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Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotype

Annals of neurology, 1999-06, Vol.45 (6), p.751-757

1999

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Direct detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy (FSHD)

Journal of medical genetics, 1996-05, Vol.33 (5), p.361-365

1996

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FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients

Journal of medical genetics, 2004-11, Vol.41 (11), p.826-836

2004

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Sequence Homology between 4qter and 10qter Loci Facilitates the Instability of Subtelomeric KpnI Repeat Units Implicated in Facioscapulohumeral Muscular Dystrophy

American journal of human genetics, 1998-07, Vol.63 (1), p.181-190

1998

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Physical mapping evidence for a duplicated region on chromosome 10qter showing high homology with the facioscapulohumeral muscular dystrophy locus on chromosome 4qter

European journal of human genetics : EJHG, 1995, Vol.3 (3), p.155-167

1995

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A new dosage test for subtelomeric 4;10 translocations improves conventional diagnosis of facioscapulohumeral muscular dystrophy (FSHD)

Journal of medical genetics, 1999-11, Vol.36 (11), p.823-828

1999

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De Novo Facioscapulohumeral Muscular Dystrophy: Frequent Somatic Mosaicism, Sex-Dependent Phenotype, and the Role of Mitotic Transchromosomal Repeat Interaction between Chromosomes 4 and 10

American journal of human genetics, 2000-01, Vol.66 (1), p.26-35

2000

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An archaeal endoribonuclease catalyzes cis - and trans - nonspliceosomal splicing in mouse cells

Nature biotechnology, 2003-12, Vol.21 (12), p.1499-1504

2003

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Interchromosomal repeat array interactions between chromosomes 4 and 10: a model for subtelomeric plasticity

Human molecular genetics, 2000-11, Vol.9 (19), p.2879-2884

2000

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4q35 molecular probes for the diagnosis and genetic counseling of facioscapulohumeral muscular dystrophy

Annals of neurology, 1994-07, Vol.36 (1), p.117-118

1994

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Inter-and Intrachromosomal Sub-Telomeric Rearrangements on 4q35: Implications for Facioscapulohumeral Muscular Dystrophy (FSHD) Aetiology and Diagnosis

Human molecular genetics, 1998-08, Vol.7 (8), p.1207-1214

1998

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Molecular characterization of β-thalassemia mutations in Egypt

Human genetics, 1990-08, Vol.85 (3), p.272-274

1990

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Detection of alpha-globin gene disorders by a simple PCR methodology

Haematologica (Roma), 1996-09, Vol.81 (5), p.387

1996

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A new β‐thalassaemia frameshift mutation detected by PCR after selective hybridization to immobilized oligonucleotides

British journal of haematology, 1991-09, Vol.79 (1), p.90-92

1991

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FRG1P is localised in the nucleolus, Cajal bodies, and speckles

Journal of medical genetics, 2004-04, Vol.41 (4), p.e46-e46

2004

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Silent thalassemias: genotypes and phenotypes

Haematologica (Roma), 1997-05, Vol.82 (3), p.269

1997

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A New β-Thalassemia Mutation Produced by a Single Nucleotide Substitution in the Conserved Dinucleotide Sequence of the IVS-I Consensus Acceptor Site (Ag→AA)

Hemoglobin, 1990, Vol.14 (4), p.431-440

1990

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Phenotypes of individuals with a beta thal classical allele associated either with a beta thal silent allele or with alpha globin gene triplication

Haematologica (Roma), 1997-09, Vol.82 (5), p.513

1997

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Molecular analysis of 4q35 rearrangements in fascioscapulohumeral muscular dystrophy (FSHD): application to family studies for a correct genetic advice and a reliable prenatal diagnosis of the disease

Neuromuscular disorders : NMD, 1999-05, Vol.9 (3), p.190-198

1999

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Analysis of beta-thalassemia mutations in the United Arab Emirates provides evidence for recurrent origin of the IVSI nt 5 (G-C) mutation

Human mutation, 1995, Vol.5 (4), p.327-328

1995

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Chromosome 4q35 haplotypes and DNA rearrangements segregating in affected subjects of 19 Italian families with facioscapulohumeral muscular dystrophy (FSHD)

Human genetics, 1994-10, Vol.94 (4), p.367-374

1994

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Developments in the last 10 years in diagnostic imaging discovery of renal carcinoma

Archivio italiano di urologia, andrologia, 1996-12, Vol.68 (5 Suppl), p.49

1996

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Urologic applications of intralaparoscopic echography

Archivio italiano di urologia, andrologia, 1994-09, Vol.66 (4 Suppl), p.139

1994

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The role of echography in the intraoperative study of non-palpable testicular masses

Archivio italiano di urologia, andrologia, 1993-08, Vol.65 (4), p.369

1993

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Frequency and molecular types of deletional alpha-thalassemia in Egypt

Human genetics, 1989-02, Vol.81 (3), p.211-213

1989

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Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotype

Direct detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy (FSHD)

FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients

Sequence Homology between 4qter and 10qter Loci Facilitates the Instability of Subtelomeric KpnI Repeat Units Implicated in Facioscapulohumeral Muscular Dystrophy

Physical mapping evidence for a duplicated region on chromosome 10qter showing high homology with the facioscapulohumeral muscular dystrophy locus on chromosome 4qter

A new dosage test for subtelomeric 4;10 translocations improves conventional diagnosis of facioscapulohumeral muscular dystrophy (FSHD)

De Novo Facioscapulohumeral Muscular Dystrophy: Frequent Somatic Mosaicism, Sex-Dependent Phenotype, and the Role of Mitotic Transchromosomal Repeat Interaction between Chromosomes 4 and 10

An archaeal endoribonuclease catalyzes cis - and trans - nonspliceosomal splicing in mouse cells

Interchromosomal repeat array interactions between chromosomes 4 and 10: a model for subtelomeric plasticity

4q35 molecular probes for the diagnosis and genetic counseling of facioscapulohumeral muscular dystrophy

Inter-and Intrachromosomal Sub-Telomeric Rearrangements on 4q35: Implications for Facioscapulohumeral Muscular Dystrophy (FSHD) Aetiology and Diagnosis

Molecular characterization of β-thalassemia mutations in Egypt

Detection of alpha-globin gene disorders by a simple PCR methodology

A new β‐thalassaemia frameshift mutation detected by PCR after selective hybridization to immobilized oligonucleotides

FRG1P is localised in the nucleolus, Cajal bodies, and speckles

Silent thalassemias: genotypes and phenotypes

A New β-Thalassemia Mutation Produced by a Single Nucleotide Substitution in the Conserved Dinucleotide Sequence of the IVS-I Consensus Acceptor Site (Ag→AA)

Phenotypes of individuals with a beta thal classical allele associated either with a beta thal silent allele or with alpha globin gene triplication

Molecular analysis of 4q35 rearrangements in fascioscapulohumeral muscular dystrophy (FSHD): application to family studies for a correct genetic advice and a reliable prenatal diagnosis of the disease

Analysis of beta-thalassemia mutations in the United Arab Emirates provides evidence for recurrent origin of the IVSI nt 5 (G-C) mutation

Chromosome 4q35 haplotypes and DNA rearrangements segregating in affected subjects of 19 Italian families with facioscapulohumeral muscular dystrophy (FSHD)

Developments in the last 10 years in diagnostic imaging discovery of renal carcinoma

Urologic applications of intralaparoscopic echography

The role of echography in the intraoperative study of non-palpable testicular masses

Frequency and molecular types of deletional alpha-thalassemia in Egypt

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