Associated Papers
A novel variant in the ROR2 gene underlying brachydactyly type B: a case report.
Shao J et al.
Bmc Pediatrics, 2022
A polyclonal allelic expression assay for detecting regulatory effects of transcript variants.
Brandt M et al.
Genome Medicine, 2020
Targeted next-generation sequencing-based molecular diagnosis of congenital hand malformations in Chinese population.
Qin L et al.
Scientific Reports, 2018
A new mutation in the gene ROR2 causes brachydactyly type B1.
Huang D et al.
Gene, 2014
[Advances in the molecular genetics of brachydactyly].
Guo Y et al.
Yi Chuan = Hereditas, 2012
Mechanisms of digit formation: Human malformation syndromes tell the story.
Stricker S et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2011
[Mutation analysis of the pathogenic gene in a Chinese family with Brachydactyly type B1].
Li CM et al.
Yi Chuan = Hereditas, 2011
Disruption of PCP signaling causes limb morphogenesis and skeletal defects and may underlie Robinow syndrome and brachydactyly type B.
Wang B et al.
Human Molecular Genetics, 2011
Ror-family receptor tyrosine kinases in noncanonical Wnt signaling: their implications in developmental morphogenesis and human diseases.
Minami Y et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2010
A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes.
Schwarzer W et al.
Human Molecular Genetics, 2009
A novel single-base deletion in ROR2 causes atypical brachydactyly type B1 with cutaneous syndactyly in a large Chinese family.
Lv D et al.
Journal of Human Genetics, 2009
Dominant versus recessive traits conveyed by allelic mutations - to what extent is nonsense-mediated decay involved?
Ben-Shachar S et al.
Clinical Genetics, 2009
The mutation ROR2W749X, linked to human BDB, is a recessive mutation in the mouse, causing brachydactyly, mediating patterning of joints and modeling recessive Robinow syndrome.
Raz R et al.
Development (cambridge, England), 2008
Brachydactyly type B1: report of a family with de novo ROR2 mutation.
Hamamy H et al.
Clinical Genetics, 2006
[Genetic analysis of the UGT1A1 gene mutation sites in a Chinese family suffered from Gilbert's syndrome].
Yu LH et al.
Yi Chuan = Hereditas, 2006
[Identification of a recurrent mutation in the ROR2 gene in a Chinese family with brachydactyly type B].
Yang W et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2004
ROR2 is mutated in hereditary brachydactyly with nail dysplasia, but not in Sorsby syndrome.
Bacchelli C et al.
Clinical Genetics, 2003
One gene, two phenotypes: ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type B.
Afzal AR et al.
Human Mutation, 2003
Expression and function of the Ror-family receptor tyrosine kinases during development: lessons from genetic analyses of nematodes, mice, and humans.
Yoda A et al.
Journal of Receptor and Signal Transduction Research, 2003
Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B.
Schwabe GC et al.
American Journal of Human Genetics, 2000
Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2.
Afzal AR et al.
Nature Genetics, 2000
Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome.
van Bokhoven H et al.
Nature Genetics, 2000
Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B.
Oldridge M et al.
Nature Genetics, 2000