S Rix, A Calmont, PJ Scambler… - Human molecular …, 2011 - Oxford Univ Press IFT80, a protein component of intraflagellar transport (IFT) complex B, is required for the formation, maintenance and functionality of cilia. Mutations in IFT80 cause Jeune asphyxiating thoracic dystrophy (JATD) and short rib polydactyly (SRP) type III. Both diseases are ... Cited by 2 - Related articles - All 6 versions
P Mill, PJ Lockhart, E Fitzpatrick… - The American Journal of …, 2011 - Elsevier Defects in cilia formation and function result in a range of human skeletal and visceral abnormalities. Mutations in several genes have been identified to cause a proportion of these disorders, some of which display genetic (locus) heterogeneity. Mouse models are ... Cited by 2 - Related articles - All 2 versions
[HTML] from nih.govC Thiel, K Kessler, A Giessl, A Dimmler… - The American Journal of …, 2011 - Elsevier Defects of ciliogenesis have been implicated in a wide range of human phenotypes and play a crucial role in signal transduction and cell-cycle coordination. We used homozygosity mapping in two families with autosomal-recessive short-rib polydactyly syndrome Majewski type to ... Cited by 3 - Related articles - All 4 versions
JC Christensen, FB Leff, GM Lepow… - Journal of Foot and …, 2011 - jfas.org The following article was first published in The Journal of Foot Surgery 30 years ago (Christensen JC, Leff FB, Lepow GM, Schwartz RI, Colon PA, Arminio ST, Nixon P, Segel D, Leff S. Congenital polydactyly and polymetatarsalia: classification, genetics, and surgical correction. J Foot ... Related articles - Cached - All 3 versions
IC Dunn, IR Paton, AK Clelland… - Developmental …, 2011 - Wiley Online Library Point mutations in the intronic ZRS region of Lmbr1, a limb specific cis-regulatory element of Sonic hedgehog (Shh), are associated with polydactyly in humans, cats, and mice. We and others have recently mapped the dominant preaxial polydactyly (Po) locus in Silkie chickens to a ... Related articles - All 5 versions
S Rix, A Calmont, PJ Scambler… - Human molecular …, 2011 - Oxford Univ Press IFT80, a protein component of intraflagellar transport (IFT) complex B, is required for the formation, maintenance and functionality of cilia. Mutations in IFT80 cause Jeune asphyxiating thoracic dystrophy (JATD) and short rib polydactyly (SRP) type III. Both diseases are ... Cited by 2 - Related articles - All 6 versions
P Mill, PJ Lockhart, E Fitzpatrick… - The American Journal of …, 2011 - Elsevier Defects in cilia formation and function result in a range of human skeletal and visceral abnormalities. Mutations in several genes have been identified to cause a proportion of these disorders, some of which display genetic (locus) heterogeneity. Mouse models are ... Cited by 2 - Related articles - All 2 versions
[HTML] from nih.govC Thiel, K Kessler, A Giessl, A Dimmler… - The American Journal of …, 2011 - Elsevier Defects of ciliogenesis have been implicated in a wide range of human phenotypes and play a crucial role in signal transduction and cell-cycle coordination. We used homozygosity mapping in two families with autosomal-recessive short-rib polydactyly syndrome Majewski type to ... Cited by 3 - Related articles - All 4 versions
JC Christensen, FB Leff, GM Lepow… - Journal of Foot and …, 2011 - jfas.org The following article was first published in The Journal of Foot Surgery 30 years ago (Christensen JC, Leff FB, Lepow GM, Schwartz RI, Colon PA, Arminio ST, Nixon P, Segel D, Leff S. Congenital polydactyly and polymetatarsalia: classification, genetics, and surgical correction. J Foot ... Related articles - Cached - All 3 versions
IC Dunn, IR Paton, AK Clelland… - Developmental …, 2011 - Wiley Online Library Point mutations in the intronic ZRS region of Lmbr1, a limb specific cis-regulatory element of Sonic hedgehog (Shh), are associated with polydactyly in humans, cats, and mice. We and others have recently mapped the dominant preaxial polydactyly (Po) locus in Silkie chickens to a ... Related articles - All 5 versions
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