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Mutations Involving the Transcription Factor CBFA1 Cause Cleidocranial Dysplasia

Cell, 1997-05, Vol.89 (5), p.773-779

1997

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Constitutively Activated Receptors for Parathyroid Hormone and Parathyroid Hormone–Related Peptide in Jansen's Metaphyseal Chondrodysplasia

The New England journal of medicine, 1996-09, Vol.335 (10), p.708-714

1996

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Effects of retention harvests on structure of old-growth Pinus strobus L. stands in Ontario

Forest ecology and management, 2005-02, Vol.205 (1), p.91-103

2005

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Three patients with osteoporosis-pseudoglioma syndrome (OPPG) due to novel splice site mutations in LRP5

BONE, 2009, Vol.45, p.S109-S109

2009

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Probabilities of small-gap capture by sugar maple saplings based on height and crown growth data from felled trees

Canadian journal of forest research, 2005-03, Vol.35 (3), p.643-655

2005

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Missense mutations in the β strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia

Journal of medical genetics, 2004-01, Vol.41 (1), p.52-59

2004

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The Molecular Basis of X-Linked Spondyloepiphyseal Dysplasia Tarda

American journal of human genetics, 2001-06, Vol.68 (6), p.1386-1397

2001

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Heparan sulfate abnormalities in exostosis growth plates

Bone (New York, N.Y.), 2002-07, Vol.31 (1), p.199-204

2002

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Flexion supracondylar fractures of the humerus in children: treatment by manipulation and extension cast

Injury, 1991-11, Vol.22 (6), p.451-455

1991

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TGF_β2 forms a complex with type X collagen

Matrix biology, 2006-11, Vol.25, p.S68-S68

2006

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Genetic changes in the RNA components of RNase MRP and RNase P in Schmid metaphyseal chondrodysplasia

Journal of medical genetics, 2003-10, Vol.40 (10), p.741-746

2003

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Characterization of an arginine 789 to cysteine substitution in alpha 1 (II) collagen chains of a patient with spondyloepiphyseal dysplasia

The Journal of biological chemistry, 1993-07, Vol.268 (20), p.15238-15245

1993

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Effect of early hip decompression on the frequency of avascular necrosis in children with fractures of the neck of the femur

Injury, 1996-07, Vol.27 (6), p.419-421

1996

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Predicting tree growth from crown variables in managed northern hardwood stands

Forest ecology and management, 1994-08, Vol.67 (1), p.159-175

1994

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Isolated fractures of the lesser trochanter in children

Injury, 1997-06, Vol.28 (5), p.363-364

1997

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Bone transplantation

Medical journal of Australia, 1990-02, Vol.152 (4), p.219-219

Cole, W.G.

1990

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Low basal transcription of genes for tissue-specific collagens by fibroblasts and lymphoblastoid cells. Application to the characterization of a glycine 997 to serine substitution in alpha 1(II) collagen chains of a patient with spondyloepiphyseal dysplasia

The Journal of biological chemistry, 1991-07, Vol.266 (19), p.12487-12494

1991

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Osteogenesis imperfecta due to a novel heterozygous G1006A substitution in the α2(I) chain of type I collagen

Matrix biology, 1994-09, Vol.14 (5), p.387-387

1994

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Recessive multiple epiphyseal dysplasia

Journal of medical genetics, 2003-01, Vol.40 (1), p.65

2003

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A Novel Col1A1 Mutation in Infantile Cortical Hyperostosis (Caffey Disease) Expands the Spectrum of Collagen-Related Disorders

Journal of investigative medicine, 2005-01, Vol.53 (1_part_4), p.272-272

2005

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Regulation of procollagen synthesis and processing during ascorbate-induced extracellular matrix accumulation in vitro

Biochemical journal, 1990-07, Vol.269 (1), p.175-181

1990

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Skeletal dysplasias and disorders of cartilage matrix

Pathology, 1992, Vol.24, p.26-26

1992

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(i) The challenge of genetics

Current orthopaedics, 2000-01, Vol.14 (1), p.1-6

Cole, W.G.

2000

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Acrogeric Ehlers-Danlos type IV due to a novel heterozygous G499D substitution in the α1(III) chain of type III collagen

Matrix biology, 1994-09, Vol.14 (5), p.393-393

1994

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A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of pro-α1(V) chains results in the gravis form of the ehlers-danlos syndrome (Type 1)

Matrix biology, 1996-09, Vol.15 (3), p.174-174

1996

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Mutations Involving the Transcription Factor CBFA1 Cause Cleidocranial Dysplasia

Constitutively Activated Receptors for Parathyroid Hormone and Parathyroid Hormone–Related Peptide in Jansen's Metaphyseal Chondrodysplasia

Effects of retention harvests on structure of old-growth Pinus strobus L. stands in Ontario

Three patients with osteoporosis-pseudoglioma syndrome (OPPG) due to novel splice site mutations in LRP5

Probabilities of small-gap capture by sugar maple saplings based on height and crown growth data from felled trees

Missense mutations in the β strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia

The Molecular Basis of X-Linked Spondyloepiphyseal Dysplasia Tarda

Heparan sulfate abnormalities in exostosis growth plates

Flexion supracondylar fractures of the humerus in children: treatment by manipulation and extension cast

TGF_β2 forms a complex with type X collagen

Genetic changes in the RNA components of RNase MRP and RNase P in Schmid metaphyseal chondrodysplasia

Characterization of an arginine 789 to cysteine substitution in alpha 1 (II) collagen chains of a patient with spondyloepiphyseal dysplasia

Effect of early hip decompression on the frequency of avascular necrosis in children with fractures of the neck of the femur

Predicting tree growth from crown variables in managed northern hardwood stands

Isolated fractures of the lesser trochanter in children

Bone transplantation

Low basal transcription of genes for tissue-specific collagens by fibroblasts and lymphoblastoid cells. Application to the characterization of a glycine 997 to serine substitution in alpha 1(II) collagen chains of a patient with spondyloepiphyseal dysplasia

Osteogenesis imperfecta due to a novel heterozygous G1006A substitution in the α2(I) chain of type I collagen

Recessive multiple epiphyseal dysplasia

A Novel Col1A1 Mutation in Infantile Cortical Hyperostosis (Caffey Disease) Expands the Spectrum of Collagen-Related Disorders

Regulation of procollagen synthesis and processing during ascorbate-induced extracellular matrix accumulation in vitro

Skeletal dysplasias and disorders of cartilage matrix

(i) The challenge of genetics

Acrogeric Ehlers-Danlos type IV due to a novel heterozygous G499D substitution in the α1(III) chain of type III collagen

A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of pro-α1(V) chains results in the gravis form of the ehlers-danlos syndrome (Type 1)

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