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 *

199 related articles for article (PubMed ID: 19452638)

  • 1. Smith-Lemli-Opitz syndrome and inborn errors of cholesterol synthesis: summary of the 2007 SLO/RSH Foundation scientific conference sponsored by the National Institutes of Health.
    Merkens LS; Wassif C; Healy K; Pappu AS; DeBarber AE; Penfield JA; Lindsay RA; Roullet JB; Porter FD; Steiner RD
    Genet Med; 2009 May; 11(5):359-64. PubMed ID: 19452638
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Cholesterol metabolism in the RSH/Smith-Lemli-Opitz syndrome: summary of an NICHD conference.
    Opitz JM; de la Cruz F
    Am J Med Genet; 1994 May; 50(4):326-38. PubMed ID: 7632194
    [TBL] [Abstract][Full Text] [Related]  

  • 3. RSH/Smith-Lemli-Opitz syndrome: a multiple congenital anomaly/mental retardation syndrome due to an inborn error of cholesterol biosynthesis.
    Porter FD
    Mol Genet Metab; 2000; 71(1-2):163-74. PubMed ID: 11001807
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [Historical aspects of the Smith-Lemli-Opitz syndrome].
    Bzdúch V; Behúlová D; Skodová J; Skokňová M; Kozák L
    Cas Lek Cesk; 2014; 153(1):36-9. PubMed ID: 24506692
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism.
    Cunniff C; Kratz LE; Moser A; Natowicz MR; Kelley RI
    Am J Med Genet; 1997 Jan; 68(3):263-9. PubMed ID: 9024557
    [TBL] [Abstract][Full Text] [Related]  

  • 6. School in photodermatology: Smith-Lemli-Opitz syndrome.
    Anstey A
    Photodermatol Photoimmunol Photomed; 2006 Aug; 22(4):200-4. PubMed ID: 16869869
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Smith-Lemli-Opitz syndrome: a treatable inherited error of metabolism causing mental retardation.
    Nowaczyk MJ; Whelan DT; Heshka TW; Hill RE
    CMAJ; 1999 Jul; 161(2):165-70. PubMed ID: 10439827
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [Inborn error of cholesterol biosynthesis: Smith-Lemli-Opitz syndrome].
    Koczok K; V Oláh A; P Szabó G; Oláh É; Török O; Balogh I
    Orv Hetil; 2015 Oct; 156(42):1695-702. PubMed ID: 26551309
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Sterol profiles in plasma and erythrocyte membranes in patients with Smith-Lemli-Opitz syndrome: a six-year experience.
    Corso G; Gelzo M; Barone R; Clericuzio S; Pianese P; Nappi A; Dello Russo A
    Clin Chem Lab Med; 2011 Aug; 49(12):2039-46. PubMed ID: 21864209
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome.
    Witsch-Baumgartner M; Gruber M; Kraft HG; Rossi M; Clayton P; Giros M; Haas D; Kelley RI; Krajewska-Walasek M; Utermann G
    J Med Genet; 2004 Aug; 41(8):577-84. PubMed ID: 15286151
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Recent insights into the Smith-Lemli-Opitz syndrome.
    Yu H; Patel SB
    Clin Genet; 2005 Nov; 68(5):383-91. PubMed ID: 16207203
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Prenatal diagnosis of Smith-Lemli-Opitz syndrome.
    Irons MB; Tint GS
    Prenat Diagn; 1998 Apr; 18(4):369-72. PubMed ID: 9602484
    [No Abstract]   [Full Text] [Related]  

  • 14. The RSH/"Smith-Lemli-Opitz" syndrome: historical footnote.
    Opitz JM; Furtado LV
    Am J Med Genet C Semin Med Genet; 2012 Nov; 160C(4):242-9. PubMed ID: 23059855
    [TBL] [Abstract][Full Text] [Related]  

  • 15. RSH/SLO ("Smith-Lemli-Opitz") syndrome: historical, genetic, and developmental considerations.
    Opitz JM
    Am J Med Genet; 1994 May; 50(4):344-6. PubMed ID: 8209912
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Biochemical diagnosis of Smith-Lemli-Opitz syndrome in a patient with congenital adrenal hyperplasia].
    GarcíaFuentes E; icioso Recio MV ; del Castillo Acedo Del Olmo E ; atas Jurado MM ; Arana Agüera M ; López López J
    An Esp Pediatr; 2000 Nov; 53(5):482-7. PubMed ID: 11141372
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Beneficial effects of dietary supplementation in a disorder with defective synthesis of cholesterol. A case report of a girl with Smith-Lemli-Opitz syndrome, polyneuropathy and precocious puberty.
    Starck L; Björkhem I; Ritzén EM; Nilsson BY; von Döbeln U
    Acta Paediatr; 1999 Jul; 88(7):729-33. PubMed ID: 10447131
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Pulmonary vein stenosis in patients with Smith-Lemli-Opitz syndrome.
    Prosnitz AR; Leopold J; Irons M; Jenkins K; Roberts AE
    Congenit Heart Dis; 2017 Jul; 12(4):475-483. PubMed ID: 28719049
    [TBL] [Abstract][Full Text] [Related]  

  • 19. The Smith-Lemli-Opitz syndrome.
    Kelley RI; Hennekam RC
    J Med Genet; 2000 May; 37(5):321-35. PubMed ID: 10807690
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 10.