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Avascular necrosis of the femoral head due to a novel C propeptide mutation in COL2A1

American journal of medical genetics. Part A, 2011-07, Vol.155A (7), p.1759-1762

2011

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The Collagenopathies: Review of Clinical Phenotypes and Molecular Correlations

Current rheumatology reports, 2014, Vol.16 (1), p.394-394, Article 394

2014

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The role of sequence variations within the genes encoding collagen II, IX and XI in non-syndromic, early-onset osteoarthritis

Osteoarthritis and cartilage, 2005-06, Vol.13 (6), p.497-507

2005

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Phenotypic and population differences in the association between CILP and lumbar disc disease

Journal of medical genetics, 2007-04, Vol.44 (4), p.285-288

2007

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Association between sequence variations in genes encoding human zona pellucida glycoproteins and fertilization failure in IVF

Human reproduction (Oxford), 2005-06, Vol.20 (6), p.1578-1585

2005

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First-stage autosomal genome screen in extended pedigrees suggests genes predisposing to low bone mineral density on chromosomes 1p, 2p and 4q

European journal of human genetics : EJHG, 1998-03, Vol.6 (2), p.151-157

1998

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Targeted re-sequencing of linkage region on 2q21 identifies a novel functional variant for hip and knee osteoarthritis

Osteoarthritis and cartilage, 2016-04, Vol.24 (4), p.655-663

2016

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Sequence variations in the collagen IX and XI genes are associated with degenerative lumbar spinal stenosis

Annals of the rheumatic diseases, 2003-12, Vol.62 (12), p.1208-1214

2003

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Stop Codon in the Procollagen II Gene (COL2A1) in a Family with the Stickler Syndrome (Arthro-Ophthalmopathy)

Proceedings of the National Academy of Sciences - PNAS, 1991-08, Vol.88 (15), p.6624-6627

1991

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Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions

Journal of medical genetics, 2002-01, Vol.39 (1), p.34-41

2002

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Genetic risk factors for lumbar disc disease

Annals of medicine (Helsinki), 2002, Vol.34 (1), p.42-47

Ala-Kokko, Leena

2002

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Aggrecan core protein of a certain length is protective against hand osteoarthritis

Osteoarthritis and cartilage, 2006-10, Vol.14 (10), p.1075-1080

2006

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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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Expression of a Partially Deleted Gene of Human Type II Procollagen (COL2A1) in Transgenic Mice Produces a Chondrodysplasia

Proceedings of the National Academy of Sciences - PNAS, 1991-09, Vol.88 (17), p.7640-7644

1991

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Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity

BMC medical genetics, 2012-04, Vol.13 (1), p.26-26, Article 26

2012

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Structure of cDNA clones coding for the entire preproα1 (III) chain of human type III procollagen. Differences in protein structure from type I procollagen and conservation of codon preferences

Biochemical journal, 1989-06, Vol.260 (2), p.509-516

1989

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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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Heterozygous Mutations in the LDL Receptor‐Related Protein 5 (LRP5) Gene Are Associated With Primary Osteoporosis in Children

Journal of bone and mineral research, 2005-05, Vol.20 (5), p.783-789

2005

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cDNA cloning, genomic organization and expression of the novel human metallophosphoesterase gene MPPE1 on chromosome 18p11.2

Cytogenetic and genome research, 2001-01, Vol.95 (1-2), p.60-63

2001

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Genetic linkage of familial granulomatous inflammatory arthritis, skin rash, and uveitis to chromosome 16

American journal of human genetics, 1996-11, Vol.59 (5), p.1097-1107

1996

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Altered Integration of Matrilin-3 into Cartilage Extracellular Matrix in the Absence of Collagen IX

Molecular and Cellular Biology, 2005-12, Vol.25 (23), p.10465-10478

2005

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A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations

Journal of medical genetics, 2003-12, Vol.40 (12), p.942-948

2003

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Interleukin 1 Polymorphisms and Intervertebral Disc Degeneration

Epidemiology (Cambridge, Mass.), 2004-09, Vol.15 (5), p.626-633

2004

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A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders

The Journal of clinical investigation, 2005-05, Vol.115 (5), p.1250-1257

2005

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Genetic variations in IL6 associate with intervertebral disc disease characterized by sciatica

Pain (Amsterdam), 2005-03, Vol.114 (1), p.186-194

2005

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Avascular necrosis of the femoral head due to a novel C propeptide mutation in COL2A1

The Collagenopathies: Review of Clinical Phenotypes and Molecular Correlations

The role of sequence variations within the genes encoding collagen II, IX and XI in non-syndromic, early-onset osteoarthritis

Phenotypic and population differences in the association between CILP and lumbar disc disease

Association between sequence variations in genes encoding human zona pellucida glycoproteins and fertilization failure in IVF

First-stage autosomal genome screen in extended pedigrees suggests genes predisposing to low bone mineral density on chromosomes 1p, 2p and 4q

Targeted re-sequencing of linkage region on 2q21 identifies a novel functional variant for hip and knee osteoarthritis

Sequence variations in the collagen IX and XI genes are associated with degenerative lumbar spinal stenosis

Stop Codon in the Procollagen II Gene (COL2A1) in a Family with the Stickler Syndrome (Arthro-Ophthalmopathy)

Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions

Genetic risk factors for lumbar disc disease

Aggrecan core protein of a certain length is protective against hand osteoarthritis

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

Expression of a Partially Deleted Gene of Human Type II Procollagen (COL2A1) in Transgenic Mice Produces a Chondrodysplasia

Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity

Structure of cDNA clones coding for the entire preproα1 (III) chain of human type III procollagen. Differences in protein structure from type I procollagen and conservation of codon preferences

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

Heterozygous Mutations in the LDL Receptor‐Related Protein 5 (LRP5) Gene Are Associated With Primary Osteoporosis in Children

cDNA cloning, genomic organization and expression of the novel human metallophosphoesterase gene MPPE1 on chromosome 18p11.2

Genetic linkage of familial granulomatous inflammatory arthritis, skin rash, and uveitis to chromosome 16

Altered Integration of Matrilin-3 into Cartilage Extracellular Matrix in the Absence of Collagen IX

A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations

Interleukin 1 Polymorphisms and Intervertebral Disc Degeneration

A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders

Genetic variations in IL6 associate with intervertebral disc disease characterized by sciatica

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