PMC Links for Books (Select 1487102) - PMC

Select item 68968991.

Reevaluating the Role of Megalin in Renal Vitamin D Homeostasis Using a Human Cell-Derived Microphysiological System

Brian D. Chapron, Alenka Chapron, Brian Phillips, Miracle C. Okoli, Danny D. Shen, Edward J. Kelly, Jonathan Himmelfarb, Kenneth E. Thummel

ALTEX. Author manuscript; available in PMC 2019 Dec 6.

Published in final edited form as: ALTEX. 2018; 35(4): 504–515. Published online 2018 Jul 8. doi: 10.14573/altex.1803161

PMCID:: PMC6896899

Article PDF–2.2M

Select item 59956422.

Hypercalciuria and nephrolithiasis: expanding the renal phenotype of Donnai-Barrow syndrome

Franca Anglani, Liliana Terrin, Milena Brugnara, Michele Battista, Vincenzo Cantaluppi, Monica Ceol, Loris Bertoldi, Giorgio Valle, Maliackal P. Joy, Barbara R Pober, Mauro Longoni

Clin Genet. Author manuscript; available in PMC 2019 Jul 1.

Published in final edited form as: Clin Genet. 2018 Jul; 94(1): 187–188. Published online 2018 Mar 13. doi: 10.1111/cge.13242

PMCID:: PMC5995642

Article PDF–157K

Select item 48524993.

Common arterial trunk and ventricular non-compaction in Lrp2 knockout mice indicate a crucial role of LRP2 in cardiac development

Maria E. Baardman, Mathijs V. Zwier, Lambertus J. Wisse, Adriana C. Gittenberger-de Groot, Wilhelmina S. Kerstjens-Frederikse, Robert M. W. Hofstra, Angelika Jurdzinski, Beerend P. Hierck, Monique R. M. Jongbloed, Rolf M. F. Berger, Torsten Plösch, Marco C. DeRuiter

Dis Model Mech. 2016 Apr 1; 9(4): 413–425. doi: 10.1242/dmm.022053

PMCID:: PMC4852499

Article

Select item 45447534.

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 44809725.

Foxg1-Cre Mediated Lrp2 Inactivation in the Developing Mouse Neural Retina, Ciliary and Retinal Pigment Epithelia Models Congenital High Myopia

Olivier Cases, Antoine Joseph, Antoine Obry, Mathieu D. Santin, Sirine Ben-Yacoub, Michel Pâques, Sabine Amsellem-Levera, Ana Bribian, Manuel Simonutti, Sébastien Augustin, Thomas Debeir, José Alain Sahel, Annabel Christ, Fernando de Castro, Stéphane Lehéricy, Pascal Cosette, Renata Kozyraki

PLoS One. 2015; 10(6): e0129518. Published online 2015 Jun 24. doi: 10.1371/journal.pone.0129518

PMCID:: PMC4480972

Article PDF–15M

Select item 43062276.

Assessment and Treatment of Self-Injurious Behavior Associated with Donnai-Barrow Syndrome

Henry Roane, Kelly Bouxsein, Caitlin Fulton

J Dev Phys Disabil. Author manuscript; available in PMC 2015 Jan 26.

Published in final edited form as: J Dev Phys Disabil. 2012 Aug; 24(4): 327–335. doi: 10.1007/s10882-012-9272-6

PMCID:: PMC4306227

Article PDF–554K

Select item 41869787.

Megalin–deficiency causes high myopia, retinal pigment epithelium-macromelanosomes and abnormal development of the ciliary body in mice

Tina Storm, Steffen Heegaard, Erik I. Christensen, Rikke Nielsen

Cell Tissue Res. 2014; 358(1): 99–107. Published online 2014 Jul 1. doi: 10.1007/s00441-014-1919-4

PMCID:: PMC4186978

Article PDF–3.6M

Select item 30406618.

Mutations in Zebrafish lrp2 Result in Adult-Onset Ocular Pathogenesis That Models Myopia and Other Risk Factors for Glaucoma

Kerry N. Veth, Jason R. Willer, Ross F. Collery, Matthew P. Gray, Gregory B. Willer, Daniel S. Wagner, Mary C. Mullins, Ava J. Udvadia, Richard S. Smith, Simon W. M. John, Ronald G. Gregg, Brian A. Link

PLoS Genet. 2011 Feb; 7(2): e1001310. Published online 2011 Feb 17. doi: 10.1371/journal.pgen.1001310

PMCID:: PMC3040661

Article PDF–1.6M

Select item 28917499.

Donnai–Barrow Syndrome (DBS/FOAR) in a Child With a Homozygous LRP2 Mutation Due to Complete Chromosome 2 Paternal Isodisomy

Sibel Kantarci, Nicola K. Ragge, N. Simon Thomas, David O. Robinson, Kristin M. Noonan, Meaghan K. Russell, Dian Donnai, F. Lucy Raymond, Christopher A. Walsh, Patricia K. Donahoe, Barbara R. Pober

Am J Med Genet A. Author manuscript; available in PMC 2010 Jun 24.

Published in final edited form as: Am J Med Genet A. 2008 Jul 15; 146A(14): 1842–1847. doi: 10.1002/ajmg.a.32381

PMCID:: PMC2891749

Article PDF–468K

Select item 289172810.

Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes

Sibel Kantarci, Lihadh Al-Gazali, R Sean Hill, Dian Donnai, Graeme C M Black, Eric Bieth, Nicolas Chassaing, Didier Lacombe, Koen Devriendt, Ahmad Teebi, Maria Loscertales, Caroline Robson, Tianming Liu, David T MacLaughlin, Kristin M Noonan, Meaghan K Russell, Christopher A Walsh, Patricia K Donahoe, Barbara R Pober

Nat Genet. Author manuscript; available in PMC 2010 Jun 24.

Published in final edited form as: Nat Genet. 2007 Aug; 39(8): 957–959. Published online 2007 Jul 15. doi: 10.1038/ng2063

PMCID:: PMC2891728

Article PDF–624K

Select item 288223411.

A Review of Donnai-Barrow and Facio-oculo-acoustico-renal (DB/FOAR) Syndrome: Clinical Features and Differential Diagnosis

Barbara R. Pober, Mauro Longoni, Kristin M. Noonan

Birth Defects Res A Clin Mol Teratol. Author manuscript; available in PMC 2010 Jun 8.

Published in final edited form as: Birth Defects Res A Clin Mol Teratol. 2009 Jan; 85(1): 76–81. doi: 10.1002/bdra.20534

PMCID:: PMC2882234

Article PDF–58K

Select item 105119212.

Proteinuria in a patient with the diaphragmatic hernia-hypertelorism-myopia-deafness syndrome: further evidence that the facio-oculo-acoustico-renal syndrome represents the same entity.

K Devriendt, L Standaert, C Van Hole, H Devlieger, J P Fryns

J Med Genet. 1998 Jan; 35(1): 70–71. doi: 10.1136/jmg.35.1.70

PMCID:: PMC1051192

Summary Page Browse PDF–530K

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