CNR Institutional Research Information System

LOI, ANGELA
 Distribuzione geografica
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Continente #
AS - Asia 28
EU - Europa 13
NA - Nord America 10
Totale 51
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Nazione #
SG - Singapore 21
IT - Italia 13
US - Stati Uniti d'America 10
CN - Cina 4
KR - Corea 3
Totale 51
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Città #
Singapore 18
Assemini 11
Guangzhou 4
Santa Clara 4
Seoul 3
Boardman 1
Florence 1
Forest City 1
Totale 43
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Nome #
A novel mutation in the GLC1A gene causes Juvenile Open Angle Glaucoma in four families from the Italian region of Puglia. 12
Novel action of FOXL2 as mediator of Col1a2 gene autoregulation 5
Wilson disease mutations associated with uncommon haplotypes in Mediterranean patients 5
Genome-wide association study of susceptibility loci for breast cancer in Sardinian population 4
A role of BRCA1 and BRCA2 germline mutations in breast cancer susceptibility within Sardinian population 3
FOXL2 modulates cartilage, skeletal development and IGF1-dependent growth in mice 3
Improvement of prenatal diagnosis of Wilson disease using microsatellite markers. 3
The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome 2
Phosphodiesterase 8B Gene Variants Are Associated with Serum TSH Levels and Thyroid Function. 2
Erratum: Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa (The American Journal of Human Genetics (2016) 99(1) (236-245) (S0002929716301616) (10.1016/j.ajhg.2016.05.026)) 2
FOXL2 inactivation by a translocation 171 kb away: Analysis of 500 kb of chromosome 3 for candidate long-range regulatory sequences 2
Prevalence of BRCA1 and BRCA2 mutations in Sardinia 2
Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa 2
Crisponi/cold-induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts 1
FOXL2 inactivation by a translocation 171 kb away: analysis of 500 kb of chromosome 3 for candidate long-range regulatory sequences. 1
Molecular pathology of Wilson disease in Mediterranean populations 1
Genetic mapping of autosomal dominant primary open-angle glaucoma (POAG) in Sardinia. 1
Totale 51
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Categoria #
all - tutte 337
article - articoli 322
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 659
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2023/202422 0 0 0 0 0 0 0 0 0 0 7 15
2024/202529 2 0 25 2 0 0 0 0 0 0 0 0
Totale 51