PMC Links for Gene (Select 146167) - PMC

Select item 87626941.

The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences

Charlotte C. Kruijt, Libe Gradstein, Arthur A. Bergen, Ralph J. Florijn, Benoit Arveiler, Eulalie Lasseaux, Xavier Zanlonghi, Laura Bagdonaite-Bejarano, Anne B. Fulton, Claudia Yahalom, Anat Blumenfeld, Yonatan Perez, Ohad S. Birk, Gerard C. de Wit, Nicoline E. Schalij-Delfos, Maria M. van Genderen

Invest Ophthalmol Vis Sci. 2022 Jan; 63(1): 19. Published online 2022 Jan 14. doi: 10.1167/iovs.63.1.19

PMCID:: PMC8762694

Abstract Article PDF–2.0M

Select item 78660732.

Novel Biallelic Variants and Phenotypic Features in Patients with SLC38A8-Related Foveal Hypoplasia

Elena R. Schiff, Vijay K. Tailor, Hwei Wuen Chan, Maria Theodorou, Andrew R. Webster, Mariya Moosajee

Int J Mol Sci. 2021 Feb; 22(3): 1130. Published online 2021 Jan 24. doi: 10.3390/ijms22031130

PMCID:: PMC7866073

Abstract Article PDF–1.4M

Select item 39925743.

Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation

Yonatan Perez, Libe Gradstein, Hagit Flusser, Barak Markus, Idan Cohen, Yshaia Langer, Mira Marcus, Tova Lifshitz, Rotem Kadir, Ohad S Birk

Eur J Hum Genet. 2014 May; 22(5): 703–706. Published online 2013 Sep 18. doi: 10.1038/ejhg.2013.212

PMCID:: PMC3992574

Abstract Article PDF–1.0M

Select item 38820964.

Gene-environment interaction effects on lung function- a genome-wide association study within the Framingham heart study

Shu-Yi Liao, Xihong Lin, David C Christiani

Environ Health. 2013; 12: 101. Published online 2013 Dec 1. doi: 10.1186/1476-069X-12-101

PMCID:: PMC3882096

Abstract Article PDF–596K

Select item 38534095.

Recessive Mutations in SLC38A8 Cause Foveal Hypoplasia and Optic Nerve Misrouting without Albinism

James A. Poulter, Musallam Al-Araimi, Ivan Conte, Maria M. van Genderen, Eamonn Sheridan, Ian M. Carr, David A. Parry, Mike Shires, Sabrina Carrella, John Bradbury, Kamron Khan, Phillis Lakeman, Panagiotis I. Sergouniotis, Andrew R. Webster, Anthony T. Moore, Bishwanath Pal, Moin D. Mohamed, Anandula Venkataramana, Vedam Ramprasad, Rohit Shetty, Murugan Saktivel, Govindasamy Kumaramanickavel, Alex Tan, David A. Mackey, Alex W. Hewitt, Sandro Banfi, Manir Ali, Chris F. Inglehearn, Carmel Toomes

Am J Hum Genet. 2013 Dec 5; 93(6): 1143–1150. doi: 10.1016/j.ajhg.2013.11.002

PMCID:: PMC3853409

Abstract Article PDF–1.7M

Select item 17356036.

A new phenotype of recessively inherited foveal hypoplasia and anterior segment dysgenesis maps to a locus on chromosome 16q23.2–24.2.

B Pal, M Mohamed, T Keen, G Williams, J Bradbury, E Sheridan, C Inglehearn

J Med Genet. 2004 Oct; 41(10): 772–777. doi: 10.1136/jmg.2004.020040

PMCID:: PMC1735603

Summary PDF–297K

Select item 76457077.

SLC38A8 mutations result in arrested retinal development with loss of cone photoreceptor specialization

Helen J Kuht, Jinu Han, Gail D E Maconachie, Sung Eun Park, Seung-Tae Lee, Rebecca McLean, Viral Sheth, Michael Hisaund, Basu Dawar, Nicolas Sylvius, Usman Mahmood, Frank A Proudlock, Irene Gottlob, Hyun Taek Lim, Mervyn G Thomas

Hum Mol Genet. 2020 Sep 15; 29(18): 2989–3002. Published online 2020 Aug 3. doi: 10.1093/hmg/ddaa166

PMCID:: PMC7645707

Abstract Article PDF–2.0M

Select item 28964648.

Personalized Smoking Cessation: Interactions between Nicotine Dose, Dependence and Quit-Success Genotype Score

Jed E Rose, Frédérique M Behm, Tomas Drgon, Catherine Johnson, George R Uhl

Mol Med. 2010 Jul-Aug; 16(7-8): 247–253. Published online 2010 Mar 17. doi: 10.2119/molmed.2009.00159

Correction in:: Mol Med. 2012; 18(1): 729.

PMCID:: PMC2896464

Abstract Article PDF–2.4M

Select item 31780599.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

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