IRIS PubliCatt

Leoni, Chiara
 Distribuzione geografica
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Continente #
EU - Europa 1.730
NA - Nord America 1.595
AS - Asia 622
AF - Africa 16
SA - Sud America 9
Continente sconosciuto - Info sul continente non disponibili 3
OC - Oceania 3
Totale 3.978
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Nazione #
US - Stati Uniti d'America 1.574
DE - Germania 499
SE - Svezia 403
IT - Italia 306
SG - Singapore 243
CN - Cina 192
IE - Irlanda 121
ID - Indonesia 81
UA - Ucraina 79
FR - Francia 69
FI - Finlandia 63
RU - Federazione Russa 54
GB - Regno Unito 50
IN - India 38
BE - Belgio 19
CA - Canada 19
TR - Turchia 18
HK - Hong Kong 15
NL - Olanda 13
CI - Costa d'Avorio 11
CZ - Repubblica Ceca 11
IR - Iran 11
ES - Italia 10
LT - Lituania 8
JP - Giappone 6
AT - Austria 5
BR - Brasile 5
KR - Corea 5
CH - Svizzera 4
GR - Grecia 4
IL - Israele 4
AU - Australia 3
RO - Romania 3
SA - Arabia Saudita 3
BG - Bulgaria 2
CO - Colombia 2
EC - Ecuador 2
EU - Europa 2
HU - Ungheria 2
MU - Mauritius 2
MX - Messico 2
PL - Polonia 2
TH - Thailandia 2
A2 - ???statistics.table.value.countryCode.A2??? 1
CY - Cipro 1
EE - Estonia 1
HR - Croazia 1
IM - Isola di Man 1
LY - Libia 1
MA - Marocco 1
MN - Mongolia 1
MY - Malesia 1
UZ - Uzbekistan 1
ZA - Sudafrica 1
Totale 3.978
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Città #
Chandler 413
Singapore 183
Ashburn 169
Dublin 114
Rome 108
New York 88
Jakarta 80
San Mateo 67
Jacksonville 52
Milan 52
Boston 42
Marseille 40
Nanjing 39
Princeton 38
Moscow 35
Beijing 32
Helsinki 32
Boardman 30
Nürnberg 30
Los Angeles 29
Wilmington 29
Bremen 27
Dearborn 27
Munich 25
Woodbridge 24
Houston 21
Redwood City 21
Ann Arbor 19
Brussels 19
Pune 17
Nanchang 16
Seattle 13
Fairfield 12
Hong Kong 12
Redmond 12
Abidjan 11
Espoo 11
Izmir 11
Lawrence 11
Busto Arsizio 10
Toronto 10
Brno 9
Norwalk 9
Cattolica 8
Kish 8
Hebei 7
Kunming 7
Leawood 7
Lancaster 6
Mountain View 6
Shenyang 6
Utica 6
Amsterdam 5
Andover 5
Barcelona 5
Frankfurt am Main 5
Grand Rapids 5
Jiaxing 5
Lappeenranta 5
Naples 5
Nuremberg 5
Ottawa 5
Shanghai 5
Tokyo 5
Vienna 5
Augusta 4
Chicago 4
Edinburgh 4
Forlì 4
London 4
Santa Clara 4
São Paulo 4
University Park 4
Athens 3
Bern 3
Cambridge 3
Flero 3
Florence 3
Hangzhou 3
Jinan 3
Monza 3
Paris 3
Potenza 3
Seoul 3
Thatcham 3
Tianjin 3
Venice 3
Acton 2
Aiello del Sabato 2
Auburn Hills 2
Bergamo 2
Bogotá 2
Bologna 2
Boydton 2
Bucharest 2
Cagliari 2
Castel di Sangro 2
Changsha 2
Cologno Monzese 2
Cornate d'Adda 2
Totale 2.275
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Nome #
Enhanced human brain associative plasticity in Costello syndrome 194
Increased sleep spindle activity in patients with Costello syndrome (HRAS gene mutation) 136
Upper airway surgery of obstructive sleep apnea in pycnodysostosis: case report and literature review 128
Increased sleep spindle activity in patients with Costello syndrome (HRAS gene mutation) 121
Pycnodysostosis with extreme sleep apnea: a possible alternative to tracheotomy 115
Decreased bone mineral density in Costello syndrome 103
Long Term Memory Profile of Disorders Associated with Dysregulation of the RAS-MAPK Signaling Cascade. 102
Dystonia in Costello syndrome 97
INCREASED LEVELS OF GLIAL CELL-DERIVED NEUROTROPHIC FACTOR IN CSF OF INFANTS WITH SMA 96
HYPOVENTILATION IN REM SLEEP IN A CASE OF 17p11.2 DELETION (SMITH-MAGENIS SYNDROME) 94
Embryopathy Following Maternal Biliopancreatic Diversion: Is Bariatric Surgery Really Safe? 81
Intestinal Permeability in Children with Functional Gastrointestinal Disorders: The Effects of Diet 78
Characterization of bone homeostasis in individuals affected by cardio-facio-cutaneous syndrome 77
Metabolic profiling of Costello syndrome: insights from a single-center cohort 77
Wolf-Hirschhorn syndrome with improvement of renal function 72
Enlarged spinal nerve roots in RASopathies: report of two cases 71
Drooling outcome measures in paediatric disability: a systematic review 71
Melanocytic nevi in RASopathies: insights on dermatological diagnostic handles 68
CRANIOSYNOSTOSIS IN PATIENTS WITH NOONAN SYNDROME CAUSED BY GERMLINE KRAS MUTATIONS 67
Genotype-cardiac phenotype correlations in a large single-center cohort of patients affected by Rasopathies: clinical implications and literature review 67
Bone tissue homeostasis and risk of fractures in Costello syndrome: a four-year follow-up study 65
Respiratory and gastrointestinal dysfunctions associated with auriculo-condylar syndrome and a homozygous PLCB4 loss-of-function mutation 62
Congenital immunodeficiency in an individual with Wiedemann–Steiner syndrome due to a novel missense mutation in KMT2A 60
Oligonephronia and Wolf-Hirschhorn syndrome: A further observation 59
Prevalence of bladder cancer in Costello syndrome: New insights to drive clinical decision-making 59
Musculo‑skeletal phenotype of Costello syndrome and cardio‑facio‑cutaneous syndrome: insights on the functional assessment status. 58
Differential Effects of HRAS Mutation on LTP-Like Activity Induced by Different Protocols of Repetitive Transcranial Magnetic Stimulation 55
Broadening the phenotypic spectrum of Beta3GalT6-associated phenotype 55
Body mass index in type 2 spinal muscular atrophy: a longitudinal study 54
Pain in individuals with RASopathies: Prevalence and clinical characterization in a sample of 80 affected patients 54
Biallelic TRNT1 variants in a child with B cell immunodeficiency, periodic fever and developmental delay without sideroblastic anemia (SIFD variant) 54
Validation and cross-cultural adaptation of the Italian version of the Pediatric Eating Assessment Tool (I-PEDI-EAT-10) in genetic syndromes 53
Body mass index in type 2 spinal muscular atrophy: a longitudinal study 53
Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay 51
One case of anetoderma post-vitamin K1 injection in a newborn 51
Smith–Magenis syndrome: Report of morphological and new functional cardiac findings with review of the literature 51
Epilepsy and BRAF mutations: Phenotypes, natural history and genotype-phenotype correlations 51
Understanding Growth Failure in Costello Syndrome: Increased Resting Energy Expenditure 49
Basedow-Graves’ disease in a pediatric patient with Sticlker syndrome, a new endocrine finding to improve personalized treatment 47
Visual function and ophthalmological findings in CHARGE syndrome: Revision of literature, definition of a new clinical spectrum and genotype phenotype correlation 47
Treatment of dystonia using trihexyphenidyl in costello syndrome 46
Dermatoscopic and confocal microscopy features of widespread inflammatory linear verrucous epidermal nevus 45
What to expect of feeding abilities and nutritional aspects in achondroplasia patients: a narrative review 44
The impact of blenderized tube feeding on gastrointestinal symptoms, a scoping review 43
Old treatments for new genetic conditions: Sirolimus therapy in a child affected by mosaic overgrowth with fibroadipose hyperplasia. 41
Efficacy and safety of growth hormone therapy in children with Noonan syndrome 40
Cantú syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants 40
From feeding challenges to oral-motor dyspraxia: a comprehensive description of 10 new cases with CTNNB1 syndrome. 38
Rare and de novo coding variants in chromodomain genes in Chiari I malformation 38
Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome 37
Psychopathological features in Noonan syndrome 36
Management of nutritional and gastrointestinal issues in RASopathies: a narrative review 36
Impact of Costello syndrome on growth patterns 32
A multi-step approach to overcome challenges in the management of head and neck lymphatic malformations, and response to treatment 31
The "FEEDS (FEeding Eating Deglutition Skills)" over Time Study in Cardiofaciocutaneous Syndrome 31
Pulmonary artery sling in a 22-month-old boy with 18q deletion syndrome: A rare but possible association 29
P.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas 29
Mutations impairing GSK3-mediated MAF phosphorylation cause cataract, deafness, intellectual disability, seizures, and a down syndrome-like facies 27
Phosphatase and tensin homolog (PTEN) variants and epilepsy: A multicenter case series 26
Cross-cultural adaptation and validation of the Italian version of the Montreal Children's Hospital Feeding Scale in a special healthcare needs population 24
Skeletal abnormalities are common features in Aymé-Gripp syndrome 24
Cross‐cultural adaptation and validation of the Italian version of the Montreal Children's Hospital Feeding Scale in a special healthcare needs population 23
How pain affect real life of children and adults with achondroplasia: A systematic review 22
The dark side of COVID-19: The need of integrated medicine for children with special care needs 22
Aberrant N-myristoylation as a prelude to autoimmune manifestations in patients with SHOC2 mutations 21
How pain affect real life of children and adults with achondroplasia: a systematic review 20
First evidence of a therapeutic effect of miransertib in a teenager with Proteus syndrome and ovarian carcinoma 20
Ligamentous laxity in children with achondroplasia: prevalence, joint involvement, and implications for early intervention strategies 19
Metabolic profile of patients with Smith-Magenis syndrome: an observational study with literature review 19
Personalized treatment in a boy with NF1 and inoperable plexiform orbital neurofibroma 19
Validation and cross-cultural adaptation of the Italian version of the Pediatric Eating Assessment Tool (I-PEDI-EAT-10) in genetic syndromes 18
Can the CHOP-INTEND be used as An Outcome Measure in the First Months of Age? Implications for Clinical Trials and Real World Data 18
Predicting the clinical trajectory of feeding and swallowing abilities in CHARGE syndrome 17
Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype 17
Predicting the clinical trajectory of feeding and swallowing abilities in CHARGE syndrome 16
Giant subcortical heterotopia involving the temporo-parieto-occipital region: a challenging cause of drug-resistant epilepsy 13
Trisomy 22 mosaicism from prenatal to postnatal findings: a case series and systematic review of the literature 11
RASopathies and sigmoid-shaped ventricular septum morphology: evidence of a previously unappreciated cardiac phenotype 10
Clarifying main nutritional aspects and resting energy expenditure in children with Smith-Magenis syndrome 9
Feeding and nutritional key features of Crisponi/cold-induced sweating syndrome 9
Nasal polyposis in pediatric patients with Cornelia de Lange syndrome: endoscopic diagnosis, treatment and follow up in two case reports 6
Smith Magenis syndrome: First case of congenital heart defect in a patient with Rai1 mutation 4
Totale 4.073
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Categoria #
all - tutte 22.722
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 22.722
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020171 0 0 0 0 23 26 30 13 21 13 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
2024/2025501 44 43 169 114 131 0 0 0 0 0 0 0
Totale 4.073