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Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short‐rib polydactyly type I, Saldino–Noonan type

Clinical genetics, 2017-08, Vol.92 (2), p.158-165

2017

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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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Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases

Journal of medical genetics, 2009-08, Vol.46 (8), p.562-568

2009

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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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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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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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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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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 FLNB cause boomerang dysplasia

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

2005

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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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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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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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Next-generation sequencing for disorders of low and high bone mineral density

Osteoporosis international, 2013-08, Vol.24 (8), p.2253-2259

2013

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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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A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

Journal of medical genetics, 2007-02, Vol.44 (2), p.89-98

2007

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Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome

Human molecular genetics, 2008-03, Vol.17 (5), p.631-641

2008

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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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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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Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I

Human molecular genetics, 1995-11, Vol.4 (11), p.2175-2177

1995

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A locus for spondylocarpotarsal synostosis syndrome at chromosome 3p14

Journal of medical genetics, 2004-04, Vol.41 (4), p.266-269

2004

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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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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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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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Novel mutations in the EXT1 gene in two consanguineous families affected with multiple hereditary exostoses (familial osteochondromatosis)

Clinical genetics, 2004-08, Vol.66 (2), p.144-151

2004

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Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short‐rib polydactyly type I, Saldino–Noonan type

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

Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases

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

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

Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis

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

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

Mutations in FLNB cause boomerang dysplasia

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

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

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)

Next-generation sequencing for disorders of low and high bone mineral density

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

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome

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

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

Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I

A locus for spondylocarpotarsal synostosis syndrome at chromosome 3p14

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

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

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

Novel mutations in the EXT1 gene in two consanguineous families affected with multiple hereditary exostoses (familial osteochondromatosis)

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