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Select item 91642601.

Multimodal Imaging in Ocular Siderosis

Anh D. Bui, Anna L. Diep, Qiyin Lin, Donald S. Minckler, Andrew W. Browne, Angeline L. Wang

J Vitreoretin Dis. 2021 Jan-Feb; 5(1): 81–86. Published online 2020 Oct 27. doi: 10.1177/2474126420962020

PMCID:: PMC9164260

Abstract Article PDF–753K

Select item 80467722.

Altered pupillary light responses are associated with the severity of autonomic symptoms in patients with Fabry disease

Gulfidan Bitirgen, Kultigin Turkmen, Nazmi Zengin, Rayaz A. Malik

Sci Rep. 2021; 11: 8146. Published online 2021 Apr 14. doi: 10.1038/s41598-021-87589-x

PMCID:: PMC8046772

Abstract Article PDF–1.5M

Select item 81180333.

Outcome Prognostication of Acute Brain Injury using the Neurological Pupil Index (ORANGE) study: protocol for a prospective, observational, multicentre, international cohort study

Mauro Oddo, Fabio Taccone, Stefania Galimberti, Paola Rebora, Giuseppe Citerio, Orange Study Group

BMJ Open. 2021; 11(5): e046948. Published online 2021 May 11. doi: 10.1136/bmjopen-2020-046948

PMCID:: PMC8118033

Abstract Article PDF–243K

Select item 82853494.

Automated Pupillometry Identifies Absence of Intracranial Pressure Elevation in Intracerebral Hemorrhage Patients

Antje Giede-Jeppe, Maximilian I. Sprügel, Hagen B. Huttner, Matthias Borutta, Joji B. Kuramatsu, Philip Hoelter, Tobias Engelhorn, Stefan Schwab, Julia Koehn

Neurocrit Care. 2021; 35(1): 210–220. Published online 2020 Dec 24. doi: 10.1007/s12028-020-01146-4

PMCID:: PMC8285349

Abstract Article PDF–3.0M

Select item 43551835.

York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1

Thomas Markello, Dong Chen, Justin Y. Kwan, Iren Horkayne-Szakaly, Alan Morrison, Olga Simakova, Irina Maric, Jay Lozier, Andrew R. Cullinane, Tatjana Kilo, Lynn Meister, Kourosh Pakzad, William Bone, Sanjay Chainani, Elizabeth Lee, Amanda Links, Cornelius Boerkoel, Roxanne Fischer, Camilo Toro, James G. White, William A Gahl, Meral Gunay-Aygun

Mol Genet Metab. Author manuscript; available in PMC 2016 Mar 1.

Published in final edited form as: Mol Genet Metab. 2015 Mar; 114(3): 474–482. Published online 2014 Dec 24. doi: 10.1016/j.ymgme.2014.12.307

PMCID:: PMC4355183

Abstract Article PDF–3.8M

Select item 35272576.

Defining the Epigenetic Mechanism of Asymmetric Cell Division of Schizosaccharomyces japonicus Yeast

Chuanhe Yu, Michael J. Bonaduce, Amar J. S. Klar

Genetics. 2013 Jan; 193(1): 85–94. doi: 10.1534/genetics.112.146233

PMCID:: PMC3527257

Abstract Article PDF–1.1M

Select item 35429667.

The Challenging Pupil in the Classroom: Child Effects on Teachers

Renate M. Houts, Avshalom Caspi, Robert C. Pianta, Louise Arseneault, Terrie E. Moffitt

Psychol Sci. Author manuscript; available in PMC 2013 Jan 11.

Published in final edited form as: Psychol Sci. 2010 Dec; 21(12): 1802–1810. Published online 2010 Nov 15. doi: 10.1177/0956797610388047

PMCID:: PMC3542966

Abstract Article PDF–444K

Select item 36506118.

Ophthalmologic findings in Aicardi syndrome

Gary Fruhman, Tanya N. Eble, Nikki Gambhir, V. Reid Sutton, Ignatia B. Van den Veyver, Richard A. Lewis

J AAPOS. Author manuscript; available in PMC 2013 Jun 1.

Published in final edited form as: J AAPOS. 2012 Jun; 16(3): 238–241. doi: 10.1016/j.jaapos.2012.01.008

PMCID:: PMC3650611

Abstract Article PDF–40K

Select item 37367189.

Laminin β2 Gene Missense Mutation Produces Endoplasmic Reticulum Stress in Podocytes

Ying Maggie Chen, Yuefang Zhou, Gloriosa Go, Joseph T. Marmerstein, Yamato Kikkawa, Jeffrey H. Miner

J Am Soc Nephrol. 2013 Jul 31; 24(8): 1223–1233. Published online 2013 May 30. doi: 10.1681/ASN.2012121149

PMCID:: PMC3736718

Abstract Article

Select item 374354410.

Incidence of Pediatric Horner Syndrome and the Risk of Neuroblastoma: A Population-Based Study

Stephen J. Smith, Nancy Diehl, Jacqueline A. Leavitt, Brian G. Mohney

Arch Ophthalmol. Author manuscript; available in PMC 2013 Aug 14.

Published in final edited form as: Arch Ophthalmol. 2010 Mar; 128(3): 324–329. doi: 10.1001/archophthalmol.2010.6

PMCID:: PMC3743544

Abstract Article PDF–236K

Select item 379591911.

The post illumination pupil response is reduced in seasonal affective disorder

Kathryn Roecklein, Patricia Wong, Natalie Ernecoff, Megan Miller, Shannon Donofry, Marissa Kamarck, W. Michael Wood-Vasey, Peter Franzen

Psychiatry Res. Author manuscript; available in PMC 2014 Nov 30.

Published in final edited form as: Psychiatry Res. 2013 Nov 30; 210(1): 150–158. Published online 2013 Jul 1. doi: 10.1016/j.psychres.2013.05.023

PMCID:: PMC3795919

Abstract Article PDF–336K

Select item 383967112.

The Glomerular Basement Membrane as a Barrier to Albumin

Jung Hee Suh, Jeffrey H. Miner

Nat Rev Nephrol. Author manuscript; available in PMC 2014 Feb 1.

Published in final edited form as: Nat Rev Nephrol. 2013 Aug; 9(8): 10.1038/nrneph.2013.109. Published online 2013 Jun 18. doi: 10.1038/nrneph.2013.109

PMCID:: PMC3839671

Abstract Article PDF–325K

Select item 384751513.

Cerebral arteriopathy associated with Arg179His ACTA2 mutation

Matthew R Amans, Charles Stout, Christine Fox, Jared Narvid, Steven W Hetts, Daniel L Cooke, Randall T Higashida, Christopher F Dowd, Hugh McSwain, Van V Halbach

BMJ Case Rep. 2013; 2013: bcr2013010997. Published online 2013 Nov 29. doi: 10.1136/bcr-2013-010997

PMCID:: PMC3847515

Abstract Article PDF–1.4M

Select item 396408414.

Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis

Vasyl Nesin, Graham Wiley, Maria Kousi, E-Ching Ong, Thomas Lehmann, David J. Nicholl, Mohnish Suri, Nortina Shahrizaila, Nicholas Katsanis, Patrick M. Gaffney, Klaas J. Wierenga, Leonidas Tsiokas

Proc Natl Acad Sci U S A. 2014 Mar 18; 111(11): 4197–4202. Published online 2014 Mar 3. doi: 10.1073/pnas.1312520111

PMCID:: PMC3964084

Abstract Article PDF–1.2M

Select item 407255915.

The Rim15-Endosulfine-PP2A^Cdc55 Signalling Module Regulates Entry into Gametogenesis and Quiescence via Distinct Mechanisms in Budding Yeast

Sourav Sarkar, Jacob Z. Dalgaard, Jonathan B. A. Millar, Prakash Arumugam

PLoS Genet. 2014 Jun; 10(6): e1004456. Published online 2014 Jun 26. doi: 10.1371/journal.pgen.1004456

PMCID:: PMC4072559

Abstract Article PDF–4.0M

Select item 322348416.

A Novel Mutation of LAMB2 in a Multi-Generational Mennonite Family Reveals a New Phenotypic Variant of Pierson Syndrome

Brian G. Mohney, Jose S. Pulido, Noralane M. Lindor, Marie C. Hogan, Mark B. Consugar, Justin Peters, V. Shane Pankratz, Samih H. Nasr, Stephen J. Smith, James Gloor, Vickie Kubly, Dorothy Spencer, Rebecca Nielson, Erik G. Puffenberger, Kevin A. Strauss, D. Holmes Morton, Lama Eldahdah, Peter C. Harris

Ophthalmology. Author manuscript; available in PMC 2012 Jun 1.

Published in final edited form as: Ophthalmology. 2011 Jun; 118(6): 1137–1144. Published online 2011 Jan 13. doi: 10.1016/j.ophtha.2010.10.009

PMCID:: PMC3223484

Abstract Article PDF–2.8M

Select item 435874317.

Eye features in 3 Danish patients with Multi Systemic Smooth Muscle Dysfunction Syndrome

H.U. Moller, Hans C. Fledelius, Dianna M. Milemicz, Ellen S. Regalado, John R. Ostergaard

Br J Ophthalmol. Author manuscript; available in PMC 2015 Mar 13.

Published in final edited form as: Br J Ophthalmol. 2012 Sep; 96(9): 1227–1231. Published online 2012 Jul 11. doi: 10.1136/bjophthalmol-2011-301462

PMCID:: PMC4358743

Abstract Article PDF–618K

Select item 438517818.

Submicroscopic Deletions at 13q32.1 Cause Congenital Microcoria

Lucas Fares-Taie, Sylvie Gerber, Akihiko Tawara, Arturo Ramirez-Miranda, Jean-Yves Douet, Hannah Verdin, Antoine Guilloux, Juan C. Zenteno, Hiroyuki Kondo, Hugo Moisset, Bruno Passet, Ken Yamamoto, Masaru Iwai, Toshihiro Tanaka, Yusuke Nakamura, Wataru Kimura, Christine Bole-Feysot, Marthe Vilotte, Sylvie Odent, Jean-Luc Vilotte, Arnold Munnich, Alain Regnier, Nicolas Chassaing, Elfride De Baere, Isabelle Raymond-Letron, Josseline Kaplan, Patrick Calvas, Olivier Roche, Jean-Michel Rozet

Am J Hum Genet. 2015 Apr 2; 96(4): 631–639. doi: 10.1016/j.ajhg.2015.01.014

PMCID:: PMC4385178

Abstract Article PDF–1.0M

Select item 485179619.

A novel LAMB2 gene mutation associated with a severe phenotype in a neonate with Pierson syndrome

Boutaina Zemrani, François Cachat, Olivier Bonny, Eric Giannoni, Jacques Durig, Florence Fellmann, Hassib Chehade

Eur J Med Res. 2016; 21: 19. Published online 2016 Apr 30. doi: 10.1186/s40001-016-0215-z

PMCID:: PMC4851796

Abstract Article PDF–856K

Select item 486832720.

Divergent Development of Hexaploid Triticale by a Wheat – Rye –Psathyrostachys huashanica Trigeneric Hybrid Method

Houyang Kang, Hao Wang, Juan Huang, Yujie Wang, Daiyan Li, Chengdou Diao, Wei Zhu, Yao Tang, Yi Wang, Xing Fan, Jian Zeng, Lili Xu, Lina Sha, Haiqin Zhang, Yonghong Zhou

PLoS One. 2016; 11(5): e0155667. Published online 2016 May 16. doi: 10.1371/journal.pone.0155667

PMCID:: PMC4868327

Abstract Article PDF–6.2M

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