SCOPUS 정보 검색 플랫폼

American Journal of Medical Genetics

Volumn 102, Issue 4, 2001, Pages 387-388

Rapid molecular prenatal diagnosis of Smith-Lemli-Opitz syndrome [1]

(4) Nowaczyk, Magorzata J M a Garcia, Diana Martin b Eng, Barry c Waye, John S a

a MCMASTER UNIVERSITY (Canada)

b Medicine Program (Canada)

c Center of Medical Genetics and Primary Health Care (Armenia)

Author keywords

[No Author keywords available]

Indexed keywords

7 DEHYDROCHOLESTEROL; CHOLESTEROL; DNA;

AMNION CELL; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHOLESTEROL METABOLISM; CHORION VILLUS; FETUS; GENE MUTATION; HUMAN; HUMAN CELL; LETTER; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SMITH LEMLI OPITZ SYNDROME;

ADULT; FEMALE; FETAL DISEASES; HUMANS; PREGNANCY; PRENATAL DIAGNOSIS; SMITH-LEMLI-OPITZ SYNDROME;

EID: 0035451257 PISSN: 01487299 EISSN: None Source Type: Journal
DOI: 10.1002/ajmg.1503 Document Type: Letter

Times cited : (6)

References (14)

1
- 0031876967
- Variant RSH/Smith-Lemli-Opitz syndrome with atypical sterol metabolism
- (1998) Am J Med Genet , vol.78 , pp. 413-418
- Anderson, A.¹ Stephan, M.² Walker, W.³ Kelley, R.⁴

2
- 0034613991
- Prenatal diagnosis of Smith-Lemli-Opitz syndrome by mutation analysis
- (2000) Am J Med Genet , vol.95 , pp. 85
- Bzdúch, V.¹ Kozák, L.² Fráncová, H.³ Behúlová, D.⁴

3
- 0032493196
- 7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome
- (1998) Proc Natl Acad Sci USA , vol.95 , pp. 8181-8186
- Fitzky, B.U.¹ Witsch-Baumgartner, M.² Erdel, M.³ Lee, J.N.⁴ Paik, Y.K.⁵ Glossmann, H.⁶ Utermann, G.⁷ Moebius, F.F.⁸

4
- 0031781901
- Accurate detection of Smith-Lemli-Opitz syndrome carriers by measurement of the rate of reduction of the ergosterol C-7 double bond in cultured skin fibroblasts
- (1998) J Inherit Metab Dis , vol.21 , pp. 761-768
- Honda, M.¹ Tint, G.S.² Shefer, S.³ Honda, A.⁴ Batta, A.K.⁵ Xu, G.⁶ Chen, T.S.⁷ Salen, G.⁸

5
- 0029022844
- Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts
- (1995) Clin Chim Acta , vol.236 , pp. 45-58
- Kelley, R.I.¹

6
- 0033582547
- Prenatal diagnosis of the RSH/Smith-Lemli-Opitz syndrome
- (1999) Am J Med Genet , vol.82 , pp. 376-381
- Kratz, L.E.¹ Kelley, R.I.²

7
- 0033609943
- Biochemical variants of Smith-Lemli-Opitz syndrome
- (1999) Am J Med Genet , vol.85 , pp. 517-523
- Neklason, D.W.¹ Andrews, K.M.² Kelley, R.I.³ Metherall, J.E.⁴

8
- 0031830407
- Phenotypic extreme in Smith-Lemli-Opitz Syndrome
- (1998) Am J Med Genet , vol.78 , pp. 419-423
- Nowaczyk, M.J.M.¹ Whelan, D.T.² Hill, R.E.³

9
- 0034639292
- Difficult prenatal diagnosis in mild Smith-Lemli-Opitz syndrome
- (2000) Am J Med Genet , vol.95 , pp. 396-398
- Nowaczyk, M.J.M.¹ Heshka, T.W.² Kratz, L.E.³ Kelley, R.I.⁴

10
- 0035885194
- Smith-Lemli-Opitz syndrome: Holoprosencephaly and homozygous IVS8-1G→C genotype
- in press
- (2001) Am J Med Genet
- Nowaczyk, M.J.M.¹ Farrell, S.A.² Sirki, W.L.³ Velsher, L.⁴ Krakowiak, P.A.⁵ Waye, J.S.⁶ Porter, F.D.⁷

11
- 0032840521
- RSH (so-called Smith-Lemli-Opitz) syndrome
- (1999) Curr Opin Pediatr , vol.11 , pp. 353-362
- Opitz, J.M.¹

12
- 0000139419
- A newly recognized syndrome of multiple congenital anomalies
- (1964) J Pediatr , vol.64 , pp. 210-217
- Smith, D.W.¹ Lemli, L.² Opitz, J.A.³

13
- 0032231459
- 7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome
- (1998) Am J Hum Genet , vol.63 , pp. 55-62
- Wassif, C.A.¹ Maslen, C.² Kachilele-Linjewile, S.³ Lin, D.⁴ Linck, L.M.⁵ Connor, W.E.⁶ Steiner, R.D.⁷ Porter, F.D.⁸

14
- 0032231706
- Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene
- (1998) Am J Hum Genet , vol.63 , pp. 329-338
- Waterham, H.R.¹ Wijburg, F.A.² Hennekam, R.C.M.³ Vreken, P.⁴ Poll-The, B.T.⁵ Dorland, L.⁶ Duran, M.⁷ Jira, P.E.⁸ Smeitink, J.A.M.⁹ Wevers, R.A.¹⁰ Wanders, R.J.A.¹¹

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.