IRIS UniCatt

Leoni, Chiara
 Distribuzione geografica
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Continente #
NA - Nord America 3.554
EU - Europa 3.218
AS - Asia 3.002
SA - Sud America 567
AF - Africa 104
OC - Oceania 10
Continente sconosciuto - Info sul continente non disponibili 3
Totale 10.458
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Nazione #
US - Stati Uniti d'America 3.408
SG - Singapore 1.396
IT - Italia 702
DE - Germania 670
CN - Cina 632
BR - Brasile 467
SE - Svezia 436
NL - Olanda 426
VN - Vietnam 279
FR - Francia 255
IE - Irlanda 127
FI - Finlandia 125
GB - Regno Unito 118
IN - India 117
HK - Hong Kong 100
ID - Indonesia 98
UA - Ucraina 88
JP - Giappone 84
CA - Canada 82
RU - Federazione Russa 70
BD - Bangladesh 55
PL - Polonia 42
AR - Argentina 39
MX - Messico 39
KR - Corea 37
TR - Turchia 36
ES - Italia 33
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
AU - Australia 10
CO - Colombia 10
EC - Ecuador 10
CH - Svizzera 9
KE - Kenya 9
GR - Grecia 8
JM - Giamaica 8
EG - Egitto 7
TH - Thailandia 7
AE - Emirati Arabi Uniti 6
BG - Bulgaria 6
MY - Malesia 6
PH - Filippine 6
RO - Romania 6
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
MD - Moldavia 3
NG - Nigeria 3
NI - Nicaragua 3
NO - Norvegia 3
NP - Nepal 3
SN - Senegal 3
TZ - Tanzania 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
Totale 10.451
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Città #
Singapore 766
San Jose 423
Chandler 413
Ashburn 396
Amsterdam 360
Rome 187
Beijing 148
New York 137
Dublin 119
Los Angeles 119
Hefei 96
Ho Chi Minh City 95
Hong Kong 87
Milan 85
Lauterbourg 83
Jakarta 82
Tokyo 82
Frankfurt am Main 71
Hanoi 69
Munich 67
San Mateo 67
Helsinki 66
Dallas 65
Council Bluffs 60
The Dalles 57
Jacksonville 54
Boston 50
São Paulo 48
Boardman 42
Marseille 42
Nanjing 39
Princeton 38
Moscow 37
Chicago 36
Santa Clara 34
Seoul 33
Nuremberg 32
Houston 31
Kent 30
Montreal 30
Nürnberg 30
Wilmington 29
Buffalo 28
Bremen 27
Dearborn 27
Orem 25
Paris 24
Seattle 24
Woodbridge 24
Brooklyn 23
Denver 22
Düsseldorf 21
Redwood City 21
Brussels 20
Ann Arbor 19
Atlanta 19
Johannesburg 19
London 19
Warsaw 19
Turku 18
Pune 17
Haiphong 16
Hyderabad 16
Nanchang 16
Toronto 16
Mexico City 15
Shanghai 15
Vienna 15
Wroclaw 15
Lappeenranta 14
Rio de Janeiro 14
Da Nang 13
Abidjan 12
Fairfield 12
Phoenix 12
Poplar 12
Redmond 12
Stockholm 12
Amman 11
Chennai 11
Espoo 11
Izmir 11
Lawrence 11
Naples 11
Busto Arsizio 10
Charlotte 10
Modena 10
St Louis 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
Totale 5.699
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Nome #
Intestinal Permeability in Children with Functional Gastrointestinal Disorders: The Effects of Diet 523
Validation and cross-cultural adaptation of the Italian version of the Pediatric Eating Assessment Tool (I-PEDI-EAT-10) in genetic syndromes 391
Enhanced human brain associative plasticity in Costello syndrome 228
Increased sleep spindle activity in patients with Costello syndrome (HRAS gene mutation) 194
Increased sleep spindle activity in patients with Costello syndrome (HRAS gene mutation) 182
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 175
A multi-step approach to overcome challenges in the management of head and neck lymphatic malformations, and response to treatment 168
Decreased bone mineral density in Costello syndrome 167
What to expect of feeding abilities and nutritional aspects in achondroplasia patients: a narrative review 165
Body mass index in type 2 spinal muscular atrophy: a longitudinal study 165
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 157
Can the CHOP-INTEND be used as An Outcome Measure in the First Months of Age? Implications for Clinical Trials and Real World Data 147
Characterization of bone homeostasis in individuals affected by cardio-facio-cutaneous syndrome 147
INCREASED LEVELS OF GLIAL CELL-DERIVED NEUROTROPHIC FACTOR IN CSF OF INFANTS WITH SMA 144
Metabolic profiling of Costello syndrome: insights from a single-center cohort 142
Dystonia in Costello syndrome 139
Genotype-cardiac phenotype correlations in a large single-center cohort of patients affected by Rasopathies: clinical implications and literature review 139
HYPOVENTILATION IN REM SLEEP IN A CASE OF 17p11.2 DELETION (SMITH-MAGENIS SYNDROME) 138
Ligamentous laxity in children with achondroplasia: prevalence, joint involvement, and implications for early intervention strategies 137
Drooling outcome measures in paediatric disability: a systematic review 136
Cross‐cultural adaptation and validation of the Italian version of the Montreal Children's Hospital Feeding Scale in a special healthcare needs population 135
Efficacy and safety of growth hormone therapy in children with Noonan syndrome 134
Visual function and ophthalmological findings in CHARGE syndrome: Revision of literature, definition of a new clinical spectrum and genotype phenotype correlation 129
Enlarged spinal nerve roots in RASopathies: report of two cases 127
How pain affect real life of children and adults with achondroplasia: a systematic review 126
Cross-cultural adaptation and validation of the Italian version of the Montreal Children's Hospital Feeding Scale in a special healthcare needs population 126
Clarifying main nutritional aspects and resting energy expenditure in children with Smith-Magenis syndrome 124
The "FEEDS (FEeding Eating Deglutition Skills)" over Time Study in Cardiofaciocutaneous Syndrome 123
Embryopathy Following Maternal Biliopancreatic Diversion: Is Bariatric Surgery Really Safe? 122
Body mass index in type 2 spinal muscular atrophy: a longitudinal study 121
Trisomy 22 mosaicism from prenatal to postnatal findings: a case series and systematic review of the literature 120
From feeding challenges to oral-motor dyspraxia: a comprehensive description of 10 new cases with CTNNB1 syndrome. 120
Respiratory and gastrointestinal dysfunctions associated with auriculo-condylar syndrome and a homozygous PLCB4 loss-of-function mutation 119
Management of nutritional and gastrointestinal issues in RASopathies: a narrative review 119
Melanocytic nevi in RASopathies: insights on dermatological diagnostic handles 118
Bone tissue homeostasis and risk of fractures in Costello syndrome: a four-year follow-up study 117
The impact of blenderized tube feeding on gastrointestinal symptoms, a scoping review 117
Wolf-Hirschhorn syndrome with improvement of renal function 116
Prevalence of bladder cancer in Costello syndrome: New insights to drive clinical decision-making 115
Congenital immunodeficiency in an individual with Wiedemann–Steiner syndrome due to a novel missense mutation in KMT2A 114
Broadening the phenotypic spectrum of Beta3GalT6-associated phenotype 113
Pain in individuals with RASopathies: Prevalence and clinical characterization in a sample of 80 affected patients 112
Musculo‑skeletal phenotype of Costello syndrome and cardio‑facio‑cutaneous syndrome: insights on the functional assessment status. 111
Phosphatase and tensin homolog (PTEN) variants and epilepsy: A multicenter case series 109
Aberrant N-myristoylation as a prelude to autoimmune manifestations in patients with SHOC2 mutations 109
Biallelic TRNT1 variants in a child with B cell immunodeficiency, periodic fever and developmental delay without sideroblastic anemia (SIFD variant) 109
Smith–Magenis syndrome: Report of morphological and new functional cardiac findings with review of the literature 109
Validation and cross-cultural adaptation of the Italian version of the Pediatric Eating Assessment Tool (I-PEDI-EAT-10) in genetic syndromes 107
Differential Effects of HRAS Mutation on LTP-Like Activity Induced by Different Protocols of Repetitive Transcranial Magnetic Stimulation 107
Predicting the clinical trajectory of feeding and swallowing abilities in CHARGE syndrome 105
Pulmonary artery sling in a 22-month-old boy with 18q deletion syndrome: A rare but possible association 104
Basedow-Graves’ disease in a pediatric patient with Sticlker syndrome, a new endocrine finding to improve personalized treatment 104
Metabolic profile of patients with Smith-Magenis syndrome: an observational study with literature review 103
How pain affect real life of children and adults with achondroplasia: A systematic review 102
Do rare genetic conditions exhibit a specific phonotype? A comprehensive description of the vocal traits associated with Crisponi/Cold-Induced Sweating Syndrome type 1. 99
Personalized treatment in a boy with NF1 and inoperable plexiform orbital neurofibroma 98
Feeding and nutritional key features of Crisponi/cold-induced sweating syndrome 98
Dermatoscopic and confocal microscopy features of widespread inflammatory linear verrucous epidermal nevus 98
One case of anetoderma post-vitamin K1 injection in a newborn 96
Treatment of dystonia using trihexyphenidyl in costello syndrome 96
Mutations impairing GSK3-mediated MAF phosphorylation cause cataract, deafness, intellectual disability, seizures, and a down syndrome-like facies 96
CRANIOSYNOSTOSIS IN PATIENTS WITH NOONAN SYNDROME CAUSED BY GERMLINE KRAS MUTATIONS 94
Predicting the clinical trajectory of feeding and swallowing abilities in CHARGE syndrome 92
Oligonephronia and Wolf-Hirschhorn syndrome: A further observation 92
Understanding Growth Failure in Costello Syndrome: Increased Resting Energy Expenditure 92
Old treatments for new genetic conditions: Sirolimus therapy in a child affected by mosaic overgrowth with fibroadipose hyperplasia. 91
Skeletal abnormalities are common features in Aymé-Gripp syndrome 89
Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay 88
Cardiofaciocutaneous syndrome and immunodeficiency: data from an international multicenter cohort 85
RASopathies and sigmoid-shaped ventricular septum morphology: evidence of a previously unappreciated cardiac phenotype 78
P.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas 78
Psychopathological features in Noonan syndrome 76
Cantú syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants 76
Nasal polyposis in pediatric patients with Cornelia de Lange syndrome: endoscopic diagnosis, treatment and follow up in two case reports 75
Rare and de novo coding variants in chromodomain genes in Chiari I malformation 75
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 70
Bladder and bowel dysfunction in Down syndrome with neural tube defect: case report and review of the literature 69
First evidence of a therapeutic effect of miransertib in a teenager with Proteus syndrome and ovarian carcinoma 65
Impact of Costello syndrome on growth patterns 65
Smith Magenis syndrome: First case of congenital heart defect in a patient with Rai1 mutation 64
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 60
The dark side of COVID-19: The need of integrated medicine for children with special care needs 56
Giant subcortical heterotopia involving the temporo-parieto-occipital region: a challenging cause of drug-resistant epilepsy 52
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy 48
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) 14
Totale 10.605
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Categoria #
all - tutte 45.188
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 45.188
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20212 0 0 0 0 0 0 0 0 0 0 0 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
2025/20265.029 627 167 376 589 720 581 818 220 341 325 198 67
Totale 10.605