IRIS
SEBASTIO, GIANFRANCO
 Distribuzione geografica
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Continente #
NA - Nord America 938
EU - Europa 367
AS - Asia 196
AF - Africa 4
Totale 1.505
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Nazione #
US - Stati Uniti d'America 927
UA - Ucraina 163
SG - Singapore 136
DE - Germania 49
CN - Cina 48
FI - Finlandia 42
IT - Italia 34
NL - Olanda 22
GB - Regno Unito 17
IE - Irlanda 17
SE - Svezia 14
CA - Canada 11
IN - India 7
CZ - Repubblica Ceca 6
IR - Iran 5
CI - Costa d'Avorio 4
BE - Belgio 2
DK - Danimarca 1
Totale 1.505
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Città #
Chandler 184
Jacksonville 167
Singapore 120
Santa Clara 63
Princeton 44
Millbury 39
Boston 35
Woodbridge 30
Wilmington 23
Nanjing 22
Amsterdam 18
Ann Arbor 15
Ottawa 11
Shenyang 9
San Mateo 8
Brno 6
Leawood 6
Nanchang 6
Naples 6
Orange 5
Ardabil 4
Monmouth Junction 4
Munich 4
Ashburn 3
Augusta 3
Beijing 3
Hebei 3
Jiaxing 3
Kronberg 3
Norwalk 3
Rome 3
Boardman 2
Indiana 2
Mumbai 2
Ponte di Piave 2
Pune 2
Waanrode 2
Alzano 1
Berlin 1
Bologna 1
Cercola 1
Des Moines 1
Dublin 1
Falls Church 1
Hamburg 1
Kunming 1
London 1
Napoli 1
New York 1
Pozzuoli 1
Redmond 1
Redwood City 1
Sacramento 1
San Giorgio A Cremano 1
Terracina 1
Tianjin 1
Yellow Springs 1
Totale 885
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Nome #
Geleophysic Dysplasia: a 7-year follow-up of a patient with an intermediate form 64
Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type I 52
Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intolerance. 50
Four novel mutations in the cystathionine beta-synthase gene: effect of a second linked mutation on the severity of the homocystinuric phenotype 49
Alstrom syndrome: intrafamilial phenotypic variability in sibs with a novel nonsense mutation of the ALMS1 gene. 48
Analysis of seven maternal polymorphisms of genes involved in homocysteine/folate metabolism and risk of Down syndrome offspring. 48
A new familial case of spondylo-epi-metaphyseal dysplasia with multiple dislocations Hall type (leptodactylic form). 43
Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion. 43
Arginine transport through system y(+)L in cultured human fibroblasts: normal phenotype of cells from LPI subjects. 43
Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance 42
Genetic homogeneity of lysinuric protein intolerance 42
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 41
Early detection of lung involvement in lysinuric protein intolerance: role of high resolution computed tomography and radioisotopic methods 41
Deletions of the steroid sulphatase gene in "classical" X-linkedichthyosis and in X-linked ichthyosis associated with Kallmann syndrome 41
Feasibility of prenatal diagnosis of lysinuric protein intolerance: a case report. 40
Lysinuric protein intolerance: Possible genetic heterogeneity? 39
Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene. 39
Health implications of homocysteine and folates: possible preventive measures. 38
A y(+)LAT-1 mutant protein interferes with y(+)LAT-2 activity: implications for the molecular pathogenesis of lysinuric protein intolerance. 38
Cationic amino acid transport through system y+L in erythrocytes of patients with lysinuric protein intolerance. 37
Spina bifida and folate-related genes: a study of gene-gene interactions. 36
A new case of cryptic unbalanced t(1:12)(q44;p13.3) translocation with polymicrogyria 36
Recurrent fatal pulmonary alveolar proteinosis after heart-lung transplantation in a child with lysinuric protein intolerance. 34
The molecular bases of cystinuria and lysinuric protein intolerance 32
Case of Myhre syndrome with autism and peculiar skin histological findings 32
Feasibility of prenatal diagnosis of lysinuric protein intolerance by linkage analysis: A case report 32
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 31
Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intolerance. 29
Inv dup del (1)(pter-->q44::q44-->q42:) with the classical phenotype of trisomy 1q42-qter. 29
Case of Myhre syndrome with autism and peculiar skin histological findings. 29
Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene. 28
SLC7A8, a gene mapping within the lysinuric protein intolerance critical region, encodes a new member of the glycoprotein-associated amino acid transporter family. 28
The gene encoding a cationic amino acid transporter (SLC7A4) maps to the region deleted in the velocardiofacial syndrome 28
Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance 28
Regulation of 3' splice site selection in the 844ins68 polymorphism of the cystathionine Beta -synthase gene. 28
Holt-Oram syndrome associated with anomalies of the feet 28
The molecular basis of homocystinuria due to cystathionine ß-synthase deficiency in Italian families and report of four novel mutations 27
SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance 27
Growth hormone deficiency in a patient with lysinuric protein intolerance. 27
Spina bifida, 677C->T mutation, and role of folate 25
Lysinuric protein intolerance characterized by bone marrow abnormalities and severe clinical course 23
Trisomy 18 and hypertrophy cardiomyopathy in an 18-year-old woman. 18
Phenylketonuria in Italy: distinct distribution pattern of three mutations of the phenylalanine hydroxylase gene 17
Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene 12
Totale 1.542
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Categoria #
all - tutte 6.773
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 6.773
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/202090 0 0 0 0 34 1 0 0 0 2 8 45
2020/2021290 2 33 30 35 34 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
2024/2025206 66 87 0 12 41 0 0 0 0 0 0 0
Totale 1.542