Biesecker LG - Search Results

1

Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene.

Ulucan H, Gül D, Sapp JC, Cockerham J, Johnston JJ, Biesecker LG. Ulucan H, et al. Among authors: biesecker lg. BMC Med Genet. 2008 Oct 23;9:92. doi: 10.1186/1471-2350-9-92. BMC Med Genet. 2008. PMID: 18947413 Free PMC article.

2

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.

3

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.

4

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

5

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.

6

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

7

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

8

Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation.

Biesecker LG, Happle R, Mulliken JB, Weksberg R, Graham JM Jr, Viljoen DL, Cohen MM Jr. Biesecker LG, et al. Am J Med Genet. 1999 Jun 11;84(5):389-95. doi: 10.1002/(sici)1096-8628(19990611)84:5<389::aid-ajmg1>3.0.co;2-o. Am J Med Genet. 1999. PMID: 10360391 Review.

9

Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome.

Stone DL, Slavotinek A, Bouffard GG, Banerjee-Basu S, Baxevanis AD, Barr M, Biesecker LG. Stone DL, et al. Among authors: biesecker lg. Nat Genet. 2000 May;25(1):79-82. doi: 10.1038/75637. Nat Genet. 2000. PMID: 10802661

10

Overlap of PIV syndrome, VACTERL and Pallister-Hall syndrome: clinical and molecular analysis.

Killoran CE, Abbott M, McKusick VA, Biesecker LG. Killoran CE, et al. Among authors: biesecker lg. Clin Genet. 2000 Jul;58(1):28-30. doi: 10.1034/j.1399-0004.2000.580105.x. Clin Genet. 2000. PMID: 10945658

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