IRIS
SEBASTIO, GIANFRANCO
 Distribuzione geografica
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Continente #
NA - Nord America 1.314
AS - Asia 1.163
EU - Europa 976
SA - Sud America 235
AF - Africa 24
Totale 3.712
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Nazione #
US - Stati Uniti d'America 1.275
SG - Singapore 670
RU - Federazione Russa 483
CN - Cina 202
BR - Brasile 198
UA - Ucraina 169
HK - Hong Kong 111
VN - Vietnam 95
DE - Germania 85
IT - Italia 50
FI - Finlandia 47
GB - Regno Unito 34
NL - Olanda 25
IN - India 22
CA - Canada 21
SE - Svezia 18
IE - Irlanda 17
AR - Argentina 14
BD - Bangladesh 13
ES - Italia 12
MX - Messico 12
PL - Polonia 12
JP - Giappone 9
ZA - Sudafrica 9
CZ - Repubblica Ceca 6
EC - Ecuador 6
TR - Turchia 6
IQ - Iraq 5
IR - Iran 5
PY - Paraguay 5
UZ - Uzbekistan 5
AT - Austria 4
BE - Belgio 4
CI - Costa d'Avorio 4
ID - Indonesia 4
KE - Kenya 3
UY - Uruguay 3
VE - Venezuela 3
AE - Emirati Arabi Uniti 2
CL - Cile 2
CO - Colombia 2
DO - Repubblica Dominicana 2
EG - Egitto 2
ET - Etiopia 2
JO - Giordania 2
KG - Kirghizistan 2
PE - Perù 2
PH - Filippine 2
SY - Repubblica araba siriana 2
TT - Trinidad e Tobago 2
AD - Andorra 1
DK - Danimarca 1
DZ - Algeria 1
FR - Francia 1
GA - Gabon 1
GN - Guinea 1
GR - Grecia 1
HR - Croazia 1
HU - Ungheria 1
IL - Israele 1
IS - Islanda 1
JM - Giamaica 1
KZ - Kazakistan 1
LT - Lituania 1
NI - Nicaragua 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 3.712
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Città #
Singapore 315
Chandler 184
Jacksonville 168
Moscow 119
Santa Clara 118
Hong Kong 111
Beijing 77
Princeton 44
Los Angeles 42
Ho Chi Minh City 39
Millbury 39
Boston 36
Ashburn 31
Woodbridge 30
Buffalo 23
Wilmington 23
Nanjing 22
Amsterdam 20
Munich 18
Ann Arbor 15
Hanoi 15
Brooklyn 14
São Paulo 14
Naples 11
New York 11
Ottawa 11
The Dalles 11
Shenyang 9
Tokyo 9
Warsaw 9
Chennai 8
Hefei 8
Montreal 8
San Mateo 8
Da Nang 7
London 7
Nuremberg 7
Turin 7
Brno 6
Chicago 6
Leawood 6
Nanchang 6
Orem 6
Redondo Beach 6
Rio de Janeiro 6
Canoas 5
Mexico City 5
Orange 5
Ardabil 4
Belo Horizonte 4
Campinas 4
Dallas 4
Denver 4
Haiphong 4
Joinville 4
Monmouth Junction 4
Mumbai 4
Ninh Bình 4
Phoenix 4
Poplar 4
Querétaro 4
Rome 4
Stockholm 4
Tashkent 4
Thái Bình 4
Thái Nguyên 4
Ananindeua 3
Aparecida de Goiânia 3
Asunción 3
Atlanta 3
Augusta 3
Biên Hòa 3
Boardman 3
Buenos Aires 3
Cabo Frio 3
Dalian 3
Düsseldorf 3
Elk Grove Village 3
Guangzhou 3
Guarulhos 3
Hebei 3
Jiaxing 3
Kronberg 3
Nairobi 3
Norwalk 3
Petrolina 3
Praia Grande 3
Seattle 3
São Sebastião do Paraíso 3
Turku 3
Zhengzhou 3
Addis Ababa 2
Amman 2
Araguari 2
Baghdad 2
Barretos 2
Belém 2
Bishkek 2
Brasília 2
Brussels 2
Totale 1.870
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Nome #
Geleophysic Dysplasia: a 7-year follow-up of a patient with an intermediate form 145
Four novel mutations in the cystathionine beta-synthase gene: effect of a second linked mutation on the severity of the homocystinuric phenotype 119
A new familial case of spondylo-epi-metaphyseal dysplasia with multiple dislocations Hall type (leptodactylic form). 115
Alstrom syndrome: intrafamilial phenotypic variability in sibs with a novel nonsense mutation of the ALMS1 gene. 114
Analysis of seven maternal polymorphisms of genes involved in homocysteine/folate metabolism and risk of Down syndrome offspring. 110
Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene. 108
Holt-Oram syndrome associated with anomalies of the feet 106
Arginine transport through system y(+)L in cultured human fibroblasts: normal phenotype of cells from LPI subjects. 103
Inv dup del (1)(pter-->q44::q44-->q42:) with the classical phenotype of trisomy 1q42-qter. 102
A y(+)LAT-1 mutant protein interferes with y(+)LAT-2 activity: implications for the molecular pathogenesis of lysinuric protein intolerance. 101
Health implications of homocysteine and folates: possible preventive measures. 97
Genetic homogeneity of lysinuric protein intolerance 97
Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intolerance. 96
Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion. 94
Case of Myhre syndrome with autism and peculiar skin histological findings 93
Recurrent fatal pulmonary alveolar proteinosis after heart-lung transplantation in a child with lysinuric protein intolerance. 92
A new case of cryptic unbalanced t(1:12)(q44;p13.3) translocation with polymicrogyria 91
Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance 90
Cationic amino acid transport through system y+L in erythrocytes of patients with lysinuric protein intolerance. 90
Lysinuric protein intolerance characterized by bone marrow abnormalities and severe clinical course 88
Trisomy 18 and hypertrophy cardiomyopathy in an 18-year-old woman. 87
Feasibility of prenatal diagnosis of lysinuric protein intolerance by linkage analysis: A case report 87
Spina bifida and folate-related genes: a study of gene-gene interactions. 85
Early detection of lung involvement in lysinuric protein intolerance: role of high resolution computed tomography and radioisotopic methods 85
Growth hormone deficiency in a patient with lysinuric protein intolerance. 85
SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance 84
Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type I 83
The molecular bases of cystinuria and lysinuric protein intolerance 83
The gene encoding a cationic amino acid transporter (SLC7A4) maps to the region deleted in the velocardiofacial syndrome 80
Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intolerance. 76
Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance 75
Deletions of the steroid sulphatase gene in "classical" X-linkedichthyosis and in X-linked ichthyosis associated with Kallmann syndrome 75
Phenylketonuria in Italy: distinct distribution pattern of three mutations of the phenylalanine hydroxylase gene 75
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 72
Feasibility of prenatal diagnosis of lysinuric protein intolerance: a case report. 66
Lysinuric protein intolerance: Possible genetic heterogeneity? 65
Regulation of 3' splice site selection in the 844ins68 polymorphism of the cystathionine Beta -synthase gene. 65
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 60
The molecular basis of homocystinuria due to cystathionine ß-synthase deficiency in Italian families and report of four novel mutations 60
SLC7A8, a gene mapping within the lysinuric protein intolerance critical region, encodes a new member of the glycoprotein-associated amino acid transporter family. 55
Spina bifida, 677C->T mutation, and role of folate 53
Case of Myhre syndrome with autism and peculiar skin histological findings. 52
Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene. 50
Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene 40
Totale 3.749
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Categoria #
all - tutte 12.528
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 12.528
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021156 0 0 0 0 0 27 33 1 33 0 62 0
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
2025/20261.271 271 147 213 195 391 54 0 0 0 0 0 0
Totale 3.749