IRIS PubliCatt

Zampino, Giuseppe
 Distribuzione geografica
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Continente #
NA - Nord America 4.738
EU - Europa 4.283
AS - Asia 1.449
AF - Africa 27
SA - Sud America 22
OC - Oceania 11
Continente sconosciuto - Info sul continente non disponibili 5
Totale 10.535
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Nazione #
US - Stati Uniti d'America 4.713
DE - Germania 1.215
SE - Svezia 1.017
CN - Cina 668
UA - Ucraina 492
IT - Italia 488
SG - Singapore 326
IE - Irlanda 307
FR - Francia 201
ID - Indonesia 193
FI - Finlandia 127
GB - Regno Unito 124
RU - Federazione Russa 118
IN - India 115
TR - Turchia 47
BE - Belgio 41
AT - Austria 31
NL - Olanda 27
HK - Hong Kong 25
PL - Polonia 25
JP - Giappone 24
IR - Iran 22
BR - Brasile 17
CA - Canada 17
CI - Costa d'Avorio 16
ES - Italia 15
CZ - Repubblica Ceca 14
AU - Australia 10
MX - Messico 7
RO - Romania 7
CH - Svizzera 6
KR - Corea 6
VN - Vietnam 6
GR - Grecia 5
HU - Ungheria 4
BG - Bulgaria 3
DK - Danimarca 3
IL - Israele 3
KZ - Kazakistan 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
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
TH - Thailandia 1
UZ - Uzbekistan 1
ZA - Sudafrica 1
Totale 10.535
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Città #
Chandler 1.114
Ashburn 340
Dublin 298
Jacksonville 297
San Mateo 233
Singapore 217
Jakarta 192
Nanjing 183
New York 176
Ann Arbor 156
Dearborn 132
Woodbridge 129
Boston 125
Rome 118
Wilmington 114
Moscow 88
Houston 83
Milan 82
Princeton 79
Lawrence 78
Beijing 77
Redwood City 76
Marseille 75
Nanchang 72
Munich 62
Boardman 59
Nürnberg 54
Bremen 51
Cattolica 51
Seattle 48
Los Angeles 44
Brussels 37
Izmir 36
Fairfield 35
Helsinki 35
Hebei 32
Vienna 31
Pune 29
Lancaster 28
Norwalk 28
Shenyang 28
Redmond 27
Tianjin 27
Jiaxing 24
Kunming 24
Andover 22
Kraków 22
Mountain View 22
University Park 22
Augusta 20
Changsha 20
Hong Kong 20
Chicago 18
Abidjan 16
Leawood 16
Auburn Hills 15
Hangzhou 15
Shanghai 15
Kish 13
Cambridge 12
Simi Valley 12
Hefei 11
Brno 10
Busto Arsizio 10
Guangzhou 10
Jinan 10
Zhengzhou 10
Fremont 8
Edinburgh 7
Ningbo 7
Trieste 7
Falls Church 6
Groningen 6
Gunzenhausen 6
Hanoi 6
Mumbai 6
Nashville 6
Phoenix 6
Saint Petersburg 6
Southwark 6
Utica 6
Amsterdam 5
Ardabil 5
Barcelona 5
Berlin 5
Grand Rapids 5
London 5
Nuremberg 5
Rio de Janeiro 5
Tokyo 5
Washington 5
Bern 4
Bucharest 4
Budapest 4
Clearwater 4
Costa Mesa 4
Forlì 4
Frankfurt am Main 4
Fuzhou 4
Genoa 4
Totale 5.840
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Nome #
Enhanced human brain associative plasticity in Costello syndrome 192
Cerebro-facio-articular syndrome of Van Maldergem: confirmation of a new MR/MCA syndrome 147
Increased sleep spindle activity in patients with Costello syndrome (HRAS gene mutation) 133
OBSTRUCTIVE SLEEP APNEA IN COSTELLO SYNDROME 130
Upper airway surgery of obstructive sleep apnea in pycnodysostosis: case report and literature review 127
Neurofibromatosis Type 1 Associated with Vertebrobasilar Dolichoectasia and Pontine Ischemic Stroke 118
Functional Assessment of A delta anc C fibers in patients with Fabry's disease 116
OCULAR MANIFESTATIONS IN WOLF-HIRSCHHORN SYNDROME 114
Increased sleep spindle activity in patients with Costello syndrome (HRAS gene mutation) 113
Pycnodysostosis with extreme sleep apnea: a possible alternative to tracheotomy 111
Costello syndrome: Analysis of the posterior cranial fossa in children with posterior fossa crowding 109
A newborn with multiple fractures as first presentation of infantile myofibromatosis 105
Decreased bone mineral density in Costello syndrome 101
Long Term Memory Profile of Disorders Associated with Dysregulation of the RAS-MAPK Signaling Cascade. 100
Constitutional trisomy 8 and myelodysplasia: report of a case and review of the literature 100
Epidemiology and genetics of microtia-anotia: a registry based study on over one million births 100
Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16 99
Visual processing in Noonan syndrome: dorsal and ventral stream sensitivity 97
Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients 96
Central apneas in a case of Crisponi syndrome 95
Dystonia in Costello syndrome 95
Isolated myocardial non-compaction in an infant with distal 4q trisomy and distal 1q monosomy 94
Corneal alterations in Crisponi/CISS1 syndrome: A slit-lamp biomicroscopy and in vivo confocal microscopy corneal report 94
HYPOVENTILATION IN REM SLEEP IN A CASE OF 17p11.2 DELETION (SMITH-MAGENIS SYNDROME) 92
Muenke syndrome 91
RHYTHMIC TONGUE MOVEMENTS DURING SLEEP: A PECULIAR PARASOMIA IN COSTELLO SYNDROME 91
*The tongue base suspension using Repose bone screw system in child with Simpson-Golabi-Behmel syndrome. Case report 90
Opitz C trigonocephaly syndrome and midline brain anomalies 90
Significant modifications of the salivary proteome potentially associated with complications of Down syndrome revealed by top-down proteomics 90
Trismus-pseudocamptodactyly syndrome: case report ten years after 89
Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome 88
Visual processing in Noonan syndrome: dorsal and ventral stream sensitivity 84
Malignant hypertension and cerebral haemorrage in Seckel Syndrome 83
Costello syndrome: further clinical delineation, natural history, genetic definition, and nosology 83
Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome 83
Growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia: confirmation of the ROCA-Wiedemann syndrome 81
Management of children with thrombocytopenia-absent radius syndrome: an institutional experience 81
Teratogenic effects of antiepileptic drugs: use of an International Database on malformations and drug exposure (MADRE) 80
Improvement of obstructive sleep apneas caused by hydrocephalus associated with Chiari malformation Type II following surgery. 80
Diversity parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome 80
-Electroclinical patterns and evolution of epilepsy in the 4p- syndrome 80
Editorial: Care of adults with Down syndrome: Gaps and needs 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
Embryopathy Following Maternal Biliopancreatic Diversion: Is Bariatric Surgery Really Safe? 79
Behavioral profile in RASopathies 78
Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome 76
Irregular extensive Mongolian blue spots as a clue of GM1 gangliosidosis type 1 76
Characterization of bone homeostasis in individuals affected by cardio-facio-cutaneous syndrome 75
Metabolic profiling of Costello syndrome: insights from a single-center cohort 75
A RESTRICTED SPECTRUM OF NRAS MUTATION CAUSES NOONAN SYNDROME 74
-Exclusion of the elastin gene in the pathogenesis of Costello syndrome 73
Children with special health care needs attending emergency department in Italy: analysis of 3479 cases 73
On the symmetry of limb deficiences among children with multiple congenital anomalies 72
New XLMR syndrome with characteristic face, hypogenitalism, congenital hypotonia and pachygyria 72
Contactless: a new personalised telehealth model in chronic pediatric diseases and disability during the COVID-19 era 72
Noonan syndrome: clinical aspects and molecular pathogenesis. 70
Wolf-Hirschhorn syndrome with improvement of renal function 70
Limb defects associated with major congenital anomalies: clinical and epidemiological study from the International Clearinghouse for Birth Defects Monitoring Systems 70
Intestinal Permeability in Children with Functional Gastrointestinal Disorders: The Effects of Diet 70
Extensive irregular Mongolian blue spots as a clue for GM1 gangliosidosis type 1. 69
Children's healthcare during corona virus disease 19 pandemic: The Italian experience 69
Safety of antithrombotic therapy in subjects with hereditary hemorrhagic telangiectasia: prospective data from a multidisciplinary working group 68
Melanocytic nevi in RASopathies: insights on dermatological diagnostic handles 68
CRANIOSYNOSTOSIS IN PATIENTS WITH NOONAN SYNDROME CAUSED BY GERMLINE KRAS MUTATIONS 67
Enlarged spinal nerve roots in RASopathies: report of two cases 67
SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations. 66
Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders. 65
[Wolfram syndrome. Personal experience] 65
Severe form of Freeman-Sheldon syndrome associated with brain anomalies and hearing loss 64
Bone tissue homeostasis and risk of fractures in Costello syndrome: a four-year follow-up study 64
Variability of the Brachmann-de Lange syndrome 63
Genotype-cardiac phenotype correlations in a large single-center cohort of patients affected by Rasopathies: clinical implications and literature review 63
GAIN-OF-FUNCTION SOS1 MUTATIONS CAUSE A DISTINCTIVE FORM OF NOONAN SYNDROME. 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. 61
Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype -phenotype correlations. 60
Respiratory and gastrointestinal dysfunctions associated with auriculo-condylar syndrome and a homozygous PLCB4 loss-of-function mutation 60
Transcriptional hallmarks of Noonan syndrome and Noonan-like syndrome with loose anagen hair 59
Congenital immunodeficiency in an individual with Wiedemann–Steiner syndrome due to a novel missense mutation in KMT2A 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
[The incidence and prevalence of malformation syndromes] 57
Ausgedehnte, unregelmäßige Mongolenflecken als Hinweis auf GM1‐Gangliosidose Typ 1 57
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. 56
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 56
Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype. 55
Antiepileptic drug therapy and congenital defects 54
Oligonephronia and Wolf-Hirschhorn syndrome: A further observation 54
Visual perception skills: a comparison between patients with Noonan syndrome and 22q11.2 deletion syndrome 54
Children's Healthcare During Corona Virus Disease 19 Pandemic: the Italian Experience 54
Prevalence of bladder cancer in Costello syndrome: New insights to drive clinical decision-making 54
Short- and mid-term multidisciplinary outcomes of newborns exposed to SARS-CoV-2 in utero or during the perinatal period: preliminary findings 54
Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth 53
Biallelic TRNT1 variants in a child with B cell immunodeficiency, periodic fever and developmental delay without sideroblastic anemia (SIFD variant) 53
Needs and challenges of daily life for people with Down syndrome residing in the city of Rome, Italy 52
Differential Effects of HRAS Mutation on LTP-Like Activity Induced by Different Protocols of Repetitive Transcranial Magnetic Stimulation 52
Two case reports of fetal alcohol syndrome: broadening into the spectrum of cardiac disease to personalize and to improve clinical assessment 52
Broadening the phenotypic spectrum of Beta3GalT6-associated phenotype 52
Totale 7.909
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Categoria #
all - tutte 52.061
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 52.061
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020845 0 0 58 26 109 151 108 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
2024/2025476 74 100 302 0 0 0 0 0 0 0 0 0
Totale 10.715