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Select item 98783321.

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

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Select item 95191492.

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

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Select item 92072993.

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

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Select item 90184584.

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

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Select item 83936125.

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

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Select item 83664766.

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

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Select item 82980707.

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

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Select item 80337358.

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

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Select item 79949369.

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

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Select item 789020610.

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

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Select item 781616311.

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

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Select item 765324712.

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

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Select item 759426413.

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

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Select item 743216114.

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

PMCID:: PMC7432161

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Select item 731673815.

Smith–Lemli–Opitz syndrome: what is the actual risk for couples carriers of the DHCR7:c.964-1G>C variant?

Hagit Daum, Vardiella Meiner, Rachel Michaelson-Cohen, Rivka Sukenik-Halevy, Michal Levy Zalcberg, Anat Bar-Ziv, A. Tzvi Weiden, Sholem Y. Scher, Mordechai Shohat, Joël Zlotogora

Eur J Hum Genet. 2020 Jul; 28(7): 938–942. Published online 2020 Feb 13. doi: 10.1038/s41431-020-0577-0

PMCID:: PMC7316738

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Select item 716714816.

Fatal adenovirus type 7b infection in a child with Smith‐Lemli‐Opitz syndrome

A. Beby‐Defaux, L. Maille, S. Chabot, A. Nassimi, D. Oriot, G. Agius

J Med Virol. 2001 Sep; 65(1): 66–69. Published online 2001 Jul 31. doi: 10.1002/jmv.2002

PMCID:: PMC7167148

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Select item 705573417.

Statins for Smith‐Lemli‐Opitz syndrome

Rami A Ballout, Simona Bianconi, Alicia Livinski, Yi‐Ping Fu, Alan T Remaley, Forbes D Porter, Cochrane Cystic Fibrosis and Genetic Disorders Group

Cochrane Database Syst Rev. 2020; 2020(1): CD013521. Published online 2020 Jan 15. doi: 10.1002/14651858.CD013521

Update in:: Cochrane Database Syst Rev. 2022; 2022(11): CD013521.

PMCID:: PMC7055734

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Select item 630998718.

Spontaneously regressing brain lesions in Smith-Lemli-Opitz syndrome

An N. Dang Do, Eva H. Baker, Katherine E. Warren, Simona E. Bianconi, Forbes D. Porter

Am J Med Genet A. Author manuscript; available in PMC 2019 Feb 1.

Published in final edited form as: Am J Med Genet A. 2018 Feb; 176(2): 386–390. Published online 2017 Dec 11. doi: 10.1002/ajmg.a.38563

PMCID:: PMC6309987

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Select item 608565019.

Smith–Lemli–Opitz syndrome presenting as acute adrenal crisis in a child: a case report

Chamara Jayamanne, Sajith Sandamal, Kasun Jayasundara, Mayoorathy Saranavabavananthan, Sachith Mettananda

J Med Case Rep. 2018; 12: 217. Published online 2018 Aug 10. doi: 10.1186/s13256-018-1738-4

PMCID:: PMC6085650

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Select item 601683020.

Normal IQ is possible in Smith-Lemli-Opitz syndrome

Yasemen Eroglu, Mina Nguyen-Driver, Robert D. Steiner, Louise Merkens, Mark Merkens, Jean-Baptiste Roullet, Ellen Elias, Geeta Sarphare, Forbes D. Porter, Chumei Li, Elaine Tierney, Małgorzata J. Nowaczyk, Kurt A. Freeman

Am J Med Genet A. Author manuscript; available in PMC 2018 Jun 25.

Published in final edited form as: Am J Med Genet A. 2017 Aug; 173(8): 2097–2100. Published online 2017 Mar 27. doi: 10.1002/ajmg.a.38125