Waye JS - Search Results

1

Limb defects in homozygous alpha-thalassemia: report of three cases.

Chitayat D, Silver MM, O'Brien K, Wyatt P, Waye JS, Chiu DH, Babul R, Thomas M. Chitayat D, et al. Among authors: waye js. Am J Med Genet. 1997 Jan 20;68(2):162-7. doi: 10.1002/(sici)1096-8628(19970120)68:2<162::aid-ajmg8>3.0.co;2-r. Am J Med Genet. 1997. PMID: 9028451

2

Diagnosis of arylsulfatase A deficiency.

Li ZG, Waye JS, Chang PL. Li ZG, et al. Among authors: waye js. Am J Med Genet. 1992 Aug 1;43(6):976-82. doi: 10.1002/ajmg.1320430614. Am J Med Genet. 1992. PMID: 1357970

3

Hb FM-Fort Ripley: confirmation of autosomal dominant inheritance and diagnosis by PCR and direct nucleotide sequencing.

Hain RD, Chitayat D, Cooper R, Bandler E, Eng B, Chui DH, Waye JS, Freedman MH. Hain RD, et al. Among authors: waye js. Hum Mutat. 1994;3(3):239-42. doi: 10.1002/humu.1380030310. Hum Mutat. 1994. PMID: 7517266

4

Filipino beta-thalassemia due to a large deletion: identification of the deletion endpoints and polymerase chain reaction (PCR)-based diagnosis.

Waye JS, Eng B, Hunt JA, Chui DH. Waye JS, et al. Hum Genet. 1994 Nov;94(5):530-2. doi: 10.1007/BF00211021. Hum Genet. 1994. PMID: 7959690

5

Complications in the genotypic molecular diagnosis of pseudo arylsulfatase A deficiency.

Shen N, Li ZG, Waye JS, Francis G, Chang PL. Shen N, et al. Among authors: waye js. Am J Med Genet. 1993 Mar 1;45(5):631-7. doi: 10.1002/ajmg.1320450523. Am J Med Genet. 1993. PMID: 8456837

6

PCR-based diagnosis of the Filipino (--(FIL)) and Thai (--(THAI)) alpha-thalassemia-1 deletions.

Eng B, Patterson M, Borys S, Chui DH, Waye JS. Eng B, et al. Among authors: waye js. Am J Hematol. 2000 Jan;63(1):54-6. doi: 10.1002/(sici)1096-8652(200001)63:1<54::aid-ajh12>3.0.co;2-b. Am J Hematol. 2000. PMID: 10602170 Free article.

7

A reliable screening test to identify adult carriers of the (--SEA) alpha zero-thalassemia deletion. Detection of embryonic zeta-globin chains by enzyme-linked immunosorbent assay.

Lafferty JD, Crowther MA, Waye JS, Chui DH. Lafferty JD, et al. Among authors: waye js. Am J Clin Pathol. 2000 Dec;114(6):927-31. doi: 10.1309/26G7-BQH4-93BV-UR0Q. Am J Clin Pathol. 2000. PMID: 11338482

8

Detection of severe nondeletional alpha-thalassemia mutations using a single-tube multiplex ARMS assay.

Eng B, Patterson M, Walker L, Chui DH, Waye JS. Eng B, et al. Among authors: waye js. Genet Test. 2001 Winter;5(4):327-9. doi: 10.1089/109065701753617471. Genet Test. 2001. PMID: 11960579

9

Smith-Lemli-Opitz syndrome: carrier frequency and spectrum of DHCR7 mutations in Canada.

Waye JS, Nakamura LM, Eng B, Hunnisett L, Chitayat D, Costa T, Nowaczyk MJ. Waye JS, et al. J Med Genet. 2002 Jun;39(6):E31. doi: 10.1136/jmg.39.6.e31. J Med Genet. 2002. PMID: 12070263 Free PMC article. No abstract available.

10

Three new alpha-thalassemia point mutations ascertained through newborn screening.

Eng B, Patterson M, Walker L, Hoppe C, Azimi M, Lee H, Giordano PC, Waye JS. Eng B, et al. Among authors: waye js. Hemoglobin. 2006;30(2):149-53. doi: 10.1080/03630260600642021. Hemoglobin. 2006. PMID: 16798638

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