These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

162 related articles for article (PubMed ID: 7762564)

  • 1. Identification of a yeast artificial chromosome clone spanning a translocation breakpoint at 7q32.1 in a Smith-Lemli-Opitz syndrome patient.
    Alley TL; Gray BA; Lee SH; Scherer SW; Tsui LC; Tint GS; Williams CA; Zori R; Wallace MR
    Am J Hum Genet; 1995 Jun; 56(6):1411-6. PubMed ID: 7762564
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Physical mapping of the chromosome 7 breakpoint region in an SLOS patient with t(7;20) (q32.1;q13.2).
    Alley TL; Scherer SW; Huizenga JJ; Tsui LC; Wallace MR
    Am J Med Genet; 1997 Jan; 68(3):279-81. PubMed ID: 9024559
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Smith-Lemli-Opitz syndrome in a female with a de novo, balanced translocation involving 7q32: probable disruption of an SLOS gene.
    Wallace M; Zori RT; Alley T; Whidden E; Gray BA; Williams CA
    Am J Med Genet; 1994 May; 50(4):368-74. PubMed ID: 8209918
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome.
    Wassif CA; Maslen C; Kachilele-Linjewile S; Lin D; Linck LM; Connor WE; Steiner RD; Porter FD
    Am J Hum Genet; 1998 Jul; 63(1):55-62. PubMed ID: 9634533
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts.
    Kelley RI
    Clin Chim Acta; 1995 Apr; 236(1):45-58. PubMed ID: 7664465
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Biochemical variants of Smith-Lemli-Opitz syndrome.
    Neklason DW; Andrews KM; Kelley RI; Metherall JE
    Am J Med Genet; 1999 Aug; 85(5):517-23. PubMed ID: 10405455
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype.
    Vervoort VS; Viljoen D; Smart R; Suthers G; DuPont BR; Abbott A; Schwartz CE
    J Med Genet; 2002 Dec; 39(12):893-9. PubMed ID: 12471201
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Diagnosis of Smith-Lemli-Opitz syndrome by ultraviolet spectrophotometry.
    Scalco FB; Cruzes VM; Vendramini RC; Brunetti IL; Moretti-Ferreira D
    Braz J Med Biol Res; 2003 Oct; 36(10):1327-32. PubMed ID: 14502364
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Elucidation of a cryptic interstitial 7q31.3 deletion in a patient with a language disorder and mild mental retardation by array-CGH.
    Tyson C; McGillivray B; Chijiwa C; Rajcan-Separovic E
    Am J Med Genet A; 2004 Sep; 129A(3):254-60. PubMed ID: 15326624
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Variant RSH/Smith-Lemli-Opitz syndrome with atypical sterol metabolism.
    Anderson AJ; Stephan MJ; Walker WO; Kelley RI
    Am J Med Genet; 1998 Aug; 78(5):413-8. PubMed ID: 9714006
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Identification of a yeast artificial chromosome spanning the 8q12 translocation breakpoint in pleomorphic adenomas with t(3;8)(p21;q12).
    Röijer E; Kas K; Klawitz I; Bullerdiek J; Van de Ven W; Stenman G
    Genes Chromosomes Cancer; 1996 Nov; 17(3):166-71. PubMed ID: 8946195
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Smith-Lemli-Opitz syndrome in trisomy 13: how does the mix work?
    Alkuraya FS; Picker J; Irons MB; Kimonis VE
    Birth Defects Res A Clin Mol Teratol; 2005 Aug; 73(8):569-71. PubMed ID: 15965973
    [TBL] [Abstract][Full Text] [Related]  

  • 13. YAC and cosmid FISH mapping of an unbalanced chromosomal translocation causing partial trisomy 21 and Down syndrome.
    Nadal M; Milà M; Pritchard M; Mur A; Pujals J; Blouin JL; Antonarakis SE; Ballesta F; Estivill X
    Hum Genet; 1996 Oct; 98(4):460-6. PubMed ID: 8792823
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Cholesterol supplementation with egg yolk increases plasma cholesterol and decreases plasma 7-dehydrocholesterol in Smith-Lemli-Opitz syndrome.
    Linck LM; Lin DS; Flavell D; Connor WE; Steiner RD
    Am J Med Genet; 2000 Aug; 93(5):360-5. PubMed ID: 10951458
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Mapping of the X-breakpoint involved in a balanced X;12 translocation in a female with mild mental retardation.
    Bienvenu T; Der-Sarkissian H; Billuart P; Tissot M; Des Portes V; Brüls T; Chabrolle JP; Chauveau P; Cherry M; Kahn A; Cohen D; Beldjord C; Chelly J; Cherif D
    Eur J Hum Genet; 1997; 5(2):105-9. PubMed ID: 9195162
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Biochemical and genetic aspects of 7-dehydrocholesterol reductase and Smith-Lemli-Opitz syndrome.
    Waterham HR; Wanders RJ
    Biochim Biophys Acta; 2000 Dec; 1529(1-3):340-56. PubMed ID: 11111101
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Aripiprazole and trazodone cause elevations of 7-dehydrocholesterol in the absence of Smith-Lemli-Opitz Syndrome.
    Hall P; Michels V; Gavrilov D; Matern D; Oglesbee D; Raymond K; Rinaldo P; Tortorelli S
    Mol Genet Metab; 2013; 110(1-2):176-8. PubMed ID: 23628460
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A balanced reciprocal translocation t(5;7)(q14;q32) associated with autistic disorder: molecular analysis of the chromosome 7 breakpoint.
    Tentler D; Brandberg G; Betancur C; Gillberg C; Annerén G; Orsmark C; Green ED; Carlsson B; Dahl N
    Am J Med Genet; 2001 Dec; 105(8):729-36. PubMed ID: 11803521
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Smith-Lemli-Opitz Syndrome in a newborn infant with developmental abnormalities and low endogenous cholesterol.
    Yang Y; Yassan L; Leung EKY; Yeo KJ
    Clin Chim Acta; 2018 Apr; 479():208-211. PubMed ID: 29355488
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Clinical and biochemical screening for Smith-Lemli-Opitz syndrome. Italian SLOS Collaborative Group.
    Guzzetta V; De Fabiani E; Galli G; Colombo C; Corso G; Lecora M; Parenti G; Strisciuglio P; Andria G
    Acta Paediatr; 1996 Aug; 85(8):937-42. PubMed ID: 8863875
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.