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Nosology of genetic skeletal disorders: 2023 revision

American journal of medical genetics. Part A, 2023-05, Vol.191 (5), p.1164-1209

2023

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Procollagen II amino propeptide processing by ADAMTS-3. Insights on dermatosparaxis

The Journal of biological chemistry, 2001-08, Vol.276 (34), p.31502-31509

2001

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Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis

Nature genetics, 2004-04, Vol.36 (4), p.405-410

2004

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Human Ehlers-Danlos Syndrome Type VII C and Bovine Dermatosparaxis Are Caused by Mutations in the Procollagen I N-Proteinase Gene

American journal of human genetics, 1999-08, Vol.65 (2), p.308-317

1999

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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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Mutations in FLNB cause boomerang dysplasia

Journal of medical genetics, 2005-07, Vol.42 (7), p.e43-e43

2005

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Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene

Nature genetics, 1995-07, Vol.10 (3), p.330-336

1995

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Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3

Nature genetics, 1995-03, Vol.9 (3), p.321-328

1995

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Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse

Nature genetics, 1998-10, Vol.20 (2), p.157-162

1998

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Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W

Journal of medical genetics, 2003-01, Vol.40 (1), p.65-71

2003

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Mental Retardation and Abnormal Skeletal Development (Dyggve-Melchior-Clausen Dysplasia) Due to Mutations in a Novel, Evolutionarily Conserved Gene

American journal of human genetics, 2003-02, Vol.72 (2), p.419-428

2003

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Exome sequencing for disease gene discovery in Jeune’s Asphyxiating Thoracic Dystrophy

Cilia (London), 2012-11, Vol.1 (S1), p.P105-P105, Article P105

2012

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Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene

Nature genetics, 1996-01, Vol.12 (1), p.100-102

1996

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Fine mapping of the X-linked split-hand/split-foot malformation (SHFM2) locus to a 5.1-Mb region on Xq26.3 and analysis of candidate genes

Clinical genetics, 2005-01, Vol.67 (1), p.93-97

2005

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Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST) : Evidence for a phenotypic series involving three chondrodysplasias

American journal of human genetics, 1996-02, Vol.58 (2), p.255-262

1996

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Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome)

Clinical genetics, 2002-06, Vol.61 (6), p.454-458

2002

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MED, COMP, multilayered and NEIN: an overview of multiple epiphyseal dysplasia

Pediatric radiology, 2005-02, Vol.35 (2), p.116-123

2005

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Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia

European journal of human genetics : EJHG, 2003-03, Vol.11 (3), p.265-270

2003

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Diverse Mutations in the Gene for Cartilage Oligomeric Matrix Protein in the Pseudoachondroplasia–Multiple Epiphyseal Dysplasia Disease Spectrum

American journal of human genetics, 1998-02, Vol.62 (2), p.311-319

1998

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A type X collagen mutation causes Schmid metaphyseal chondrodysplasia

Nature genetics, 1993-09, Vol.5 (1), p.79-82

1993

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Trinucleotide Expansion Mutations in the Cartilage Oligomeric Matrix Protein (Comp) Gene

Human molecular genetics, 1999-01, Vol.8 (1), p.123-128

1999

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A Locus for an Autosomal Dominant Form of Progressive Renal Failure and Hypertension at Chromosome 1q21

American journal of human genetics, 2000-09, Vol.67 (3), p.647-651

2000

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A transcriptional profile of human fetal cartilage

Matrix biology, 2004-08, Vol.23 (5), p.299-307

2004

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Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder

Journal of medical genetics, 2000-04, Vol.37 (4), p.263-271

2000

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Physiological and Pathological Secretion of Cartilage Oligomeric Matrix Protein by Cells in Culture

The Journal of biological chemistry, 1998-10, Vol.273 (41), p.26692-26697

1998

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Nosology of genetic skeletal disorders: 2023 revision

Procollagen II amino propeptide processing by ADAMTS-3. Insights on dermatosparaxis

Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis

Human Ehlers-Danlos Syndrome Type VII C and Bovine Dermatosparaxis Are Caused by Mutations in the Procollagen I N-Proteinase Gene

Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis

Mutations in FLNB cause boomerang dysplasia

Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene

Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3

Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse

Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W

Mental Retardation and Abnormal Skeletal Development (Dyggve-Melchior-Clausen Dysplasia) Due to Mutations in a Novel, Evolutionarily Conserved Gene

Exome sequencing for disease gene discovery in Jeune’s Asphyxiating Thoracic Dystrophy

Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene

Fine mapping of the X-linked split-hand/split-foot malformation (SHFM2) locus to a 5.1-Mb region on Xq26.3 and analysis of candidate genes

Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST) : Evidence for a phenotypic series involving three chondrodysplasias

Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome)

MED, COMP, multilayered and NEIN: an overview of multiple epiphyseal dysplasia

Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia

Diverse Mutations in the Gene for Cartilage Oligomeric Matrix Protein in the Pseudoachondroplasia–Multiple Epiphyseal Dysplasia Disease Spectrum

A type X collagen mutation causes Schmid metaphyseal chondrodysplasia

Trinucleotide Expansion Mutations in the Cartilage Oligomeric Matrix Protein (Comp) Gene

A Locus for an Autosomal Dominant Form of Progressive Renal Failure and Hypertension at Chromosome 1q21

A transcriptional profile of human fetal cartilage

Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder

Physiological and Pathological Secretion of Cartilage Oligomeric Matrix Protein by Cells in Culture

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