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Scholar Results 1 - 10 of about 101 related to Patton: Robinow syndrome. (0.10 sec) 

Robinow syndrome

- bmj.com
MA Patton, AR Afzal - British Medical Journal, 2002 - jmg.bmj.com
In 1969, Robinow and colleagues described a syndrome of mesomelic shortening,
hemivertebrae, genital hypoplasia, and "fetal facies". Over 100 cases have now
been reported and we have reviewed the current knowledge of the clinical ...
Cited by 51 - Related articles - BL Direct - All 6 versions

Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive …


H van Bokhoven, J Celli, H Kayserili, E van … - Nature genetics, 2000 - nature.com
Cited by 93 - Related articles - BL Direct - All 4 versions

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


S Takeuchi, K Takeda, I Oishi, M Nomi, M … - Genes to Cells, 2000 - Mol Biology Soc Japan
Page 1. Mouse Ror2 receptor tyrosine kinase is required for the heart
development and limb formation Shigeto Takeuchi 1 , Kiyoshi ...
Cited by 81 - Related articles - BL Direct - All 5 versions

Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by …


AR Afzal, A Rajab, CD Fenske, M Oldridge, N … - Nature genetics, 2000 - nature.com
Cited by 96 - Related articles - BL Direct - All 4 versions

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


TM DeChiara, RB Kimble, WT Poueymirou, J … - Nature genetics, 2000 - nature.com
Receptor tyrosine kinases often have critical roles in particular cell lineages
by initiating signalling cascades in those lineages. Examples include the
neural-specific TRK receptors 1 , the VEGF and angiopoietin ...
Cited by 92 - Related articles - BL Direct - All 3 versions

One gene, two phenotypes: ROR2 mutations in autosomal recessive Robinow syndrome and …


AR Afzal, S Jeffery - Human mutation, 2003 - interscience.wiley.com
Autosomal recessive Robinow syndrome (RRS) is a severe skeletal dysplasia with
short stature, generalized limb shortening, segmental defects of the spine,
brachydactyly, and a dysmorphic facial appearance. The gene encoding ...
Cited by 31 - Related articles - All 5 versions

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

- nih.gov [PDF] 
GC Schwabe, S Tinschert, C Buschow, P … - The American Journal of Human Genetics, 2000 - Elsevier
Brachydactyly type B (BDB) is an autosomal dominant skeletal disorder
characterized by hypoplasia/aplasia of distal phalanges and nails. Recently,
heterozygous mutations of the orphan receptor tyrosine kinase (TK) ROR2, ...
Cited by 89 - Related articles - BL Direct - All 7 versions

Ror2 knockout mouse as a model for the developmental pathology of autosomal recessive …


GC Schwabe, B Trepczik, K Suring, N Brieske … - Developmental Dynamics, 2004 - interscience.wiley.com
Robinow syndrome (RS) is a human dwarfism syndrome characterized by mesomelic
limb shortening, vertebral and craniofacial malformations and small external
genitals. We have analyzed Ror2 -/- mice as a model for the developmental ...
Cited by 27 - Related articles - BL Direct - All 4 versions

Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause …


M Oldridge, M Ana, M Maringa, P Propping, S … - Nature genetics, 2000 - nature.com
Inherited limb malformations provide a valuable resource for the identification
of genes involved in limb development 1, 2 . Brachydactyly type B (BDB), an
autosomal dominant disorder, is the most severe of the brachydactylies 3 ...
Cited by 107 - Related articles - BL Direct - All 4 versions

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


R Al-Shawi, SV Ashton, C Underwood, JP … - Development genes and evolution, 2001 - Springer
Abstract Ror1 and Ror2 are orphan receptor tyrosine kinases that are most
closely related to MuSK and the Trk family of neurotrophin receptors. We report
the re- sults of an extensive in situ hybridisation survey of the ...
Cited by 27 - Related articles - BL Direct - All 3 versions


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