Biesecker LG - Search Results

1

Identification of a mutation in liver glycogen phosphorylase in glycogen storage disease type VI.

Chang S, Rosenberg MJ, Morton H, Francomano CA, Biesecker LG. Chang S, et al. Among authors: biesecker lg. Hum Mol Genet. 1998 May;7(5):865-70. doi: 10.1093/hmg/7.5.865. Hum Mol Genet. 1998. PMID: 9536091

2

Detection of a subtle rearrangement of chromosome 22 using molecular techniques.

Biesecker LG, Rosenberg M, Dziadzio L, Ledbetter DH, Ning Y, Sarneso C, Rosenbaum K. Biesecker LG, et al. Am J Med Genet. 1995 Sep 25;58(4):389-94. doi: 10.1002/ajmg.1320580426. Am J Med Genet. 1995. PMID: 8533859 Review.

3

Isolation of the human chromosome 22q telomere and its application to detection of cryptic chromosomal abnormalities.

Ning Y, Rosenberg M, Biesecker LG, Ledbetter DH. Ning Y, et al. Among authors: biesecker lg. Hum Genet. 1996 Jun;97(6):765-9. doi: 10.1007/BF02346187. Hum Genet. 1996. PMID: 8641694

4

Characterization of familial partial 10p trisomy by chromosomal microdissection, FISH, and microsatellite dosage analysis.

Stone D, Ning Y, Guan XY, Kaiser-Kupfer M, Wynshaw-Boris A, Biesecker L. Stone D, et al. Hum Genet. 1996 Oct;98(4):396-402. doi: 10.1007/s004390050228. Hum Genet. 1996. PMID: 8792811

5

Exclusion of candidate loci and cholesterol biosynthetic abnormalities in familial Pallister-Hall syndrome.

Biesecker LG, Kang S, Schäffer AA, Abbott M, Kelley RI, Allen JC, Clericuzio C, Grebe T, Olney A, Graham JM Jr. Biesecker LG, et al. J Med Genet. 1996 Nov;33(11):947-51. doi: 10.1136/jmg.33.11.947. J Med Genet. 1996. PMID: 8950676 Free PMC article.

6

Linkage mapping and phenotypic analysis of autosomal dominant Pallister-Hall syndrome.

Kang S, Allen J, Graham JM Jr, Grebe T, Clericuzio C, Patronas N, Ondrey F, Green E, Schäffer A, Abbott M, Biesecker LG. Kang S, et al. Among authors: biesecker lg. J Med Genet. 1997 Jun;34(6):441-6. doi: 10.1136/jmg.34.6.441. J Med Genet. 1997. PMID: 9192261 Free PMC article.

7

Characterization of short tandem repeats from thirty-one human telomeres.

Rosenberg M, Hui L, Ma J, Nusbaum HC, Clark K, Robinson L, Dziadzio L, Swain PM, Keith T, Hudson TJ, Biesecker LG, Flint J. Rosenberg M, et al. Among authors: biesecker lg. Genome Res. 1997 Sep;7(9):917-23. doi: 10.1101/gr.7.9.917. Genome Res. 1997. PMID: 9314497 Free PMC article.

8

Gene structure and allelic expression assay of the human GLI3 gene.

Kang S, Rosenberg M, Ko VD, Biesecker LG. Kang S, et al. Among authors: biesecker lg. Hum Genet. 1997 Dec;101(2):154-7. doi: 10.1007/s004390050605. Hum Genet. 1997. PMID: 9402960

9

Spectral karyotyping refines cytogenetic diagnostics of constitutional chromosomal abnormalities.

Schröck E, Veldman T, Padilla-Nash H, Ning Y, Spurbeck J, Jalal S, Shaffer LG, Papenhausen P, Kozma C, Phelan MC, Kjeldsen E, Schonberg SA, O'Brien P, Biesecker L, du Manoir S, Ried T. Schröck E, et al. Among authors: biesecker l. Hum Genet. 1997 Dec;101(3):255-62. doi: 10.1007/s004390050626. Hum Genet. 1997. PMID: 9439652

10

Genetic and physical mapping of the McKusick-Kaufman syndrome.

Stone DL, Agarwala R, Schäffer AA, Weber JL, Vaske D, Oda T, Chandrasekharappa SC, Francomano CA, Biesecker LG. Stone DL, et al. Among authors: biesecker lg. Hum Mol Genet. 1998 Mar;7(3):475-81. doi: 10.1093/hmg/7.3.475. Hum Mol Genet. 1998. PMID: 9467007

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