106 related articles for article (PubMed ID: 23595802)
1. Abnormal motor behavior at 23 weeks in a fetus with Smith-Lemli-Opitz syndrome (SLOS).
Hagen MA; Stuurman KE; de Vries JI
Prenat Diagn; 2013 Aug; 33(8):807-9. PubMed ID: 23595802
[No Abstract] [Full Text] [Related]
2. Smith-Lemli-Opitz Syndrome- a challenging prenatal diagnosis.
Szpera-Goździewicz A; Ropacka-Lesiak M; Rzymski P; Bręborowicz GH
Ginekol Pol; 2016; 87(1):76-8. PubMed ID: 27306473
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. Mutational spectrum of Smith-Lemli-Opitz syndrome.
Waterham HR; Hennekam RC
Am J Med Genet C Semin Med Genet; 2012 Nov; 160C(4):263-84. PubMed ID: 23042628
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Spontaneously regressing brain lesions in Smith-Lemli-Opitz syndrome.
Dang Do AN; Baker EH; Warren KE; Bianconi SE; Porter FD
Am J Med Genet A; 2018 Feb; 176(2):386-390. PubMed ID: 29226552
[TBL] [Abstract][Full Text] [Related]
8. [Prenatal diagnosis of Smith-Lemli-Opitz syndrome--case report].
Lauda-Swieciak A; Przybył B; Moszczyńska K; Skórczewski J; Lach J; Szułczyński J; Ludwikowski G; Dubiel M
Ginekol Pol; 2009 Oct; 80(10):778-81. PubMed ID: 19943544
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. Major fetal abnormalities associated with positive screening tests for Smith-Lemli-Opitz syndrome (SLOS).
Craig WY; Haddow JE; Palomaki GE; Roberson M
Prenat Diagn; 2007 May; 27(5):409-14. PubMed ID: 17286308
[TBL] [Abstract][Full Text] [Related]
12. Cognitive and behavioral aspects of Smith-Lemli-Opitz syndrome.
Diaz-Stransky A; Tierney E
Am J Med Genet C Semin Med Genet; 2012 Nov; 160C(4):295-300. PubMed ID: 23042585
[TBL] [Abstract][Full Text] [Related]
13. [Utility of fetal ultrasonography in the prenatal diagnosis of Smith-Lemli-Opitz syndrome].
Dubuisson J; Guibaud L; Combourieu D; Massardier J; Raudrant D
Gynecol Obstet Fertil; 2008 May; 36(5):525-8. PubMed ID: 18462978
[TBL] [Abstract][Full Text] [Related]
14. Identifying Smith-Lemli-Opitz syndrome in conjunction with prenatal screening for Down syndrome.
Craig WY; Haddow JE; Palomaki GE; Kelley RI; Kratz LE; Shackleton CH; Marcos J; Stephen Tint G; MacRae AR; Nowaczyk MJ; Kloza EM; Irons MB; Roberson M
Prenat Diagn; 2006 Sep; 26(9):842-9. PubMed ID: 16832833
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Prenatal diagnosis of the RSH/Smith-Lemli-Opitz syndrome.
Kratz LE; Kelley RI
Am J Med Genet; 1999 Feb; 82(5):376-81. PubMed ID: 10069707
[TBL] [Abstract][Full Text] [Related]
17. Edematous polydactyly in Smith-Lemli-Opitz syndrome Type II.
Chitty L; Gardener G; Overton T
Ultrasound Obstet Gynecol; 2004 Jun; 23(6):629-30. PubMed ID: 15170811
[No Abstract] [Full Text] [Related]
18. Case report of unilateral clefting: is sonic hedgehog to blame?
Delaney M; Boyd TK
Pediatr Dev Pathol; 2007; 10(2):117-20. PubMed ID: 17378681
[TBL] [Abstract][Full Text] [Related]
19. Increased first trimester nuchal translucency as a prenatal manifestation of Smith-Lemli-Opitz syndrome.
Hyett JA; Clayton PT; Moscoso G; Nicolaides KH
Am J Med Genet; 1995 Sep; 58(4):374-6. PubMed ID: 8533850
[TBL] [Abstract][Full Text] [Related]
20. 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; 153(4):774-9. PubMed ID: 16181459
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
