PMC Links for Books (Select 3016636) - PMC

Select item 73992631.

A Rare Coincidence of Sitosterolemia and Familial Mediterranean Fever Identified by Whole Exome Sequencing

Hayato Tada, Masa-aki Kawashiri, Hirofumi Okada, Saori Endo, Yuka Toyoshima, Tetsuo Konno, Atsushi Nohara, Akihiro Inazu, Akira Takao, Hiroshi Mabuchi, Masakazu Yamagishi, Kenshi Hayashi

J Atheroscler Thromb. 2016 Jul 1; 23(7): 884–890. doi: 10.5551/jat.34827

PMCID:: PMC7399263

Abstract Article PDF–1.1M

Select item 66070172.

Sitosterolemia—10 years observation in two sisters

Lara Veit, Gabriella Allegri Machado, Céline Bürer, Oliver Speer, Johannes Häberle

JIMD Rep. 2019 Jul; 48(1): 4–10. Published online 2019 May 28. doi: 10.1002/jmd2.12038

PMCID:: PMC6607017

Abstract Article PDF–1.5M

Select item 64858113.

Clinical features and genetic analysis of childhood sitosterolemia: Two case reports and literature review

Dan Huang, Qiong Zhou, Yun-Qi Chao, Chao-Chun Zou

Medicine (Baltimore) 2019 Apr; 98(15): e15013. Published online 2019 Apr 12. doi: 10.1097/MD.0000000000015013

PMCID:: PMC6485811

Abstract Article PDF–812K

Select item 61437794.

Sitosterolemia, Hypercholesterolemia, and Coronary Artery Disease

Hayato Tada, Atsushi Nohara, Akihiro Inazu, Nagahiko Sakuma, Hiroshi Mabuchi, Masa-aki Kawashiri

J Atheroscler Thromb. 2018 Sep 1; 25(9): 783–789. doi: 10.5551/jat.RV17024

PMCID:: PMC6143779

Abstract Article PDF–1.7M

Select item 53212875.

Sitosterolemia Presenting as Pseudohomozygous Familial Hypercholesterolemia

Christian Renner, William E. Connor, Robert D. Steiner

Clin Med Res. 2016 Jun; 14(2): 103–108. doi: 10.3121/cmr.2016.1294

PMCID:: PMC5321287

Abstract Article PDF–312K

Select item 52952476.

A case of sitosterolemia due to compound heterozygous mutations in ABCG5: clinical features and treatment outcomes obtained with colestimide and ezetimibe

Sahoko Ono, Junko Matsuda, Aki Saito, Takenobu Yamamoto, Wataru Fujimoto, Hitomi Shimizu, Sumito Dateki, Kazunobu Ouchi

Clin Pediatr Endocrinol. 2017 Jan; 26(1): 17–23. Published online 2017 Jan 31. doi: 10.1297/cpe.26.17

PMCID:: PMC5295247

Abstract Article PDF–1.1M

Select item 48675657.

Development of a diagnostic DNA chip to screen for 30 autosomal recessive disorders in the Hutterite population

Barbara Triggs‐Raine, Tamara Dyck, Kym M. Boycott, A. Micheil Innes, Carole Ober, Jillian S. Parboosingh, Alexis Botkin, Cheryl R. Greenberg, Elizabeth L. Spriggs

Mol Genet Genomic Med. 2016 May; 4(3): 312–321. Published online 2016 Jan 19. doi: 10.1002/mgg3.206

PMCID:: PMC4867565

Abstract Article PDF–414K

Select item 46811168.

Lipids, obesity and gallbladder disease in women: insights from genetic studies using the cardiovascular gene-centric 50K SNP array

Santiago Rodriguez, Tom R Gaunt, Yiran Guo, Jie Zheng, Michael R Barnes, Weihang Tang, Fazal Danish, Andrew Johnson, Berta A Castillo, Yun R Li, Hakon Hakonarson, Sarah G Buxbaum, Tom Palmer, Michael Y Tsai, Leslie A Lange, Shah Ebrahim, George Davey Smith, Debbie A Lawlor, Aaron R Folsom, Ron Hoogeveen, Alex Reiner, Brendan Keating, Ian NM Day

Eur J Hum Genet. 2016 Jan; 24(1): 106–112. Published online 2015 Apr 29. doi: 10.1038/ejhg.2015.63

PMCID:: PMC4681116

Abstract Article PDF–744K

Select item 45447539.

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

Abstract Article PDF–960K

Select item 381774010.

The ABCG8 G574R Variant, Serum Plant Sterol Levels, and Cardiovascular Disease Risk in the Old Order Amish

Richard B. Horenstein, Braxton D. Mitchell, Wendy S. Post, Dieter Lütjohann, Klaus von Bergmann, Kathleen A. Ryan, Michael Terrin, Alan R. Shuldiner, Nanette I. Steinle

Arterioscler Thromb Vasc Biol. Author manuscript; available in PMC 2013 Nov 5.

Published in final edited form as: Arterioscler Thromb Vasc Biol. 2013 Feb; 33(2): 10.1161/ATVBAHA.112.245480. Published online 2012 Dec 13. doi: 10.1161/ATVBAHA.112.245480

PMCID:: PMC3817740

Abstract Article PDF–2.0M

Select item 348465711.

A Population-Based Study of Autosomal-Recessive Disease-Causing Mutations in a Founder Population

Jessica X. Chong, Rebecca Ouwenga, Rebecca L. Anderson, Darrel J. Waggoner, Carole Ober

Am J Hum Genet. 2012 Oct 5; 91(4): 608–620. doi: 10.1016/j.ajhg.2012.08.007

PMCID:: PMC3484657

Abstract Article PDF–274K

Select item 330236112.

Serum lipids, plant sterols, and cholesterol kinetic responses to plant sterol supplementation in phytosterolemia heterozygotes and control individuals

Semone B Myrie, David Mymin, Barbara Triggs-Raine, Peter JH Jones

Am J Clin Nutr. 2012 Apr; 95(4): 837–844. Published online 2012 Feb 29. doi: 10.3945/ajcn.111.028985

PMCID:: PMC3302361

Abstract Article PDF–268K

Select item 295732313.

Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia

Jonathan Rios, Evan Stein, Jay Shendure, Helen H. Hobbs, Jonathan C. Cohen

Hum Mol Genet. 2010 Nov 15; 19(22): 4313–4318. Published online 2010 Aug 18. doi: 10.1093/hmg/ddq352

PMCID:: PMC2957323

Abstract Article PDF–220K

Select item 139191414.

Liver Transplantation in a Patient With Sitosterolemia and Cirrhosis

TATU A. MIETTINEN, ERIC L. KLETT, HELENA GYLLING, HELENA ISONIEMI, SHAILENDRA B. PATEL

Gastroenterology. Author manuscript; available in PMC 2006 Mar 7.

Published in final edited form as: Gastroenterology. 2006 Feb; 130(2): 542–547. doi: 10.1053/j.gastro.2005.10.022

PMCID:: PMC1391914

Abstract Article PDF–1.2M

Select item 135099215.

Genetic basis of sitosterolemia

Mi-Hye Lee, Kangmo Lu, Shailesh B. Patel

Curr Opin Lipidol. Author manuscript; available in PMC 2006 Jan 25.

Published in final edited form as: Curr Opin Lipidol. 2001 Apr; 12(2): 141–149. doi: 10.1097/00041433-200104000-00007

PMCID:: PMC1350992

Abstract Article PDF–754K

Select item 120154416.

Two Genes That Map to the STSL Locus Cause Sitosterolemia: Genomic Structure and Spectrum of Mutations Involving Sterolin-1 and Sterolin-2, Encoded by ABCG5 and ABCG8, Respectively

Kangmo Lu, Mi-Hye Lee, Starr Hazard, Angela Brooks-Wilson, Hideki Hidaka, Hideto Kojima, Leiv Ose, Anton F. H. Stalenhoef, Tatu Mietinnen, Ingemar Bjorkhem, Eric Bruckert, Arti Pandya, H. Bryan Brewer, Jr., Gerald Salen, Michael Dean, Anand Srivastava, Shailendra B. Patel

Am J Hum Genet. 2001 Aug; 69(2): 278–290. Published online 2001 Jul 9. doi: 10.1086/321294

PMCID:: PMC1201544

Abstract Article PDF–410K

Select item 120153917.

Sitosterolaemia in Switzerland: molecular genetics links the US Amish-Mennonites to their European roots

C Solcà, Z Stanga, B Pandit, P Diem, J Greeve, SB Patel

Clin Genet. Author manuscript; available in PMC 2005 Sep 13.

Published in final edited form as: Clin Genet. 2005 Aug; 68(2): 174–178. doi: 10.1111/j.1399-0004.2005.00472.x

PMCID:: PMC1201539

Abstract Article PDF–357K

Select item 33308818.

β-Sitosterolemia and Xanthomatosis: A NEWLY DESCRIBED LIPID STORAGE DISEASE IN TWO SISTERS

Ashim K. Bhattacharyya, William E. Connor

J Clin Invest. 1974 Apr; 53(4): 1033–1043. doi: 10.1172/JCI107640

PMCID:: PMC333088

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