(Q57667437)

Matthew A Brown

16

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Rajesh Thakker

Rajesh V Thakker

22

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Roger Cox

Roger D Cox

20

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Peter I Croucher

Peter I Croucher

17

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Rosie A Head

4

Rosie A Head

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Christopher T Esapa

1

Christopher T Esapa

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author name string

Tertius A Hough

2

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Sarah Testori

3

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Elizabeth A Crane

5

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Carol PS Chan

6

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Holly Evans

7

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JH Duncan Bassett

8

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Eugene G McNally

10

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Andrew J Carr

11

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Alan Boyde

12

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Peter GT Howell

13

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Anne Clark

14

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Graham R Williams

15

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M Andrew Nesbit

18

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Steve DM Brown

19

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Michael T Cheeseman

Journal of Bone and Mineral Research

21

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publication date

23 January 2012

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published in

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volume

27

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issue

2

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page(s)

413-428

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1 reference

A mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant high-bone-mass trait

21 January 2018

1 reference

Localization of the gene causing autosomal dominant osteopetrosis type I to chromosome 11q12-13

21 January 2018

1 reference

Mutational Analysis in X-Linked Spondyloepiphyseal Dysplasia Tarda

21 January 2018

1 reference

MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO)

21 January 2018

1 reference

Induction of specific locus mutations in mouse spermatogonial stem cells by combined chemical X-ray treatments.

21 January 2018

1 reference

A systematic, genome-wide, phenotype-driven mutagenesis programme for gene function studies in the mouse

21 January 2018

1 reference

Implementation of a large-scale ENU mutagenesis program: towards increasing the mouse mutant resource.

21 January 2018

1 reference

An ENU-induced mutation in the Ankrd11 gene results in an osteopenia-like phenotype in the mouse mutant Yoda

21 January 2018

1 reference

Novel mouse model of autosomal semidominant adult hypophosphatasia has a splice site mutation in the tissue nonspecific alkaline phosphatase gene Akp2.

21 January 2018

1 reference

The deaf mouse mutant Jeff (Jf) is a single gene model of otitis media

21 January 2018

1 reference

Role of the transcription factor sox4 in insulin secretion and impaired glucose tolerance

21 January 2018

1 reference

A new mouse model of type 2 diabetes, produced by N-ethyl-nitrosourea mutagenesis, is the result of a missense mutation in the glucokinase gene

21 January 2018

1 reference

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

21 January 2018

1 reference

Spondyloepiphyseal dysplasia congenita with absent femoral head

21 January 2018

1 reference

The phenotypic spectrum of COL2A1 mutations

21 January 2018

1 reference

Immunohistochemistry of collagen types II and X, and enzyme-histochemistry of alkaline phosphatase in the developing condylar cartilage of the fetal mouse mandible

21 January 2018

1 reference

Pyrosequencing: an accurate detection platform for single nucleotide polymorphisms

21 January 2018

1 reference

Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome

21 January 2018

1 reference

Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum

21 January 2018

1 reference

SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA

21 January 2018

1 reference

Differential staining of cartilage and bone in whole mouse fetuses by alcian blue and alizarin red S.

21 January 2018

1 reference

delta-EF1 is a negative regulator of Ihh in the developing growth plate

21 January 2018

1 reference

Sox5 and Sox6 are needed to develop and maintain source, columnar, and hypertrophic chondrocytes in the cartilage growth plate

21 January 2018

1 reference

Pancreatic beta-cell granule peptides form heteromolecular complexes which inhibit islet amyloid polypeptide fibril formation

21 January 2018

1 reference

Inhibiting Dickkopf-1 (Dkk1) removes suppression of bone formation and prevents the development of osteolytic bone disease in multiple myeloma.

21 January 2018

1 reference

Musculoskeletal responses of 2-year-old Thoroughbred horses to early training. 8. Quantitative back-scattered electron scanning electron microscopy and confocal fluorescence microscopy of the epiphysis of the third metacarpal bone

21 January 2018

1 reference

The mineralization density of iliac crest bone from children with osteogenesis imperfecta

21 January 2018

1 reference

Inhibition of chondrogenesis by Wnt gene expression in vivo and in vitro.

21 January 2018

1 reference

Comprehensive expression analysis of all Wnt genes and their major secreted antagonists during mouse limb development and cartilage differentiation.

21 January 2018

1 reference

Transgenic mice with targeted inactivation of the Col2 alpha 1 gene for collagen II develop a skeleton with membranous and periosteal bone but no endochondral bone

21 January 2018

1 reference

Estimating the number of coding mutations in genotypic- and phenotypic-driven N-ethyl-N-nitrosourea (ENU) screens

21 January 2018

1 reference

Chondroptosis: a variant of apoptotic cell death in chondrocytes?

21 January 2018

1 reference

A missense mutation in the mouse Col2a1 gene causes spondyloepiphyseal dysplasia congenita, hearing loss, and retinoschisis

21 January 2018

1 reference

Protein consequences of the Col2a1 C-propeptide mutation in the chondrodysplastic Dmm mouse

21 January 2018

1 reference

The heterozygous disproportionate micromelia (dmm) mouse: morphological changes in fetal cartilage precede postnatal dwarfism and compared with lethal homozygotes can explain the mild phenotype

21 January 2018

1 reference

Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita.

21 January 2018

1 reference

Vitreoretinopathy with phalangeal epiphyseal dysplasia, a type II collagenopathy resulting from a novel mutation in the C-propeptide region of the molecule.

21 January 2018

1 reference

Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1

21 January 2018

1 reference

Czech dysplasia metatarsal type: another type II collagen disorder

21 January 2018

1 reference

Procollagen trafficking, processing and fibrillogenesis.

21 January 2018

1 reference

The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene

21 January 2018

1 reference

Histochemical, immunofluorescence, and ultrastructural differences in fetal cartilage among three genetically distinct chondrodystrophic mice

21 January 2018

1 reference