| 1 | Detection of a common mutation in the RSH or Smith-Lemli-Opitz syndrome by a PCR-RFLP assay: IVS8-G-->C is found in over sixty percent of US propositi. (Yu H, Tint GS, Salen G, Patel SB) Am J Med Genet 2000 Feb 14;90(4):347-50 50 Citations |
| 1 | Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome. (Yu H, Lee MH, Starck L, Elias ER, Irons M, Salen G, Patel SB, Tint GS) Hum Mol Genet 2000 May 22;9(9):1385-91 96 Citations |
| 1 | Spectrum of Δ7-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome (Human Molecular Genetics (2000) vol.9 (1385-1391)) (Yu H, Lee MH, Starch L, Elias ER, Irons M, Salen G, Patel SB, Tint GS) Human Molecular Genetics 2000;9(12):1903 |
| 1 | 7-Dehydrocholesterol-dependent proteolysis of HMG-CoA reductase suppresses sterol biosynthesis in a mouse model of Smith-Lemli-Opitz/RSH syndrome. (Fitzky BU, Moebius FF, Asaoka H, Waage-Baudet H, Xu L, Xu G, Maeda N, Kluckman K, Hiller S, Yu H, Batta AK, Shefer S, Chen T, Salen G, Sulik K, Simoni RD, Ness GC, Glossmann H, Patel SB, Tint GS) J Clin Invest 2001 Sep;108(6):905-15 148 Citations |
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| 1 | Late gestational lung hypoplasia in a mouse model of the Smith-Lemli-Opitz syndrome. (Yu H, Wessels A, Chen J, Phelps AL, Oatis J, Tint GS, Patel SB) BMC Dev Biol 2004 Feb 02;4:1 28 Citations |
| 1 | Recent insights into the Smith-Lemli-Opitz syndrome. (Yu H, Patel SB) Clin Genet 2005 Nov;68(5):383-91 77 Citations |
| 1 | Erratum: Recent insights into the Smith-Lemli-Opitz syndrome (Clinical Genetics (2005) vol. 68 (383-391)) (Yu H, Patel SB) Clinical Genetics December 2005;68(6):570 |
| 1 | Light-induced exacerbation of retinal degeneration in a rat model of Smith-Lemli-Opitz syndrome. (Vaughan DK, Peachey NS, Richards MJ, Buchan B, Fliesler SJ) Exp Eye Res 2006 Mar;82(3):496-504 37 Citations |
| 1 | Loss of apolipoprotein E exacerbates the neonatal lethality of the Smith-Lemli-Opitz syndrome mouse. (Solcà C, Pandit B, Yu H, Tint GS, Patel SB) Mol Genet Metab 2007 May;91(1):7-14 11 Citations |
| 1 | Suture removal in the mid-21st century: It is a spring morning in July 2047. Dr. Aiden Smith, a surgeon, enters the clinic room (Campbell B) Surgical Products 2014(JAN/FEB 2014):38 |
| 1 | Compensatory Conscientiousness Redux: A Direct Replication of Roberts, Smith, Jackson, and Edmonds (2009). (Nickel LB, Iveniuk J, Roberts BW) Soc Psychol Personal Sci 2017 Jan;8(1):29-35 7 Citations |
| 1 | A Rare De Novo RAI1 Gene Mutation Affecting BDNF-Enhancer-Driven Transcription Activity Associated with Autism and Atypical Smith-Magenis Syndrome Presentation. (Abad C, Cook MM, Cao L, Jones JR, Rao NR, Dukes-Rimsky L, Pauly R, Skinner C, Wang Y, Luo F, Stevenson RE, Walz K, Srivastava AK) Biology (Basel) 2018 May 24;7(2) 16 Citations |
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