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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
1998 | 1 |
1999 | 1 |
2001 | 1 |
2003 | 1 |
2010 | 3 |
2024 | 0 |
PubMed (cited) for id: 608183
7 results
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Page 1
Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling.
Am J Hum Genet. 2010 Dec 10;87(6):757-67. doi: 10.1016/j.ajhg.2010.10.003.
Am J Hum Genet. 2010.
PMID: 21129728
Free PMC article.
Loss of CHSY1, a secreted FRINGE enzyme, causes syndromic brachydactyly in humans via increased NOTCH signaling.
Tian J, Ling L, Shboul M, Lee H, O'Connor B, Merriman B, Nelson SF, Cool S, Ababneh OH, Al-Hadidy A, Masri A, Hamamy H, Reversade B.
Tian J, et al.
Am J Hum Genet. 2010 Dec 10;87(6):768-78. doi: 10.1016/j.ajhg.2010.11.005.
Am J Hum Genet. 2010.
PMID: 21129727
Free PMC article.
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A distinct autosomal recessive disorder of limb development with preaxial brachydactyly, phalangeal duplication, symphalangism and hyperphalangism.
Race H, Hall CM, Harrison MG, Quarrell OW, Wakeling EL.
Race H, et al.
Clin Dysmorphol. 2010 Jan;19(1):23-27. doi: 10.1097/MCD.0b013e328334557e.
Clin Dysmorphol. 2010.
PMID: 19952732
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Chondroitin proteoglycans are involved in cell division of Caenorhabditis elegans.
Mizuguchi S, Uyama T, Kitagawa H, Nomura KH, Dejima K, Gengyo-Ando K, Mitani S, Sugahara K, Nomura K.
Mizuguchi S, et al.
Nature. 2003 May 22;423(6938):443-8. doi: 10.1038/nature01635.
Nature. 2003.
PMID: 12761550
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Molecular cloning and expression of a human chondroitin synthase.
Kitagawa H, Uyama T, Sugahara K.
Kitagawa H, et al.
J Biol Chem. 2001 Oct 19;276(42):38721-6. doi: 10.1074/jbc.M106871200. Epub 2001 Aug 20.
J Biol Chem. 2001.
PMID: 11514575
Free article.
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Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
Nagase T, Ishikawa K, Suyama M, Kikuno R, Hirosawa M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O.
Nagase T, et al.
DNA Res. 1999 Feb 26;6(1):63-70. doi: 10.1093/dnares/6.1.63.
DNA Res. 1999.
PMID: 10231032
Free article.
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A new multiple congenital anomaly, mental retardation syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies.
Temtamy SA, Meguid NA, Ismail SI, Ramzy MI.
Temtamy SA, et al.
Clin Dysmorphol. 1998 Oct;7(4):249-55. doi: 10.1097/00019605-199810000-00003.
Clin Dysmorphol. 1998.
PMID: 9823490
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