PMC Articles for MedGen (Select 61231) - PMC

Result Filters

Links from MedGen

Items: 1 to 20 of 187

<< First< Prev

Page of 10

Next >Last >>

Select item 106985651.

Cholic acid increases plasma cholesterol in Smith-Lemli-Opitz syndrome: A pilot study

Ellen R. Elias, Lucas E. Orth, Amy Li, Libin Xu, Sara M. Jones, William B. Rizzo

Mol Genet Metab Rep. 2024 Mar; 38: 101030. Published online 2023 Nov 28. doi: 10.1016/j.ymgmr.2023.101030

PMCID:: PMC10698565

Article PDF–550K

Select item 106902072.

Temporal gene expression changes and affected pathways in neurodevelopment of a mouse model of Smith-Lemli-Opitz syndrome

Amy Li, Hideaki Tomita, Libin Xu

Version 1. bioRxiv. Preprint. 2023 Nov 21. doi: 10.1101/2023.11.21.568116

PMCID:: PMC10690207

Article PDF–3.7M

Select item 106558133.

Sterol dysregulation in Smith–Lemli–Opitz syndrome causes astrocyte immune reactivity through microglia crosstalk

Bethany A. Freel, Benjamin A. Kelvington, Sonali Sengupta, Malini Mukherjee, Kevin R. Francis

Dis Model Mech. 2022 Dec 1; 15(12): dmm049843. Published online 2022 Dec 16. doi: 10.1242/dmm.049843

PMCID:: PMC10655813

Article

Select item 105929344.

MALDI-IM-MS Imaging of Brain Sterols and Lipids in a Mouse Model of Smith-Lemli-Opitz Syndrome

Amy Li, Libin Xu

Version 1. bioRxiv. Preprint. 2023 Oct 2. doi: 10.1101/2023.10.02.560415

PMCID:: PMC10592934

Article PDF–2.4M

Select item 99395765.

Keeping you on your toes: Smith–Lemli–Opitz Syndrome is an easily missed cause of developmental delays

Simone Coupe, Ashley Hertzog, Carolyn Foran, Adviye Ayper Tolun, Megan Suthern, Clara W. T. Chung, Carolyn Ellaway

Clin Case Rep. 2023 Feb; 11(2): e6920. Published online 2023 Feb 19. doi: 10.1002/ccr3.6920

PMCID:: PMC9939576

Article PDF–440K

Select item 98783326.

Smith-Lemli-Opitz syndrome: A pathophysiological manifestation of the Bloch hypothesis

Amitabha Chattopadhyay, Ashwani Sharma

Front Mol Biosci. 2023; 10: 1120373. Published online 2023 Jan 12. doi: 10.3389/fmolb.2023.1120373

PMCID:: PMC9878332

Article PDF–2.2M

Select item 96618767.

Statins for Smith‐Lemli‐Opitz syndrome

Cochrane Database Syst Rev. 2022; 2022(11): CD013521. Published online 2022 Nov 14. doi: 10.1002/14651858.CD013521.pub2

PMCID:: PMC9661876

Article PDF–4.2M

Select item 95191498.

7-Dehydrocholesterol-derived oxysterols cause neurogenic defects in Smith-Lemli-Opitz syndrome

Hideaki Tomita, Kelly M Hines, Josi M Herron, Amy Li, David W Baggett, Libin Xu

eLife. 2022; 11: e67141. Published online 2022 Sep 16. doi: 10.7554/eLife.67141

PMCID:: PMC9519149

Article PDF–16M

Select item 92072999.

Measurement of 7-dehydrocholesterol and cholesterol in hair can be used in the diagnosis of Smith-Lemli-Opitz syndrome

Yitao Luo, Chengqiang Zhang, Li Ma, Yuxiao Zhang, Zhengyuan Liu, Li Chen, Rui Wang, Yujing Luan, Yulan Rao

J Lipid Res. 2022 Jun; 63(6): 100228. Published online 2022 May 14. doi: 10.1016/j.jlr.2022.100228

PMCID:: PMC9207299

Article PDF–2.1M

Select item 901845810.

Temporal Changes in the Brain Lipidome During Neurodevelopment of Smith-Lemli-Opitz Syndrome Mice

Amy Li, Kelly M. Hines, Dylan H. Ross, James W. MacDonald, Libin Xu

Analyst. Author manuscript; available in PMC 2023 Apr 11.

Published in final edited form as: Analyst. 2022 Apr 11; 147(8): 1611–1621. Published online 2022 Apr 11. doi: 10.1039/d2an00137c

PMCID:: PMC9018458

Article PDF–2.0M

Select item 839361211.

Biochemical and Clinical Effects of Vitamin E Supplementation in Hungarian Smith-Lemli-Opitz Syndrome Patients

Katalin Koczok, László Horváth, Zeljka Korade, Zoltán András Mezei, Gabriella P. Szabó, Ned A. Porter, Eszter Kovács, Károly Mirnics, István Balogh

Biomolecules. 2021 Aug; 11(8): 1228. Published online 2021 Aug 17. doi: 10.3390/biom11081228

PMCID:: PMC8393612

Article PDF–1.1M

Select item 836647612.

Smith-Lemli-Opitz Syndrome: Bosnian and Herzegovinian Experience

N Begic, Z Begic, E Begic

Balkan J Med Genet. 2021 Jun; 24(1): 99–102. Published online 2021 Jul 27. doi: 10.2478/bjmg-2021-0002

PMCID:: PMC8366476

Article PDF–449K

Select item 829807013.

A Case of Smith-Lemli-Opitz Syndrome Diagnosed with Hypertrophic Pyloric Stenosis

Elif Ece Eren, Nurbanu Bilgin, Nafiye Urganci, Gulsen Kose

Sisli Etfal Hastan Tip Bul. 2021; 55(2): 268–271. Published online 2021 Jul 2. doi: 10.14744/SEMB.2020.34651

PMCID:: PMC8298070

Article PDF–654K

Select item 803373514.

Carrier frequency and incidence estimation of Smith–Lemli–Opitz syndrome in East Asian populations by Genome Aggregation Database (gnomAD) based analysis

Jong Eun Park, Taeheon Lee, Kyeongsu Ha, Chang-Seok Ki

Orphanet J Rare Dis. 2021; 16: 166. Published online 2021 Apr 9. doi: 10.1186/s13023-021-01789-2

PMCID:: PMC8033735

Article PDF–676K

Select item 799493615.

Auditory phenotype of Smith–Lemli–Opitz syndrome

Christopher K. Zalewski, Sarah A. Sydlowski, Kelly A. King, Simona Bianconi, An Dang Do, Forbes D. Porter, Carmen C. Brewer

Am J Med Genet A. Author manuscript; available in PMC 2021 Apr 1.

Published in final edited form as: Am J Med Genet A. 2021 Apr; 185(4): 1131–1141. Published online 2021 Feb 2. doi: 10.1002/ajmg.a.62087

PMCID:: PMC7994936

Article PDF–498K

Select item 789020616.

Generation and validation of a conditional knockout mouse model for the study of the Smith-Lemli-Opitz syndrome

Babunageswararao Kanuri, Vincent Fong, Sithara Raju Ponny, Keri A. Tallman, Sriganesh Ramachandra Rao, Ned Porter, Steven J. Fliesler, Shailendra B. Patel

J Lipid Res. 2021; 62: 100002. Published online 2020 Nov 22. doi: 10.1194/jlr.RA120001101

PMCID:: PMC7890206

Article PDF–3.2M

Select item 781616317.

Bile acid biosynthesis in Smith-Lemli-Opitz syndrome bypassing cholesterol: Potential importance of pathway intermediates

Jonas Abdel-Khalik, Thomas Hearn, Alison L. Dickson, Peter J. Crick, Eylan Yutuc, Karl Austin-Muttitt, Brian W. Bigger, Andrew A. Morris, Cedric H. Shackleton, Peter T. Clayton, Takashi Iida, Ria Sircar, Rajat Rohatgi, Hanns-Ulrich Marschall, Jan Sjövall, Ingemar Björkhem, Jonathan G.L. Mullins, William J. Griffiths, Yuqin Wang

J Steroid Biochem Mol Biol. 2021 Feb; 206: 105794. doi: 10.1016/j.jsbmb.2020.105794

PMCID:: PMC7816163

Article

Select item 765324718.

Familial DHCR7 genotype presenting as a very mild form of Smith‐Lemli‐Opitz syndrome and lethal holoprosencephaly

Suzanna E. L. Temple, Rani Sachdev, Carolyn Ellaway

JIMD Rep. 2020 Nov; 56(1): 3–8. Published online 2020 Aug 9. doi: 10.1002/jmd2.12155

PMCID:: PMC7653247

Article PDF–5.7M

Select item 759426419.

Dietary cholesterol supplementation and inhibitory factor 1 serum levels in two dizygotic Smith-Lemli-Opitz syndrome twins: a case report

Maurizio Delvecchio, Biagio Rapone, Simonetta Simonetti, Simona Fecarotta, Graziana De Carlo, Elvira Favoino, Maria Teresa Loverro, Anna Maria Isdraele Romano, Federica Taurino, Edoardo Di Naro, Antonio Gnoni

Ital J Pediatr. 2020; 46: 161. Published online 2020 Oct 28. doi: 10.1186/s13052-020-00924-2

PMCID:: PMC7594264

Article PDF–669K

Select item 743216120.

Smith‐Lemli‐Opitz syndrome — Fetal phenotypes with special reference to the syndrome‐specific internal malformation pattern

Katharina Schoner, Martina Witsch‐Baumgartner, Jana Behunova, Robert Petrovic, Rainer Bald, Susanne G. Kircher, Annette Ramaswamy, Britta Kluge, Matthias Meyer‐Wittkopf, Ralf Schmitz, Barbara Fritz, Johannes Zschocke, Franco Laccone, Helga Rehder

Birth Defects Res. 2020 Jan 15; 112(2): 175–185. Published online 2019 Dec 16. doi: 10.1002/bdr2.1620