about
Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBATThe putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndromeMYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss.Genetic heterogeneity in cystinuria: the SLC3A1 gene is linked to type I but not to type III cystinuriaThe IgA nephropathy Biobank. An important starting point for the genetic dissection of a complex trait.A new locus on 3p23-p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1HVSX1 mutational analysis in a series of Italian patients affected by keratoconus: detection of a novel mutation.Expression of VSX1 in human corneal keratocytes during differentiation into myofibroblasts in response to wound healing.Stability and functional effectiveness of phosphorothioate modified duplex DNA and synthetic 'mini-genes'.Genetic heterogeneity in Italian families with IgA nephropathy: suggestive linkage for two novel IgA nephropathy lociIdentification and Clinical Characterization of Adult Patients with Multigenerational Diabetes MellitusGenomic structure and organization of the human rBAT gene (SLC3A1).Mutational screening of VSX1, SPARC, SOD1, LOX, and TIMP3 in keratoconus.Clinical utility gene card for: Cystinuria.Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients.Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients.Cystinuria phenotyping by oral lysine and arginine loading.Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification.Human gene mutations. Gene symbol: SLC3A1. Disease: cystinuria.Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients.Human gene mutations. Gene symbol: SLC7A9. Disease: cystinuria.Lattice Corneal Dystrophy-Variant: a report of three new cases due to p.V631D mutation in the TGFBI gene.Human gene mutations. Gene symbol: SLC7A9. Disease: cystinuria.Human gene mutations. Gene symbol: SLC3A1. Disease: cystinuria.Molecular analysis in a family presenting with a mild form of late-onset autosomal dominant chronic progressive external ophthalmoplegia.Recombinant families locate the gene for non-type I cystinuria between markers C13 and D19S587 on chromosome 19q13.1.The missing ApoE allele.Mitochondrial DNA copy number differentiates the Leber's hereditary optic neuropathy affected individuals from the unaffected mutation carriers.Indirect CFTR mutation identification by PCR/OLA anomalous electropherograms.Linkage analysis in keratoconus: replication of locus 5q21.2 and identification of other suggestive Loci.Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis.Gene symbol: SLC3A1. Disease: cystinuria.Molecular analysis of the cystinuria disease gene: identification of four new mutations, one large deletion, and one polymorphismCellular Retinol Binding Protein 1 (RBP1): A frequent polymorphism, refined map position and exclusion as the Blepharophimosis Ptosis Epicanthus inversus Syndrome genePosttransplant Recurrence of Proteinuria in a Case of Focal Segmental Glomerulosclerosis Associated with WT1 MutationWT1 mutations in nephrotic syndrome revisited. High prevalence in young girls, associations and renal phenotypesPolymorphism of motilin gene in patients with Crohn's disease20 novel point mutations and one large deletion in EXT1 and EXT2 genes: Report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosisPhenotype characterization and prevalence of rBAT M467T mutation in Italian cystinuric patientsMolecular screening of genetic defects with RNA-SSCP analysis: the PKU and cystinuria model
P50
Q22010508-75F8268B-907B-48FD-B146-B271E004BEA5Q24290819-D45AC49B-A437-4405-B104-25A2507194D9Q24535864-D46D9662-0F44-4085-9F5C-6824100FE8A7Q24563071-39F0FD39-D555-4AD7-971E-AE912A9B3DB4Q24813626-205058FD-35E1-4296-80CA-FD64D95E05CFQ34329134-0E467B6F-BFB8-42FE-B8A0-D281B9B6B3E4Q34380348-6DBAC08B-42BB-4CBF-9469-192160B97C86Q34583893-58158DD7-0466-48C1-9703-2B854FAC03FFQ34776973-1FDF6BD1-3A19-4125-AC5D-C5DC3E277281Q35221763-87B83175-151A-4713-917E-9F593EEC8C83Q35750020-EBB261B9-F10B-41F6-88A5-9F743C3B0EC9Q36832812-CECF66A8-6B61-4262-A813-A0B4CC29D903Q38608831-37690A04-DD14-4C7E-9215-92A204B17F58Q40492333-023CDF1A-F52F-439F-BDAB-D599724B2D92Q41933920-E514A9BC-B06C-4F62-A6C7-70921EDB6C41Q43270898-4588A997-70E9-41C7-9471-203E129FE6B8Q43841769-1ABCADD0-339D-419D-BC6C-B27CAA7F4B8FQ44142928-59DA4EAD-4496-40F1-8014-FBE7541EEC6AQ44425979-0E65CDDD-502F-40C2-BFCA-FD442DA6DEA2Q45345298-EE6BFA4A-46CE-4528-913E-96C6EB70AE38Q45751372-DDD24D38-693D-4F1A-9FF6-759F7D96A14EQ45774446-7A3C0141-C7B9-4C53-A07B-0E814DAC8940Q45812727-D17EC699-3D7A-42F3-AC14-A18E56BC9EB6Q45931335-51AB1D06-161F-4563-B388-3D720F1C37EEQ47844945-FAD60AE2-37C4-44B5-9113-9A87DE33CD90Q47927198-E641F426-819B-4C70-9B6B-BE25F6B80F35Q48082099-FE25D23F-78D2-40E6-9259-2653FA049A21Q50439554-15F6DA00-8DD7-4B2C-B3C7-E2BD2D4098D9Q51298302-896221F2-C594-406E-8436-84900B9C5075Q51864838-D68FC7F3-BB0C-44D2-A69B-13EE2511742BQ53091941-ECABDFD5-4BAB-45F1-9F7E-B99A46420BC1Q53702520-4F48E39B-03F4-4B07-9079-683015658337Q57304731-EE14651F-20F9-4023-8798-7D4F36B3924BQ57748363-A7B0DE25-2681-4880-9365-2E7155D97757Q57980367-8B396414-8835-4FFD-87D6-A5B48613B377Q57980374-E0765B8D-FE85-4D63-806B-961B575EFC2EQ60023645-8DFAA422-0DD1-4524-9D41-0C1D0FBF1170Q61656903-5652E005-E400-455F-A5BC-D3C5FB71819CQ71345378-1BBBB329-173A-4261-A579-1861B2C2C7C9Q71523075-26512CF8-1FDE-49FA-AB78-0F7065436BB3
P50
description
hulumtues
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Luigi Bisceglia
@ast
Luigi Bisceglia
@en
Luigi Bisceglia
@es
Luigi Bisceglia
@nl
Luigi Bisceglia
@sl
type
label
Luigi Bisceglia
@ast
Luigi Bisceglia
@en
Luigi Bisceglia
@es
Luigi Bisceglia
@nl
Luigi Bisceglia
@sl
prefLabel
Luigi Bisceglia
@ast
Luigi Bisceglia
@en
Luigi Bisceglia
@es
Luigi Bisceglia
@nl
Luigi Bisceglia
@sl
P1053
B-8720-2017
P106
P1153
7003439641
P21
P31
P3829
P496
0000-0001-5367-8518