Heilstedt HA - Search Results

1

Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions.

Yu W, Ballif BC, Kashork CD, Heilstedt HA, Howard LA, Cai WW, White LD, Liu W, Beaudet AL, Bejjani BA, Shaw CA, Shaffer LG. Yu W, et al. Among authors: heilstedt ha. Hum Mol Genet. 2003 Sep 1;12(17):2145-52. doi: 10.1093/hmg/ddg230. Epub 2003 Jul 15. Hum Mol Genet. 2003. PMID: 12915473

2

Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome.

Heilstedt HA, Ballif BC, Howard LA, Lewis RA, Stal S, Kashork CD, Bacino CA, Shapira SK, Shaffer LG. Heilstedt HA, et al. Am J Hum Genet. 2003 May;72(5):1200-12. doi: 10.1086/375179. Epub 2003 Apr 8. Am J Hum Genet. 2003. PMID: 12687501 Free PMC article.

3

Molecular refinement of the 1p36 deletion syndrome reveals size diversity and a preponderance of maternally derived deletions.

Wu YQ, Heilstedt HA, Bedell JA, May KM, Starkey DE, McPherson JD, Shapira SK, Shaffer LG. Wu YQ, et al. Among authors: heilstedt ha. Hum Mol Genet. 1999 Feb;8(2):313-21. doi: 10.1093/hmg/8.2.313. Hum Mol Genet. 1999. PMID: 9931339

4

Molecular and clinical characterization of a patient with duplication of 1p36.3 and metopic synostosis.

Heilstedt HA, Shapira SK, Gregg AR, Shaffer LG. Heilstedt HA, et al. Clin Genet. 1999 Aug;56(2):123-8. doi: 10.1034/j.1399-0004.1999.560205.x. Clin Genet. 1999. PMID: 10517248 Review.

5

Terminal deletion of 1p36.

Shaffer LG, Heilstedt HA. Shaffer LG, et al. Among authors: heilstedt ha. Lancet. 2001 Dec;358 Suppl:S9. doi: 10.1016/S0140-6736(01)07022-2. Lancet. 2001. PMID: 11784558 No abstract available.

6

Population data suggest that deletions of 1p36 are a relatively common chromosome abnormality.

Heilstedt HA, Ballif BC, Howard LA, Kashork CD, Shaffer LG. Heilstedt HA, et al. Clin Genet. 2003 Oct;64(4):310-6. doi: 10.1034/j.1399-0004.2003.00126.x. Clin Genet. 2003. PMID: 12974736

7

Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closure.

Gajecka M, Yu W, Ballif BC, Glotzbach CD, Bailey KA, Shaw CA, Kashork CD, Heilstedt HA, Ansel DA, Theisen A, Rice R, Rice DP, Shaffer LG. Gajecka M, et al. Among authors: heilstedt ha. Eur J Hum Genet. 2005 Feb;13(2):139-49. doi: 10.1038/sj.ejhg.5201302. Eur J Hum Genet. 2005. PMID: 15483646

8

Loss of the potassium channel beta-subunit gene, KCNAB2, is associated with epilepsy in patients with 1p36 deletion syndrome.

Heilstedt HA, Burgess DL, Anderson AE, Chedrawi A, Tharp B, Lee O, Kashork CD, Starkey DE, Wu YQ, Noebels JL, Shaffer LG, Shapira SK. Heilstedt HA, et al. Epilepsia. 2001 Sep;42(9):1103-11. doi: 10.1046/j.1528-1157.2001.08801.x. Epilepsia. 2001. PMID: 11580756 Free article.

9

Loss of the SKI proto-oncogene in individuals affected with 1p36 deletion syndrome is predicted by strain-dependent defects in Ski-/- mice.

Colmenares C, Heilstedt HA, Shaffer LG, Schwartz S, Berk M, Murray JC, Stavnezer E. Colmenares C, et al. Among authors: heilstedt ha. Nat Genet. 2002 Jan;30(1):106-9. doi: 10.1038/ng770. Epub 2001 Dec 3. Nat Genet. 2002. PMID: 11731796

10

A case of familial isolated hemihyperplasia.

Heilstedt HA, Bacino CA. Heilstedt HA, et al. BMC Med Genet. 2004 Feb 2;5:1. doi: 10.1186/1471-2350-5-1. BMC Med Genet. 2004. PMID: 15040809 Free PMC article.

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