Whitley CB - Search Results

1

A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with maternally inherited cardiomyopathy.

Silvestri G, Santorelli FM, Shanske S, Whitley CB, Schimmenti LA, Smith SA, DiMauro S. Silvestri G, et al. Among authors: whitley cb. Hum Mutat. 1994;3(1):37-43. doi: 10.1002/humu.1380030107. Hum Mutat. 1994. PMID: 7906985

2

Caveat to genotype-phenotype correlation in mucopolysaccharidosis type II: discordant clinical severity of R468W and R468Q mutations of the iduronate-2-sulfatase gene.

Whitley CB, Anderson RA, Aronovich EL, Crotty PL, Anyane-Yeboa K, Russo D, Warburton D. Whitley CB, et al. Hum Mutat. 1993;2(3):235-7. doi: 10.1002/humu.1380020313. Hum Mutat. 1993. PMID: 8364592 No abstract available.

3

Assessment of iduronate-2-sulfatase mRNA expression in Hunter syndrome (mucopolysaccharidosis type II).

Crotty PL, Whitley CB. Crotty PL, et al. Among authors: whitley cb. Hum Genet. 1992 Nov;90(3):285-8. doi: 10.1007/BF00220080. Hum Genet. 1992. PMID: 1283150

4

Mutation R468W of the iduronate-2-sulfatase gene in mild Hunter syndrome (mucopolysaccharidosis type II) confirmed by in vitro mutagenesis and expression.

Crotty PL, Braun SE, Anderson RA, Whitley CB. Crotty PL, et al. Among authors: whitley cb. Hum Mol Genet. 1992 Dec;1(9):755-7. doi: 10.1093/hmg/1.9.755. Hum Mol Genet. 1992. PMID: 1284597 No abstract available.

5

Metabolic correction and cross-correction of mucopolysaccharidosis type II (Hunter syndrome) by retroviral-mediated gene transfer and expression of human iduronate-2-sulfatase.

Braun SE, Aronovich EL, Anderson RA, Crotty PL, McIvor RS, Whitley CB. Braun SE, et al. Among authors: whitley cb. Proc Natl Acad Sci U S A. 1993 Dec 15;90(24):11830-4. doi: 10.1073/pnas.90.24.11830. Proc Natl Acad Sci U S A. 1993. PMID: 8265633 Free PMC article.

6

Molecular genetic defect underlying alpha-L-iduronidase pseudodeficiency.

Aronovich EL, Pan D, Whitley CB. Aronovich EL, et al. Among authors: whitley cb. Am J Hum Genet. 1996 Jan;58(1):75-85. Am J Hum Genet. 1996. PMID: 8554071 Free PMC article.

7

Retroviral-mediated transfer of the iduronate-2-sulfatase gene into lymphocytes for treatment of mild Hunter syndrome (mucopolysaccharidosis type II).

Whitley CB, McIvor RS, Aronovich EL, Berry SA, Blazar BR, Burger SR, Kersey JH, King RA, Faras AJ, Latchaw RE, McCullough J, Pan D, Ramsay NK, Stroncek DF. Whitley CB, et al. Hum Gene Ther. 1996 Mar 1;7(4):537-49. doi: 10.1089/hum.1996.7.4-537. Hum Gene Ther. 1996. PMID: 8800749 No abstract available.

8

Preclinical studies of lymphocyte gene therapy for mild Hunter syndrome (mucopolysaccharidosis type II).

Braun SE, Pan D, Aronovich EL, Jonsson JJ, McIvor RS, Whitley CB. Braun SE, et al. Among authors: whitley cb. Hum Gene Ther. 1996 Feb 10;7(3):283-90. doi: 10.1089/hum.1996.7.3-283. Hum Gene Ther. 1996. PMID: 8835216

9

Genotype-phenotype correspondence in Sanfilippo syndrome type B.

Zhao HG, Aronovich EL, Whitley CB. Zhao HG, et al. Among authors: whitley cb. Am J Hum Genet. 1998 Jan;62(1):53-63. doi: 10.1086/301682. Am J Hum Genet. 1998. PMID: 9443875 Free PMC article.

10

Canine heparan sulfate sulfamidase and the molecular pathology underlying Sanfilippo syndrome type A in Dachshunds.

Aronovich EL, Carmichael KP, Morizono H, Koutlas IG, Deanching M, Hoganson G, Fischer A, Whitley CB. Aronovich EL, et al. Among authors: whitley cb. Genomics. 2000 Aug 15;68(1):80-4. doi: 10.1006/geno.2000.6275. Genomics. 2000. PMID: 10950929

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