579 related articles for article (PubMed ID: 15965973)
1. 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]
2. 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]
3. Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS).
Waye JS; Krakowiak PA; Wassif CA; Sterner AL; Eng B; Nakamura LM; Nowaczyk MJ; Porter FD
Hum Mutat; 2005 Jul; 26(1):59. PubMed ID: 15954111
[TBL] [Abstract][Full Text] [Related]
4. 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
[TBL] [Abstract][Full Text] [Related]
5. 3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome.
Correa-Cerro LS; Porter FD
Mol Genet Metab; 2005 Feb; 84(2):112-26. PubMed ID: 15670717
[TBL] [Abstract][Full Text] [Related]
6. Prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS) by DHCR7 mutation analysis.
Waye JS; Eng B; Nowaczyk MJ
Prenat Diagn; 2007 Jul; 27(7):638-40. PubMed ID: 17441222
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Lowered DHCR7 activity measured by ergosterol conversion in multiple cell types in Smith-Lemli-Opitz syndrome.
Ginat S; Battaile KP; Battaile BC; Maslen C; Gibson KM; Steiner RD
Mol Genet Metab; 2004; 83(1-2):175-83. PubMed ID: 15464432
[TBL] [Abstract][Full Text] [Related]
9. Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations.
Witsch-Baumgartner M; Schwentner I; Gruber M; Benlian P; Bertranpetit J; Bieth E; Chevy F; Clusellas N; Estivill X; Gasparini G; Giros M; Kelley RI; Krajewska-Walasek M; Menzel J; Miettinen T; Ogorelkova M; Rossi M; Scala I; Schinzel A; Schmidt K; Schönitzer D; Seemanova E; Sperling K; Syrrou M; Talmud PJ; Wollnik B; Krawczak M; Labuda D; Utermann G
J Med Genet; 2008 Apr; 45(4):200-9. PubMed ID: 17965227
[TBL] [Abstract][Full Text] [Related]
10. Smith-Lemli-Opitz syndrome: the first malformation syndrome associated with defective cholesterol synthesis.
Battaile KP; Steiner RD
Mol Genet Metab; 2000; 71(1-2):154-62. PubMed ID: 11001806
[TBL] [Abstract][Full Text] [Related]
11. Molecular prenatal diagnosis of Smith-Lemli-Opitz syndrome is reliable and efficient.
Loeffler J; Utermann G; Witsch-Baumgartner M
Prenat Diagn; 2002 Sep; 22(9):827-30. PubMed ID: 12224080
[TBL] [Abstract][Full Text] [Related]
12. 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; 82(2):165-72. PubMed ID: 21696385
[TBL] [Abstract][Full Text] [Related]
13. Unbalanced translocation (3;5)(q26.1;p14): a clinical report.
Rossi M; Di Micco P; Perone L; De Brasi D; Guzzetta V; Andreucci MV; Vega GR; Marzano MG; Iaccarino E; Andria G
Am J Med Genet; 2002 Jul; 110(4):353-8. PubMed ID: 12116209
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome.
Ciara E; Nowaczyk MJ; Witsch-Baumgartner M; Malunowicz E; Popowska E; Jezela-Stanek A; Piotrowicz M; Waye JS; Utermann G; Krajewska-Walasek M
Clin Genet; 2004 Dec; 66(6):517-24. PubMed ID: 15521979
[TBL] [Abstract][Full Text] [Related]
16. 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; 25(4):412. PubMed ID: 15776424
[TBL] [Abstract][Full Text] [Related]
17. Spectrum of DHCR7 mutations in Slovak patients with Smith-Lemli-Opitz syndrome and detection of common mutations by PCR-based assays.
Kolejáková K; Petrovic R; Futas J; Turcáni P; Durovcíková D; Chandoga J
Gen Physiol Biophys; 2009 Mar; 28(1):8-15. PubMed ID: 19390132
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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; 72(1):67-71. PubMed ID: 11161831
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
