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Results: 1 to 20 of 238

1.

PCR-based restriction fragment length polymorphism and haplotype of the most common mutation L176F in the beta-glucuronidase gene.

Islam MR, Shah GN, Sly WS.

Genet Test. 2007 Spring;11(1):72-4.

PMID:
17394395
[PubMed - indexed for MEDLINE]
2.

Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII.

Vervoort R, Islam MR, Sly WS, Zabot MT, Kleijer WJ, Chabas A, Fensom A, Young EP, Liebaers I, Lissens W.

Am J Hum Genet. 1996 Mar;58(3):457-71.

PMID:
8644704
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

An efficient strategy for detection of known and new mutations of the CYP2D6 gene using single strand conformation polymorphism analysis.

Broly F, Marez D, Sabbagh N, Legrand M, Millecamps S, Lo Guidice JM, Boone P, Meyer UA.

Pharmacogenetics. 1995 Dec;5(6):373-84.

PMID:
8747409
[PubMed - indexed for MEDLINE]
4.

Molecular analysis of the beta-glucuronidase gene: novel mutations in mucopolysaccharidosis type VII and heterogeneity of the polyadenylation region.

Vervoort R, Buist NR, Kleijer WJ, Wevers R, Fryns JP, Liebaers I, Lissens W.

Hum Genet. 1997 Apr;99(4):462-8.

PMID:
9099834
[PubMed - indexed for MEDLINE]
5.

A single-base-pair deletion in the beta-glucuronidase gene accounts for the phenotype of murine mucopolysaccharidosis type VII.

Sands MS, Birkenmeier EH.

Proc Natl Acad Sci U S A. 1993 Jul 15;90(14):6567-71.

PMID:
8101990
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

beta-Glucuronidase P408S, P415L mutations: evidence that both mutations combine to produce an MPS VII allele in certain Mexican patients.

Islam MR, Vervoort R, Lissens W, Hoo JJ, Valentino LA, Sly WS.

Hum Genet. 1996 Sep;98(3):281-4.

PMID:
8707294
[PubMed - indexed for MEDLINE]
7.

Four novel mutations in mucopolysaccharidosis type VII including a unique base substitution in exon 10 of the beta-glucuronidase gene that creates a novel 5'-splice site.

Yamada S, Tomatsu S, Sly WS, Islam R, Wenger DA, Fukuda S, Sukegawa K, Orii T.

Hum Mol Genet. 1995 Apr;4(4):651-5.

PMID:
7633414
[PubMed - indexed for MEDLINE]
8.

Overexpression rescues the mutant phenotype of L176F mutation causing beta-glucuronidase deficiency mucopolysaccharidosis in two Mennonite siblings.

Wu BM, Tomatsu S, Fukuda S, Sukegawa K, Orii T, Sly WS.

J Biol Chem. 1994 Sep 23;269(38):23681-8.

PMID:
8089138
[PubMed - indexed for MEDLINE]
Free Article
9.

The procedure of polymerase chain reaction-restriction fragment-single strand conformation polymorphism analysis by Hha I/Hinc II to detect mitochondrial DNA mutations.

Kurihara A, Tawata M, Ikegishi Y, Aida K, Onaya T.

Life Sci. 1999;64(14):1223-30.

PMID:
10210265
[PubMed - indexed for MEDLINE]
10.

Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome).

Tomatsu S, Montaño AM, Dung VC, Grubb JH, Sly WS.

Hum Mutat. 2009 Apr;30(4):511-9. doi: 10.1002/humu.20828. Review.

PMID:
19224584
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.

PMID:
19728970
[PubMed - indexed for MEDLINE]
12.

Beta-glucuronidase P408S, P415L allele in a Mexican population: population screening in Guadalajara and prenatal diagnosis.

Rafiqul Islam M, Gallegos Arreola MP, Wong P, Tomatsu S, Corona JS, Sly WS.

Prenat Diagn. 1998 Aug;18(8):822-5.

PMID:
9742570
[PubMed - indexed for MEDLINE]
13.

Detection of His1069Gln mutation in Wilson disease by bidirectional PCR amplification of specific alleles (BI-PASA) test.

Poláková H, Katrincsáková B, Minárik G, Feráková E, Ficek A, Baldovic M, Kádasi L.

Gen Physiol Biophys. 2007 Jun;26(2):91-6.

PMID:
17660582
[PubMed - indexed for MEDLINE]
14.

Rapid assignment of the swine major histocompatibility complex (SLA) class I and II genotypes in Clawn miniature swine using PCR-SSP and PCR-RFLP methods.

Ando A, Ota M, Sada M, Katsuyama Y, Goto R, Shigenari A, Kawata H, Anzai T, Iwanaga T, Miyoshi Y, Fujimura N, Inoko H.

Xenotransplantation. 2005 Mar;12(2):121-6.

PMID:
15693842
[PubMed - indexed for MEDLINE]
15.

A pseudodeficiency allele (D152N) of the human beta-glucuronidase gene.

Vervoort R, Islam MR, Sly W, Chabas A, Wevers R, de Jong J, Liebaers I, Lissens W.

Am J Hum Genet. 1995 Oct;57(4):798-804.

PMID:
7573038
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Familial gene analysis for Wilson disease from north-west Indian patients.

Kumar S, Thapa BR, Kaur G, Prasad R.

Ann Hum Biol. 2006 Mar-Apr;33(2):177-86.

PMID:
16684691
[PubMed - indexed for MEDLINE]
17.

Haplotype of multiple polymorphisms resolved by enzymatic amplification of single DNA molecules.

Ruano G, Kidd KK, Stephens JC.

Proc Natl Acad Sci U S A. 1990 Aug;87(16):6296-300.

PMID:
1974719
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Prenatal diagnosis of beta-thalassemic mutations in Chinese by multiple restriction fragment-single strand conformation polymorphism analysis.

Lee HH, Chang JG, Chen RT, Yang ML, Choo KB.

Proc Natl Sci Counc Repub China B. 1994 Jul;18(3):112-7.

PMID:
7972544
[PubMed - indexed for MEDLINE]
19.

[The detection of the frequent mutations of iduronate-2-sulphatase gene in mucopolysaccharidosis type II patients in Chinese].

Liu S, Li L, Fu J, Zhong C, Lu G.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2002 Jun;19(3):243-5. Chinese.

PMID:
12048688
[PubMed - indexed for MEDLINE]
20.

Low beta-glucuronidase enzyme activity and mutations in the human beta-glucuronidase gene in mild mucopolysaccharidosis type VII, pseudodeficiency and a heterozygote.

Vervoort R, Gitzelmann R, Bosshard N, Maire I, Liebaers I, Lissens W.

Hum Genet. 1998 Jan;102(1):69-78.

PMID:
9490302
[PubMed - indexed for MEDLINE]

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