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Journal Abstract Search

495 related items for PubMed ID: 17441222

  • 21. Identification of a novel DHCR7 mutation in a Korean patient with Smith-Lemli-Opitz syndrome.
    Jong Hee Chae, Ki Joong Kim, Yong Seung Hwang, Ki CS, Kim JW.
    J Child Neurol; 2007 Nov; 22(11):1297-300. PubMed ID: 18006960
    [Abstract] [Full Text] [Related]

  • 22. Mutational spectrum of Smith-Lemli-Opitz syndrome.
    Waterham HR, Hennekam RC.
    Am J Med Genet C Semin Med Genet; 2012 Nov 15; 160C(4):263-84. PubMed ID: 23042628
    [Abstract] [Full Text] [Related]

  • 23. Molecular studies in Portuguese patients with Smith-Lemli-Opitz syndrome and report of three new mutations in DHCR7.
    Cardoso ML, Balreira A, Martins E, Nunes L, Cabral A, Marques M, Lima MR, Marques JS, Medeira A, Cordeiro I, Pedro S, Mota MC, Dionisi-Vici C, Santorelli FM, Jakobs C, Clayton PT, Vilarinho L.
    Mol Genet Metab; 2005 Jul 15; 85(3):228-35. PubMed ID: 15979035
    [Abstract] [Full Text] [Related]

  • 24. Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy.
    Witsch-Baumgartner M, Clayton P, Clusellas N, Haas D, Kelley RI, Krajewska-Walasek M, Lechner S, Rossi M, Zschocke J, Utermann G.
    Hum Mutat; 2005 Apr 15; 25(4):412. PubMed ID: 15776424
    [Abstract] [Full Text] [Related]

  • 25. Recent insights into the Smith-Lemli-Opitz syndrome.
    Yu H, Patel SB.
    Clin Genet; 2005 Nov 15; 68(5):383-91. PubMed ID: 16207203
    [Abstract] [Full Text] [Related]

  • 26. Mutations in the human DHCR7 gene.
    Witsch-Baumgartner M, Löffler J, Utermann G.
    Hum Mutat; 2001 Mar 15; 17(3):172-82. PubMed ID: 11241839
    [Abstract] [Full Text] [Related]

  • 27. Photosensitive Smith-Lemli-Opitz syndrome is not caused by a single gene mutation: analysis of the gene encoding 7-dehydrocholesterol reductase in five U.K. families.
    Anstey AV, Azurdia RM, Rhodes LE, Pearse AD, Bowden PE.
    Br J Dermatol; 2005 Oct 15; 153(4):774-9. PubMed ID: 16181459
    [Abstract] [Full Text] [Related]

  • 28. Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology.
    Nowaczyk MJ, Irons MB.
    Am J Med Genet C Semin Med Genet; 2012 Nov 15; 160C(4):250-62. PubMed ID: 23059950
    [Abstract] [Full Text] [Related]

  • 29. 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 Nov 15; 71(1-2):163-74. PubMed ID: 11001807
    [Abstract] [Full Text] [Related]

  • 30. Smith-Lemli-Opitz syndrome among Arabs.
    Al-Owain M, Imtiaz F, Shuaib T, Edrees A, Al-Amoudi M, Sakati N, Al-Hassnan Z, Bamashmous H, Rahbeeni Z, Al-Ameer S, Faqeih E, Meyer B, Al-Hashem A, Garout W, Al-Odaib A, Rashed M, Al-Aama JY.
    Clin Genet; 2012 Aug 15; 82(2):165-72. PubMed ID: 21696385
    [Abstract] [Full Text] [Related]

  • 31. Pregnancy and life after preimplantation genetic diagnosis of Smith-Lemli-Opitz syndrome.
    Liss J, Lukaszuk K, Bruszczyńska A, Szczerkowska Z, Rebala K.
    Fertil Steril; 2008 Nov 15; 90(5):2011.e13-6. PubMed ID: 18442819
    [Abstract] [Full Text] [Related]

  • 32. DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome.
    Correa-Cerro LS, Wassif CA, Waye JS, Krakowiak PA, Cozma D, Dobson NR, Levin SW, Anadiotis G, Steiner RD, Krajewska-Walasek M, Nowaczyk MJ, Porter FD.
    J Med Genet; 2005 Apr 15; 42(4):350-7. PubMed ID: 15805162
    [No Abstract] [Full Text] [Related]

  • 33. Carrier frequency of the common mutation IVS8-1G>C in DHCR7 and estimate of the expected incidence of Smith-Lemli-Opitz syndrome.
    Battaile KP, Battaile BC, Merkens LS, Maslen CL, Steiner RD.
    Mol Genet Metab; 2001 Jan 15; 72(1):67-71. PubMed ID: 11161831
    [Abstract] [Full Text] [Related]

  • 34. The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome.
    Tucci A, Ronzoni L, Arduino C, Salmin P, Esposito S, Milani D.
    BMC Med Genet; 2016 Mar 11; 17():22. PubMed ID: 26969503
    [Abstract] [Full Text] [Related]

  • 35. DHCR7 and Smith-Lemli-Opitz syndrome.
    Nowaczyk MJ, Nakamura LM, Waye JS.
    Clin Invest Med; 2001 Dec 11; 24(6):311-7. PubMed ID: 11767235
    [No Abstract] [Full Text] [Related]

  • 36. Smith-Lemli-Opitz syndrome: prenatal diagnosis by quantification of cholesterol precursors in amniotic fluid.
    Rossiter JP, Hofman KJ, Kelley RI.
    Am J Med Genet; 1995 Apr 10; 56(3):272-5. PubMed ID: 7778588
    [Abstract] [Full Text] [Related]

  • 37. Discordant phenotype and sterol biochemistry in Smith-Lemli-Opitz syndrome.
    Koo G, Conley SK, Wassif CA, Porter FD.
    Am J Med Genet A; 2010 Aug 10; 152A(8):2094-8. PubMed ID: 20635399
    [Abstract] [Full Text] [Related]

  • 38. Novel mutation in the Delta-sterol reductase gene in three Lebanese sibs with Smith-Lemli-Opitz (RSH) syndrome.
    Nezarati MM, Loeffler J, Yoon G, MacLaren L, Fung E, Snyder F, Utermann G, Graham GE.
    Am J Med Genet; 2002 Jun 15; 110(2):103-8. PubMed ID: 12116246
    [Abstract] [Full Text] [Related]

  • 39. 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 Jun 15; 110(1-2):176-8. PubMed ID: 23628460
    [Abstract] [Full Text] [Related]

  • 40. Recognition of Smith-Lemli-Opitz syndrome (RSH) in the fetus: utility of ultrasonography and biochemical analysis in pregnancies with low maternal serum estriol.
    Shinawi M, Szabo S, Popek E, Wassif CA, Porter FD, Potocki L.
    Am J Med Genet A; 2005 Sep 15; 138(1):56-60. PubMed ID: 16097001
    [Abstract] [Full Text] [Related]

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