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Nosology and classification of genetic skeletal disorders: 2010 revision

American journal of medical genetics. Part A, 2011-05, Vol.155A (5), p.943-968

2011

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Cyclic loading increases friction and changes cartilage surface integrity in lubricin-mutant mouse knees

Arthritis & rheumatology (Hoboken, N.J.), 2012-02, Vol.64 (2), p.465-473

2012

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Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia

Nature genetics, 1999-09, Vol.23 (1), p.94-98

1999

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Six Novel Missense Mutations in the LDL Receptor-Related Protein 5 ( LRP5) Gene in Different Conditions with an Increased Bone Density

American journal of human genetics, 2003-03, Vol.72 (3), p.763-771

2003

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A mutation in the gene encoding the α2 chain of the fibril-associated collagen IX, COL9A2 , causes multiple epiphyseal dysplasia (EDM2)

Nature genetics, 1996-01, Vol.12 (1), p.103-105

1996

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Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis

Nature genetics, 1999-03, Vol.21 (3), p.302-304

1999

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Splicing Mutations of 54-bp Exons in the COL11A1 Gene Cause Marshall Syndrome, but Other Mutations Cause Overlapping Marshall/Stickler Phenotypes

American journal of human genetics, 1999-10, Vol.65 (4), p.974-983

1999

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Intravenous bisphosphonate therapy in children with osteogenesis imperfecta

Pediatrics (Evanston), 2003-03, Vol.111 (3), p.573-578

2003

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Loss of cartilage structure, stiffness, and frictional properties in mice lacking PRG4

Arthritis and rheumatism, 2010-06, Vol.62 (6), p.1666-1674

2010

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Association between friction and wear in diarthrodial joints lacking lubricin

Arthritis and rheumatism, 2007-11, Vol.56 (11), p.3662-3669

2007

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Synovial fibroblasts self‐direct multicellular lining architecture and synthetic function in three‐dimensional organ culture

Arthritis and rheumatism, 2010-03, Vol.62 (3), p.742-752

2010

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Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the α2(XI) chain of type XI collagen

The Journal of pediatrics, 1998-02, Vol.132 (2), p.368-371

1998

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Human genetic insights into skeletal development, growth, and homeostasis

Clinical orthopaedics and related research, 2000-10, Vol.379 (379), p.S40-S54

WARMAN, Matthew L

2000

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Clinical and Molecular Findings in Osteoporosis-Pseudoglioma Syndrome

American journal of human genetics, 2005-11, Vol.77 (5), p.741-753

2005

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Marshall Syndrome Associated with a Splicing Defect at the COL11A1 Locus

American journal of human genetics, 1998-04, Vol.62 (4), p.816-823

1998

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Autosomal Recessive Disorder Otospondylomegaepiphyseal Dysplasia Is Associated with Loss-of-Function Mutations in the COL11A2 Gene

American journal of human genetics, 2000-02, Vol.66 (2), p.368-377

2000

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The camptodactyly‐arthropathy‐coxa vara‐pericarditis syndrome: Clinical features and genetic mapping to human chromosome 1

Arthritis and rheumatism, 1998-04, Vol.41 (4), p.730-735

1998

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Brachydactyly Type B: Clinical Description, Genetic Mapping to Chromosome 9q, and Evidence for a Shared Ancestral Mutation

American journal of human genetics, 1999-02, Vol.64 (2), p.570-577

1999

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Acromesomelic Dysplasia Maroteaux Type Maps to Human Chromosome 9

American journal of human genetics, 1998-07, Vol.63 (1), p.155-162

1998

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Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM2) to a region of chromosome I containing a type IX collagen gene

American journal of human genetics, 1994-10, Vol.55 (4), p.678-684

1994

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Assignment of a gene locus involved in craniosynostosis to chromosome 5qter

Human molecular genetics, 1993-02, Vol.2 (2), p.119-122

1993

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A large family with features of pseudoachondroplasia and multiple epiphyseal dysplasia : exclusion of seven candidate gene loci that encode proteins of the cartilage extracellular matrix

Human genetics, 1994-03, Vol.93 (3), p.236-242

1994

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Genetic Heterogeneity among Craniosynostosis Syndromes: Mapping the Saethre-Chotzen Syndrome Locus between D7S513 and D7S516 and Exclusion of Jackson-Weiss and Crouzon Syndrome Loci from 7p

Genomics (San Diego, Calif.), 1994-01, Vol.19 (1), p.115-119

1994

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The mutational spectrum of brachydactyly type C

American journal of medical genetics, 2002-10, Vol.112 (3), p.291-296

2002

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Clinical and molecular studies of brachydactyly type D

American journal of medical genetics, 1999-08, Vol.85 (4), p.413-418

1999

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Nosology and classification of genetic skeletal disorders: 2010 revision

Cyclic loading increases friction and changes cartilage surface integrity in lubricin-mutant mouse knees

Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia

Six Novel Missense Mutations in the LDL Receptor-Related Protein 5 ( LRP5) Gene in Different Conditions with an Increased Bone Density

A mutation in the gene encoding the α2 chain of the fibril-associated collagen IX, COL9A2 , causes multiple epiphyseal dysplasia (EDM2)

Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis

Splicing Mutations of 54-bp Exons in the COL11A1 Gene Cause Marshall Syndrome, but Other Mutations Cause Overlapping Marshall/Stickler Phenotypes

Intravenous bisphosphonate therapy in children with osteogenesis imperfecta

Loss of cartilage structure, stiffness, and frictional properties in mice lacking PRG4

Association between friction and wear in diarthrodial joints lacking lubricin

Synovial fibroblasts self‐direct multicellular lining architecture and synthetic function in three‐dimensional organ culture

Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the α2(XI) chain of type XI collagen

Human genetic insights into skeletal development, growth, and homeostasis

Clinical and Molecular Findings in Osteoporosis-Pseudoglioma Syndrome

Marshall Syndrome Associated with a Splicing Defect at the COL11A1 Locus

Autosomal Recessive Disorder Otospondylomegaepiphyseal Dysplasia Is Associated with Loss-of-Function Mutations in the COL11A2 Gene

The camptodactyly‐arthropathy‐coxa vara‐pericarditis syndrome: Clinical features and genetic mapping to human chromosome 1

Brachydactyly Type B: Clinical Description, Genetic Mapping to Chromosome 9q, and Evidence for a Shared Ancestral Mutation

Acromesomelic Dysplasia Maroteaux Type Maps to Human Chromosome 9

Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM2) to a region of chromosome I containing a type IX collagen gene

Assignment of a gene locus involved in craniosynostosis to chromosome 5qter

A large family with features of pseudoachondroplasia and multiple epiphyseal dysplasia : exclusion of seven candidate gene loci that encode proteins of the cartilage extracellular matrix

Genetic Heterogeneity among Craniosynostosis Syndromes: Mapping the Saethre-Chotzen Syndrome Locus between D7S513 and D7S516 and Exclusion of Jackson-Weiss and Crouzon Syndrome Loci from 7p

The mutational spectrum of brachydactyly type C

Clinical and molecular studies of brachydactyly type D

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