BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

183 related articles for article (PubMed ID: 10069708)

  • 1. Adrenal insufficiency in Smith-Lemli-Opitz syndrome.
    Andersson HC; Frentz J; Martínez JE; Tuck-Muller CM; Bellizaire J
    Am J Med Genet; 1999 Feb; 82(5):382-4. PubMed ID: 10069708
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Adrenal insufficiency and hypertension in a newborn infant with Smith-Lemli-Opitz syndrome.
    Nowaczyk MJ; Siu VM; Krakowiak PA; Porter FD
    Am J Med Genet; 2001 Oct; 103(3):223-5. PubMed ID: 11745994
    [TBL] [Abstract][Full Text] [Related]  

  • 3. [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]  

  • 4. Adrenal function in Smith-Lemli-Opitz syndrome.
    Bianconi SE; Conley SK; Keil MF; Sinaii N; Rother KI; Porter FD; Stratakis CA
    Am J Med Genet A; 2011 Nov; 155A(11):2732-8. PubMed ID: 21990131
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Adrenal insufficiency and abnormal genitalia in a 46XX female with Smith-Lemli-Opitz syndrome.
    Chemaitilly W; Goldenberg A; Baujat G; Thibaud E; Cormier-Daire V; Abadie V
    Horm Res; 2003; 59(5):254-6. PubMed ID: 12714790
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Treatment of Smith-Lemli-Opitz syndrome: results of a multicenter trial.
    Irons M; Elias ER; Abuelo D; Bull MJ; Greene CL; Johnson VP; Keppen L; Schanen C; Tint GS; Salen G
    Am J Med Genet; 1997 Jan; 68(3):311-4. PubMed ID: 9024565
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Low estriol levels in the maternal triple-marker screen as a predictor of isolated adrenocorticotropic hormone deficiency caused by a new mutation in the TPIT gene.
    Weintrob N; Drouin J; Vallette-Kasic S; Taub E; Marom D; Lebenthal Y; Klinger G; Bron-Harlev E; Shohat M
    Pediatrics; 2006 Feb; 117(2):e322-7. PubMed ID: 16390921
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Smith-Lemli-Opitz syndrome presenting as acute adrenal crisis in a child: a case report.
    Jayamanne C; Sandamal S; Jayasundara K; Saranavabavananthan M; Mettananda S
    J Med Case Rep; 2018 Aug; 12(1):217. PubMed ID: 30092813
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Smith-Lemli-Opitz syndrome: clinical and biochemical correlates.
    Donoghue SE; Pitt JJ; Boneh A; White SM
    J Pediatr Endocrinol Metab; 2018 Mar; 31(4):451-459. PubMed ID: 29455191
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. Cholesterol storage defect in RSH/Smith-Lemli-Opitz syndrome fibroblasts.
    Wassif CA; Vied D; Tsokos M; Connor WE; Steiner RD; Porter FD
    Mol Genet Metab; 2002 Apr; 75(4):325-34. PubMed ID: 12051964
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Behavioral phenotype of RSH/Smith-Lemli-Opitz syndrome.
    Tierney E; Nwokoro NA; Kelley RI
    Ment Retard Dev Disabil Res Rev; 2000; 6(2):131-4. PubMed ID: 10899806
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Residual cholesterol synthesis and simvastatin induction of cholesterol synthesis in Smith-Lemli-Opitz syndrome fibroblasts.
    Wassif CA; Krakowiak PA; Wright BS; Gewandter JS; Sterner AL; Javitt N; Yergey AL; Porter FD
    Mol Genet Metab; 2005 Jun; 85(2):96-107. PubMed ID: 15896653
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Smith-Lemli-Opitz syndrome and other sterol disorders among Finns with developmental disabilities.
    Nissinen MJ; Gylling H; Kaski M; Tammisto P; Mieskonen S; Ignatius J; Miettinen TA
    J Lab Clin Med; 2000 Dec; 136(6):457-67. PubMed ID: 11128747
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Mild Smith-Lemli-Opitz syndrome: further delineation of 5 Polish cases and review of the literature.
    Jezela-Stanek A; Ciara E; Malunowicz EM; Korniszewski L; Piekutowska-Abramczuk D; Popowska E; Krajewska-Walasek M
    Eur J Med Genet; 2008; 51(2):124-40. PubMed ID: 18249054
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Difficult prenatal diagnosis in mild Smith-Lemli-Opitz syndrome.
    Nowaczyk MJ; Heshka T; Kratz LE; Kelley RE
    Am J Med Genet; 2000 Dec; 95(4):396-8. PubMed ID: 11186897
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Cholesterol and development: the RSH ("Smith-Lemli-Opitz") syndrome and related conditions.
    Opitz JM; Gilbert-Barness E; Ackerman J; Lowichik A
    Pediatr Pathol Mol Med; 2002; 21(2):153-81. PubMed ID: 11942534
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Smith-Lemli-Opitz syndrome].
    Haghiri N; Menget A; Laitier V; Fromentin C; Nocton F; Kalach N
    Arch Pediatr; 1999 May; 6(5):536-9. PubMed ID: 10370810
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.