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Biochemical and Physiological Improvement in a Mouse Model of Smith-Lemli-Opitz Syndrome (SLOS) Following Gene Transfer with AAV Vectors.

Molecular genetics and metabolism reports

Ying L, Matabosch X, Serra M, Watson B, Shackleton C, Watson G.
PMID: 25024934
Mol Genet Metab Rep. 2014;1:103-113. doi: 10.1016/j.ymgmr.2014.02.002.

Smith-Lemli-Opitz syndrome (SLOS) is an inborn error of cholesterol synthesis resulting from a defect in 7-dehydrocholesterol reductase (DHCR7), the enzyme that produces cholesterol from its immediate precursor 7-dehydrocholesterol. Current therapy employing dietary cholesterol is inadequate. As SLOS is caused...

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Ying L, Matabosch X, Serra M, et al. Biochemical and Physiological Improvement in a Mouse Model of Smith-Lemli-Opitz Syndrome (SLOS) Following Gene Transfer with AAV Vectors. Mol Genet Metab Rep. 2014;1:103-113doi: 10.1016/j.ymgmr.2014.02.002.
Ying, L., Matabosch, X., Serra, M., Watson, B., Shackleton, C., & Watson, G. (2014). Biochemical and Physiological Improvement in a Mouse Model of Smith-Lemli-Opitz Syndrome (SLOS) Following Gene Transfer with AAV Vectors. Molecular genetics and metabolism reports, 1103-113. https://doi.org/10.1016/j.ymgmr.2014.02.002
Ying, Lee, et al. "Biochemical and Physiological Improvement in a Mouse Model of Smith-Lemli-Opitz Syndrome (SLOS) Following Gene Transfer with AAV Vectors." Molecular genetics and metabolism reports vol. 1 (2014): 103-113. doi: https://doi.org/10.1016/j.ymgmr.2014.02.002
Ying L, Matabosch X, Serra M, Watson B, Shackleton C, Watson G. Biochemical and Physiological Improvement in a Mouse Model of Smith-Lemli-Opitz Syndrome (SLOS) Following Gene Transfer with AAV Vectors. Mol Genet Metab Rep. 2014;1:103-113. doi: 10.1016/j.ymgmr.2014.02.002. PMID: 25024934; PMCID: PMC4093838.
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Smith-Lemli-Opitz-syndrome.

Indian journal of human genetics

Gedam R, Shah I, Ali U, Ohri A.
PMID: 23162303
Indian J Hum Genet. 2012 May;18(2):235-7. doi: 10.4103/0971-6866.100779.

Smith-Lemli-Opitz syndrome is an autosomal recessively inherited disorder. A severe defect in cholesterol biosynthesis has been identified leading to abnormally low plasma cholesterol levels and elevated levels of the cholesterol precursor 7-dehydrocholesterol, the result of deficiency of 7-dehydrocholesterol reductase....

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Gedam R, Shah I, Ali U, et al. Smith-Lemli-Opitz-syndrome. Indian J Hum Genet. 2012;18(2):235-7doi: 10.4103/0971-6866.100779.
Gedam, R., Shah, I., Ali, U., & Ohri, A. (2012). Smith-Lemli-Opitz-syndrome. Indian journal of human genetics, 18(2), 235-7. https://doi.org/10.4103/0971-6866.100779
Gedam, Rachana, et al. "Smith-Lemli-Opitz-syndrome." Indian journal of human genetics vol. 18,2 (2012): 235-7. doi: https://doi.org/10.4103/0971-6866.100779
Gedam R, Shah I, Ali U, Ohri A. Smith-Lemli-Opitz-syndrome. Indian J Hum Genet. 2012 May;18(2):235-7. doi: 10.4103/0971-6866.100779. PMID: 23162303; PMCID: PMC3491301.
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Smith-Lemli-Opitz Syndrome: Bosnian and Herzegovinian Experience.

Balkan journal of medical genetics : BJMG

Begic N, Begic Z, Begic E.
PMID: 34447666
Balkan J Med Genet. 2021 Jul 27;24(1):99-102. doi: 10.2478/bjmg-2021-0002. eCollection 2021 Jun.

The aim of this paper is to present a patient with the Smith-Lemli-Opitz syndrome (SLOS), with an overview of the modality of diagnosis, and the treatment of the patient. Exome analysis showed two variants in exon 6 of the...

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Begic N, Begic Z, Begic E. Smith-Lemli-Opitz Syndrome: Bosnian and Herzegovinian Experience. Balkan J Med Genet. 2021;24(1):99-102doi: 10.2478/bjmg-2021-0002.
Begic, N., Begic, Z., & Begic, E. (2021). Smith-Lemli-Opitz Syndrome: Bosnian and Herzegovinian Experience. Balkan journal of medical genetics : BJMG, 24(1), 99-102. https://doi.org/10.2478/bjmg-2021-0002
Begic, N, et al. "Smith-Lemli-Opitz Syndrome: Bosnian and Herzegovinian Experience." Balkan journal of medical genetics : BJMG vol. 24,1 (2021): 99-102. doi: https://doi.org/10.2478/bjmg-2021-0002
Begic N, Begic Z, Begic E. Smith-Lemli-Opitz Syndrome: Bosnian and Herzegovinian Experience. Balkan J Med Genet. 2021 Jul 27;24(1):99-102. doi: 10.2478/bjmg-2021-0002. eCollection 2021 Jun. PMID: 34447666; PMCID: PMC8366476.
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Sterol Biosynthesis Inhibition in Pregnant Women Taking Prescription Medications.

ACS pharmacology & translational science

Genaro-Mattos TC, Klingelsmith KB, Allen LB, Anderson A, Tallman KA, Porter NA, Korade Z, Mirnics K.
PMID: 33860207
ACS Pharmacol Transl Sci. 2021 Feb 17;4(2):848-857. doi: 10.1021/acsptsci.1c00012. eCollection 2021 Apr 09.

Sterol biosynthesis is a critical homeostatic mechanism of the body. Sterol biosynthesis begins during early embryonic life and continues throughout life. Many commonly used medications, prescribed >200 million times in the United States annually, have a sterol biosynthesis inhibition...

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Genaro-Mattos TC, Klingelsmith KB, Allen LB, et al. Sterol Biosynthesis Inhibition in Pregnant Women Taking Prescription Medications. ACS Pharmacol Transl Sci. 2021;4(2):848-857doi: 10.1021/acsptsci.1c00012.
Genaro-Mattos, T. C., Klingelsmith, K. B., Allen, L. B., Anderson, A., Tallman, K. A., Porter, N. A., Korade, Z., & Mirnics, K. (2021). Sterol Biosynthesis Inhibition in Pregnant Women Taking Prescription Medications. ACS pharmacology & translational science, 4(2), 848-857. https://doi.org/10.1021/acsptsci.1c00012
Genaro-Mattos, Thiago C, et al. "Sterol Biosynthesis Inhibition in Pregnant Women Taking Prescription Medications." ACS pharmacology & translational science vol. 4,2 (2021): 848-857. doi: https://doi.org/10.1021/acsptsci.1c00012
Genaro-Mattos TC, Klingelsmith KB, Allen LB, Anderson A, Tallman KA, Porter NA, Korade Z, Mirnics K. Sterol Biosynthesis Inhibition in Pregnant Women Taking Prescription Medications. ACS Pharmacol Transl Sci. 2021 Feb 17;4(2):848-857. doi: 10.1021/acsptsci.1c00012. eCollection 2021 Apr 09. PMID: 33860207; PMCID: PMC8033759.
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Whole-Exome Sequencing for Identification of Genetic Variants Involved in Vitamin D Metabolic Pathways in Families With Vitamin D Deficiency in Saudi Arabia.

Frontiers in genetics

Alharazy S, Naseer MI, Alissa E, Robertson MD, Lanham-New S, Chaudhary AG.
PMID: 34168679
Front Genet. 2021 Jun 08;12:677780. doi: 10.3389/fgene.2021.677780. eCollection 2021.

BACKGROUND: Numerous research studies have found an association between vitamin D (vitD) status and single-nucleotide polymorphisms (SNPs) in genes involved in vitD metabolism. It is notable that the influence of these SNPs on 25-hydroxyvitamin D [25(OH)D] levels might vary...

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Alharazy S, Naseer MI, Alissa E, et al. Whole-Exome Sequencing for Identification of Genetic Variants Involved in Vitamin D Metabolic Pathways in Families With Vitamin D Deficiency in Saudi Arabia. Front Genet. 2021;12:677780doi: 10.3389/fgene.2021.677780.
Alharazy, S., Naseer, M. I., Alissa, E., Robertson, M. D., Lanham-New, S., & Chaudhary, A. G. (2021). Whole-Exome Sequencing for Identification of Genetic Variants Involved in Vitamin D Metabolic Pathways in Families With Vitamin D Deficiency in Saudi Arabia. Frontiers in genetics, 12677780. https://doi.org/10.3389/fgene.2021.677780
Alharazy, Shatha, et al. "Whole-Exome Sequencing for Identification of Genetic Variants Involved in Vitamin D Metabolic Pathways in Families With Vitamin D Deficiency in Saudi Arabia." Frontiers in genetics vol. 12 (2021): 677780. doi: https://doi.org/10.3389/fgene.2021.677780
Alharazy S, Naseer MI, Alissa E, Robertson MD, Lanham-New S, Chaudhary AG. Whole-Exome Sequencing for Identification of Genetic Variants Involved in Vitamin D Metabolic Pathways in Families With Vitamin D Deficiency in Saudi Arabia. Front Genet. 2021 Jun 08;12:677780. doi: 10.3389/fgene.2021.677780. eCollection 2021. PMID: 34168679; PMCID: PMC8219054.
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Unveiling Genetic Variants Underlying Vitamin D Deficiency in Multiple Korean Cohorts by a Genome-Wide Association Study.

Endocrinology and metabolism (Seoul, Korea)

Kim YA, Yoon JW, Lee Y, Choi HJ, Yun JW, Bae E, Kwon SH, Ahn SE, Do AR, Jin H, Won S, Park DJ, Shin CS, Seo JH.
PMID: 34852423
Endocrinol Metab (Seoul). 2021 Dec 02; doi: 10.3803/EnM.2021.1241. Epub 2021 Dec 02.

BACKGROUND: Epidemiological data have shown that vitamin D deficiency is highly prevalent in Korea. Genetic factors influencing vitamin D deficiency in humans have been studied in Europe but are less known in East Asian countries, including Korea. We aimed...

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Kim YA, Yoon JW, Lee Y, et al. Unveiling Genetic Variants Underlying Vitamin D Deficiency in Multiple Korean Cohorts by a Genome-Wide Association Study. Endocrinol Metab (Seoul). 2021;doi: 10.3803/EnM.2021.1241.
Kim, Y. A., Yoon, J. W., Lee, Y., Choi, H. J., Yun, J. W., Bae, E., Kwon, S. H., Ahn, S. E., Do, A. R., Jin, H., Won, S., Park, D. J., Shin, C. S., & Seo, J. H. (2021). Unveiling Genetic Variants Underlying Vitamin D Deficiency in Multiple Korean Cohorts by a Genome-Wide Association Study. Endocrinology and metabolism (Seoul, Korea), . https://doi.org/10.3803/EnM.2021.1241
Kim, Ye An, et al. "Unveiling Genetic Variants Underlying Vitamin D Deficiency in Multiple Korean Cohorts by a Genome-Wide Association Study." Endocrinology and metabolism (Seoul, Korea) vol. (2021). doi: https://doi.org/10.3803/EnM.2021.1241
Kim YA, Yoon JW, Lee Y, Choi HJ, Yun JW, Bae E, Kwon SH, Ahn SE, Do AR, Jin H, Won S, Park DJ, Shin CS, Seo JH. Unveiling Genetic Variants Underlying Vitamin D Deficiency in Multiple Korean Cohorts by a Genome-Wide Association Study. Endocrinol Metab (Seoul). 2021 Dec 02; doi: 10.3803/EnM.2021.1241. Epub 2021 Dec 02. PMID: 34852423.
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A reliable tool for detecting 7-dehydrocholesterol and cholesterol in human plasma and its use in diagnosis of Smith-Lemli-Opitz syndrome.

Journal of separation science

Luo Y, Liu Z, Zeng Y, Zhang Y, Luan Y, Ma L, Chen L, Zou L, Yang J, Huang Z, Rao Y, Zhang C.
PMID: 34962712
J Sep Sci. 2021 Dec 28; doi: 10.1002/jssc.202100594. Epub 2021 Dec 28.

BACKGROUND: Smith-Lemli-Opitz syndrome is a birth defect caused by the deficiency of 7-dehydrocholesterol reductase in cholesterol biosynthesis pathway, which leads to accumulation of 7-dehydrocholesterol and reduction of cholesterol in body fluids. To effectively diagnose Smith-Lemli-Opitz syndrome and monitor therapy,...

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Luo Y, Liu Z, Zeng Y, et al. A reliable tool for detecting 7-dehydrocholesterol and cholesterol in human plasma and its use in diagnosis of Smith-Lemli-Opitz syndrome. J Sep Sci. 2021;doi: 10.1002/jssc.202100594.
Luo, Y., Liu, Z., Zeng, Y., Zhang, Y., Luan, Y., Ma, L., Chen, L., Zou, L., Yang, J., Huang, Z., Rao, Y., & Zhang, C. (2021). A reliable tool for detecting 7-dehydrocholesterol and cholesterol in human plasma and its use in diagnosis of Smith-Lemli-Opitz syndrome. Journal of separation science, . https://doi.org/10.1002/jssc.202100594
Luo, Yitao, et al. "A reliable tool for detecting 7-dehydrocholesterol and cholesterol in human plasma and its use in diagnosis of Smith-Lemli-Opitz syndrome." Journal of separation science vol. (2021). doi: https://doi.org/10.1002/jssc.202100594
Luo Y, Liu Z, Zeng Y, Zhang Y, Luan Y, Ma L, Chen L, Zou L, Yang J, Huang Z, Rao Y, Zhang C. A reliable tool for detecting 7-dehydrocholesterol and cholesterol in human plasma and its use in diagnosis of Smith-Lemli-Opitz syndrome. J Sep Sci. 2021 Dec 28; doi: 10.1002/jssc.202100594. Epub 2021 Dec 28. PMID: 34962712.
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Unveiling Genetic Variants Underlying Vitamin D Deficiency in Multiple Korean Cohorts by a Genome-Wide Association Study.

Endocrinology and metabolism (Seoul, Korea)

Kim YA, Yoon JW, Lee Y, Choi HJ, Yun JW, Bae E, Kwon SH, Ahn SE, Do AR, Jin H, Won S, Park DJ, Shin CS, Seo JH.
PMID: 34852423
Endocrinol Metab (Seoul). 2021 Dec;36(6):1189-1200. doi: 10.3803/EnM.2021.1241. Epub 2021 Dec 02.

BACKGROUND: Epidemiological data have shown that vitamin D deficiency is highly prevalent in Korea. Genetic factors influencing vitamin D deficiency in humans have been studied in Europe but are less known in East Asian countries, including Korea. We aimed...

Cite
Kim YA, Yoon JW, Lee Y, et al. Unveiling Genetic Variants Underlying Vitamin D Deficiency in Multiple Korean Cohorts by a Genome-Wide Association Study. Endocrinol Metab (Seoul). 2021;36(6):1189-1200doi: 10.3803/EnM.2021.1241.
Kim, Y. A., Yoon, J. W., Lee, Y., Choi, H. J., Yun, J. W., Bae, E., Kwon, S. H., Ahn, S. E., Do, A. R., Jin, H., Won, S., Park, D. J., Shin, C. S., & Seo, J. H. (2021). Unveiling Genetic Variants Underlying Vitamin D Deficiency in Multiple Korean Cohorts by a Genome-Wide Association Study. Endocrinology and metabolism (Seoul, Korea), 36(6), 1189-1200. https://doi.org/10.3803/EnM.2021.1241
Kim, Ye An, et al. "Unveiling Genetic Variants Underlying Vitamin D Deficiency in Multiple Korean Cohorts by a Genome-Wide Association Study." Endocrinology and metabolism (Seoul, Korea) vol. 36,6 (2021): 1189-1200. doi: https://doi.org/10.3803/EnM.2021.1241
Kim YA, Yoon JW, Lee Y, Choi HJ, Yun JW, Bae E, Kwon SH, Ahn SE, Do AR, Jin H, Won S, Park DJ, Shin CS, Seo JH. Unveiling Genetic Variants Underlying Vitamin D Deficiency in Multiple Korean Cohorts by a Genome-Wide Association Study. Endocrinol Metab (Seoul). 2021 Dec;36(6):1189-1200. doi: 10.3803/EnM.2021.1241. Epub 2021 Dec 02. PMID: 34852423.
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A Case of Smith-Lemli-Opitz Syndrome Diagnosed with Hypertrophic Pyloric Stenosis.

Sisli Etfal Hastanesi tip bulteni

Eren EE, Bilgin N, Urganci N, Kose G.
PMID: 34349606
Sisli Etfal Hastan Tip Bul. 2021 Jul 02;55(2):268-271. doi: 10.14744/SEMB.2020.34651. eCollection 2021.

Smith-Lemli-Opitz syndrome (SLOS) is caused by a deficiency in the enzyme 7-dehydrocholesterol reductase (DHCR7) that results in an abnormality in cholesterol metabolism. SLOS is inherited as an autosomal recessive genetic disorder. In this case, we describe a 34-day-old patient...

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Eren EE, Bilgin N, Urganci N, et al. A Case of Smith-Lemli-Opitz Syndrome Diagnosed with Hypertrophic Pyloric Stenosis. Sisli Etfal Hastan Tip Bul. 2021;55(2):268-271doi: 10.14744/SEMB.2020.34651.
Eren, E. E., Bilgin, N., Urganci, N., & Kose, G. (2021). A Case of Smith-Lemli-Opitz Syndrome Diagnosed with Hypertrophic Pyloric Stenosis. Sisli Etfal Hastanesi tip bulteni, 55(2), 268-271. https://doi.org/10.14744/SEMB.2020.34651
Eren, Elif Ece, et al. "A Case of Smith-Lemli-Opitz Syndrome Diagnosed with Hypertrophic Pyloric Stenosis." Sisli Etfal Hastanesi tip bulteni vol. 55,2 (2021): 268-271. doi: https://doi.org/10.14744/SEMB.2020.34651
Eren EE, Bilgin N, Urganci N, Kose G. A Case of Smith-Lemli-Opitz Syndrome Diagnosed with Hypertrophic Pyloric Stenosis. Sisli Etfal Hastan Tip Bul. 2021 Jul 02;55(2):268-271. doi: 10.14744/SEMB.2020.34651. eCollection 2021. PMID: 34349606; PMCID: PMC8298070.
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Altered brain gene expression but not steroid biochemistry in a genetic mouse model of neurodevelopmental disorder.

Molecular autism

Trent S, Fry JP, Ojarikre OA, Davies W.
PMID: 24602487
Mol Autism. 2014 Mar 06;5(1):21. doi: 10.1186/2040-2392-5-21.

BACKGROUND: The 39,XY*O mouse, which lacks the orthologues of the ADHD and autism candidate genes STS (steroid sulphatase) and ASMT (acetylserotonin O-methyltransferase), exhibits behavioural phenotypes relevant to developmental disorders. The neurobiology underlying these phenotypes is unclear, although there is...

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Trent S, Fry JP, Ojarikre OA, et al. Altered brain gene expression but not steroid biochemistry in a genetic mouse model of neurodevelopmental disorder. Mol Autism. 2014;5(1):21doi: 10.1186/2040-2392-5-21.
Trent, S., Fry, J. P., Ojarikre, O. A., & Davies, W. (2014). Altered brain gene expression but not steroid biochemistry in a genetic mouse model of neurodevelopmental disorder. Molecular autism, 5(1), 21. https://doi.org/10.1186/2040-2392-5-21
Trent, Simon, et al. "Altered brain gene expression but not steroid biochemistry in a genetic mouse model of neurodevelopmental disorder." Molecular autism vol. 5,1 (2014): 21. doi: https://doi.org/10.1186/2040-2392-5-21
Trent S, Fry JP, Ojarikre OA, Davies W. Altered brain gene expression but not steroid biochemistry in a genetic mouse model of neurodevelopmental disorder. Mol Autism. 2014 Mar 06;5(1):21. doi: 10.1186/2040-2392-5-21. PMID: 24602487; PMCID: PMC3946266.
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Mutational spectrum of smith-lemli-opitz syndrome patients in hungary.

Molecular syndromology

Balogh I, Koczok K, Szabó GP, Török O, Hadzsiev K, Csábi G, Balogh L, Dzsudzsák E, Ajzner E, Szabó L, Csákváry V, Oláh AV.
PMID: 23293579
Mol Syndromol. 2012 Nov;3(5):215-22. doi: 10.1159/000343923. Epub 2012 Nov 09.

Smith-Lemli-Opitz (SLO) syndrome is an autosomal recessive disorder characterized by multiple congenital abnormalities and mental retardation. The condition is caused by the deficiency of 7-dehydrocholesterol reductase (DHCR7) which catalyzes the final step in cholesterol biosynthesis. Biochemical diagnosis is based...

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Balogh I, Koczok K, Szabó GP, et al. Mutational spectrum of smith-lemli-opitz syndrome patients in hungary. Mol Syndromol. 2012;3(5):215-22doi: 10.1159/000343923.
Balogh, I., Koczok, K., Szabó, G. P., Török, O., Hadzsiev, K., Csábi, G., Balogh, L., Dzsudzsák, E., Ajzner, E., Szabó, L., Csákváry, V., & Oláh, A. V. (2012). Mutational spectrum of smith-lemli-opitz syndrome patients in hungary. Molecular syndromology, 3(5), 215-22. https://doi.org/10.1159/000343923
Balogh, I, et al. "Mutational spectrum of smith-lemli-opitz syndrome patients in hungary." Molecular syndromology vol. 3,5 (2012): 215-22. doi: https://doi.org/10.1159/000343923
Balogh I, Koczok K, Szabó GP, Török O, Hadzsiev K, Csábi G, Balogh L, Dzsudzsák E, Ajzner E, Szabó L, Csákváry V, Oláh AV. Mutational spectrum of smith-lemli-opitz syndrome patients in hungary. Mol Syndromol. 2012 Nov;3(5):215-22. doi: 10.1159/000343923. Epub 2012 Nov 09. PMID: 23293579; PMCID: PMC3531926.
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Novel .

Human genome variation

Tamura M, Isojima T, Kasama T, Mafune R, Shimoda K, Yasudo H, Tanaka H, Takahashi C, Oka A, Kitanaka S.
PMID: 28503313
Hum Genome Var. 2017 May 11;4:17015. doi: 10.1038/hgv.2017.15. eCollection 2017.

Smith-Lemli-Opitz syndrome is an autosomal recessive disease caused by mutations in 7-dehydrocholesterol reductase (

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Tamura M, Isojima T, Kasama T, et al. Novel . Hum Genome Var. 2017;4:17015doi: 10.1038/hgv.2017.15.
Tamura, M., Isojima, T., Kasama, T., Mafune, R., Shimoda, K., Yasudo, H., Tanaka, H., Takahashi, C., Oka, A., & Kitanaka, S. (2017). Novel . Human genome variation, 417015. https://doi.org/10.1038/hgv.2017.15
Tamura, Mayuko, et al. "Novel ." Human genome variation vol. 4 (2017): 17015. doi: https://doi.org/10.1038/hgv.2017.15
Tamura M, Isojima T, Kasama T, Mafune R, Shimoda K, Yasudo H, Tanaka H, Takahashi C, Oka A, Kitanaka S. Novel . Hum Genome Var. 2017 May 11;4:17015. doi: 10.1038/hgv.2017.15. eCollection 2017. PMID: 28503313; PMCID: PMC5425407.
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