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List of works by Luigi Bisceglia

20 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 exostosis

article

A new locus on 3p23-p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H

scientific article

An overview of SLC3A1 and SLC7A9 mutations in Greek cystinuria patients

scientific article published on 07 September 2008

Analysis of the complete coding region of the CFTR gene in a cohort of CF patients from north-eastern Italy: identification of 90% of the mutations

scientific article published on 01 April 1995

Cellular Retinol Binding Protein 1 (RBP1): A frequent polymorphism, refined map position and exclusion as the Blepharophimosis Ptosis Epicanthus inversus Syndrome gene

article

Clinical utility gene card for: Cystinuria.

scientific article

Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients

scientific article published on 14 February 2011

Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification.

scientific article published in October 2002

Cystinuria phenotyping by oral lysine and arginine loading.

scientific article published in December 2001

Detection of dystrophin deletion carriers using FISH analysis

scientific article published on 01 July 1997

Development of RNA-SSCP protocols for the identification and screening of CFTR mutations: identification of two new mutations

scientific article published on 01 January 1994

Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis.

scientific article

Expression of VSX1 in human corneal keratocytes during differentiation into myofibroblasts in response to wound healing.

scientific article

Gene symbol: SLC3A1

scientific article published on 01 April 2007

Gene symbol: SLC3A1. Disease: Cystinuria

scientific article published on 01 May 2005

Gene symbol: SLC3A1. Disease: cystinuria

Gene symbol: SLC3A1. Disease: cystinuria

Gene symbol: SLC3A1. Disease: cystinuria

Gene symbol: SLC3A1. Disease: cystinuria

Gene symbol: SLC3A1. Disease: cystinuria

Gene symbol: SLC3A1. Disease: cystinuria

article published in 2005

Gene symbol: SLC3A1. Disease: cystinuria

Gene symbol: SLC3A1. Disease: cystinuria

Gene symbol: SLC3A1. Disease: cystinuria

Gene symbol: SLC3A1. Disease: cystinuria

Gene symbol: SLC3A1. Disease: cystinuria

Gene symbol: SLC3A1. Disease: cystinuria

Gene symbol: SLC3A1. Disease: cystinuria

Gene symbol: SLC3A1. Disease: cystinuria.

scientific article

Gene symbol: SLC7A9. Disease: cystinuria, type I

scientific article published on 01 February 2005

Gene symbol: SLC7A9. Disease: cystinuria, type non-I

scientific article published on 01 February 2005

Gene symbol: SLC7A9. Disease: cystinuria, type non-I

scientific article published in February 2005

Gene symbol: SLC7A9. Disease: cystinuria, type non-I

Gene symbol: SLC7A9. Disease: cystinuria, type non-I

Gene symbol: SLC7A9. Disease: cystinuria, type non-I

Gene symbol: SLC7A9. Disease: cystinuria, type non-I

Gene symbol: SLC7A9. Disease: cystinuria, type non-I

Gene symbol: SLC7A9. Disease: cystinuria, type non-I

Gene symbol: SLC7A9. Disease: cystinuria, type non-I

Gene symbol: SLC7A9. Disease: cystinuria, type non-I

Gene symbol: SLC7A9. Disease: cystinuria, untyped

scientific article published on 01 February 2005

Gene symbol: SLC7A9. Disease: cystinuria, untyped

scientific article published in February 2005

Gene symbol: SLC7A9. Disease: cystinuria, untyped

Genetic heterogeneity in Italian families with IgA nephropathy: suggestive linkage for two novel IgA nephropathy loci

scientific article

Genetic heterogeneity in cystinuria: the SLC3A1 gene is linked to type I but not to type III cystinuria

scientific article

Genomic structure and organization of the human rBAT gene (SLC3A1).

scientific article published on October 1996

Homozygosity for a novel splice site mutation (2790-2 A--->G) preceding exon 15 of the CFTR gene in a cystic fibrosis patient of North-East Italian descent

scientific article published on 01 April 1995

Human gene mutations. Gene symbol: SLC3A1. Disease: cystinuria

scientific article published on 01 September 2007

Human gene mutations. Gene symbol: SLC3A1. Disease: cystinuria

Human gene mutations. Gene symbol: SLC3A1. Disease: cystinuria

scientific article published in September 2007

Human gene mutations. Gene symbol: SLC3A1. Disease: cystinuria.

scientific article published in September 2007

Human gene mutations. Gene symbol: SLC3A1. Disease: cystinuria.

scientific article

Human gene mutations. Gene symbol: SLC7A9. Disease: cystinuria

scientific article published on 01 September 2007

Human gene mutations. Gene symbol: SLC7A9. Disease: cystinuria

Human gene mutations. Gene symbol: SLC7A9. Disease: cystinuria

Human gene mutations. Gene symbol: SLC7A9. Disease: cystinuria

Human gene mutations. Gene symbol: SLC7A9. Disease: cystinuria

Human gene mutations. Gene symbol: SLC7A9. Disease: cystinuria

Human gene mutations. Gene symbol: SLC7A9. Disease: cystinuria

scientific article published in September 2007

Human gene mutations. Gene symbol: SLC7A9. Disease: cystinuria

Human gene mutations. Gene symbol: SLC7A9. Disease: cystinuria.

scientific article published in September 2007

Human gene mutations. Gene symbol: SLC7A9. Disease: cystinuria.

scientific article

Identification and Clinical Characterization of Adult Patients with Multigenerational Diabetes Mellitus

scientific article published on 19 August 2015

Indirect CFTR mutation identification by PCR/OLA anomalous electropherograms

scientific article published in January 2005

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

scientific article published in January 2010

Lattice Corneal Dystrophy-Variant: a report of three new cases due to p.V631D mutation in the TGFBI gene.

scientific article published in January 2013

Linkage analysis in keratoconus: replication of locus 5q21.2 and identification of other suggestive Loci

scientific article published on 31 October 2008

MYO6, the Human Homologue of the Gene Responsible for Deafness in Snell’s Waltzer Mice, Is Mutated in Autosomal Dominant Nonsyndromic Hearing Loss

scientific article published in September 2001

MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss

scientific article

Mitochondrial DNA copy number differentiates the Leber's hereditary optic neuropathy affected individuals from the unaffected mutation carriers

scientific article published on 23 July 2015

Molecular analysis in a family presenting with a mild form of late-onset autosomal dominant chronic progressive external ophthalmoplegia

scientific article

Molecular analysis of the cystinuria disease gene: identification of four new mutations, one large deletion, and one polymorphism

article

Molecular screening of genetic defects with RNA-SSCP analysis: the PKU and cystinuria model

scientific article published on 01 June 1995

Mutational screening of VSX1, SPARC, SOD1, LOX, and TIMP3 in keratoconus.

scientific article published on 24 September 2011

Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT

scientific article

Novel human pathological mutations. Gene symbol: SLC3A1. Disease: cystinuria

scientific article published on 01 December 2007

Novel human pathological mutations. Gene symbol: SLC3A1. Disease: cystinuria

scientific article published on 01 April 2010

Novel human pathological mutations. Gene symbol: SLC3A1. Disease: cystinuria

article published in 2010

Novel human pathological mutations. Gene symbol: SLC3A1. Disease: cystinuria

Novel human pathological mutations. Gene symbol: SLC3A1. Disease: cystinuria

Novel human pathological mutations. Gene symbol: SLC7A9. Disease: cystinuria

scientific article published on 01 December 2007

Novel human pathological mutations. Gene symbol: SLC7A9. Disease: cystinuria

scientific article published on 01 April 2010

Novel human pathological mutations. Gene symbol: SLC7A9. Disease: cystinuria

Novel human pathological mutations. Gene symbol: SLC7A9. Disease: cystinuria

scientific article published in December 2007

Novel human pathological mutations. Gene symbol: SLC7A9. Disease: cystinuria

Novel human pathological mutations. Gene symbol: SLC7A9. Disease: cystinuria

Phenotype characterization and prevalence of rBAT M467T mutation in Italian cystinuric patients

scientific article published on 01 January 1996

Polymorphism of motilin gene in patients with Crohn's disease

scientific article published on 01 April 1998

Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients

scientific article published on 8 May 2012

Posttransplant Recurrence of Proteinuria in a Case of Focal Segmental Glomerulosclerosis Associated with WT1 Mutation

scientific article published on 19 June 2006

Recombinant families locate the gene for non-type I cystinuria between markers C13 and D19S587 on chromosome 19q13.1.

scientific article published in September 1999

Role of interferon-gamma gene polymorphisms in susceptibility to IgA nephropathy: a family-based association study

scientific article published on 01 April 2006

Stability and functional effectiveness of phosphorothioate modified duplex DNA and synthetic 'mini-genes'.

scientific article

The IgA nephropathy Biobank. An important starting point for the genetic dissection of a complex trait.

scientific article

The missing ApoE allele

scientific article published on 22 January 2007

The motilin gene: subregional localisation, tissue expression, DNA polymorphisms and exclusion as a candidate gene for the HLA-associated immotile cilia syndrome

scientific article published on 01 December 1994

The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome

scientific article

Twenty-four novel mutations identified in a cohort of 85 patients by direct sequencing of the SLC3A1 and SLC7A9 cystinuria genes

scientific article published on 01 September 2008

VSX1 mutational analysis in a series of Italian patients affected by keratoconus: detection of a novel mutation

scientific article

WT1 mutations in nephrotic syndrome revisited. High prevalence in young girls, associations and renal phenotypes

[A genetic viewpoint of focal glomerular sclerosis: fom genes to glomerular pathophysiology [corrected]]

scientific article published on 01 July 2003