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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2002 | 1 |
2009 | 1 |
2012 | 1 |
2013 | 1 |
2014 | 1 |
2024 | 0 |
PubMed (OMIM) for id: 170691
5 results
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Page 1
Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome.
Mol Vis. 2014 Jun 12;20:790-6. eCollection 2014.
Mol Vis. 2014.
PMID: 24940034
Free PMC article.
Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans.
Radner FP, Marrakchi S, Kirchmeier P, Kim GJ, Ribierre F, Kamoun B, Abid L, Leipoldt M, Turki H, Schempp W, Heilig R, Lathrop M, Fischer J.
Radner FP, et al.
PLoS Genet. 2013 Jun;9(6):e1003536. doi: 10.1371/journal.pgen.1003536. Epub 2013 Jun 6.
PLoS Genet. 2013.
PMID: 23754960
Free PMC article.
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Familial spherophakia with short stature caused by a novel homozygous ADAMTS17 mutation.
Khan AO, Aldahmesh MA, Al-Ghadeer H, Mohamed JY, Alkuraya FS.
Khan AO, et al.
Ophthalmic Genet. 2012 Dec;33(4):235-9. doi: 10.3109/13816810.2012.666708. Epub 2012 Apr 9.
Ophthalmic Genet. 2012.
PMID: 22486325
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Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature.
Morales J, Al-Sharif L, Khalil DS, Shinwari JM, Bavi P, Al-Mahrouqi RA, Al-Rajhi A, Alkuraya FS, Meyer BF, Al Tassan N.
Morales J, et al.
Am J Hum Genet. 2009 Nov;85(5):558-68. doi: 10.1016/j.ajhg.2009.09.011.
Am J Hum Genet. 2009.
PMID: 19836009
Free PMC article.
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Cloning, expression analysis, and structural characterization of seven novel human ADAMTSs, a family of metalloproteinases with disintegrin and thrombospondin-1 domains.
Cal S, Obaya AJ, Llamazares M, Garabaya C, Quesada V, López-Otín C.
Cal S, et al.
Gene. 2002 Jan 23;283(1-2):49-62. doi: 10.1016/s0378-1119(01)00861-7.
Gene. 2002.
PMID: 11867212
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