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De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy

Journal of medical genetics, 2015-05, Vol.52 (5), p.330-337

2015

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In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome

Journal of medical genetics, 2003-01, Vol.40 (1), p.34-36

2003

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Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation

Journal of medical genetics, 2001-03, Vol.38 (3), p.151-158

2001

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A new gene (DYX3) for dyslexia is located on chromosome 2

Journal of medical genetics, 1999-09, Vol.36 (9), p.664-669

1999

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A genome wide scan for familial high myopia suggests a novel locus on chromosome 7q36

Journal of medical genetics, 2002-02, Vol.39 (2), p.118-124

2002

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Homozygosity mapping of a third Joubert syndrome locus to 6q23

Journal of medical genetics, 2004-04, Vol.41 (4), p.273-277

2004

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A fifth locus for otosclerosis, OTSC5, maps to chromosome 3q22–24

Journal of medical genetics, 2004-06, Vol.41 (6), p.450-453

2004

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Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11

Journal of medical genetics, 2005-03, Vol.42 (3), p.260-265

2005

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Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13

Journal of medical genetics, 2003-10, Vol.40 (10), p.747-751

2003

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A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss

Journal of medical genetics, 2000-05, Vol.37 (5), p.368-370

2000

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Two translocations of chromosome 15q associated with dyslexia

Journal of medical genetics, 2000-10, Vol.37 (10), p.771-775

2000

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Molecular genetic analysis of the NF2 gene in young patients with unilateral vestibular schwannomas

Journal of medical genetics, 2002-05, Vol.39 (5), p.315-322

2002

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A locus for primary ciliary dyskinesia maps to chromosome 19q

Journal of medical genetics, 2000-04, Vol.37 (4), p.241-244

2000

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A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25

Journal of medical genetics, 2000-09, Vol.37 (9), p.663-668

2000

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Somatic mosaicism in neurofibromatosis 2: prevalence and risk of disease transmission to offspring

Journal of medical genetics, 2003-06, Vol.40 (6), p.459-463

2003

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Double heterozygosity for mutations in the β-myosin heavy chain and in the cardiac myosin binding protein C genes in a family with hypertrophic cardiomyopathy

Journal of medical genetics, 1999-07, Vol.36 (7), p.542-545

1999

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Linkage to 18qter differentiates two clinically overlapping syndromes: congenital cataracts-facial dysmorphism-neuropathy (CCFDN) syndrome and Marinesco-Sjögren syndrome

Journal of medical genetics, 2002-11, Vol.39 (11), p.838-843

2002

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A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients

Journal of medical genetics, 2003-01, Vol.40 (1), p.11-17

2003

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Modifier controls severity of a novel dominant low-frequency MyosinVIIA (MYO7A) auditory mutation

Journal of medical genetics, 2004-05, Vol.41 (5), p.e62-e62

2004

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The first three mosaic cri du chat syndrome patients with two rearranged cell lines

Journal of medical genetics, 2000-12, Vol.37 (12), p.967-972

2000

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A locus for isolated cataract on human Xp

Journal of medical genetics, 2002-02, Vol.39 (2), p.105-109

2002

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A gene for autosomal dominant hearing impairment (DFNA14) maps to a region on chromosome 4p16.3 that does not overlap the DFNA6 locus

Journal of medical genetics, 1999-07, Vol.36 (7), p.532-536

1999

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A novel locus on 19q13 associated with autosomal-dominant macular dystrophy in a large Greek family

Journal of medical genetics, 2006-12, Vol.43 (12), p.e57-e57

2006

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Vitreoretinopathy with phalangeal epiphyseal dysplasia, a type II collagenopathy resulting from a novel mutation in the C-propeptide region of the molecule

Journal of medical genetics, 2002-09, Vol.39 (9), p.661-665

2002

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The small patella syndrome: description of five cases from three families and examination of possible allelism with familial patella aplasia-hypoplasia and nail-patella syndrome

Journal of medical genetics, 2001-03, Vol.38 (3), p.209-213

2001

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De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy

In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome

Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation

A new gene (DYX3) for dyslexia is located on chromosome 2

A genome wide scan for familial high myopia suggests a novel locus on chromosome 7q36

Homozygosity mapping of a third Joubert syndrome locus to 6q23

A fifth locus for otosclerosis, OTSC5, maps to chromosome 3q22–24

Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11

Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13

A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss

Two translocations of chromosome 15q associated with dyslexia

Molecular genetic analysis of the NF2 gene in young patients with unilateral vestibular schwannomas

A locus for primary ciliary dyskinesia maps to chromosome 19q

A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25

Somatic mosaicism in neurofibromatosis 2: prevalence and risk of disease transmission to offspring

Double heterozygosity for mutations in the β-myosin heavy chain and in the cardiac myosin binding protein C genes in a family with hypertrophic cardiomyopathy

Linkage to 18qter differentiates two clinically overlapping syndromes: congenital cataracts-facial dysmorphism-neuropathy (CCFDN) syndrome and Marinesco-Sjögren syndrome

A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients

Modifier controls severity of a novel dominant low-frequency MyosinVIIA (MYO7A) auditory mutation

The first three mosaic cri du chat syndrome patients with two rearranged cell lines

A locus for isolated cataract on human Xp

A gene for autosomal dominant hearing impairment (DFNA14) maps to a region on chromosome 4p16.3 that does not overlap the DFNA6 locus

A novel locus on 19q13 associated with autosomal-dominant macular dystrophy in a large Greek family

Vitreoretinopathy with phalangeal epiphyseal dysplasia, a type II collagenopathy resulting from a novel mutation in the C-propeptide region of the molecule

The small patella syndrome: description of five cases from three families and examination of possible allelism with familial patella aplasia-hypoplasia and nail-patella syndrome

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