IRIS UniCatt

Leoni, Chiara
 Distribuzione geografica
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Continente #
NA - Nord America 4.477
EU - Europa 3.317
AS - Asia 3.046
SA - Sud America 574
Continente sconosciuto - Info sul continente non disponibili 154
AF - Africa 105
OC - Oceania 10
Totale 11.683
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Nazione #
US - Stati Uniti d'America 4.313
SG - Singapore 1.401
IT - Italia 771
DE - Germania 670
CN - Cina 640
BR - Brasile 470
SE - Svezia 440
NL - Olanda 428
VN - Vietnam 279
FR - Francia 259
IE - Irlanda 129
FI - Finlandia 128
GB - Regno Unito 126
IN - India 118
HK - Hong Kong 103
ID - Indonesia 98
CA - Canada 91
UA - Ucraina 88
JP - Giappone 85
BD - Bangladesh 81
RU - Federazione Russa 70
PL - Polonia 45
MX - Messico 41
AR - Argentina 40
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 19
VE - Venezuela 15
CZ - Repubblica Ceca 13
IR - Iran 13
LT - Lituania 13
PK - Pakistan 13
CI - Costa d'Avorio 12
EC - Ecuador 12
CL - Cile 11
IL - Israele 11
JO - Giordania 11
UZ - Uzbekistan 11
AU - Australia 10
CO - Colombia 10
JM - Giamaica 10
CH - Svizzera 9
KE - Kenya 9
GR - Grecia 8
EG - Egitto 7
TH - Thailandia 7
AE - Emirati Arabi Uniti 6
BG - Bulgaria 6
CR - Costa Rica 6
MY - Malesia 6
PH - Filippine 6
RO - Romania 6
PE - Perù 5
TW - Taiwan 5
AL - Albania 4
DZ - Algeria 4
HN - Honduras 4
PS - Palestinian Territory 4
PY - Paraguay 4
SI - Slovenia 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
SV - El Salvador 2
SY - Repubblica araba siriana 2
TT - Trinidad e Tobago 2
A2 - ???statistics.table.value.countryCode.A2??? 1
BB - Barbados 1
BW - Botswana 1
BY - Bielorussia 1
CG - Congo 1
EE - Estonia 1
GA - Gabon 1
Totale 11.522
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Città #
Singapore 771
San Jose 484
Ashburn 465
Chandler 413
Amsterdam 360
Rome 199
Los Angeles 178
Beijing 152
New York 141
Dublin 120
Hefei 96
Ho Chi Minh City 95
Milan 92
Hong Kong 90
Lauterbourg 83
Tokyo 83
Jakarta 82
Dallas 73
Frankfurt am Main 71
Hanoi 69
Munich 67
San Mateo 67
Helsinki 66
Council Bluffs 60
The Dalles 58
Jacksonville 56
Boston 52
São Paulo 48
Boardman 44
Marseille 42
Santa Clara 41
Nanjing 39
Atlanta 38
Chicago 38
Princeton 38
Moscow 37
Houston 34
Seoul 33
Nuremberg 32
Montreal 31
Buffalo 30
Kent 30
Nürnberg 30
Orem 30
Wilmington 29
Bremen 27
Dearborn 27
Denver 26
Brooklyn 24
Paris 24
Seattle 24
Woodbridge 24
Phoenix 22
Düsseldorf 21
Redwood City 21
Warsaw 21
Brussels 20
Ann Arbor 19
Johannesburg 19
London 19
Toronto 19
Shanghai 18
Turku 18
Pune 17
Haiphong 16
Hyderabad 16
Mexico City 16
Nanchang 16
Stockholm 16
San Francisco 15
Vienna 15
Wroclaw 15
Lappeenranta 14
Rio de Janeiro 14
Da Nang 13
Abidjan 12
Fairfield 12
Naples 12
Poplar 12
Redmond 12
Amman 11
Chennai 11
Espoo 11
Izmir 11
Las Vegas 11
Lawrence 11
Bologna 10
Busto Arsizio 10
Charlotte 10
Modena 10
St Louis 10
Tashkent 10
Bexley 9
Brno 9
Dhaka 9
Manchester 9
Norwalk 9
Porto Alegre 9
Baghdad 8
Cattolica 8
Totale 6.019
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Nome #
Intestinal Permeability in Children with Functional Gastrointestinal Disorders: The Effects of Diet 580
Validation and cross-cultural adaptation of the Italian version of the Pediatric Eating Assessment Tool (I-PEDI-EAT-10) in genetic syndromes 423
Body mass index in type 2 spinal muscular atrophy: a longitudinal study 316
Efficacy and safety of growth hormone therapy in children with Noonan syndrome 306
Prevalence of bladder cancer in Costello syndrome: New insights to drive clinical decision-making 288
Enhanced human brain associative plasticity in Costello syndrome 229
Increased sleep spindle activity in patients with Costello syndrome (HRAS gene mutation) 198
Increased sleep spindle activity in patients with Costello syndrome (HRAS gene mutation) 185
Upper airway surgery of obstructive sleep apnea in pycnodysostosis: case report and literature review 182
Pycnodysostosis with extreme sleep apnea: a possible alternative to tracheotomy 177
A multi-step approach to overcome challenges in the management of head and neck lymphatic malformations, and response to treatment 174
Decreased bone mineral density in Costello syndrome 171
What to expect of feeding abilities and nutritional aspects in achondroplasia patients: a narrative review 168
Epilepsy and BRAF mutations: Phenotypes, natural history and genotype-phenotype correlations 161
Long Term Memory Profile of Disorders Associated with Dysregulation of the RAS-MAPK Signaling Cascade. 159
Can the CHOP-INTEND be used as An Outcome Measure in the First Months of Age? Implications for Clinical Trials and Real World Data 156
Clarifying main nutritional aspects and resting energy expenditure in children with Smith-Magenis syndrome 154
Characterization of bone homeostasis in individuals affected by cardio-facio-cutaneous syndrome 149
Metabolic profiling of Costello syndrome: insights from a single-center cohort 147
INCREASED LEVELS OF GLIAL CELL-DERIVED NEUROTROPHIC FACTOR IN CSF OF INFANTS WITH SMA 145
Genotype-cardiac phenotype correlations in a large single-center cohort of patients affected by Rasopathies: clinical implications and literature review 144
Drooling outcome measures in paediatric disability: a systematic review 144
Ligamentous laxity in children with achondroplasia: prevalence, joint involvement, and implications for early intervention strategies 142
Trisomy 22 mosaicism from prenatal to postnatal findings: a case series and systematic review of the literature 142
Cross‐cultural adaptation and validation of the Italian version of the Montreal Children's Hospital Feeding Scale in a special healthcare needs population 140
Dystonia in Costello syndrome 140
HYPOVENTILATION IN REM SLEEP IN A CASE OF 17p11.2 DELETION (SMITH-MAGENIS SYNDROME) 138
Biallelic TRNT1 variants in a child with B cell immunodeficiency, periodic fever and developmental delay without sideroblastic anemia (SIFD variant) 138
The "FEEDS (FEeding Eating Deglutition Skills)" over Time Study in Cardiofaciocutaneous Syndrome 137
How pain affect real life of children and adults with achondroplasia: a systematic review 133
Cross-cultural adaptation and validation of the Italian version of the Montreal Children's Hospital Feeding Scale in a special healthcare needs population 133
Visual function and ophthalmological findings in CHARGE syndrome: Revision of literature, definition of a new clinical spectrum and genotype phenotype correlation 132
Enlarged spinal nerve roots in RASopathies: report of two cases 131
Predicting the clinical trajectory of feeding and swallowing abilities in CHARGE syndrome 129
Body mass index in type 2 spinal muscular atrophy: a longitudinal study 127
Embryopathy Following Maternal Biliopancreatic Diversion: Is Bariatric Surgery Really Safe? 125
From feeding challenges to oral-motor dyspraxia: a comprehensive description of 10 new cases with CTNNB1 syndrome. 124
Respiratory and gastrointestinal dysfunctions associated with auriculo-condylar syndrome and a homozygous PLCB4 loss-of-function mutation 124
Pain in individuals with RASopathies: Prevalence and clinical characterization in a sample of 80 affected patients 121
Bone tissue homeostasis and risk of fractures in Costello syndrome: a four-year follow-up study 120
Management of nutritional and gastrointestinal issues in RASopathies: a narrative review 120
Melanocytic nevi in RASopathies: insights on dermatological diagnostic handles 119
The impact of blenderized tube feeding on gastrointestinal symptoms, a scoping review 118
Broadening the phenotypic spectrum of Beta3GalT6-associated phenotype 117
Aberrant N-myristoylation as a prelude to autoimmune manifestations in patients with SHOC2 mutations 116
Wolf-Hirschhorn syndrome with improvement of renal function 116
Congenital immunodeficiency in an individual with Wiedemann–Steiner syndrome due to a novel missense mutation in KMT2A 116
Differential Effects of HRAS Mutation on LTP-Like Activity Induced by Different Protocols of Repetitive Transcranial Magnetic Stimulation 114
Musculo‑skeletal phenotype of Costello syndrome and cardio‑facio‑cutaneous syndrome: insights on the functional assessment status. 114
Basedow-Graves’ disease in a pediatric patient with Sticlker syndrome, a new endocrine finding to improve personalized treatment 113
Smith–Magenis syndrome: Report of morphological and new functional cardiac findings with review of the literature 113
Phosphatase and tensin homolog (PTEN) variants and epilepsy: A multicenter case series 111
Validation and cross-cultural adaptation of the Italian version of the Pediatric Eating Assessment Tool (I-PEDI-EAT-10) in genetic syndromes 109
Predicting the clinical trajectory of feeding and swallowing abilities in CHARGE syndrome 107
Pulmonary artery sling in a 22-month-old boy with 18q deletion syndrome: A rare but possible association 107
Metabolic profile of patients with Smith-Magenis syndrome: an observational study with literature review 105
How pain affect real life of children and adults with achondroplasia: A systematic review 104
Do rare genetic conditions exhibit a specific phonotype? A comprehensive description of the vocal traits associated with Crisponi/Cold-Induced Sweating Syndrome type 1. 103
Feeding and nutritional key features of Crisponi/cold-induced sweating syndrome 102
Dermatoscopic and confocal microscopy features of widespread inflammatory linear verrucous epidermal nevus 100
Personalized treatment in a boy with NF1 and inoperable plexiform orbital neurofibroma 99
Cardiofaciocutaneous syndrome and immunodeficiency: data from an international multicenter cohort 99
One case of anetoderma post-vitamin K1 injection in a newborn 98
Treatment of dystonia using trihexyphenidyl in costello syndrome 98
Mutations impairing GSK3-mediated MAF phosphorylation cause cataract, deafness, intellectual disability, seizures, and a down syndrome-like facies 98
Oligonephronia and Wolf-Hirschhorn syndrome: A further observation 97
Understanding Growth Failure in Costello Syndrome: Increased Resting Energy Expenditure 96
CRANIOSYNOSTOSIS IN PATIENTS WITH NOONAN SYNDROME CAUSED BY GERMLINE KRAS MUTATIONS 95
Bladder and bowel dysfunction in Down syndrome with neural tube defect: case report and review of the literature 92
Old treatments for new genetic conditions: Sirolimus therapy in a child affected by mosaic overgrowth with fibroadipose hyperplasia. 92
Skeletal abnormalities are common features in Aymé-Gripp syndrome 92
Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay 90
P.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas 86
RASopathies and sigmoid-shaped ventricular septum morphology: evidence of a previously unappreciated cardiac phenotype 82
Psychopathological features in Noonan syndrome 81
Cantú syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants 79
Nasal polyposis in pediatric patients with Cornelia de Lange syndrome: endoscopic diagnosis, treatment and follow up in two case reports 78
Rare and de novo coding variants in chromodomain genes in Chiari I malformation 77
Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype 75
Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome 74
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 70
Smith Magenis syndrome: First case of congenital heart defect in a patient with Rai1 mutation 68
Impact of Costello syndrome on growth patterns 68
First evidence of a therapeutic effect of miransertib in a teenager with Proteus syndrome and ovarian carcinoma 67
The dark side of COVID-19: The need of integrated medicine for children with special care needs 58
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy 53
Giant subcortical heterotopia involving the temporo-parieto-occipital region: a challenging cause of drug-resistant epilepsy 53
Prevalence of gastrointestinal disorders in individuals with RASopathies: May RAS/MAP/ERK pathway dysfunctions be a model of neuropathic pain and visceral hypersensitivity? 44
Family phenotypic profile in hereditary hemorrhagic telangiectasia: genotype-phenotype correlation in a pediatric Italian population 20
Cross-cultural adaptation of the Italian version of the "Child and Youth Mental Health Instrument for Developmental Disabilities" (I-ChYMH-DD) 17
Urinary Multi-Omics Profiling Reveals Systemic Molecular Alterations in Progressive External Ophthalmoplegia 16
Cross-cultural adaptation of the Italian version of the “Child and Youth Mental Health Instrument for Developmental Disabilities” (I-ChYMH-DD) 12
Multidisciplinary Management of Costello Syndrome: Current Perspectives 3
Totale 11.683
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Categoria #
all - tutte 49.313
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 49.313
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022462 0 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
2025/20265.126 627 167 376 589 720 581 818 220 341 325 198 164
2026/2027981 289 692 0 0 0 0 0 0 0 0 0 0
Totale 11.683