(Q44483685)

3 December 2017

title

One gene, two phenotypes: ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type B. (English)

1 reference

autosomal recessive Robinow syndrome

3 December 2017

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1 reference

Ali R Afzal

1

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3 December 2017

Steve Jeffery

series ordinal

2

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3 December 2017

language of work or name

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1 July 2003

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3 December 2017

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3 December 2017

volume

22

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3 December 2017

issue

1

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3 December 2017

page(s)

1-11

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Homeless children. Two years later.

3 December 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10233

Linkage of recessive Robinow syndrome to a 4 cM interval on chromosome 9q22

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10233

7 January 2021

Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10233

7 January 2021

Congenital heart disease in Robinow syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10233

7 January 2021

Expression of the Ror1 and Ror2 receptor tyrosine kinase genes during mouse development

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10233

7 January 2021

Detection of Mutations in Insulin Receptor Gene by Denaturing Gradient Gel Electrophoresis

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https://api.crossref.org/works/10.1002%2FHUMU.10233

7 January 2021

A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene

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https://api.crossref.org/works/10.1002%2FHUMU.10233

7 January 2021

A mutation in the tyrosine kinase domain of the insulin receptor associated with insulin resistance in an obese woman

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https://api.crossref.org/works/10.1002%2FHUMU.10233

7 January 2021

NIDDM Associated With Mutation in Tyrosine Kinase Domain of Insulin Receptor Gene

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7 January 2021

Autophosphorylation of activation loop tyrosines regulates signaling by the TRK nerve growth factor receptor

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7 January 2021

Ror2, encoding a receptor-like tyrosine kinase, is required for cartilage and growth plate development

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7 January 2021

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

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7 January 2021

Methionine for valine substitution in exon 17 of the insulin receptor gene in a pedigree with familial NIDDM.

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7 January 2021

A C. elegans Ror receptor tyrosine kinase regulates cell motility and asymmetric cell division

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7 January 2021

Nonsense-mediated mRNA decay in health and disease

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https://api.crossref.org/works/10.1002%2FHUMU.10233

7 January 2021

Brachydactyly type B: clinical description, genetic mapping to chromosome 9q, and evidence for a shared ancestral mutation

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https://api.crossref.org/works/10.1002%2FHUMU.10233

7 January 2021

Protein kinase catalytic domain sequence database: identification of conserved features of primary structure and classification of family members

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7 January 2021

Homozygosity for a new mutation (Ile119-->Met) in the insulin receptor gene in five sibs with familial insulin resistance

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https://api.crossref.org/works/10.1002%2FHUMU.10233

7 January 2021

Two mutant alleles of the insulin receptor gene in a patient with extreme insulin resistance.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10233

7 January 2021

Robinow (fetal face) syndrome: report of a boy with dominant type and an infant with recessive type

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https://api.crossref.org/works/10.1002%2FHUMU.10233

7 January 2021

Homozygous nonsense mutation in the insulin receptor gene in infant with leprechaunism.

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7 January 2021

Activation of glucose transport by a natural mutation in the human insulin receptor

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7 January 2021

The Wnt receptor CRD domain is also found in MuSK and related orphan receptor tyrosine kinases

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7 January 2021

Expression of the receptor tyrosine kinase genes, Ror1 and Ror2, during mouse development.

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7 January 2021

Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene

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7 January 2021

Functional properties of a naturally occurring Trp1200----Ser1200 mutation of the insulin receptor

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7 January 2021

Prevalence of mutations in the insulin receptor gene in subjects with features of the type A syndrome of insulin resistance.

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7 January 2021

Cloning of a novel member of the reticulon gene family (RTN3): gene structure and chromosomal localization to 11q13

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7 January 2021

Human diabetes associated with a mutation in the tyrosine kinase domain of the insulin receptor

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https://api.crossref.org/works/10.1002%2FHUMU.10233

7 January 2021

A novel Drosophila receptor tyrosine kinase expressed specifically in the nervous system. Unique structural features and implication in developmental signaling

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10233

7 January 2021

Spatio-temporally regulated expression of receptor tyrosine kinases, mRor1, mRor2, during mouse development: implications in development and function of the nervous system

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10233

7 January 2021

Brachydactyly type B: linkage to chromosome 9q22 and evidence for genetic heterogeneity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10233

7 January 2021

Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10233

7 January 2021

Mutant insulin receptors in syndromes of insulin resistance

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https://api.crossref.org/works/10.1002%2FHUMU.10233

7 January 2021

https://api.crossref.org/works/10.1002%2FHUMU.10233

1 reference

7 January 2021

Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymüller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10233

7 January 2021

Mutations in CDMP1 cause autosomal dominant brachydactyly type C

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10233

7 January 2021

Localization of the human Ror1 gene (NTRKR1) to chromosome 1p31-p32 by fluorescence in situ hybridization and somatic cell hybrid analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10233

7 January 2021

RTK mutations and human syndromeswhen good receptors turn bad.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10233

7 January 2021

The Robinow (fetal face) syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10233

7 January 2021

Localization of disulfide bonds in the frizzled module of Ror1 receptor tyrosine kinase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10233

7 January 2021

Cell signaling by receptor tyrosine kinases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10233

7 January 2021

Robinow or "fetal face syndrome" in a male infant with ambiguous genitalia and androgen receptor deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10233

7 January 2021

Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10233

7 January 2021

Abnormal messenger ribonucleic acid (mRNA) transcribed from a mutant insulin receptor gene in a patient with type A insulin resistance

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10233

7 January 2021

Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10233

7 January 2021

Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10233

7 January 2021

Molecular-pathogenetic classification of genetic disorders of the skeleton

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10233

7 January 2021

Mouse Ror2 receptor tyrosine kinase is required for the heart development and limb formation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10233

7 January 2021

Mutations in insulin-receptor gene in insulin-resistant patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10233

7 January 2021

Genetic basis of endocrine disease. 1. Molecular genetics of insulin resistant diabetes mellitus.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10233

7 January 2021

Autosomal recessive Robinow syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10233

7 January 2021

A human chondrodysplasia due to a mutation in a TGF-beta superfamily member

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10233

7 January 2021

Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10233

7 January 2021

Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10233

7 January 2021

Oto- spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10233

7 January 2021

Structural basis for chromosome X-linked agammaglobulinemia: a tyrosine kinase disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10233

7 January 2021

Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10233

7 January 2021

DNA-based mutation analysis of Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinaemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10233

7 January 2021

Recessively inherited costovertebral segmentation defect with mesomelia and peculiar facies (Covesdem syndrome): A new genetic entity?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10233

7 January 2021

Homozygous deletion of the human insulin receptor gene results in leprechaunism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10233

7 January 2021

Dror, a potential neurotrophic receptor gene, encodes a Drosophila homolog of the vertebrate Ror family of Trk-related receptor tyrosine kinases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10233

7 January 2021

The Frizzled CRD domain is conserved in diverse proteins including several receptor tyrosine kinases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10233

7 January 2021

Identifiers

DOI

10.1002/HUMU.10233

1 reference

3 December 2017

1 reference