IRIS PubliCatt

Zampino, Giuseppe
 Distribuzione geografica
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Continente #
NA - Nord America 4.794
EU - Europa 4.414
AS - Asia 1.699
AF - Africa 27
SA - Sud America 22
OC - Oceania 12
Continente sconosciuto - Info sul continente non disponibili 5
Totale 10.973
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Nazione #
US - Stati Uniti d'America 4.753
DE - Germania 1.233
SE - Svezia 1.017
CN - Cina 703
IT - Italia 543
SG - Singapore 535
UA - Ucraina 492
IE - Irlanda 307
FR - Francia 205
ID - Indonesia 193
FI - Finlandia 144
GB - Regno Unito 133
RU - Federazione Russa 121
IN - India 116
TR - Turchia 48
BE - Belgio 47
NL - Olanda 35
AT - Austria 33
CA - Canada 33
HK - Hong Kong 25
PL - Polonia 25
JP - Giappone 24
IR - Iran 23
BR - Brasile 17
CI - Costa d'Avorio 16
ES - Italia 16
CZ - Repubblica Ceca 14
AU - Australia 11
LT - Lituania 7
MX - Messico 7
RO - Romania 7
CH - Svizzera 6
KR - Corea 6
VN - Vietnam 6
GR - Grecia 5
HU - Ungheria 5
IL - Israele 4
KZ - Kazakistan 4
BG - Bulgaria 3
DK - Danimarca 3
NO - Norvegia 3
SA - Arabia Saudita 3
A2 - ???statistics.table.value.countryCode.A2??? 2
CM - Camerun 2
CO - Colombia 2
CY - Cipro 2
EC - Ecuador 2
EE - Estonia 2
EU - Europa 2
HR - Croazia 2
KE - Kenya 2
LU - Lussemburgo 2
MA - Marocco 2
MN - Mongolia 2
MU - Mauritius 2
TH - Thailandia 2
A1 - Anonimo 1
BZ - Belize 1
EG - Egitto 1
IM - Isola di Man 1
IQ - Iraq 1
LV - Lettonia 1
LY - Libia 1
NZ - Nuova Zelanda 1
PE - Perù 1
PH - Filippine 1
RS - Serbia 1
SK - Slovacchia (Repubblica Slovacca) 1
UZ - Uzbekistan 1
ZA - Sudafrica 1
Totale 10.973
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Città #
Chandler 1.114
Singapore 418
Ashburn 341
Dublin 298
Jacksonville 297
San Mateo 233
Jakarta 192
Nanjing 183
New York 176
Ann Arbor 156
Rome 134
Dearborn 132
Woodbridge 129
Boston 125
Wilmington 114
Moscow 90
Milan 89
Houston 83
Beijing 79
Princeton 79
Lawrence 78
Redwood City 76
Marseille 75
Munich 72
Nanchang 72
Boardman 59
Nürnberg 54
Bremen 51
Cattolica 51
Seattle 48
Los Angeles 46
Brussels 43
Helsinki 41
Izmir 36
Fairfield 35
Vienna 33
Hebei 32
Pune 29
Shenyang 29
Lancaster 28
Norwalk 28
Redmond 27
Tianjin 27
Kunming 25
Jiaxing 24
Andover 22
Kraków 22
Mountain View 22
University Park 22
Augusta 20
Changsha 20
Hong Kong 20
Chicago 18
Shanghai 17
Abidjan 16
Hangzhou 16
Leawood 16
Auburn Hills 15
Kish 13
Toronto 13
Cambridge 12
Hefei 12
Simi Valley 12
Espoo 11
Zhengzhou 11
Brno 10
Busto Arsizio 10
Guangzhou 10
Jinan 10
Amsterdam 9
Frankfurt am Main 9
London 9
Ottawa 9
Fremont 8
Ningbo 8
Edinburgh 7
Paris 7
Trieste 7
Falls Church 6
Groningen 6
Gunzenhausen 6
Hanoi 6
Mumbai 6
Nashville 6
Phoenix 6
Saint Petersburg 6
Santa Clara 6
Southwark 6
Utica 6
Ardabil 5
Barcelona 5
Berlin 5
Bologna 5
Florence 5
Forlì 5
Grand Rapids 5
Naples 5
Nuremberg 5
Rio de Janeiro 5
Sydney 5
Totale 6.145
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Nome #
Enhanced human brain associative plasticity in Costello syndrome 194
Cerebro-facio-articular syndrome of Van Maldergem: confirmation of a new MR/MCA syndrome 151
Increased sleep spindle activity in patients with Costello syndrome (HRAS gene mutation) 136
OBSTRUCTIVE SLEEP APNEA IN COSTELLO SYNDROME 132
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
Functional Assessment of A delta anc C fibers in patients with Fabry's disease 121
Neurofibromatosis Type 1 Associated with Vertebrobasilar Dolichoectasia and Pontine Ischemic Stroke 120
OCULAR MANIFESTATIONS IN WOLF-HIRSCHHORN SYNDROME 116
Pycnodysostosis with extreme sleep apnea: a possible alternative to tracheotomy 115
Costello syndrome: Analysis of the posterior cranial fossa in children with posterior fossa crowding 110
A newborn with multiple fractures as first presentation of infantile myofibromatosis 107
Decreased bone mineral density in Costello syndrome 104
Long Term Memory Profile of Disorders Associated with Dysregulation of the RAS-MAPK Signaling Cascade. 103
Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16 102
Constitutional trisomy 8 and myelodysplasia: report of a case and review of the literature 101
Epidemiology and genetics of microtia-anotia: a registry based study on over one million births 101
Visual processing in Noonan syndrome: dorsal and ventral stream sensitivity 98
Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients 98
Corneal alterations in Crisponi/CISS1 syndrome: A slit-lamp biomicroscopy and in vivo confocal microscopy corneal report 98
Central apneas in a case of Crisponi syndrome 97
Dystonia in Costello syndrome 97
Isolated myocardial non-compaction in an infant with distal 4q trisomy and distal 1q monosomy 96
HYPOVENTILATION IN REM SLEEP IN A CASE OF 17p11.2 DELETION (SMITH-MAGENIS SYNDROME) 94
Muenke syndrome 94
RHYTHMIC TONGUE MOVEMENTS DURING SLEEP: A PECULIAR PARASOMIA IN COSTELLO SYNDROME 94
Significant modifications of the salivary proteome potentially associated with complications of Down syndrome revealed by top-down proteomics 94
Opitz C trigonocephaly syndrome and midline brain anomalies 92
*The tongue base suspension using Repose bone screw system in child with Simpson-Golabi-Behmel syndrome. Case report 90
Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome 90
Trismus-pseudocamptodactyly syndrome: case report ten years after 89
Editorial: Care of adults with Down syndrome: Gaps and needs 88
Malignant hypertension and cerebral haemorrage in Seckel Syndrome 87
Visual processing in Noonan syndrome: dorsal and ventral stream sensitivity 86
Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome 86
Costello syndrome: further clinical delineation, natural history, genetic definition, and nosology 84
Management of children with thrombocytopenia-absent radius syndrome: an institutional experience 83
Growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia: confirmation of the ROCA-Wiedemann syndrome 82
Diversity parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome 82
-Electroclinical patterns and evolution of epilepsy in the 4p- syndrome 82
Embryopathy Following Maternal Biliopancreatic Diversion: Is Bariatric Surgery Really Safe? 82
Teratogenic effects of antiepileptic drugs: use of an International Database on malformations and drug exposure (MADRE) 81
Improvement of obstructive sleep apneas caused by hydrocephalus associated with Chiari malformation Type II following surgery. 80
Behavioral profile in RASopathies 80
A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome 79
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy 79
Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome 78
Irregular extensive Mongolian blue spots as a clue of GM1 gangliosidosis type 1 78
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
A RESTRICTED SPECTRUM OF NRAS MUTATION CAUSES NOONAN SYNDROME 76
Contactless: a new personalised telehealth model in chronic pediatric diseases and disability during the COVID-19 era 76
-Exclusion of the elastin gene in the pathogenesis of Costello syndrome 75
Extensive irregular Mongolian blue spots as a clue for GM1 gangliosidosis type 1. 74
Children with special health care needs attending emergency department in Italy: analysis of 3479 cases 74
On the symmetry of limb deficiences among children with multiple congenital anomalies 73
New XLMR syndrome with characteristic face, hypogenitalism, congenital hypotonia and pachygyria 73
Wolf-Hirschhorn syndrome with improvement of renal function 72
Noonan syndrome: clinical aspects and molecular pathogenesis. 71
Limb defects associated with major congenital anomalies: clinical and epidemiological study from the International Clearinghouse for Birth Defects Monitoring Systems 71
Safety of antithrombotic therapy in subjects with hereditary hemorrhagic telangiectasia: prospective data from a multidisciplinary working group 71
Melanocytic nevi in RASopathies: insights on dermatological diagnostic handles 71
Enlarged spinal nerve roots in RASopathies: report of two cases 71
Drooling outcome measures in paediatric disability: a systematic review 71
Children's healthcare during corona virus disease 19 pandemic: The Italian experience 69
Variability of the Brachmann-de Lange syndrome 68
SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations. 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
[Wolfram syndrome. Personal experience] 66
Bone tissue homeostasis and risk of fractures in Costello syndrome: a four-year follow-up study 66
Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders. 65
Severe form of Freeman-Sheldon syndrome associated with brain anomalies and hearing loss 65
Growth hormone therapy in a child with fetal alcohol syndrome: personal experience with literature review. 63
GAIN-OF-FUNCTION SOS1 MUTATIONS CAUSE A DISTINCTIVE FORM OF NOONAN SYNDROME. 62
Transcriptional hallmarks of Noonan syndrome and Noonan-like syndrome with loose anagen hair 62
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome 62
Recognizable facial features in patients with alternating hemiplegia of childhood. 62
Respiratory and gastrointestinal dysfunctions associated with auriculo-condylar syndrome and a homozygous PLCB4 loss-of-function mutation 62
Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype -phenotype correlations. 61
Congenital immunodeficiency in an individual with Wiedemann–Steiner syndrome due to a novel missense mutation in KMT2A 61
[The incidence and prevalence of malformation syndromes] 59
Oligonephronia and Wolf-Hirschhorn syndrome: A further observation 59
Ausgedehnte, unregelmäßige Mongolenflecken als Hinweis auf GM1‐Gangliosidose Typ 1 59
Prevalence of bladder cancer in Costello syndrome: New insights to drive clinical decision-making 59
Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients 58
MUTATION OF SHOC2 PROMOTES ABERRANT PROTEIN N-MYRISTOYLATION AND CAUSES NOONAN-LIKE SUNDROME WITH LOOSE ANAGEN HAIR. 58
Musculo‑skeletal phenotype of Costello syndrome and cardio‑facio‑cutaneous syndrome: insights on the functional assessment status. 58
Visual perception skills: a comparison between patients with Noonan syndrome and 22q11.2 deletion syndrome 57
Post-COVID Condition in Adults and Children Living in the Same Household in Italy: A Prospective Cohort Study Using the ISARIC Global Follow-Up Protocol 57
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. 56
Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype. 56
Short- and mid-term multidisciplinary outcomes of newborns exposed to SARS-CoV-2 in utero or during the perinatal period: preliminary findings 56
Antiepileptic drug therapy and congenital defects 55
Differential Effects of HRAS Mutation on LTP-Like Activity Induced by Different Protocols of Repetitive Transcranial Magnetic Stimulation 55
Children's Healthcare During Corona Virus Disease 19 Pandemic: the Italian Experience 55
Broadening the phenotypic spectrum of Beta3GalT6-associated phenotype 55
Two case reports of fetal alcohol syndrome: broadening into the spectrum of cardiac disease to personalize and to improve clinical assessment 54
Pain in individuals with RASopathies: Prevalence and clinical characterization in a sample of 80 affected patients 54
Totale 8.147
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Categoria #
all - tutte 56.420
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 56.420
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020761 0 0 0 0 109 151 108 28 84 31 151 99
2020/2021925 29 91 19 94 116 33 170 33 137 21 166 16
2021/20221.370 61 105 22 143 70 25 33 225 47 78 252 309
2022/20233.103 404 411 226 447 203 398 125 268 376 63 125 57
2023/20241.671 71 443 39 117 69 259 88 56 41 67 184 237
2024/2025917 74 100 323 171 249 0 0 0 0 0 0 0
Totale 11.156