IRIS
SEBASTIO, GIANFRANCO
 Distribuzione geografica
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Continente #
NA - Nord America 1.634
AS - Asia 1.548
EU - Europa 1.036
SA - Sud America 246
AF - Africa 30
Totale 4.494
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Nazione #
US - Stati Uniti d'America 1.590
SG - Singapore 712
RU - Federazione Russa 483
VN - Vietnam 316
CN - Cina 238
BR - Brasile 203
UA - Ucraina 170
HK - Hong Kong 121
DE - Germania 90
IT - Italia 56
FI - Finlandia 47
FR - Francia 43
GB - Regno Unito 36
IN - India 34
NL - Olanda 26
CA - Canada 23
BD - Bangladesh 21
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
CI - Costa d'Avorio 6
CZ - Repubblica Ceca 6
EC - Ecuador 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
JO - Giordania 3
KR - Corea 3
TW - Taiwan 3
UY - Uruguay 3
DO - Repubblica Dominicana 2
DZ - Algeria 2
EG - Egitto 2
JM - Giamaica 2
KG - Kirghizistan 2
NI - Nicaragua 2
NP - Nepal 2
PE - Perù 2
SY - Repubblica araba siriana 2
TT - Trinidad e Tobago 2
AD - Andorra 1
AZ - Azerbaigian 1
DK - Danimarca 1
GA - Gabon 1
GN - Guinea 1
GR - Grecia 1
HN - Honduras 1
HR - Croazia 1
HU - Ungheria 1
IL - Israele 1
IS - Islanda 1
KZ - Kazakistan 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 4.494
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Città #
Singapore 345
Chandler 184
Jacksonville 169
San Jose 157
Santa Clara 122
Moscow 119
Hong Kong 115
Ho Chi Minh City 90
Beijing 77
Hanoi 71
Ashburn 47
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
São Paulo 14
Council Bluffs 13
Naples 13
Haiphong 11
Orem 11
Ottawa 11
Chennai 9
Montreal 9
Shenyang 9
Warsaw 9
Dallas 8
Hefei 8
London 8
Nuremberg 8
San Mateo 8
Turin 8
Chicago 7
Denver 7
Hải Dương 7
Atlanta 6
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
Phoenix 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
Hebei 3
Jiaxing 3
Kronberg 3
Milwaukee 3
Norwalk 3
Petrolina 3
Philadelphia 3
Totale 2.335
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Nome #
Geleophysic Dysplasia: a 7-year follow-up of a patient with an intermediate form 161
A new familial case of spondylo-epi-metaphyseal dysplasia with multiple dislocations Hall type (leptodactylic form). 149
Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene. 138
Four novel mutations in the cystathionine beta-synthase gene: effect of a second linked mutation on the severity of the homocystinuric phenotype 135
Alstrom syndrome: intrafamilial phenotypic variability in sibs with a novel nonsense mutation of the ALMS1 gene. 134
Analysis of seven maternal polymorphisms of genes involved in homocysteine/folate metabolism and risk of Down syndrome offspring. 130
Holt-Oram syndrome associated with anomalies of the feet 129
Health implications of homocysteine and folates: possible preventive measures. 123
Arginine transport through system y(+)L in cultured human fibroblasts: normal phenotype of cells from LPI subjects. 122
Inv dup del (1)(pter-->q44::q44-->q42:) with the classical phenotype of trisomy 1q42-qter. 122
A y(+)LAT-1 mutant protein interferes with y(+)LAT-2 activity: implications for the molecular pathogenesis of lysinuric protein intolerance. 121
Genetic homogeneity of lysinuric protein intolerance 120
Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion. 116
Feasibility of prenatal diagnosis of lysinuric protein intolerance by linkage analysis: A case report 114
Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance 113
Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intolerance. 112
Trisomy 18 and hypertrophy cardiomyopathy in an 18-year-old woman. 111
The molecular bases of cystinuria and lysinuric protein intolerance 110
Growth hormone deficiency in a patient with lysinuric protein intolerance. 109
SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance 107
Recurrent fatal pulmonary alveolar proteinosis after heart-lung transplantation in a child with lysinuric protein intolerance. 107
A new case of cryptic unbalanced t(1:12)(q44;p13.3) translocation with polymicrogyria 106
Case of Myhre syndrome with autism and peculiar skin histological findings 104
Lysinuric protein intolerance characterized by bone marrow abnormalities and severe clinical course 102
Cationic amino acid transport through system y+L in erythrocytes of patients with lysinuric protein intolerance. 100
Early detection of lung involvement in lysinuric protein intolerance: role of high resolution computed tomography and radioisotopic methods 96
Spina bifida and folate-related genes: a study of gene-gene interactions. 95
The gene encoding a cationic amino acid transporter (SLC7A4) maps to the region deleted in the velocardiofacial syndrome 95
Phenylketonuria in Italy: distinct distribution pattern of three mutations of the phenylalanine hydroxylase gene 93
Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type I 92
Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance 92
Deletions of the steroid sulphatase gene in "classical" X-linkedichthyosis and in X-linked ichthyosis associated with Kallmann syndrome 91
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
Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intolerance. 84
Lysinuric protein intolerance: Possible genetic heterogeneity? 80
Feasibility of prenatal diagnosis of lysinuric protein intolerance: a case report. 80
The molecular basis of homocystinuria due to cystathionine ß-synthase deficiency in Italian families and report of four novel mutations 80
Regulation of 3' splice site selection in the 844ins68 polymorphism of the cystathionine Beta -synthase gene. 79
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 77
SLC7A8, a gene mapping within the lysinuric protein intolerance critical region, encodes a new member of the glycoprotein-associated amino acid transporter family. 68
Case of Myhre syndrome with autism and peculiar skin histological findings. 65
Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene. 63
Spina bifida, 677C->T mutation, and role of folate 63
Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene 53
Totale 4.531
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Categoria #
all - tutte 15.012
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 15.012
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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
2026/202732 32 0 0 0 0 0 0 0 0 0 0 0
Totale 4.531