PMC Articles for MedGen (Select 1648474) - PMC

Links from MedGen

Items: 1 to 20 of 21

<< First< Prev

Page of 2

Select item 18884791.

Multiple Peroxisomal Enzymatic Deficiency Disorders: A Comparative Biochemical and Morphologic Study of Zellweger Cerebrohepatorenal Syndrome and Neonatal Adrenoleukodystrophy

Joseph Vamecq, Jean-Pierre Draye, François Van Hoof, Jean-Paul Misson, Philippe Evrard, Gaston Verellen, Hendrik J. Eyssen, Johan Van Eldere, Ruud B. H. Schutgens, Ronald J. A. Wanders, Frank Roels, Sidney L. Goldfischer

Am J Pathol. 1986 Dec; 125(3): 524–535.

PMCID:: PMC1888479

Summary Page Browse PDF–3.2M Cite

Select item 38887872.

Mechanisms of Disease: inborn errors of bile acid synthesis

Shikha S Sundaram, Kevin E Bove, Mark A Lovell, Ronald J Sokol

Nat Clin Pract Gastroenterol Hepatol. Author manuscript; available in PMC 2014 Jan 12.

Published in final edited form as: Nat Clin Pract Gastroenterol Hepatol. 2008 Aug; 5(8): 456–468. Published online 2008 Jun 24. doi: 10.1038/ncpgasthep1179

PMCID:: PMC3888787

Article PubReader PDF–2.6M Cite

Select item 3044433.

Peroxisomal beta-oxidation enzyme proteins in adrenoleukodystrophy: distinction between X-linked adrenoleukodystrophy and neonatal adrenoleukodystrophy.

W W Chen, P A Watkins, T Osumi, T Hashimoto, H W Moser

Proc Natl Acad Sci U S A. 1987 Mar; 84(5): 1425–1428. doi: 10.1073/pnas.84.5.1425

PMCID:: PMC304443

Summary Page Browse PDF–1000K Cite

Select item 103464544.

Analysis of Altered Flowering Related Genes in a Multi-Silique Rapeseed (Brassica napus L.) Line zws-ms Based on Combination of Genome, Transcriptome and Proteome Data

Liang Chai, Haojie Li, Xiaoguang Zhao, Cheng Cui, Benchuan Zheng, Ka Zhang, Jun Jiang, Jinfang Zhang, Liangcai Jiang

Plants (Basel) 2023 Jul; 12(13): 2429. Published online 2023 Jun 23. doi: 10.3390/plants12132429

PMCID:: PMC10346454

Article PubReader PDF–1.7M Cite

Select item 85314635.

Prenatal diagnosis of zellweger syndrome by fetal MRI: a case report

Joana Diaz, Larry Matsumoto, Jennifer Kucera Neville

Radiol Case Rep. 2021 Dec; 16(12): 3950–3954. Published online 2021 Oct 19. doi: 10.1016/j.radcr.2021.09.055

Correction in:: Radiol Case Rep. 2023 Apr; 18(4): 1652.

PMCID:: PMC8531463

Article PubReader PDF–1.5M Cite

Select item 83431366.

Investigation of Thermomorphogenesis-Related Genes for a Multi-Silique Trait in Brassica napus by Comparative Transcriptome Analysis

Liang Chai, Jinfang Zhang, Haojie Li, Cheng Cui, Jun Jiang, Benchuan Zheng, Lintao Wu, Liangcai Jiang

Front Genet. 2021; 12: 678804. Published online 2021 Jul 23. doi: 10.3389/fgene.2021.678804

PMCID:: PMC8343136

Article PubReader PDF–1.8M Cite

Select item 81487627.

Contribution of Fetal MR Imaging in the Prenatal Diagnosis of Zellweger Syndrome

F. Mochel, A.-G. Grébille, A. Benachi, J. Martinovic, F. Razavi, D. Rabier, I. Simon, N. Boddaert, F. Brunelle, P. Sonigo

AJNR Am J Neuroradiol. 2006 Feb; 27(2): 333–336.

PMCID:: PMC8148762

Article PubReader PDF–215K Cite

Select item 75480698.

Investigation for a multi-silique trait in Brassica napus by alternative splicing analysis

Liang Chai, Jinfang Zhang, Haojie Li, Benchuan Zheng, Jun Jiang, Cheng Cui, Liangcai Jiang

PeerJ. 2020; 8: e10135. Published online 2020 Oct 8. doi: 10.7717/peerj.10135

PMCID:: PMC7548069

Article PubReader PDF–2.7M Cite

Select item 64808879.

Identification of genomic regions associated with multi-silique trait in Brassica napus

Liang Chai, Jinfang Zhang, Kun Lu, Haojie Li, Lintao Wu, Hongshen Wan, Benchuan Zheng, Cheng Cui, Jun Jiang, Liangcai Jiang

BMC Genomics. 2019; 20: 304. Published online 2019 Apr 23. doi: 10.1186/s12864-019-5675-4

PMCID:: PMC6480887

Article PubReader PDF–4.7M Cite

Select item 560233110.

Zellweger syndrome: Depiction of MRI findings in early infancy at 3.0 Tesla

Cory M Pfeifer, Carlos A Martinot

Neuroradiol J. 2017 Oct; 30(5): 442–444. Published online 2017 Apr 28. doi: 10.1177/1971400917700670

PMCID:: PMC5602331

Article PubReader Cite

Select item 324966211.

Fatigue behavior in water of Y-TZP zirconia ceramics after abrasion with 30 µm silica-coated alumina particles

Susanne S. Scherrer, Maria Cattani-Lorente, Eric Vittecoq, François de Mestral, Jason A. Griggs, H.W. Anselm Wiskott

Dent Mater. Author manuscript; available in PMC 2012 Jan 3.

Published in final edited form as: Dent Mater. 2011 Feb; 27(2): e28–e42. Published online 2010 Nov 5. doi: 10.1016/j.dental.2010.10.003

PMCID:: PMC3249662

Article PubReader PDF–4.8M Cite

Select item 211385812.

Ultrastructural and cytochemical demonstration of peroxisomes in cultured fibroblasts from patients with peroxisomal deficiency disorders

J Cell Biol. 1985 May 1; 100(5): 1789–1792. doi: 10.1083/jcb.100.5.1789

PMCID:: PMC2113858

Summary PDF–547K Cite

Select item 29654913.

Hydroxyeicosatetraenoic acid metabolism in cultured human skin fibroblasts. Evidence for peroxisomal beta-oxidation.

J A Gordon, P H Figard, A A Spector

J Clin Invest. 1990 Apr; 85(4): 1173–1181. doi: 10.1172/JCI114550

PMCID:: PMC296549

Summary Page Browse PDF–1.8M Cite

Select item 929549114.

Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders

Paola Borgia, Simona Baldassari, Nicoletta Pedemonte, Ebba Alkhunaizi, Gianluca D’Onofrio, Domenico Tortora, Elisa Calì, Paolo Scudieri, Ganna Balagura, Ilaria Musante, Maria Cristina Diana, Marina Pedemonte, Maria Stella Vari, Michele Iacomino, Antonella Riva, Roberto Chimenz, Giuseppe D. Mangano, Mohammad Hasan Mohammadi, Mehran Beiraghi Toosi, Farah Ashrafzadeh, Shima Imannezhad, Ehsan Ghayoor Karimiani, Andrea Accogli, Maria Cristina Schiaffino, Mohamad Maghnie, Miguel Angel Soler, Karl Echiverri, Charles K. Abrams, Pasquale Striano, Sara Fortuna, Reza Maroofian, Henry Houlden, Federico Zara, Chiara Fiorillo, Vincenzo Salpietro

Orphanet J Rare Dis. 2022; 17: 286. Published online 2022 Jul 19. doi: 10.1186/s13023-022-02415-5

PMCID:: PMC9295491

Article PubReader PDF–11M Cite

Select item 809828315.

Peroxisomal Disorders: Genotype, Phenotype, Major Neuropathologic Lesions, and Pathogenesis

James M. Powers, Hugo W. Moser

Brain Pathol. 1998 Jan; 8(1): 101–120. Published online 2006 Apr 5. doi: 10.1111/j.1750-3639.1998.tb00139.x

PMCID:: PMC8098283

Summary PDF–356K Cite

Select item 755023316.

First Case of Peroxisomal D-bifunctional Protein Deficiency with Novel HSD17B4 Mutations and Progressive Neuropathy in Korea

Eun Young Bae, Yoonyoung Yi, Han Hyuk Lim, Jiwon M. Lee, Bongjin Lee, Seung Yeon Kim, Yoo-Mi Kim

J Korean Med Sci. 2020 Oct 12; 35(39): e357. Published online 2020 Sep 28. doi: 10.3346/jkms.2020.35.e357

PMCID:: PMC7550233

Article PubReader PDF–2.9M Cite

Select item 696898717.

Mild Zellweger syndrome due to functionally confirmed novel PEX1 variants

Patryk Lipiński, Piotr Stawiński, Małgorzata Rydzanicz, Maria Wypchło, Rafał Płoski, Teresa Joanna Stradomska, Elżbieta Jurkiewicz, Sacha Ferdinandusse, Ronald J. A. Wanders, Frederic M. Vaz, Anna Tylki-Szymańska

J Appl Genet. 2020; 61(1): 87–91. Published online 2019 Oct 18. doi: 10.1007/s13353-019-00523-w

PMCID:: PMC6968987

Article PubReader PDF–2.1M Cite

Select item 688281818.

Study of the interactions of a novel monoclonal antibody, mAb059c, with the hPD-1 receptor

Jingxian Liu, Guiqun Wang, Liu Liu, Runjie Wu, Yi Wu, Cheng Fang, Xinhong Zhou, Jing Jiao, Ying Gu, He Zhou, Zhenhui Xie, Zhiwu Sun, Dakai Chen, Ken Dai, Dongxu Wang, Wei Tang, Teddy Tat Chi Yang

Sci Rep. 2019; 9: 17830. Published online 2019 Nov 28. doi: 10.1038/s41598-019-54231-w

PMCID:: PMC6882818

Article PubReader PDF–2.6M Cite

Select item 584156819.

Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature

Rachel L. Taylor, Mark T. Handley, Sarah Waller, Christopher Campbell, Jill Urquhart, Alison M. Meynert, Jamie M. Ellingford, Deirdre Donnelly, Gisela Wilcox, I. Chris Lloyd, Helen Mundy, David R. FitzPatrick, Charu Deshpande, Jill Clayton-Smith, Graeme C. Black

Invest Ophthalmol Vis Sci. Author manuscript; available in PMC 2018 Mar 7.

Published in final edited form as: Invest Ophthalmol Vis Sci. 2017 Jan 1; 58(1): 594–603. doi: 10.1167/iovs.16-21026

PMCID:: PMC5841568

Article PubReader PDF–1.4M Cite

Select item 459689420.

Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6

Ilham Ratbi, Kim D. Falkenberg, Manou Sommen, Nada Al-Sheqaih, Soukaina Guaoua, Geert Vandeweyer, Jill E. Urquhart, Kate E. Chandler, Simon G. Williams, Neil A. Roberts, Mustapha El Alloussi, Graeme C. Black, Sacha Ferdinandusse, Hind Ramdi, Audrey Heimler, Alan Fryer, Sally-Ann Lynch, Nicola Cooper, Kai Ren Ong, Claire E.L. Smith, Christopher F. Inglehearn, Alan J. Mighell, Claire Elcock, James A. Poulter, Marc Tischkowitz, Sally J. Davies, Abdelaziz Sefiani, Aleksandr A. Mironov, William G. Newman, Hans R. Waterham, Guy Van Camp

Am J Hum Genet. 2015 Oct 1; 97(4): 535–545. Published online 2015 Sep 17. doi: 10.1016/j.ajhg.2015.08.011

PMCID:: PMC4596894

Article PubReader PDF–1.4M Cite

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 1 to 20 of 21

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity