Archivio istituzionale della ricerca dell'Università degli Studi di Palermo

ANTONA, Vincenzo
 Distribuzione geografica
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Continente #
NA - Nord America 2.116
EU - Europa 599
AS - Asia 193
AF - Africa 4
SA - Sud America 4
Continente sconosciuto - Info sul continente non disponibili 1
OC - Oceania 1
Totale 2.918
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Nazione #
US - Stati Uniti d'America 2.108
IT - Italia 335
SG - Singapore 91
CN - Cina 67
GB - Regno Unito 46
DE - Germania 45
IE - Irlanda 34
SE - Svezia 32
FI - Finlandia 26
RO - Romania 18
RU - Federazione Russa 14
IN - India 10
BE - Belgio 9
UA - Ucraina 8
HK - Hong Kong 6
KR - Corea 6
NL - Olanda 6
BG - Bulgaria 5
CA - Canada 5
FR - Francia 4
PK - Pakistan 4
CH - Svizzera 3
ES - Italia 3
TH - Thailandia 3
AR - Argentina 2
CI - Costa d'Avorio 2
CZ - Repubblica Ceca 2
IR - Iran 2
NO - Norvegia 2
PL - Polonia 2
AT - Austria 1
AU - Australia 1
CL - Cile 1
EG - Egitto 1
EU - Europa 1
GH - Ghana 1
GL - Groenlandia 1
GR - Grecia 1
HR - Croazia 1
HU - Ungheria 1
JP - Giappone 1
LB - Libano 1
LT - Lituania 1
MN - Mongolia 1
MX - Messico 1
PE - Perù 1
PH - Filippine 1
PR - Porto Rico 1
Totale 2.918
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Città #
Fairfield 301
Ashburn 248
Chandler 234
Woodbridge 166
Houston 146
Seattle 143
Wilmington 119
Cambridge 112
Ann Arbor 92
Palermo 87
Singapore 77
Medford 47
Des Moines 42
Altamura 36
Dublin 30
Princeton 30
Lawrence 27
San Diego 27
London 22
Milan 17
New York 17
Ludwigshafen am Rhein 16
Chicago 15
Munich 13
Nanjing 13
Santa Clara 13
Helsinki 11
Boardman 10
Falls Church 10
Brussels 9
Columbus 8
Dearborn 8
Jinan 7
Guangzhou 6
Hebei 6
San Paolo di Civitate 6
Seoul 6
Jiaxing 5
Kilburn 5
Pune 5
Rome 5
Sofia 5
Tianjin 5
Beijing 4
Bremen 4
Central 4
Jacksonville 4
Los Angeles 4
Ningbo 4
Trapani 4
Washington 4
Angri 3
Council Bluffs 3
Menlo Park 3
Minneapolis 3
Mumbai 3
Naples 3
Phoenix 3
Salemi 3
Santa Marinella 3
Sassari 3
Taizhou 3
Taranto 3
Telde 3
Venice 3
Zhengzhou 3
Abidjan 2
Acton 2
Bangkok 2
Bari 2
Cagliari 2
Castrolibero 2
Catania 2
Cedar Knolls 2
Changsha 2
Ephrata 2
Frankfurt am Main 2
Fremont 2
Haikou 2
Hong Kong 2
Islamabad 2
Lappeenranta 2
Mazara del Vallo 2
Mistretta 2
Napoli 2
Olomouc 2
Oslo 2
Ottawa 2
Owings Mills 2
Pavia 2
Pozzuoli 2
Randazzo 2
Ravanusa 2
Rawalpindi 2
Redmond 2
Redwood City 2
Saint Petersburg 2
Sant'Agata di Militello 2
Tehran 2
Toronto 2
Totale 2.352
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Nome #
Autosomal recessive polycystic kidney disease: case report of a newborn with rare PKHD1 mutation, rapid renal enlargement and early fatal outcome 220
Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: Case report of an Italian patient 209
Clinical and molecular characterization of 112 single-center patients with Neurofibromatosis type 1 205
NF1 microdeletion syndrome: Case report of two new patients 145
Intellectual disabilitiy in developmental age 136
Etiological heterogeneity and clinical variability in newborns with esophageal atresia 133
Variable phenotype in 17q12 microdeletions: Clinical and molecular characterization of a new case 128
A novel mutation of WDR62 gene associated with severe phenotype including infantile spasm, microcephaly, and intellectual disability. 120
A novel cct5 missense variant associated with early onset motor neuropathy 120
INTELLECTUAL DISABILITY, EPILEPSY AND MILD DYSMORPHISMS DUE 22q11.2 DISTAL DUPLICATION: CLINICAL AND MOLECULAR CHARACTERIZATION OF A 0.5 Mb MINIMAL CRITICAL REGION 119
Electroclinical features and outcome of ANKRD11-related KBG syndrome: A novel report and literature review 106
Recognizable neonatal clinical features of aplasia cutis congenita 100
Neonatal hyperinsulinemic hypoglycemia: Case report of kabuki syndrome due to a novel KMT2D splicing-site mutation 99
Muscle Histopathological Abnormalities in a Patient With a CCT5 Mutation Predicted to Affect the Apical Domain of the Chaperonin Subunit 98
Novel missense mutation of the TP63 gene in a newborn with Hay-Wells/Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome: clinical report and follow-up 86
Total colonic aganglionosis and cleft palate in a newborn with Janus-cysteine 618 mutation of RET proto-oncogene: A case report 79
LARGE FOR GESTATIONAL AGE, MACROSOMIA, OVERGROWTH: AN UPDATE ON DEFINITIONS AND DETERMINANTS 77
Array CGH identifies a 823 kb Microduplication at 22q 11.22 encompassing the Rab36 gene in a Child with Autism Spectrum Disorder and Mild Dysmorphism 71
Infant developmental profile of Crisponi syndrome due to compound heterozygosity for CRLF1 deletion 68
The impact of genetic diseases on neonatal and pediatric care 67
The child with overgrowth between clinical variability and genetic heterogeneity 66
WIDENING THE SCOPE OF NEXT GENERATION SEQUENCING APPLICATIONS IN PEDIATRIC MEDICAL GENETICS 57
Clinical and genetic approach in the characterization of newborns with anorectal malformation 56
Jacobsen syndrome and neonatal bleeding: report on two unrelated patients 55
A paradigmatic autistic phenotype associated with loss of PCDH11Y and NLGN4Y genes 47
Hypertrophic pyloric stenosis masked by kidney failure in a male infant with a contiguous gene deletion syndrome at Xp22.31 involving the steroid sulfatase gene: case report 47
La Bioetica sul campo: una sfida per il neonatologo e il pediatra 45
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis 44
Interstitial deletions of chromosome 1p: novel 1p31.3p22.2 microdeletion in a newborn with craniosynostosis, coloboma and cleft palate, and review of the genomic and phenotypic profiles 43
Commonalities and distinctions between two neurodevelopmental disorder subtypes associated with SCN2A and SCN8A variants and literature review 40
Novel SCNN1A gene splicing-site mutation causing autosomal recessive pseudohypoaldosteronism type 1 (PHA1) in two Italian patients belonging to the same small town 38
Follow-Up to Ensure Continuity of Care and Support Preventive Care 36
Distal Arthrogryposis type 5 in an Italian family due to an autosomal dominant gain-of-function mutation of the PIEZO2 gene 34
Quando l’amnios si rompe troppo presto e… da solo 31
New insights on partial trisomy 3q syndrome: de novo 3q27.1-q29 duplication in a newborn with pre and postnatal overgrowth and assisted reproductive conception 30
Congenital hypopituitarism and multiple midline defects in a newborn with non-familial Cat Eye syndrome 26
A novel NF1 mutation in a pediatric patient with renal artery aneurysm 23
Novel de novo missense mutation in the interferon regulatory factor 6 gene in an Italian infant with IRF6-related disorder 20
Intestinal malrotation in a female newborn affected by Osteopathia Striata with Cranial Sclerosis due to a de novo heterozygous nonsense mutation of the AMER1 gene 20
A complex epileptic and dysmorphic phenotype associated with a novel frameshift KDM5B variant and deletion of SCN gene cluster 17
Carnitine palmitoyltransferase II (CPT II) deficiency responsible for refractory cardiac arrhythmias, acute multiorgan failure and early fatal outcome 13
Totale 3.174
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Categoria #
all - tutte 16.157
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 16.157
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020252 0 0 0 0 30 34 24 21 63 19 36 25
2020/2021794 23 21 39 130 181 51 107 54 26 52 69 41
2021/2022514 40 79 15 21 16 31 33 20 59 72 32 96
2022/2023749 91 148 22 77 63 103 40 59 69 18 44 15
2023/2024367 12 47 17 38 28 79 40 25 3 12 20 46
2024/2025211 11 48 52 72 28 0 0 0 0 0 0 0
Totale 3.174