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Abnormal sterol metabolism in holoprosencephaly.
Am J Med Genet C Semin Med Genet. 2010 Feb 15;154C(1):102-8. doi: 10.1002/ajmg.c.30243.
2
Abnormal sterol metabolism in holoprosencephaly: studies in cultured lymphoblasts.
J Med Genet. 2007 May;44(5):298-305. doi: 10.1136/jmg.2006.047258. Epub 2007 Jan 19.
4
Teratogenesis of holoprosencephaly.
Am J Med Genet. 2002 Apr 15;109(1):1-15. doi: 10.1002/ajmg.10258.
6
Holoprosencephaly in RSH/Smith-Lemli-Opitz syndrome: does abnormal cholesterol metabolism affect the function of Sonic Hedgehog?
Am J Med Genet. 1996 Dec 30;66(4):478-84. doi: 10.1002/(SICI)1096-8628(19961230)66:4<478::AID-AJMG22>3.0.CO;2-Q.
7
Ectopic sonic hedgehog signaling impairs telencephalic dorsal midline development: implication for human holoprosencephaly.
Hum Mol Genet. 2007 Jun 15;16(12):1454-68. doi: 10.1093/hmg/ddm096. Epub 2007 Apr 27.
8
Modeling the complex etiology of holoprosencephaly in mice.
Am J Med Genet C Semin Med Genet. 2018 Jun;178(2):140-150. doi: 10.1002/ajmg.c.31611. Epub 2018 May 11.
9
Boc modifies the holoprosencephaly spectrum of Cdo mutant mice.
Dis Model Mech. 2011 May;4(3):368-80. doi: 10.1242/dmm.005744. Epub 2010 Dec 23.
10
The ups and downs of holoprosencephaly: dorsal versus ventral patterning forces.
Clin Genet. 2008 May;73(5):413-23. doi: 10.1111/j.1399-0004.2008.00994.x. Epub 2008 Apr 2.

引用本文的文献

1
Holoprosencephaly: Review of Embryology, Clinical Phenotypes, Etiology and Management.
Children (Basel). 2023 Mar 30;10(4):647. doi: 10.3390/children10040647.
2
Analysis of Gene-Environment Interactions Related to Developmental Disorders.
Front Pharmacol. 2022 Mar 17;13:863664. doi: 10.3389/fphar.2022.863664. eCollection 2022.
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Identifying environmental risk factors and gene-environment interactions in holoprosencephaly.
Birth Defects Res. 2021 Jan 1;113(1):63-76. doi: 10.1002/bdr2.1834. Epub 2020 Oct 28.
5
Statins for Smith-Lemli-Opitz syndrome.
Cochrane Database Syst Rev. 2020;2020(1). doi: 10.1002/14651858.cd013521.
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Interplay between β-carotene and lipoprotein metabolism at the maternal-fetal barrier.
Biochim Biophys Acta Mol Cell Biol Lipids. 2020 Nov;1865(11):158591. doi: 10.1016/j.bbalip.2019.158591. Epub 2019 Dec 19.
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Targeting the Multidrug Transporter Ptch1 Potentiates Chemotherapy Efficiency.
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9
Syndromes associated with holoprosencephaly.
Am J Med Genet C Semin Med Genet. 2018 Jun;178(2):229-237. doi: 10.1002/ajmg.c.31620. Epub 2018 May 17.
10
Modeling the complex etiology of holoprosencephaly in mice.
Am J Med Genet C Semin Med Genet. 2018 Jun;178(2):140-150. doi: 10.1002/ajmg.c.31611. Epub 2018 May 11.

本文引用的文献

1
Cyclopia (synophthalmia) in Smith-Lemli-Opitz syndrome: First reported case and consideration of mechanism.
Am J Med Genet C Semin Med Genet. 2010 Feb 15;154C(1):142-5. doi: 10.1002/ajmg.c.30241.
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Analysis of genotype-phenotype correlations in human holoprosencephaly.
Am J Med Genet C Semin Med Genet. 2010 Feb 15;154C(1):133-41. doi: 10.1002/ajmg.c.30240.
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The molecular genetics of holoprosencephaly.
Am J Med Genet C Semin Med Genet. 2010 Feb 15;154C(1):52-61. doi: 10.1002/ajmg.c.30236.
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Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans.
Hum Genet. 2009 May;125(4):393-400. doi: 10.1007/s00439-009-0628-7. Epub 2009 Jan 31.
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Maternal exposure to statins and risk for birth defects: a case-series approach.
Am J Med Genet A. 2008 Oct 15;146A(20):2701-5. doi: 10.1002/ajmg.a.32493.
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Adverse birth outcome among mothers with low serum cholesterol.
Pediatrics. 2007 Oct;120(4):723-33. doi: 10.1542/peds.2006-1939.
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Abnormal sterol metabolism in holoprosencephaly: studies in cultured lymphoblasts.
J Med Genet. 2007 May;44(5):298-305. doi: 10.1136/jmg.2006.047258. Epub 2007 Jan 19.
9
Oxysterols stimulate Sonic hedgehog signal transduction and proliferation of medulloblastoma cells.
Proc Natl Acad Sci U S A. 2006 May 30;103(22):8408-13. doi: 10.1073/pnas.0602852103. Epub 2006 May 17.

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