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Results: 1 to 20 of 33

References for PMC Articles for PubMed (Select 11590543)

2.
3.

Dorfman-Chanarin syndrome in a Turkish kindred: conductor diagnosis requires analysis of multiple eosinophils.

Wollenberg A, Geiger E, Schaller M, Wolff H.

Acta Derm Venereol. 2000 Jan-Feb;80(1):39-43. Review.

PMID:
10721832
4.

Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity.

Fischer J, Faure A, Bouadjar B, Blanchet-Bardon C, Karaduman A, Thomas I, Emre S, Cure S, Ozgüc M, Weissenbach J, Prud'homme JF.

Am J Hum Genet. 2000 Mar;66(3):904-13.

5.

Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome.

König A, Happle R, Bornholdt D, Engel H, Grzeschik KH.

Am J Med Genet. 2000 Feb 14;90(4):339-46. Review.

PMID:
10710235
6.

CHILD syndrome caused by deficiency of 3beta-hydroxysteroid-delta8, delta7-isomerase.

Grange DK, Kratz LE, Braverman NE, Kelley RI.

Am J Med Genet. 2000 Feb 14;90(4):328-35.

PMID:
10710233
7.

Alpha/beta hydrolase fold enzymes: the family keeps growing.

Nardini M, Dijkstra BW.

Curr Opin Struct Biol. 1999 Dec;9(6):732-7. Review.

PMID:
10607665
8.

Mobilisation of triacylglycerol stores.

Gibbons GF, Islam K, Pease RJ.

Biochim Biophys Acta. 2000 Jan 3;1483(1):37-57. Review.

PMID:
10601694
9.

Of barn owls and bankers: a lush variety of alpha/beta hydrolases.

Heikinheimo P, Goldman A, Jeffries C, Ollis DL.

Structure. 1999 Jun 15;7(6):R141-6. Review.

PMID:
10404588
10.

Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome.

Braverman N, Lin P, Moebius FF, Obie C, Moser A, Glossmann H, Wilcox WR, Rimoin DL, Smith M, Kratz L, Kelley RI, Valle D.

Nat Genet. 1999 Jul;22(3):291-4.

PMID:
10391219
11.
12.

[Dorfman-Chanarin syndrome].

Kaassis C, Ginies JL, Berthelot J, Verret JL.

Ann Dermatol Venereol. 1998 May;125(5):317-9. French.

PMID:
9747278
14.

Lipases and alpha/beta hydrolase fold.

Schrag JD, Cygler M.

Methods Enzymol. 1997;284:85-107. Review. No abstract available.

PMID:
9379946
15.

Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene.

Jansen GA, Ofman R, Ferdinandusse S, Ijlst L, Muijsers AO, Skjeldal OH, Stokke O, Jakobs C, Besley GT, Wraith JE, Wanders RJ.

Nat Genet. 1997 Oct;17(2):190-3.

PMID:
9326940
16.

Interpreting cDNA sequences: some insights from studies on translation.

Kozak M.

Mamm Genome. 1996 Aug;7(8):563-74. Review.

PMID:
8679005
18.

Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene.

De Laurenzi V, Rogers GR, Hamrock DJ, Marekov LN, Steinert PM, Compton JG, Markova N, Rizzo WB.

Nat Genet. 1996 Jan;12(1):52-7.

PMID:
8528251
19.

Relationship between sequence conservation and three-dimensional structure in a large family of esterases, lipases, and related proteins.

Cygler M, Schrag JD, Sussman JL, Harel M, Silman I, Gentry MK, Doctor BP.

Protein Sci. 1993 Mar;2(3):366-82. Review.

20.

Familial Mediterranean fever (FMF) in Moroccan Jews: demonstration of a founder effect by extended haplotype analysis.

Aksentijevich I, Pras E, Gruberg L, Shen Y, Holman K, Helling S, Prosen L, Sutherland GR, Richards RI, Dean M, et al.

Am J Hum Genet. 1993 Sep;53(3):644-51.

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