Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 51

1.

Clinical consequences of an increasing trend of preferential use of cultured villi for molecular diagnosis by CVS.

Aina-Mumuney A, Wood ED, Corson VL, Stetten G, Jari S, Boehm CD, Blakemore KJ.

Prenat Diagn. 2008 Apr;28(4):332-4. doi: 10.1002/pd.1953.

PMID:
18330858
2.

Robust fragile X (CGG)n genotype classification using a methylation specific triple PCR assay.

Zhou Y, Law HY, Boehm CD, Yoon CS, Cutting GR, Ng IS, Chong SS.

J Med Genet. 2004 Apr;41(4):e45. No abstract available.

3.

The development of a highly informative mouse Simple Sequence Length Polymorphism (SSLP) marker set and construction of a mouse family tree using parsimony analysis.

Witmer PD, Doheny KF, Adams MK, Boehm CD, Dizon JS, Goldstein JL, Templeton TM, Wheaton AM, Dong PN, Pugh EW, Nussbaum RL, Hunter K, Kelmenson JA, Rowe LB, Brownstein MJ.

Genome Res. 2003 Mar;13(3):485-91.

4.

ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations.

Kemp S, Pujol A, Waterham HR, van Geel BM, Boehm CD, Raymond GV, Cutting GR, Wanders RJ, Moser HW.

Hum Mutat. 2001 Dec;18(6):499-515. Review.

PMID:
11748843
5.

Simplified multiplex-PCR diagnosis of common southeast asian deletional determinants of alpha-thalassemia.

Chong SS, Boehm CD, Cutting GR, Higgs DR.

Clin Chem. 2000 Oct;46(10):1692-5. No abstract available.

6.

Single-tube multiplex-PCR screen for common deletional determinants of alpha-thalassemia.

Chong SS, Boehm CD, Higgs DR, Cutting GR.

Blood. 2000 Jan 1;95(1):360-2.

7.

Accurate DNA-based diagnostic and carrier testing for X-linked adrenoleukodystrophy.

Boehm CD, Cutting GR, Lachtermacher MB, Moser HW, Chong SS.

Mol Genet Metab. 1999 Feb;66(2):128-36.

PMID:
10068516
8.

Switch from monoallelic to biallelic human IGF2 promoter methylation during aging and carcinogenesis.

Issa JP, Vertino PM, Boehm CD, Newsham IF, Baylin SB.

Proc Natl Acad Sci U S A. 1996 Oct 15;93(21):11757-62.

9.

Cystic fibrosis carrier population screening in the primary care setting.

Loader S, Caldwell P, Kozyra A, Levenkron JC, Boehm CD, Kazazian HH Jr, Rowley PT.

Am J Hum Genet. 1996 Jul;59(1):234-47.

10.

Two novel beta-thalassemia alleles: poly A signal (AATAAA-->AAAA) and -92 C-->T.

Kimberland ML, Boehm CD, Kazazian HH Jr.

Hum Mutat. 1995;5(3):275-6. No abstract available.

PMID:
7599641
11.

A new retrotransposable human L1 element from the LRE2 locus on chromosome 1q produces a chimaeric insertion.

Holmes SE, Dombroski BA, Krebs CM, Boehm CD, Kazazian HH Jr.

Nat Genet. 1994 Jun;7(2):143-8.

PMID:
7920631
12.

Frequency and stability of the fragile X premutation.

Reiss AL, Kazazian HH Jr, Krebs CM, McAughan A, Boehm CD, Abrams MT, Nelson DL.

Hum Mol Genet. 1994 Mar;3(3):393-8.

PMID:
8012350
13.

Increased echogenicity in the fetal abdomen: use of DNA analysis to establish a diagnosis of cystic fibrosis.

Hogge WA, Hogge JS, Boehm CD, Sanders RC.

J Ultrasound Med. 1993 Aug;12(8):451-4.

PMID:
8411328
14.

Familial neurofibromatosis type 1: clinical experience with DNA testing.

Hofman KJ, Boehm CD.

J Pediatr. 1992 Mar;120(3):394-8.

PMID:
1347082
15.

The molecular basis of genetic disease.

Boehm CD, Kazazian HH Jr.

Curr Opin Biotechnol. 1990 Dec;1(2):180-7. Review.

PMID:
1367855
16.

Gene defects in beta-thalassemia and their prenatal diagnosis.

Kazazian HH Jr, Dowling CE, Boehm CD, Warren TC, Economou EP, Katz J, Antonarakis SE.

Ann N Y Acad Sci. 1990;612:1-14. Review. No abstract available.

PMID:
1705403
17.

Phylogeny of human beta-globin haplotypes and its implications for recent human evolution.

Long JC, Chakravarti A, Boehm CD, Antonarakis S, Kazazian HH.

Am J Phys Anthropol. 1990 Jan;81(1):113-30.

PMID:
1967905
18.
19.

Phenylketonuria in the Greek population. Haplotype analysis of the phenylalanine hydroxylase gene and identification of a PKU mutation.

Hofman KJ, Antonarakis SE, Missiou-Tsangaraki S, Boehm CD, Valle D.

Mol Biol Med. 1989 Jun;6(3):245-50.

PMID:
2615649
20.

Prenatal diagnosis of sickle cell anemia--1988.

Kazazian HH Jr, Phillips DG, Dowling CE, Boehm CD.

Ann N Y Acad Sci. 1989;565:44-7. No abstract available.

PMID:
2774428
21.

Identification of carriers of Duchenne muscular dystrophy: value of molecular analysis.

LeRoy BS, Uhrhammer NA, Steere KJ, Boehm CD, King RA, Rich SS, Williams PP, Smith SA, de Martinville B.

Am J Med Genet. 1988 Nov;31(3):709-21.

PMID:
2906525
22.

Molecular basis and prenatal diagnosis of beta-thalassemia.

Kazazian HH Jr, Boehm CD.

Blood. 1988 Oct;72(4):1107-16. Review.

23.

Diagnosis of sickle cell anemia and beta-thalassemia with enzymatically amplified DNA and nonradioactive allele-specific oligonucleotide probes.

Saiki RK, Chang CA, Levenson CH, Warren TC, Boehm CD, Kazazian HH Jr, Erlich HA.

N Engl J Med. 1988 Sep 1;319(9):537-41.

PMID:
3405266
24.

Molecular characterization of a beta zero-thalassemia resulting from a 1.4 kilobase deletion.

Anand R, Boehm CD, Kazazian HH Jr, Vanin EF.

Blood. 1988 Aug;72(2):636-41.

25.

Prenatal diagnosis and carrier detection by DNA analysis.

Boehm CD.

Prog Med Genet. 1988;7:143-79. Review. No abstract available.

PMID:
3277252
26.

On the origin and spread of beta-thalassemia: recurrent observation of four mutations in different ethnic groups.

Wong C, Antonarakis SE, Goff SC, Orkin SH, Boehm CD, Kazazian HH Jr.

Proc Natl Acad Sci U S A. 1986 Sep;83(17):6529-32.

27.

Characterization of a spontaneous mutation to a beta-thalassemia allele.

Kazazian HH Jr, Orkin SH, Boehm CD, Goff SC, Wong C, Dowling CE, Newburger PE, Knowlton RG, Brown V, Donis-Keller H.

Am J Hum Genet. 1986 Jun;38(6):860-7.

28.

Nonuniform recombination within the human beta-globin gene cluster: A reply to B. S. Weir and W. G. Hill.

Chakravarti A, Buetow KH, Antonarakis SE, Waber PG, Boehm CD, Kazazian HH.

Am J Hum Genet. 1986 May;38(5):779-81. No abstract available.

29.

Use of oligonucleotide hybridization in the characterization of a beta zero-thalassemia gene (beta 37 TGG----TGA) in a Saudi Arabian family.

Boehm CD, Dowling CE, Waber PG, Giardina PJ, Kazazian HH Jr.

Blood. 1986 Apr;67(4):1185-8. Erratum in: Blood 1986 Jul;68(1):323.

30.

Comparison of deficiency alleles of the beta-globin and factor VIII:C genes: new lessons from a giant gene.

Kazazian HH Jr, Antonarakis SE, Youssoufian H, Dowling CE, Phillips DG, Wong C, Boehm CD.

Cold Spring Harb Symp Quant Biol. 1986;51 Pt 1:371-9. No abstract available.

PMID:
3107876
31.

Evidence supporting a single origin of the beta(C)-globin gene in blacks.

Boehm CD, Dowling CE, Antonarakis SE, Honig GR, Kazazian HH Jr.

Am J Hum Genet. 1985 Jul;37(4):771-7.

32.

Prenatal diagnosis of hemoglobinopathies by DNA analysis.

Kazazian HH Jr, Boehm CD, Dowling CE.

Ann N Y Acad Sci. 1985;445:337-48. No abstract available.

PMID:
2990302
33.

Concordance of a point mutation 5' to the G gamma globin gene with G gamma beta +. Hereditary persistence of fetal hemoglobin in the black population.

Collins FS, Boehm CD, Waber PG, Stoeckert CJ Jr, Weissman SM, Forget BG, Kazazian HH Jr.

Blood. 1984 Dec;64(6):1292-6.

34.

Nonuniform recombination within the human beta-globin gene cluster.

Chakravarti A, Buetow KH, Antonarakis SE, Waber PG, Boehm CD, Kazazian HH.

Am J Hum Genet. 1984 Nov;36(6):1239-58.

35.

Error in prenatal diagnosis by DNA analysis.

Boehm CD, Kazazian HH Jr.

N Engl J Med. 1984 Jul 5;311(1):58. No abstract available.

PMID:
6727974
36.

Molecular characterization of seven beta-thalassemia mutations in Asian Indians.

Kazazian HH Jr, Orkin SH, Antonarakis SE, Sexton JP, Boehm CD, Goff SC, Waber PG.

EMBO J. 1984 Mar;3(3):593-6.

37.

Origin of the beta S-globin gene in blacks: the contribution of recurrent mutation or gene conversion or both.

Antonarakis SE, Boehm CD, Serjeant GR, Theisen CE, Dover GJ, Kazazian HH Jr.

Proc Natl Acad Sci U S A. 1984 Feb;81(3):853-6.

38.

Prenatal detection of an unstable ring 21 chromosome.

Stetten G, Sroka B, Corson VL, Boehm CD.

Hum Genet. 1984;68(4):310-3.

PMID:
6510909
39.

Hemoglobin E in Europeans: further evidence for multiple origins of the beta E-globin gene.

Kazazian HH Jr, Waber PG, Boehm CD, Lee JI, Antonarakis SE, Fairbanks VF.

Am J Hum Genet. 1984 Jan;36(1):212-7.

40.

beta-Thalassemia due to a deletion of the nucleotide which is substituted in the beta S-globin gene.

Kazazian HH Jr, Orkin SH, Boehm CD, Sexton JP, Antonarakis SE.

Am J Hum Genet. 1983 Sep;35(5):1028-33.

41.

Prenatal diagnosis of hemoglobinopathies--1983.

Boehm CD, Kazazian HH Jr.

Semin Perinatol. 1983 Jul;7(3):175-83. Review. No abstract available.

PMID:
6316558
42.

Prenatal diagnosis using DNA polymorphisms. Report on 95 pregnancies at risk for sickle-cell disease or beta-thalassemia.

Boehm CD, Antonarakis SE, Phillips JA 3rd, Stetten G, Kazazian HH Jr.

N Engl J Med. 1983 May 5;308(18):1054-8.

PMID:
6300677
43.

Use of haplotype analysis in the beta-globin gene cluster to discover beta-thalassemia mutations.

Kazazian HH Jr, Antonarakis SE, Cheng T, Boehm CD, Waber PG.

Prog Clin Biol Res. 1983;134:91-8.

PMID:
6665005
44.

Evidence for multiple origins of the beta E-globin gene in Southeast Asia.

Antonarakis SE, Orkin SH, Kazazian HH Jr, Goff SC, Boehm CD, Waber PG, Sexton JP, Ostrer H, Fairbanks VF, Chakravarti A.

Proc Natl Acad Sci U S A. 1982 Nov;79(21):6608-11.

45.

Improved detection of the sickle mutation by DNA analysis: application to prenatal diagnosis.

Orkin SH, Little PF, Kazazian HH Jr, Boehm CD.

N Engl J Med. 1982 Jul 1;307(1):32-6. No abstract available.

PMID:
6176867
46.

Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster.

Orkin SH, Kazazian HH Jr, Antonarakis SE, Goff SC, Boehm CD, Sexton JP, Waber PG, Giardina PJ.

Nature. 1982 Apr 15;296(5858):627-31. No abstract available.

PMID:
6280057
47.

Prenatal diagnosis by restriction analysis: methodology and experience.

Boehm CD, Phillips JA 3rd, Antonarakis S, Kazazian HH Jr.

Prog Clin Biol Res. 1982;98:17-26. No abstract available.

PMID:
6292954
48.

Nonrandom association of polymorphic restriction sites in the beta-globin gene cluster.

Antonarakis SE, Boehm CD, Giardina PJ, Kazazian HH Jr.

Proc Natl Acad Sci U S A. 1982 Jan;79(1):137-41.

49.

Population heterogeneity of the Hpa I restriction site associated with the beta globin gene: implications for prenatal diagnosis.

Panny SR, Scott AF, Smith KD, Phillips JA 3rd, Kazazian HH Jr, Talbot CC Jr, Boehm CD.

Am J Hum Genet. 1981 Jan;33(1):25-35.

50.

Prenatal diagnosis of beta-thalassemias by amniocentesis: linkage analysis using multiple polymorphic restriction endonuclease sites.

Kazazian HH Jr, Phillips JA 3rd, Boehm CD, Vik TA, Mahoney MJ, Ritchey AK.

Blood. 1980 Nov;56(5):926-30.

Supplemental Content

Loading ...
Support Center