Archivio istituzionale della ricerca dell'Università degli Studi di Palermo

ANTONA, Vincenzo
 Distribuzione geografica
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Continente #
NA - Nord America 3.457
EU - Europa 1.572
AS - Asia 1.459
Continente sconosciuto - Info sul continente non disponibili 284
SA - Sud America 268
AF - Africa 49
OC - Oceania 2
Totale 7.091
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Nazione #
US - Stati Uniti d'America 3.343
SG - Singapore 519
IT - Italia 491
RU - Federazione Russa 483
CN - Cina 280
BR - Brasile 212
HK - Hong Kong 165
BD - Bangladesh 149
VN - Vietnam 138
PL - Polonia 101
DE - Germania 91
GB - Regno Unito 79
FR - Francia 70
CA - Canada 65
FI - Finlandia 58
IE - Irlanda 40
IN - India 40
SE - Svezia 37
JP - Giappone 33
AR - Argentina 22
KR - Corea 22
IQ - Iraq 19
NL - Olanda 19
RO - Romania 19
ZA - Sudafrica 18
MX - Messico 12
PK - Pakistan 12
PT - Portogallo 12
TR - Turchia 12
UA - Ucraina 12
AT - Austria 11
BE - Belgio 10
VE - Venezuela 10
ES - Italia 9
UZ - Uzbekistan 8
CR - Costa Rica 7
JM - Giamaica 7
JO - Giordania 7
EC - Ecuador 6
PE - Perù 6
AE - Emirati Arabi Uniti 5
BG - Bulgaria 5
CO - Colombia 5
HN - Honduras 5
ID - Indonesia 5
KG - Kirghizistan 5
MY - Malesia 5
CH - Svizzera 4
GT - Guatemala 4
KE - Kenya 4
KZ - Kazakistan 4
LT - Lituania 4
MA - Marocco 4
SA - Arabia Saudita 4
CL - Cile 3
ET - Etiopia 3
IR - Iran 3
PH - Filippine 3
PY - Paraguay 3
RS - Serbia 3
TH - Thailandia 3
TN - Tunisia 3
TW - Taiwan 3
AU - Australia 2
AZ - Azerbaigian 2
BH - Bahrain 2
BY - Bielorussia 2
CI - Costa d'Avorio 2
CZ - Repubblica Ceca 2
DO - Repubblica Dominicana 2
DZ - Algeria 2
EG - Egitto 2
GE - Georgia 2
GH - Ghana 2
HR - Croazia 2
HU - Ungheria 2
IL - Israele 2
MD - Moldavia 2
NI - Nicaragua 2
NO - Norvegia 2
NP - Nepal 2
SC - Seychelles 2
SN - Senegal 2
AO - Angola 1
AW - Aruba 1
BZ - Belize 1
CW - ???statistics.table.value.countryCode.CW??? 1
DM - Dominica 1
EU - Europa 1
GD - Grenada 1
GL - Groenlandia 1
GP - Guadalupe 1
GR - Grecia 1
KH - Cambogia 1
LB - Libano 1
LY - Libia 1
MG - Madagascar 1
MN - Mongolia 1
MQ - Martinica 1
NG - Nigeria 1
Totale 6.801
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Città #
Ashburn 489
Singapore 311
Fairfield 301
Chandler 234
San Jose 215
Woodbridge 166
Hong Kong 157
Houston 150
Seattle 149
Wilmington 120
Cambridge 112
Palermo 110
Council Bluffs 103
Ann Arbor 92
Zgierz 84
Moscow 79
Los Angeles 65
Beijing 60
New York 54
Ho Chi Minh City 47
Medford 47
Des Moines 44
Lauterbourg 40
Dallas 38
Altamura 36
Hanoi 35
Chicago 33
Helsinki 33
Tokyo 33
Santa Clara 32
Dublin 31
Princeton 30
Hefei 28
Milan 28
Boardman 27
Lawrence 27
London 27
San Diego 27
The Dalles 27
São Paulo 23
Buffalo 21
Munich 20
Toronto 20
Rome 19
Seoul 16
Ludwigshafen am Rhein 15
Frankfurt am Main 14
Montreal 14
Johannesburg 13
Nanjing 13
Phoenix 13
Warsaw 13
Guangzhou 11
Brussels 10
Falls Church 10
Mumbai 10
Orem 10
Atlanta 9
Da Nang 9
Lappeenranta 9
Nuremberg 9
Columbus 8
Dearborn 8
Denver 8
Jinan 8
Memphis 8
Tianjin 8
Boston 7
Chennai 7
Shanghai 7
Tashkent 7
Amman 6
Brooklyn 6
Catania 6
Hebei 6
Rio de Janeiro 6
San Paolo di Civitate 6
Stockholm 6
Baghdad 5
Bishkek 5
Haiphong 5
Jacksonville 5
Jiaxing 5
Kilburn 5
Naples 5
Ottawa 5
Poplar 5
Porto Alegre 5
Pune 5
San José 5
Sofia 5
Vancouver 5
Vienna 5
Washington 5
Amsterdam 4
Ankara 4
Bari 4
Belo Horizonte 4
Bologna 4
Bremen 4
Totale 4.244
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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 349
Clinical and molecular characterization of 112 single-center patients with Neurofibromatosis type 1 297
A novel cct5 missense variant associated with early onset motor neuropathy 268
Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: Case report of an Italian patient 263
Etiological heterogeneity and clinical variability in newborns with esophageal atresia 239
Intellectual disabilitiy in developmental age 219
A novel mutation of WDR62 gene associated with severe phenotype including infantile spasm, microcephaly, and intellectual disability. 211
NF1 microdeletion syndrome: Case report of two new patients 207
Infant developmental profile of Crisponi syndrome due to compound heterozygosity for CRLF1 deletion 201
Electroclinical features and outcome of ANKRD11-related KBG syndrome: A novel report and literature review 197
INTELLECTUAL DISABILITY, EPILEPSY AND MILD DYSMORPHISMS DUE 22q11.2 DISTAL DUPLICATION: CLINICAL AND MOLECULAR CHARACTERIZATION OF A 0.5 Mb MINIMAL CRITICAL REGION 196
Variable phenotype in 17q12 microdeletions: Clinical and molecular characterization of a new case 193
Muscle Histopathological Abnormalities in a Patient With a CCT5 Mutation Predicted to Affect the Apical Domain of the Chaperonin Subunit 191
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 189
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 185
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 170
Commonalities and distinctions between two neurodevelopmental disorder subtypes associated with SCN2A and SCN8A variants and literature review 170
Recognizable neonatal clinical features of aplasia cutis congenita 163
A paradigmatic autistic phenotype associated with loss of PCDH11Y and NLGN4Y genes 162
The impact of genetic diseases on neonatal and pediatric care 161
Carnitine palmitoyltransferase II (CPT II) deficiency responsible for refractory cardiac arrhythmias, acute multiorgan failure and early fatal outcome 157
Neonatal hyperinsulinemic hypoglycemia: Case report of kabuki syndrome due to a novel KMT2D splicing-site mutation 153
Distal Arthrogryposis type 5 in an Italian family due to an autosomal dominant gain-of-function mutation of the PIEZO2 gene 148
Clinical and genetic approach in the characterization of newborns with anorectal malformation 144
La Bioetica sul campo: una sfida per il neonatologo e il pediatra 142
LARGE FOR GESTATIONAL AGE, MACROSOMIA, OVERGROWTH: AN UPDATE ON DEFINITIONS AND DETERMINANTS 141
The child with overgrowth between clinical variability and genetic heterogeneity 140
Novel SCNN1A gene splicing-site mutation causing autosomal recessive pseudohypoaldosteronism type 1 (PHA1) in two Italian patients belonging to the same small town 140
Jacobsen syndrome and neonatal bleeding: report on two unrelated patients 137
Novel Compound Heterozygous Mutation of the ABCA3 Gene in a Patient with Neonatal-Onset Interstitial Lung Disease 136
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis 134
Total colonic aganglionosis and cleft palate in a newborn with Janus-cysteine 618 mutation of RET proto-oncogene: A case report 125
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 124
A novel NF1 mutation in a pediatric patient with renal artery aneurysm 123
Congenital hypopituitarism and multiple midline defects in a newborn with non-familial Cat Eye syndrome 121
WIDENING THE SCOPE OF NEXT GENERATION SEQUENCING APPLICATIONS IN PEDIATRIC MEDICAL GENETICS 117
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 110
A complex epileptic and dysmorphic phenotype associated with a novel frameshift KDM5B variant and deletion of SCN gene cluster 109
Interstitial 1q Deletion Syndrome: A New Patient with Congenital Diaphragmatic Hernia and Multiple Midline Anomalies 105
Quando l’amnios si rompe troppo presto e… da solo 98
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 90
Novel de novo missense mutation in the interferon regulatory factor 6 gene in an Italian infant with IRF6-related disorder 72
A novel de novo AP2M1 variant in a patient with attention-deficit/hyperactivity disorder, oppositional defiant disorder, and unexpected hemiplegic migraine 40
Self-limited Neonatal Epilepsy associated with global developmental delay and high-threshold sensory profile: A novel KCNQ3 de novo variant unusually located in the voltage sensor S4 segment of the Kv7.3 channel subunit 35
Novel Compound Heterozygous Variants in TGM1 and CYP4F22 in Two Newborns with Non-Syndromic Epidermal Differentiation Disorders (TGM1-nEDD and CYP4F22-nEDD) 19
Totale 7.091
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Categoria #
all - tutte 27.343
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 27.343
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022395 0 0 15 21 16 31 33 20 59 72 32 96
2022/2023738 91 148 22 77 63 103 40 59 69 8 44 14
2023/2024348 11 45 16 34 27 72 38 25 3 12 20 45
2024/2025819 11 48 51 67 44 24 48 50 66 118 95 197
2025/20263.035 273 103 165 257 309 408 420 290 159 227 234 190
2026/2027304 174 111 19 0 0 0 0 0 0 0 0 0
Totale 7.091