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A Mutation in Human Keratin K6b Produces a Phenocopy of the K17 Disorder Pachyonychia Congenita Type 2

Human molecular genetics, 1998-07, Vol.7 (7), p.1143-1148

1998

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The role of nickel accumulation and epithelial cell proliferation in orthodontic treatment-induced gingival overgrowth

European journal of orthodontics, 2007-12, Vol.29 (6), p.555-558

2007

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Splicing Modulation of Integrin (β4 Pre-mRNA Carrying a Branch Point Mutation Underlies Epidermolysis Bullosa with Pyloric Atresia Undergoing Spontaneous Amelioration With Ageing

Human molecular genetics, 1999-10, Vol.8 (11), p.2097-2105

1999

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Need for a consensus on the methods by which to measure joint mobility and the definition of norms for hypermobility that reflect age, gender and ethnic-dependent variation: is revision of criteria for joint hypermobility syndrome and Ehlers-Danlos syndrome hypermobility type indicated?

Rheumatology (Oxford, England), 2011-06, Vol.50 (6), p.1169-1171

2011

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Disorganization of the Desmin Cytoskeleton and Mitochondrial Dysfunction in Plectin-Related Epidermolysis Bullosa Simplex with Muscular Dystrophy

Journal of neuropathology and experimental neurology, 2002-06, Vol.61 (6), p.520-530

2002

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Homozygous α6 Integrin Mutation in Junctional Epidermolysis Bullosa with Congenital Duodenal Atresia

Human molecular genetics, 1997-05, Vol.6 (5), p.669-674

1997

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Homozygous Deletion Mutations in the Plectin Gene (PLEC1) in Patients with Epidermolysis Bullosa Simplex Associated with Late-Onset Muscular Dystrophy

Human molecular genetics, 1996-10, Vol.5 (10), p.1539-1546

1996

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Homozygous alpha 6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresia

Human molecular genetics, 1997-05, Vol.6 (5), p.669-674

1997

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Mutational Hotspots in the LAMB3 Gene in the Lethal (Herlitz) Type of Junctional Epidermolysis Bullosa

Human molecular genetics, 1996-02, Vol.5 (2), p.231-237

1996

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Splicing modulation of integrin beta 4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageing

Human molecular genetics, 1999-10, Vol.8 (11), p.2097-2105

1999

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A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa

Human molecular genetics, 1995-05, Vol.4 (5), p.959-962

1995

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Pretibial epidermolysis bullosa: genetic linkage to COL7A1 and identification of a glycine-to-cysteine substitution in the triple-helical domain of type VII collagen

Human molecular genetics, 1995-09, Vol.4 (9), p.1579-1583

1995

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Splicing modulation of integrin beta4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageing

Human molecular genetics, 1999-10, Vol.8 (11), p.2097-2105

1999

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Altered antigenicity is seen in the lipopolysaccharide profile of non-serotypeable Actinobacillus actinomycetemcomitans strains

FEMS immunology and medical microbiology, 2000-02, Vol.27 (2), p.171-177

2000

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The large non-collagenous domain (NC-1) of type VII collagen is amino-terminal and chimeric. Homology to cartilage matrix protein, the type III domains of fibronectin and the A domains of von Willebrand factor

Human molecular genetics, 1992-10, Vol.1 (7), p.475-481

1992

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Splicing modulation of integrin [beta]4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageing

Human molecular genetics, 1999-10, Vol.8 (11), p.2097

1999

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A novel homozygous nonsense mutation in the LAMC2 gene in patients with the Herlitz junctional epidermolysis bullosa

Human molecular genetics, 1994-10, Vol.3 (10), p.1909-1910

1994

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Homozygous 6 Integrin Mutation in Junctional Epidermolysis Bullosa with Congenital Duodenal Atresia

Human molecular genetics, 1997-05, Vol.6 (5), p.669-674

1997

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Homozygous alpha6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresia

Human molecular genetics, 1997-05, Vol.6 (5), p.669-674

1997

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A homozgyous nonsense mutation in the α3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa

Human molecular genetics, 1995, Vol.4 (5), p.959-962

1995

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Altered antigenicity is seen in the lipopolysaccharide profile of non-serotypeable Actinobacillus actinomycetemcomitans strains

FEMS immunology and medical microbiology, 2000-02, Vol.27 (2), p.171-177

2000

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Effect of triiodothyronine in the metabolism of collagen in cultured embryonic bones

Endocrinology (Philadelphia), 1972-06, Vol.90 (6), p.1476-1482

1972

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A Mutation in Human Keratin K6b Produces a Phenocopy of the K17 Disorder Pachyonychia Congenita Type 2

The role of nickel accumulation and epithelial cell proliferation in orthodontic treatment-induced gingival overgrowth

Splicing Modulation of Integrin (β4 Pre-mRNA Carrying a Branch Point Mutation Underlies Epidermolysis Bullosa with Pyloric Atresia Undergoing Spontaneous Amelioration With Ageing

Need for a consensus on the methods by which to measure joint mobility and the definition of norms for hypermobility that reflect age, gender and ethnic-dependent variation: is revision of criteria for joint hypermobility syndrome and Ehlers-Danlos syndrome hypermobility type indicated?

Disorganization of the Desmin Cytoskeleton and Mitochondrial Dysfunction in Plectin-Related Epidermolysis Bullosa Simplex with Muscular Dystrophy

Homozygous α6 Integrin Mutation in Junctional Epidermolysis Bullosa with Congenital Duodenal Atresia

Homozygous Deletion Mutations in the Plectin Gene (PLEC1) in Patients with Epidermolysis Bullosa Simplex Associated with Late-Onset Muscular Dystrophy

Homozygous alpha 6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresia

Mutational Hotspots in the LAMB3 Gene in the Lethal (Herlitz) Type of Junctional Epidermolysis Bullosa

Splicing modulation of integrin beta 4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageing

A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa

Pretibial epidermolysis bullosa: genetic linkage to COL7A1 and identification of a glycine-to-cysteine substitution in the triple-helical domain of type VII collagen

Splicing modulation of integrin beta4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageing

Altered antigenicity is seen in the lipopolysaccharide profile of non-serotypeable Actinobacillus actinomycetemcomitans strains

The large non-collagenous domain (NC-1) of type VII collagen is amino-terminal and chimeric. Homology to cartilage matrix protein, the type III domains of fibronectin and the A domains of von Willebrand factor

Splicing modulation of integrin [beta]4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageing

A novel homozygous nonsense mutation in the LAMC2 gene in patients with the Herlitz junctional epidermolysis bullosa

Homozygous 6 Integrin Mutation in Junctional Epidermolysis Bullosa with Congenital Duodenal Atresia

Homozygous alpha6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresia

A homozgyous nonsense mutation in the α3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa

Altered antigenicity is seen in the lipopolysaccharide profile of non-serotypeable Actinobacillus actinomycetemcomitans strains

Effect of triiodothyronine in the metabolism of collagen in cultured embryonic bones

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