PMC Links for Nucleotide (Select 1732746158) - PMC

Select item 63124611.

Severe Bleeding with Subclinical Oculocutaneous Albinism in a Patient with a Novel HPS6 Missense Variant

Chen G. Han, Kevin J. O’Brien, Lea M. Coon, Julie A. Majerus, Laryssa A. Huryn, Sara G. Haroutunian, Nagabhishek Moka, Wendy J. Introne, Ellen Macnamara, William A. Gahl, May Christine V. Malicdan, Dong Chen, Koyamangalath Krishnan, Bernadette R. Gochuico

Am J Med Genet A. Author manuscript; available in PMC 2019 Dec 1.

Published in final edited form as: Am J Med Genet A. 2018 Dec; 176(12): 2819–2823. Published online 2018 Oct 4. doi: 10.1002/ajmg.a.40514

PMCID:: PMC6312461

Abstract Article PDF–413K

Select item 50831802.

Identification of a Novel Mutation in HPS6 in a Patient with Hemophilia B and Oculocutaneous Albinism

Kevin J. O’Brien, Jay Lozier, Andrew R. Cullinane, Brigitte Osorio, Khanh Nghiem, Vladislav Speransky, Wadih M. Zein, James C. Mullikin, Anne T. Neff, Karen L. Simon, May Christine V. Malicdan, William A. Gahl, Lisa R. Young, Bernadette R. Gochuico

Mol Genet Metab. Author manuscript; available in PMC 2017 Nov 1.

Published in final edited form as: Mol Genet Metab. 2016 Nov; 119(3): 284–287. Published online 2016 Sep 3. doi: 10.1016/j.ymgme.2016.08.009

PMCID:: PMC5083180

Abstract Article PDF–212K

Select item 35007843.

Clinical and cellular characterization of Hermansky-Pudlak syndrome type-6

Marjan Huizing, Ben Pederson, Richard A Hess, Ashley Griffin, Amanda Helip-Wooley, Wendy Westbroek, Heidi Dorward, Kevin J O’Brien, Gretchen Golas, Ekaterini Tsilou, James G White, William A Gahl

J Med Genet. Author manuscript; available in PMC 2012 Nov 19.

Published in final edited form as: J Med Genet. 2009 Dec; 46(12): 803–810. Published online 2009 Oct 20. doi: 10.1136/jmg.2008.065961

PMCID:: PMC3500784

Abstract Article PDF–4.2M

Select item 13802254.

A Scan of Chromosome 10 Identifies a Novel Locus Showing Strong Association with Late-Onset Alzheimer Disease

Andrew Grupe, Yonghong Li, Charles Rowland, Petra Nowotny, Anthony L. Hinrichs, Scott Smemo, John S. K. Kauwe, Taylor J. Maxwell, Sara Cherny, Lisa Doil, Kristina Tacey, Ryan van Luchene, Amanda Myers, Fabienne Wavrant-De Vrièze, Mona Kaleem, Paul Hollingworth, Luke Jehu, Catherine Foy, Nicola Archer, Gillian Hamilton, Peter Holmans, Chris M. Morris, Joseph Catanese, John Sninsky, Thomas J. White, John Powell, John Hardy, Michael O’Donovan, Simon Lovestone, Lesley Jones, John C. Morris, Leon Thal, Michael Owen, Julie Williams, Alison Goate

Am J Hum Genet. 2006 Jan; 78(1): 78–88. Published online 2005 Nov 15. doi: 10.1086/498851

PMCID:: PMC1380225

Abstract Article PDF–329K

Select item 54661585.

Pulmonary Fibrosis in Hermansky–Pudlak Syndrome

Glenn W. Vicary, Yeidyly Vergne, Alberto Santiago-Cornier, Lisa R. Young, Jesse Roman

Ann Am Thorac Soc. 2016 Oct; 13(10): 1839–1846. doi: 10.1513/AnnalsATS.201603-186FR

Correction in:: Ann Am Thorac Soc. 2017 Jan; 14(1): 152.

PMCID:: PMC5466158

Abstract Article PDF–793K

Select item 27309766.

Identifying putative promoter regions of Hermansky-Pudlak syndrome genes by means of phylogenetic footprinting

H. Stanescu, T.G. Wolfsberg, R.T. Moreland, M.H. Ayub, E. Erickson, W. Westbroek, M. Huizing, W.A. Gahl, A. Helip-Wooley

Ann Hum Genet. Author manuscript; available in PMC 2010 Jul 1.

Published in final edited form as: Ann Hum Genet. 2009 Jul; 73(Pt 4): 422–428. doi: 10.1111/j.1469-1809.2009.00525.x

PMCID:: PMC2730976

Abstract Article PDF–463K

Select item 26942287.

Hermansky-Pudlak Syndrome Type 1 in Patients of Indian Descent

Lisa M. Vincent, David Adams, Richard A. Hess, Shira G. Ziegler, Ekaterini Tsilou, Gretchen Golas, Kevin J. O'Brien, James G. White, Marjan Huizing, William A. Gahl

Mol Genet Metab. Author manuscript; available in PMC 2010 Jul 1.

Published in final edited form as: Mol Genet Metab. 2009 Jul; 97(3): 227–233. Published online 2009 Apr 2. doi: 10.1016/j.ymgme.2009.03.011

PMCID:: PMC2694228

Abstract Article PDF–949K

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