Brain magnetic resonance imaging findings in smith-lemli-opitz syndrome-Reference-Cited by-同舟云学术

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Brain magnetic resonance imaging findings in smith-lemli-opitz syndrome

Published:2013-07 Issue: Volume: Page:n/a-n/a
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Lee Ryan W.Y.,Conley Sandra K.¹,Gropman Andrea²,Porter Forbes D.¹,Baker Eva H.³

Affiliation:

1. Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institutes of Health; Bethesda; Maryland

2. Department of Neurology; Children's National Medical Center; Washington; District of Columbia

3. Department of Radiology and Imaging Sciences, Clinical Center; National Institutes of Health; Bethesda; Maryland

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36096/fullpdf

Reference50 articles.

1. Atypical case of Smith-Lemli-Opitz syndrome: Implications for diagnosis;Angle;Am J Med Genet,1998

2. Multiple roles of cholesterol in hedgehog protein biogenesis and signaling;Beachy;Cold Spring Harb Symp Quant Biol,1997

3. Female external genitalia and Müllerian duct derivatives in a 46,XY infant with the Smith-Lemli-Opitz syndrome;Bialer;Am J Med Genet,1987

4. Incidence of Smith-Lemli-Opitz syndrome in Slovakia;Bzduch;Am J Med Genet,2000

5. MRI and 1H MRS findings in Smith-Lemli-Opitz syndrome;Caruso;Neuroradiology,2004

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1. Elevated cerebrospinal fluid glial fibrillary acidic protein levels in Smith-Lemli-Opitz syndrome;Molecular Genetics and Metabolism;2024-09

2. Smith-Lemli-Opitz Syndrome with Biallelic c.1295A>G (p.Tyr432Cys) Variant in the <i>DHCR7</i> Gene in a 73-Year-Old Woman: Report of the Oldest Patient;Molecular Syndromology;2024

3. Elevated Cerebrospinal Fluid Glial Fibrillary Acidic Protein Levels in Smith-Lemli-Opitz Syndrome;2024

4. Temporal gene expression changes and affected pathways in neurodevelopment of a mouse model of Smith-Lemli-Opitz syndrome;2023-11-21

5. MALDI-IM-MS Imaging of Brain Sterols and Lipids in a Mouse Model of Smith-Lemli-Opitz Syndrome;2023-10-02

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