IRIS
SEBASTIO, GIANFRANCO
 Distribuzione geografica
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Continente #
NA - Nord America 1.774
AS - Asia 1.550
EU - Europa 1.042
SA - Sud America 247
Continente sconosciuto - Info sul continente non disponibili 37
AF - Africa 30
Totale 4.680
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Nazione #
US - Stati Uniti d'America 1.722
SG - Singapore 712
RU - Federazione Russa 483
VN - Vietnam 316
CN - Cina 238
BR - Brasile 203
UA - Ucraina 170
HK - Hong Kong 122
DE - Germania 91
IT - Italia 59
FI - Finlandia 47
FR - Francia 43
GB - Regno Unito 37
IN - India 34
CA - Canada 26
NL - Olanda 26
BD - Bangladesh 22
JP - Giappone 18
SE - Svezia 18
IE - Irlanda 17
AR - Argentina 16
ES - Italia 15
PH - Filippine 15
MX - Messico 12
PL - Polonia 12
IQ - Iraq 10
ZA - Sudafrica 9
TH - Thailandia 8
TR - Turchia 8
EC - Ecuador 7
CI - Costa d'Avorio 6
CZ - Repubblica Ceca 6
ID - Indonesia 6
PK - Pakistan 6
PY - Paraguay 6
IR - Iran 5
UZ - Uzbekistan 5
AT - Austria 4
BE - Belgio 4
KE - Kenya 4
VE - Venezuela 4
AE - Emirati Arabi Uniti 3
CL - Cile 3
CO - Colombia 3
ET - Etiopia 3
JM - Giamaica 3
JO - Giordania 3
KR - Corea 3
TT - Trinidad e Tobago 3
TW - Taiwan 3
UY - Uruguay 3
DO - Repubblica Dominicana 2
DZ - Algeria 2
EG - Egitto 2
KG - Kirghizistan 2
NI - Nicaragua 2
NP - Nepal 2
PE - Perù 2
SY - Repubblica araba siriana 2
AD - Andorra 1
AZ - Azerbaigian 1
CR - Costa Rica 1
DK - Danimarca 1
EE - Estonia 1
GA - Gabon 1
GN - Guinea 1
GR - Grecia 1
GT - Guatemala 1
HN - Honduras 1
HR - Croazia 1
HU - Ungheria 1
IL - Israele 1
IS - Islanda 1
KZ - Kazakistan 1
LC - Santa Lucia 1
LT - Lituania 1
MA - Marocco 1
PS - Palestinian Territory 1
PT - Portogallo 1
QA - Qatar 1
RS - Serbia 1
SA - Arabia Saudita 1
YE - Yemen 1
ZM - Zambia 1
Totale 4.643
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Città #
Singapore 345
San Jose 190
Chandler 184
Jacksonville 169
Santa Clara 125
Moscow 119
Hong Kong 115
Ho Chi Minh City 90
Beijing 77
Hanoi 71
Council Bluffs 57
Ashburn 50
Princeton 44
Los Angeles 43
Millbury 39
Lauterbourg 37
Boston 36
Woodbridge 30
The Dalles 29
Wilmington 24
Buffalo 23
Nanjing 22
Amsterdam 21
Da Nang 21
Brooklyn 18
Munich 18
Tokyo 16
Ann Arbor 15
New York 15
Naples 14
São Paulo 14
Haiphong 11
Orem 11
Ottawa 11
Phoenix 10
Chennai 9
Montreal 9
Shenyang 9
Warsaw 9
Chicago 8
Dallas 8
Denver 8
Hefei 8
London 8
Nuremberg 8
San Mateo 8
Turin 8
Atlanta 7
Hải Dương 7
Brno 6
Leawood 6
Nanchang 6
Redondo Beach 6
Rio de Janeiro 6
Baghdad 5
Canoas 5
Mexico City 5
Monmouth Junction 5
Mumbai 5
Ninh Bình 5
Orange 5
Rome 5
Thái Bình 5
Ardabil 4
Belo Horizonte 4
Biên Hòa 4
Boardman 4
Campinas 4
Joinville 4
Nairobi 4
New Delhi 4
Poplar 4
Querétaro 4
Seattle 4
Stockholm 4
Tashkent 4
Thái Nguyên 4
Addis Ababa 3
Amman 3
Ananindeua 3
Aparecida de Goiânia 3
Asunción 3
Augusta 3
Buenos Aires 3
Cabo Frio 3
Charlotte 3
Dalian 3
Durham 3
Düsseldorf 3
Elk Grove Village 3
Frankfurt am Main 3
Guangzhou 3
Guarulhos 3
Guayaquil 3
Hebei 3
Jiaxing 3
Kronberg 3
Louisville 3
Milwaukee 3
Norwalk 3
Totale 2.428
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Nome #
Geleophysic Dysplasia: a 7-year follow-up of a patient with an intermediate form 165
A new familial case of spondylo-epi-metaphyseal dysplasia with multiple dislocations Hall type (leptodactylic form). 152
Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene. 142
Four novel mutations in the cystathionine beta-synthase gene: effect of a second linked mutation on the severity of the homocystinuric phenotype 138
Alstrom syndrome: intrafamilial phenotypic variability in sibs with a novel nonsense mutation of the ALMS1 gene. 137
Analysis of seven maternal polymorphisms of genes involved in homocysteine/folate metabolism and risk of Down syndrome offspring. 136
Holt-Oram syndrome associated with anomalies of the feet 134
A y(+)LAT-1 mutant protein interferes with y(+)LAT-2 activity: implications for the molecular pathogenesis of lysinuric protein intolerance. 127
Health implications of homocysteine and folates: possible preventive measures. 126
Inv dup del (1)(pter-->q44::q44-->q42:) with the classical phenotype of trisomy 1q42-qter. 126
Arginine transport through system y(+)L in cultured human fibroblasts: normal phenotype of cells from LPI subjects. 125
Genetic homogeneity of lysinuric protein intolerance 123
Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intolerance. 118
Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion. 118
Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance 116
Trisomy 18 and hypertrophy cardiomyopathy in an 18-year-old woman. 116
Feasibility of prenatal diagnosis of lysinuric protein intolerance by linkage analysis: A case report 115
Growth hormone deficiency in a patient with lysinuric protein intolerance. 114
Recurrent fatal pulmonary alveolar proteinosis after heart-lung transplantation in a child with lysinuric protein intolerance. 112
The molecular bases of cystinuria and lysinuric protein intolerance 111
A new case of cryptic unbalanced t(1:12)(q44;p13.3) translocation with polymicrogyria 110
SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance 109
Case of Myhre syndrome with autism and peculiar skin histological findings 109
Spina bifida and folate-related genes: a study of gene-gene interactions. 108
Lysinuric protein intolerance characterized by bone marrow abnormalities and severe clinical course 107
Cationic amino acid transport through system y+L in erythrocytes of patients with lysinuric protein intolerance. 104
Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance 97
Early detection of lung involvement in lysinuric protein intolerance: role of high resolution computed tomography and radioisotopic methods 97
Deletions of the steroid sulphatase gene in "classical" X-linkedichthyosis and in X-linked ichthyosis associated with Kallmann syndrome 97
The gene encoding a cationic amino acid transporter (SLC7A4) maps to the region deleted in the velocardiofacial syndrome 96
Phenylketonuria in Italy: distinct distribution pattern of three mutations of the phenylalanine hydroxylase gene 95
Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type I 94
Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intolerance. 93
A 68 bp insertion found in a homocystinuric patient is a common variant and is skipped by alternative splicing of the cystathionine b-synthase mRNA 90
The molecular basis of homocystinuria due to cystathionine ß-synthase deficiency in Italian families and report of four novel mutations 82
Lysinuric protein intolerance: Possible genetic heterogeneity? 81
Feasibility of prenatal diagnosis of lysinuric protein intolerance: a case report. 81
Regulation of 3' splice site selection in the 844ins68 polymorphism of the cystathionine Beta -synthase gene. 81
Molecucal and cytogenetic chracterization of a recurrent unbalanced translocation (4;21)(p16.3;q22.1): relevance to the Wolf-Hirschhorn and Down syndrome critical regions 78
SLC7A8, a gene mapping within the lysinuric protein intolerance critical region, encodes a new member of the glycoprotein-associated amino acid transporter family. 69
Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene. 66
Case of Myhre syndrome with autism and peculiar skin histological findings. 66
Spina bifida, 677C->T mutation, and role of folate 64
Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene 55
Totale 4.680
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Categoria #
all - tutte 16.300
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 16.300
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022219 0 0 0 3 3 12 0 9 23 5 76 88
2022/2023341 48 43 10 28 54 37 3 31 52 20 13 2
2023/2024146 7 47 24 7 2 3 0 7 3 2 36 8
2024/20251.142 66 87 0 12 43 71 125 67 65 99 396 111
2025/20262.021 271 147 213 195 391 76 146 125 280 99 42 36
2026/2027181 49 86 46 0 0 0 0 0 0 0 0 0
Totale 4.680