX - Messico 39
AR - Argentina 38
KR - Corea 37
TR - Turchia 36
ES - Italia 33
BD - Bangladesh 31
ZA - Sudafrica 30
AT - Austria 29
IQ - Iraq 29
SA - Arabia Saudita 23
BE - Belgio 20
MA - Marocco 18
VE - Venezuela 14
CZ - Repubblica Ceca 13
IR - Iran 13
LT - Lituania 13
PK - Pakistan 13
CI - Costa d'Avorio 12
CL - Cile 11
IL - Israele 11
JO - Giordania 11
UZ - Uzbekistan 11
CO - Colombia 10
EC - Ecuador 10
AU - Australia 9
KE - Kenya 9
CH - Svizzera 8
GR - Grecia 8
EG - Egitto 7
TH - Thailandia 7
AE - Emirati Arabi Uniti 6
BG - Bulgaria 6
JM - Giamaica 6
PH - Filippine 6
RO - Romania 6
MY - Malesia 5
PE - Perù 5
TW - Taiwan 5
AL - Albania 4
CR - Costa Rica 4
DZ - Algeria 4
HN - Honduras 4
PS - Palestinian Territory 4
PY - Paraguay 4
TN - Tunisia 4
UY - Uruguay 4
AZ - Azerbaigian 3
BO - Bolivia 3
ET - Etiopia 3
HU - Ungheria 3
KG - Kirghizistan 3
NG - Nigeria 3
NI - Nicaragua 3
NO - Norvegia 3
NP - Nepal 3
SN - Senegal 3
BH - Bahrain 2
CY - Cipro 2
EU - Europa 2
GE - Georgia 2
HR - Croazia 2
KZ - Kazakistan 2
LY - Libia 2
MU - Mauritius 2
PA - Panama 2
PT - Portogallo 2
SY - Repubblica araba siriana 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
GA - Gabon 1
GT - Guatemala 1
IM - Isola di Man 1
MN - Mongolia 1
OM - Oman 1
QA - Qatar 1
Totale 10.098
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Città #
Singapore 764
Chandler 413
Ashburn 383
Amsterdam 359
San Jose 355
Rome 178
Beijing 148
New York 132
Dublin 119
Los Angeles 117
Hefei 96
Ho Chi Minh City 95
Hong Kong 84
Lauterbourg 83
Jakarta 82
Tokyo 82
Milan 77
Frankfurt am Main 71
Hanoi 69
Munich 67
San Mateo 67
Helsinki 66
Dallas 61
Council Bluffs 58
The Dalles 57
Jacksonville 54
Boston 50
São Paulo 48
Marseille 42
Nanjing 39
Princeton 38
Moscow 36
Boardman 33
Santa Clara 33
Seoul 33
Nuremberg 32
Houston 31
Chicago 30
Kent 30
Nürnberg 30
Wilmington 29
Buffalo 28
Bremen 27
Dearborn 27
Montreal 26
Orem 25
Paris 24
Woodbridge 24
Denver 22
Seattle 22
Brooklyn 21
Düsseldorf 21
Redwood City 21
Brussels 20
Ann Arbor 19
Johannesburg 19
Warsaw 19
London 18
Turku 18
Pune 17
Atlanta 16
Haiphong 16
Hyderabad 16
Nanchang 16
Mexico City 15
Shanghai 15
Toronto 15
Vienna 15
Wroclaw 15
Lappeenranta 14
Rio de Janeiro 14
Da Nang 13
Abidjan 12
Fairfield 12
Poplar 12
Redmond 12
Stockholm 12
Amman 11
Chennai 11
Espoo 11
Izmir 11
Lawrence 11
Phoenix 11
Busto Arsizio 10
Charlotte 10
Modena 10
Naples 10
Tashkent 10
Bexley 9
Bologna 9
Brno 9
Dhaka 9
Manchester 9
Norwalk 9
Porto Alegre 9
Baghdad 8
Cattolica 8
Kish 8
Roubaix 8
San Francisco 8
Totale 5.548
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Nome #
Intestinal Permeability in Children with Functional Gastrointestinal Disorders: The Effects of Diet 517
Validation and cross-cultural adaptation of the Italian version of the Pediatric Eating Assessment Tool (I-PEDI-EAT-10) in genetic syndromes 372
Enhanced human brain associative plasticity in Costello syndrome 227
Increased sleep spindle activity in patients with Costello syndrome (HRAS gene mutation) 192
Increased sleep spindle activity in patients with Costello syndrome (HRAS gene mutation) 180
Upper airway surgery of obstructive sleep apnea in pycnodysostosis: case report and literature review 178
Pycnodysostosis with extreme sleep apnea: a possible alternative to tracheotomy 170
Decreased bone mineral density in Costello syndrome 166
Body mass index in type 2 spinal muscular atrophy: a longitudinal study 160
Long Term Memory Profile of Disorders Associated with Dysregulation of the RAS-MAPK Signaling Cascade. 158
Epilepsy and BRAF mutations: Phenotypes, natural history and genotype-phenotype correlations 156
What to expect of feeding abilities and nutritional aspects in achondroplasia patients: a narrative review 155
Characterization of bone homeostasis in individuals affected by cardio-facio-cutaneous syndrome 146
A multi-step approach to overcome challenges in the management of head and neck lymphatic malformations, and response to treatment 143
Can the CHOP-INTEND be used as An Outcome Measure in the First Months of Age? Implications for Clinical Trials and Real World Data 141
INCREASED LEVELS OF GLIAL CELL-DERIVED NEUROTROPHIC FACTOR IN CSF OF INFANTS WITH SMA 141
Metabolic profiling of Costello syndrome: insights from a single-center cohort 138
HYPOVENTILATION IN REM SLEEP IN A CASE OF 17p11.2 DELETION (SMITH-MAGENIS SYNDROME) 136
Dystonia in Costello syndrome 136
Cross‐cultural adaptation and validation of the Italian version of the Montreal Children's Hospital Feeding Scale in a special healthcare needs population 131
Efficacy and safety of growth hormone therapy in children with Noonan syndrome 129
Enlarged spinal nerve roots in RASopathies: report of two cases 127
Drooling outcome measures in paediatric disability: a systematic review 127
Visual function and ophthalmological findings in CHARGE syndrome: Revision of literature, definition of a new clinical spectrum and genotype phenotype correlation 126
Ligamentous laxity in children with achondroplasia: prevalence, joint involvement, and implications for early intervention strategies 125
Genotype-cardiac phenotype correlations in a large single-center cohort of patients affected by Rasopathies: clinical implications and literature review 124
How pain affect real life of children and adults with achondroplasia: a systematic review 122
Cross-cultural adaptation and validation of the Italian version of the Montreal Children's Hospital Feeding Scale in a special healthcare needs population 120
Clarifying main nutritional aspects and resting energy expenditure in children with Smith-Magenis syndrome 120
Embryopathy Following Maternal Biliopancreatic Diversion: Is Bariatric Surgery Really Safe? 120
The "FEEDS (FEeding Eating Deglutition Skills)" over Time Study in Cardiofaciocutaneous Syndrome 120
Body mass index in type 2 spinal muscular atrophy: a longitudinal study 119
From feeding challenges to oral-motor dyspraxia: a comprehensive description of 10 new cases with CTNNB1 syndrome. 118
Melanocytic nevi in RASopathies: insights on dermatological diagnostic handles 117
Management of nutritional and gastrointestinal issues in RASopathies: a narrative review 117
Wolf-Hirschhorn syndrome with improvement of renal function 116
The impact of blenderized tube feeding on gastrointestinal symptoms, a scoping review 116
Bone tissue homeostasis and risk of fractures in Costello syndrome: a four-year follow-up study 115
Respiratory and gastrointestinal dysfunctions associated with auriculo-condylar syndrome and a homozygous PLCB4 loss-of-function mutation 114
Prevalence of bladder cancer in Costello syndrome: New insights to drive clinical decision-making 112
Trisomy 22 mosaicism from prenatal to postnatal findings: a case series and systematic review of the literature 111
Congenital immunodeficiency in an individual with Wiedemann–Steiner syndrome due to a novel missense mutation in KMT2A 109
Musculo‑skeletal phenotype of Costello syndrome and cardio‑facio‑cutaneous syndrome: insights on the functional assessment status. 109
Pain in individuals with RASopathies: Prevalence and clinical characterization in a sample of 80 affected patients 107
Smith–Magenis syndrome: Report of morphological and new functional cardiac findings with review of the literature 107
Broadening the phenotypic spectrum of Beta3GalT6-associated phenotype 107
Validation and cross-cultural adaptation of the Italian version of the Pediatric Eating Assessment Tool (I-PEDI-EAT-10) in genetic syndromes 105
Differential Effects of HRAS Mutation on LTP-Like Activity Induced by Different Protocols of Repetitive Transcranial Magnetic Stimulation 105
Metabolic profile of patients with Smith-Magenis syndrome: an observational study with literature review 102
Pulmonary artery sling in a 22-month-old boy with 18q deletion syndrome: A rare but possible association 102
Phosphatase and tensin homolog (PTEN) variants and epilepsy: A multicenter case series 102
Basedow-Graves’ disease in a pediatric patient with Sticlker syndrome, a new endocrine finding to improve personalized treatment 101
Predicting the clinical trajectory of feeding and swallowing abilities in CHARGE syndrome 100
How pain affect real life of children and adults with achondroplasia: A systematic review 97
Dermatoscopic and confocal microscopy features of widespread inflammatory linear verrucous epidermal nevus 97
Aberrant N-myristoylation as a prelude to autoimmune manifestations in patients with SHOC2 mutations 96
Biallelic TRNT1 variants in a child with B cell immunodeficiency, periodic fever and developmental delay without sideroblastic anemia (SIFD variant) 96
Personalized treatment in a boy with NF1 and inoperable plexiform orbital neurofibroma 95
Treatment of dystonia using trihexyphenidyl in costello syndrome 95
One case of anetoderma post-vitamin K1 injection in a newborn 94
Do rare genetic conditions exhibit a specific phonotype? A comprehensive description of the vocal traits associated with Crisponi/Cold-Induced Sweating Syndrome type 1. 93
CRANIOSYNOSTOSIS IN PATIENTS WITH NOONAN SYNDROME CAUSED BY GERMLINE KRAS MUTATIONS 93
Oligonephronia and Wolf-Hirschhorn syndrome: A further observation 92
Understanding Growth Failure in Costello Syndrome: Increased Resting Energy Expenditure 92
Feeding and nutritional key features of Crisponi/cold-induced sweating syndrome 91
Mutations impairing GSK3-mediated MAF phosphorylation cause cataract, deafness, intellectual disability, seizures, and a down syndrome-like facies 91
Old treatments for new genetic conditions: Sirolimus therapy in a child affected by mosaic overgrowth with fibroadipose hyperplasia. 88
Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay 88
Predicting the clinical trajectory of feeding and swallowing abilities in CHARGE syndrome 87
Skeletal abnormalities are common features in Aymé-Gripp syndrome 84
Cardiofaciocutaneous syndrome and immunodeficiency: data from an international multicenter cohort 80
P.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas 77
RASopathies and sigmoid-shaped ventricular septum morphology: evidence of a previously unappreciated cardiac phenotype 76
Cantú syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants 76
Psychopathological features in Noonan syndrome 74
Rare and de novo coding variants in chromodomain genes in Chiari I malformation 73
Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype 72
Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome 68
Nasal polyposis in pediatric patients with Cornelia de Lange syndrome: endoscopic diagnosis, treatment and follow up in two case reports 67
Bladder and bowel dysfunction in Down syndrome with neural tube defect: case report and review of the literature 66
Impact of Costello syndrome on growth patterns 65
Smith Magenis syndrome: First case of congenital heart defect in a patient with Rai1 mutation 64
First evidence of a therapeutic effect of miransertib in a teenager with Proteus syndrome and ovarian carcinoma 62
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 55
The dark side of COVID-19: The need of integrated medicine for children with special care needs 54
Giant subcortical heterotopia involving the temporo-parieto-occipital region: a challenging cause of drug-resistant epilepsy 50
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy 45
Prevalence of gastrointestinal disorders in individuals with RASopathies: May RAS/MAP/ERK pathway dysfunctions be a model of neuropathic pain and visceral hypersensitivity? 42
Cross-cultural adaptation of the Italian version of the "Child and Youth Mental Health Instrument for Developmental Disabilities" (I-ChYMH-DD) 1
Totale 10.250
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Categoria #
all - tutte 42.660
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 42.660
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202141 0 0 0 0 0 0 0 0 0 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
2025/20264.674 627 167 376 589 720 581 818 220 341 235 0 0
Totale 10.250