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Items: 1 to 20 of 26

1.

Protein measurement with the Folin phenol reagent.

LOWRY OH, ROSEBROUGH NJ, FARR AL, RANDALL RJ.

J Biol Chem. 1951 Nov;193(1):265-75. No abstract available.

2.

A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES.

SMITH DW, LEMLI L, OPITZ JM.

J Pediatr. 1964 Feb;64:210-7. No abstract available.

PMID:
14119520
3.

A simple method for the isolation and purification of total lipides from animal tissues.

FOLCH J, LEES M, SLOANE STANLEY GH.

J Biol Chem. 1957 May;226(1):497-509. No abstract available.

4.

Molecular cloning and expression of the human delta7-sterol reductase.

Moebius FF, Fitzky BU, Lee JN, Paik YK, Glossmann H.

Proc Natl Acad Sci U S A. 1998 Feb 17;95(4):1899-902.

5.

The human metabotropic glutamate receptor 8 (GRM8) gene: a disproportionately large gene located at 7q31.3-q32.1.

Scherer SW, Soder S, Duvoisin RM, Huizenga JJ, Tsui LC.

Genomics. 1997 Sep 1;44(2):232-6.

PMID:
9299241
6.

Gapped BLAST and PSI-BLAST: a new generation of protein database search programs.

Altschul SF, Madden TL, Schäffer AA, Zhang J, Zhang Z, Miller W, Lipman DJ.

Nucleic Acids Res. 1997 Sep 1;25(17):3389-402. Review.

7.

Pathogenesis of malformations in a rodent model for Smith-Lemli-Opitz syndrome.

Dehart DB, Lanoue L, Tint GS, Sulik KK.

Am J Med Genet. 1997 Jan 31;68(3):328-37.

PMID:
9024568
8.

Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism.

Cunniff C, Kratz LE, Moser A, Natowicz MR, Kelley RI.

Am J Med Genet. 1997 Jan 31;68(3):263-9.

PMID:
9024557
9.

Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function.

Chiang C, Litingtung Y, Lee E, Young KE, Corden JL, Westphal H, Beachy PA.

Nature. 1996 Oct 3;383(6599):407-13.

PMID:
8837770
10.

Cholesterol modification of hedgehog signaling proteins in animal development.

Porter JA, Young KE, Beachy PA.

Science. 1996 Oct 11;274(5285):255-9. Erratum in: Science 1996 Dec 6;274(5293):1597.

PMID:
8824192
11.

Hedgehog patterning activity: role of a lipophilic modification mediated by the carboxy-terminal autoprocessing domain.

Porter JA, Ekker SC, Park WJ, von Kessler DP, Young KE, Chen CH, Ma Y, Woods AS, Cotter RJ, Koonin EV, Beachy PA.

Cell. 1996 Jul 12;86(1):21-34.

12.

Cloning by metabolic interference in yeast and enzymatic characterization of Arabidopsis thaliana sterol delta 7-reductase.

Lecain E, Chenivesse X, Spagnoli R, Pompon D.

J Biol Chem. 1996 May 3;271(18):10866-73.

13.

Unique lipids of primate spermatozoa: desmosterol and docosahexaenoic acid.

Lin DS, Connor WE, Wolf DP, Neuringer M, Hachey DL.

J Lipid Res. 1993 Mar;34(3):491-9.

14.

Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome.

Tint GS, Irons M, Elias ER, Batta AK, Frieden R, Chen TS, Salen G.

N Engl J Med. 1994 Jan 13;330(2):107-13.

15.

Abnormal bile acids in the Smith-Lemli-Opitz syndrome.

Natowicz MR, Evans JE.

Am J Med Genet. 1994 May 1;50(4):364-7.

PMID:
8209917
16.

Identification of a yeast artificial chromosome clone spanning a translocation breakpoint at 7q32.1 in a Smith-Lemli-Opitz syndrome patient.

Alley TL, Gray BA, Lee SH, Scherer SW, Tsui LC, Tint GS, Williams CA, Zori R, Wallace MR.

Am J Hum Genet. 1995 Jun;56(6):1411-6. Erratum in: Am J Hum Genet 1995 Aug;57(2):520-1.

17.

Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome.

Irons M, Elias ER, Salen G, Tint GS, Batta AK.

Lancet. 1993 May 29;341(8857):1414. No abstract available.

PMID:
7684480
19.

Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome.

Tint GS, Salen G, Batta AK, Shefer S, Irons M, Elias ER, Abuelo DN, Johnson VP, Lambert M, Lutz R, et al.

J Pediatr. 1995 Jul;127(1):82-7.

PMID:
7608816
20.

Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes.

Shefer S, Salen G, Batta AK, Honda A, Tint GS, Irons M, Elias ER, Chen TC, Holick MF.

J Clin Invest. 1995 Oct;96(4):1779-85.

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