IRIS UniCatt

Leoni, Chiara
 Distribuzione geografica
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Continente #
EU - Europa 2.099
NA - Nord America 1.827
AS - Asia 971
SA - Sud America 201
AF - Africa 29
OC - Oceania 5
Continente sconosciuto - Info sul continente non disponibili 3
Totale 5.135
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Nazione #
US - Stati Uniti d'America 1.791
DE - Germania 579
SE - Svezia 419
IT - Italia 410
SG - Singapore 409
CN - Cina 283
BR - Brasile 183
IE - Irlanda 124
FR - Francia 117
FI - Finlandia 84
ID - Indonesia 81
UA - Ucraina 81
GB - Regno Unito 64
RU - Federazione Russa 60
IN - India 53
NL - Olanda 49
KR - Corea 35
CA - Canada 29
HK - Hong Kong 24
TR - Turchia 24
AT - Austria 22
BE - Belgio 20
CZ - Repubblica Ceca 13
IR - Iran 12
CI - Costa d'Avorio 11
ES - Italia 11
LT - Lituania 9
IL - Israele 8
JP - Giappone 7
MA - Marocco 7
PL - Polonia 7
CH - Svizzera 6
GR - Grecia 6
MX - Messico 6
VN - Vietnam 6
AR - Argentina 5
AU - Australia 5
BG - Bulgaria 5
IQ - Iraq 4
TH - Thailandia 4
VE - Venezuela 4
EC - Ecuador 3
KE - Kenya 3
RO - Romania 3
SA - Arabia Saudita 3
ZA - Sudafrica 3
AE - Emirati Arabi Uniti 2
BD - Bangladesh 2
BO - Bolivia 2
CO - Colombia 2
CY - Cipro 2
EU - Europa 2
HR - Croazia 2
HU - Ungheria 2
KG - Kirghizistan 2
MU - Mauritius 2
PE - Perù 2
UZ - Uzbekistan 2
A2 - ???statistics.table.value.countryCode.A2??? 1
AL - Albania 1
AZ - Azerbaigian 1
BH - Bahrain 1
BY - Bielorussia 1
EE - Estonia 1
EG - Egitto 1
GE - Georgia 1
IM - Isola di Man 1
JO - Giordania 1
KZ - Kazakistan 1
LY - Libia 1
MN - Mongolia 1
MY - Malesia 1
NO - Norvegia 1
PA - Panama 1
PT - Portogallo 1
TM - Turkmenistan 1
TN - Tunisia 1
Totale 5.135
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Città #
Chandler 413
Singapore 265
Ashburn 185
Rome 129
Dublin 117
New York 91
Jakarta 80
San Mateo 67
Milan 60
Jacksonville 52
The Dalles 50
Helsinki 49
Los Angeles 44
Boston 43
Marseille 40
Nanjing 39
Princeton 38
Frankfurt am Main 36
Moscow 36
Beijing 35
Hefei 33
Seoul 33
Boardman 30
Nürnberg 30
Wilmington 29
Bremen 27
Dearborn 27
Munich 26
Nuremberg 26
Woodbridge 24
Düsseldorf 21
Hong Kong 21
Houston 21
Redwood City 21
Brussels 20
Ann Arbor 19
Pune 17
Nanchang 16
Seattle 15
Hyderabad 14
São Paulo 14
Toronto 13
Fairfield 12
Redmond 12
Vienna 12
Abidjan 11
Espoo 11
Izmir 11
Lauterbourg 11
Lawrence 11
Busto Arsizio 10
Shanghai 10
Brno 9
Norwalk 9
Cattolica 8
Chicago 8
Kish 8
Rio de Janeiro 8
Council Bluffs 7
Hebei 7
Kunming 7
Lappeenranta 7
Leawood 7
Portsmouth 7
Amsterdam 6
Lancaster 6
London 6
Mountain View 6
Naples 6
North Bergen 6
Santa Clara 6
Shenyang 6
Tokyo 6
Utica 6
Andover 5
Athens 5
Barcelona 5
Brooklyn 5
Falkenstein 5
Grand Rapids 5
Jiaxing 5
Monza 5
Ottawa 5
Paris 5
Venice 5
Augusta 4
Belo Horizonte 4
Bologna 4
Columbus 4
Dallas 4
Edinburgh 4
Forlì 4
Genoa 4
Modena 4
Phoenix 4
Prague 4
Rabat 4
Roubaix 4
Sofia 4
Tel Aviv 4
Totale 2.744
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Nome #
Enhanced human brain associative plasticity in Costello syndrome 199
Increased sleep spindle activity in patients with Costello syndrome (HRAS gene mutation) 141
Validation and cross-cultural adaptation of the Italian version of the Pediatric Eating Assessment Tool (I-PEDI-EAT-10) in genetic syndromes 138
Upper airway surgery of obstructive sleep apnea in pycnodysostosis: case report and literature review 134
Increased sleep spindle activity in patients with Costello syndrome (HRAS gene mutation) 130
Pycnodysostosis with extreme sleep apnea: a possible alternative to tracheotomy 121
Decreased bone mineral density in Costello syndrome 121
Long Term Memory Profile of Disorders Associated with Dysregulation of the RAS-MAPK Signaling Cascade. 110
Dystonia in Costello syndrome 105
INCREASED LEVELS OF GLIAL CELL-DERIVED NEUROTROPHIC FACTOR IN CSF OF INFANTS WITH SMA 104
HYPOVENTILATION IN REM SLEEP IN A CASE OF 17p11.2 DELETION (SMITH-MAGENIS SYNDROME) 101
Intestinal Permeability in Children with Functional Gastrointestinal Disorders: The Effects of Diet 100
Characterization of bone homeostasis in individuals affected by cardio-facio-cutaneous syndrome 97
Metabolic profiling of Costello syndrome: insights from a single-center cohort 94
Embryopathy Following Maternal Biliopancreatic Diversion: Is Bariatric Surgery Really Safe? 89
Enlarged spinal nerve roots in RASopathies: report of two cases 86
Wolf-Hirschhorn syndrome with improvement of renal function 82
Genotype-cardiac phenotype correlations in a large single-center cohort of patients affected by Rasopathies: clinical implications and literature review 82
Bone tissue homeostasis and risk of fractures in Costello syndrome: a four-year follow-up study 80
Melanocytic nevi in RASopathies: insights on dermatological diagnostic handles 79
Drooling outcome measures in paediatric disability: a systematic review 78
Body mass index in type 2 spinal muscular atrophy: a longitudinal study 75
Prevalence of bladder cancer in Costello syndrome: New insights to drive clinical decision-making 74
Epilepsy and BRAF mutations: Phenotypes, natural history and genotype-phenotype correlations 72
What to expect of feeding abilities and nutritional aspects in achondroplasia patients: a narrative review 70
CRANIOSYNOSTOSIS IN PATIENTS WITH NOONAN SYNDROME CAUSED BY GERMLINE KRAS MUTATIONS 70
Respiratory and gastrointestinal dysfunctions associated with auriculo-condylar syndrome and a homozygous PLCB4 loss-of-function mutation 70
Musculo‑skeletal phenotype of Costello syndrome and cardio‑facio‑cutaneous syndrome: insights on the functional assessment status. 70
A multi-step approach to overcome challenges in the management of head and neck lymphatic malformations, and response to treatment 67
Broadening the phenotypic spectrum of Beta3GalT6-associated phenotype 66
Congenital immunodeficiency in an individual with Wiedemann–Steiner syndrome due to a novel missense mutation in KMT2A 65
Pain in individuals with RASopathies: Prevalence and clinical characterization in a sample of 80 affected patients 65
Differential Effects of HRAS Mutation on LTP-Like Activity Induced by Different Protocols of Repetitive Transcranial Magnetic Stimulation 64
Biallelic TRNT1 variants in a child with B cell immunodeficiency, periodic fever and developmental delay without sideroblastic anemia (SIFD variant) 63
Visual function and ophthalmological findings in CHARGE syndrome: Revision of literature, definition of a new clinical spectrum and genotype phenotype correlation 63
Body mass index in type 2 spinal muscular atrophy: a longitudinal study 62
Oligonephronia and Wolf-Hirschhorn syndrome: A further observation 61
Smith–Magenis syndrome: Report of morphological and new functional cardiac findings with review of the literature 60
From feeding challenges to oral-motor dyspraxia: a comprehensive description of 10 new cases with CTNNB1 syndrome. 59
Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay 59
Efficacy and safety of growth hormone therapy in children with Noonan syndrome 58
Understanding Growth Failure in Costello Syndrome: Increased Resting Energy Expenditure 57
Management of nutritional and gastrointestinal issues in RASopathies: a narrative review 57
One case of anetoderma post-vitamin K1 injection in a newborn 56
Treatment of dystonia using trihexyphenidyl in costello syndrome 55
The "FEEDS (FEeding Eating Deglutition Skills)" over Time Study in Cardiofaciocutaneous Syndrome 55
Dermatoscopic and confocal microscopy features of widespread inflammatory linear verrucous epidermal nevus 54
The impact of blenderized tube feeding on gastrointestinal symptoms, a scoping review 54
Basedow-Graves’ disease in a pediatric patient with Sticlker syndrome, a new endocrine finding to improve personalized treatment 53
Can the CHOP-INTEND be used as An Outcome Measure in the First Months of Age? Implications for Clinical Trials and Real World Data 52
Cantú syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants 47
Psychopathological features in Noonan syndrome 46
Old treatments for new genetic conditions: Sirolimus therapy in a child affected by mosaic overgrowth with fibroadipose hyperplasia. 46
Rare and de novo coding variants in chromodomain genes in Chiari I malformation 46
Cross‐cultural adaptation and validation of the Italian version of the Montreal Children's Hospital Feeding Scale in a special healthcare needs population 44
Ligamentous laxity in children with achondroplasia: prevalence, joint involvement, and implications for early intervention strategies 44
Pulmonary artery sling in a 22-month-old boy with 18q deletion syndrome: A rare but possible association 43
Phosphatase and tensin homolog (PTEN) variants and epilepsy: A multicenter case series 43
How pain affect real life of children and adults with achondroplasia: A systematic review 42
How pain affect real life of children and adults with achondroplasia: a systematic review 40
Aberrant N-myristoylation as a prelude to autoimmune manifestations in patients with SHOC2 mutations 40
Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome 40
P.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas 39
Cross-cultural adaptation and validation of the Italian version of the Montreal Children's Hospital Feeding Scale in a special healthcare needs population 38
Impact of Costello syndrome on growth patterns 38
Validation and cross-cultural adaptation of the Italian version of the Pediatric Eating Assessment Tool (I-PEDI-EAT-10) in genetic syndromes 37
Personalized treatment in a boy with NF1 and inoperable plexiform orbital neurofibroma 37
Metabolic profile of patients with Smith-Magenis syndrome: an observational study with literature review 34
Mutations impairing GSK3-mediated MAF phosphorylation cause cataract, deafness, intellectual disability, seizures, and a down syndrome-like facies 34
Clarifying main nutritional aspects and resting energy expenditure in children with Smith-Magenis syndrome 33
Trisomy 22 mosaicism from prenatal to postnatal findings: a case series and systematic review of the literature 32
Predicting the clinical trajectory of feeding and swallowing abilities in CHARGE syndrome 31
Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype 31
Skeletal abnormalities are common features in Aymé-Gripp syndrome 31
The dark side of COVID-19: The need of integrated medicine for children with special care needs 30
Predicting the clinical trajectory of feeding and swallowing abilities in CHARGE syndrome 28
First evidence of a therapeutic effect of miransertib in a teenager with Proteus syndrome and ovarian carcinoma 26
Feeding and nutritional key features of Crisponi/cold-induced sweating syndrome 25
RASopathies and sigmoid-shaped ventricular septum morphology: evidence of a previously unappreciated cardiac phenotype 24
Giant subcortical heterotopia involving the temporo-parieto-occipital region: a challenging cause of drug-resistant epilepsy 20
Smith Magenis syndrome: First case of congenital heart defect in a patient with Rai1 mutation 18
Nasal polyposis in pediatric patients with Cornelia de Lange syndrome: endoscopic diagnosis, treatment and follow up in two case reports 17
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy 16
Bladder and bowel dysfunction in Down syndrome with neural tube defect: case report and review of the literature 12
Prevalence of gastrointestinal disorders in individuals with RASopathies: May RAS/MAP/ERK pathway dysfunctions be a model of neuropathic pain and visceral hypersensitivity? 5
Totale 5.234
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Categoria #
all - tutte 29.095
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 29.095
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/202045 0 0 0 0 0 0 0 0 0 0 32 13
2020/2021195 8 15 9 14 16 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
2024/20251.662 44 43 169 114 161 94 107 89 246 224 371 0
Totale 5.234