PMC Links for Books (Select 2805318) - PMC - NCBI

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Items: 6

Select item 46540521.

Disruption of murine Adamtsl4 results in zonular fiber detachment from the lens and in retinal pigment epithelium dedifferentiation

Gayle B. Collin, Dirk Hubmacher, Jeremy R. Charette, Wanda L. Hicks, Lisa Stone, Minzhong Yu, Jürgen K. Naggert, Mark P. Krebs, Neal S. Peachey, Suneel S. Apte, Patsy M. Nishina

Hum Mol Genet. 2015 Dec 15; 24(24): 6958–6974. Published online 2015 Sep 24. doi: 10.1093/hmg/ddv399

PMCID:: PMC4654052

Article PDF–1.7M

Select item 45447532.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Article PDF–960K

Select item 41051163.

Mutation survey of candidate genes in 40 Chinese patients with congenital ectopia lentis

Jie Li, Xiaoyun Jia, Shiqiang Li, Shaohua Fang, Xiangming Guo

Mol Vis. 2014; 20: 1017–1024. Published online 2014 Jul 18.

PMCID:: PMC4105116

Article PDF–2.3M

Select item 32923784.

ADAMTSL4, a Secreted Glycoprotein Widely Distributed in the Eye, Binds Fibrillin-1 Microfibrils and Accelerates Microfibril Biogenesis

Luis A. R. Gabriel, Lauren W. Wang, Hannah Bader, Jason C. Ho, Alana K. Majors, Joe G. Hollyfield, Elias I. Traboulsi, Suneel S. Apte

Invest Ophthalmol Vis Sci. 2012 Jan; 53(1): 461–469. Published online 2012 Jan 30. doi: 10.1167/iovs.10-5955

PMCID:: PMC3292378

Article PDF–4.1M

Select item 27972185.

A Disintegrin-like and Metalloprotease (Reprolysin-type) with Thrombospondin Type 1 Motif (ADAMTS) Superfamily: Functions and Mechanisms

Suneel S. Apte

J Biol Chem. 2009 Nov 13; 284(46): 31493–31497. Published online 2009 Sep 4. doi: 10.1074/jbc.R109.052340

PMCID:: PMC2797218

Article PDF–652K

Select item 17352726.

In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome

L Faivre, R Gorlin, M Wirtz, M Godfrey, N Dagoneau, J Samples, M Le Merrer, G Collod-Beroud, C Boileau, A Munnich, V Cormier-Daire

J Med Genet. 2003 Jan; 40(1): 34–36. doi: 10.1136/jmg.40.1.34

PMCID:: PMC1735272

Summary PDF–144K

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