Biesecker LG - Search Results

1

A de novo GLI3 mutation in a patient with acrocallosal syndrome.

Speksnijder L, Cohen-Overbeek TE, Knapen MF, Lunshof SM, Hoogeboom AJ, van den Ouwenland AM, de Coo IF, Lequin MH, Bolz HJ, Bergmann C, Biesecker LG, Willems PJ, Wessels MW. Speksnijder L, et al. Among authors: biesecker lg. Am J Med Genet A. 2013 Jun;161A(6):1394-400. doi: 10.1002/ajmg.a.35874. Epub 2013 Apr 30. Am J Med Genet A. 2013. PMID: 23633388

2

Long-term treatment with growth hormone improves final height in a patient with Pallister-Hall syndrome.

Galasso C, Scirè G, Fabbri F, Spadoni GL, Killoran CE, Biesecker LG, Boscherini B. Galasso C, et al. Among authors: biesecker lg. Am J Med Genet. 2001 Mar 1;99(2):128-31. doi: 10.1002/1096-8628(2001)9999:9999<::aid-ajmg1128>3.0.co;2-s. Am J Med Genet. 2001. PMID: 11241471

3

Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome.

Johnston JJ, Olivos-Glander I, Turner J, Aleck K, Bird LM, Mehta L, Schimke RN, Heilstedt H, Spence JE, Blancato J, Biesecker LG. Johnston JJ, et al. Among authors: biesecker lg. Am J Med Genet A. 2003 Dec 15;123A(3):236-42. doi: 10.1002/ajmg.a.20318. Am J Med Genet A. 2003. PMID: 14608643

4

What you can learn from one gene: GLI3.

Biesecker LG. Biesecker LG. J Med Genet. 2006 Jun;43(6):465-9. doi: 10.1136/jmg.2004.029181. J Med Genet. 2006. PMID: 16740916 Free PMC article. Review.

5

Elements of morphology: general terms for congenital anomalies.

Hennekam RC, Biesecker LG, Allanson JE, Hall JG, Opitz JM, Temple IK, Carey JC; Elements of Morphology Consortium. Hennekam RC, et al. Among authors: biesecker lg. Am J Med Genet A. 2013 Nov;161A(11):2726-33. doi: 10.1002/ajmg.a.36249. Epub 2013 Oct 3. Am J Med Genet A. 2013. PMID: 24124000

6

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

7

Strike three for GLI3.

Biesecker LG. Biesecker LG. Nat Genet. 1997 Nov;17(3):259-60. doi: 10.1038/ng1197-259. Nat Genet. 1997. PMID: 9354780 No abstract available.

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

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

10

Polydactyly: how many disorders and how many genes?

Biesecker LG. Biesecker LG. Am J Med Genet. 2002 Oct 15;112(3):279-83. doi: 10.1002/ajmg.10779. Am J Med Genet. 2002. PMID: 12357471 Review.

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