Biesecker LG - Search Results

1

Gonadal mosaicism in severe Pallister-Hall syndrome.

Ng D, Johnston JJ, Turner JT, Boudreau EA, Wiggs EA, Theodore WH, Biesecker LG. Ng D, et al. Among authors: biesecker lg. Am J Med Genet A. 2004 Jan 30;124A(3):296-302. doi: 10.1002/ajmg.a.20338. Am J Med Genet A. 2004. PMID: 14708104

2

Familial Pallister-Hall syndrome.

Biesecker LG, Topf K, Graham JM Jr. Biesecker LG, et al. J Med Genet. 1994 Sep;31(9):740. doi: 10.1136/jmg.31.9.740-a. J Med Genet. 1994. PMID: 7880273 Free PMC article. No abstract available.

3

Autosomal dominant transmission of the Pallister-Hall syndrome.

Topf KF, Kletter GB, Kelch RP, Brunberg JA, Biesecker LG. Topf KF, et al. Among authors: biesecker lg. J Pediatr. 1993 Dec;123(6):943-6. doi: 10.1016/s0022-3476(05)80392-0. J Pediatr. 1993. PMID: 8229528

4

Pallister-Hall syndrome.

Biesecker LG, Graham JM Jr. Biesecker LG, et al. J Med Genet. 1996 Jul;33(7):585-9. doi: 10.1136/jmg.33.7.585. J Med Genet. 1996. PMID: 8818945 Free PMC article. No abstract available.

5

Report from the workshop on Pallister-Hall syndrome and related phenotypes.

Biesecker LG, Abbott M, Allen J, Clericuzio C, Feuillan P, Graham JM Jr, Hall J, Kang S, Olney AH, Lefton D, Neri G, Peters K, Verloes A. Biesecker LG, et al. Am J Med Genet. 1996 Oct 2;65(1):76-81. doi: 10.1002/(SICI)1096-8628(19961002)65:1<76::AID-AJMG12>3.0.CO;2-O. Am J Med Genet. 1996. PMID: 8914745 No abstract available.

6

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.

7

GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome.

Kang S, Graham JM Jr, Olney AH, Biesecker LG. Kang S, et al. Among authors: biesecker lg. Nat Genet. 1997 Mar;15(3):266-8. doi: 10.1038/ng0397-266. Nat Genet. 1997. PMID: 9054938

8

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.

9

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

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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