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Mapping the Ligand-binding Sites and Disease-associated Mutations on the Most Abundant Protein in the Human, Type I Collagen

The Journal of biological chemistry, 2002-02, Vol.277 (6), p.4223-4231

2002

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Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS

The Journal of clinical investigation, 2003-10, Vol.112 (8), p.1255-1263

2003

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Conformation Sensitive Gel Electrophoresis for Simple and Accurate Detection of Mutations: Comparison with Denaturing Gradient Gel Electrophoresis and Nucleotide Sequencing

Proceedings of the National Academy of Sciences - PNAS, 1998-02, Vol.95 (4), p.1681-1685

1998

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Procollagen with skipping of alpha 1(I) exon 41 has lower binding affinity for alpha 1(I) C-telopeptide, impaired in vitro fibrillogenesis, and altered fibril morphology

The Journal of biological chemistry, 2002-02, Vol.277 (6), p.4215-4222

2002

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Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha 1-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy)

American journal of human genetics, 1993-07, Vol.53 (1), p.55-61

1993

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Mutation in type II procollagen (COL2Al) that substitutes aspartate for glycine [alpha]l-67 and that causes cataracts and retinal detachment: Evidence for molecular heterogeneity in the Wagner Syndrome and the stickler syndrome (Arthro-Ophthalmopathy)

American journal of human genetics, 1993-07, Vol.53:1

1993

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Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis

American journal of medical genetics, 2000-05, Vol.92 (2), p.95-100

2000

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Evidence for the additivity of rare and common variant burden throughout the spectrum of intellectual disability

European journal of human genetics : EJHG, 2024-05, Vol.32 (5), p.576-583

2024

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Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita

American journal of medical genetics, 2001-11, Vol.104 (2), p.140-146

2001

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Mapping the Ligand-binding Sites and Disease-associated Mutations on the Most Abundant Protein in the Human, Type I Collagen

Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS

Conformation Sensitive Gel Electrophoresis for Simple and Accurate Detection of Mutations: Comparison with Denaturing Gradient Gel Electrophoresis and Nucleotide Sequencing

Procollagen with skipping of alpha 1(I) exon 41 has lower binding affinity for alpha 1(I) C-telopeptide, impaired in vitro fibrillogenesis, and altered fibril morphology

Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha 1-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy)

Mutation in type II procollagen (COL2Al) that substitutes aspartate for glycine [alpha]l-67 and that causes cataracts and retinal detachment: Evidence for molecular heterogeneity in the Wagner Syndrome and the stickler syndrome (Arthro-Ophthalmopathy)

Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis

Evidence for the additivity of rare and common variant burden throughout the spectrum of intellectual disability

Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans

Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita

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