Heilstedt H - Search Results

1

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: heilstedt h. 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

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

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.

4

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

5

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

6

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.

7

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

8

Infantile hypotonia as a presentation of Rett syndrome.

Heilstedt HA, Shahbazian MD, Lee B. Heilstedt HA, et al. Am J Med Genet. 2002 Aug 15;111(3):238-42. doi: 10.1002/ajmg.10633. Am J Med Genet. 2002. PMID: 12210319

9

Terminal osseous dysplasia and pigmentary defects: clinical characterization of a novel male lethal X-linked syndrome.

Bacino CA, Stockton DW, Sierra RA, Heilstedt HA, Lewandowski R, Van den Veyver IB. Bacino CA, et al. Among authors: heilstedt ha. Am J Med Genet. 2000 Sep 11;94(2):102-12. doi: 10.1002/1096-8628(20000911)94:2<102::aid-ajmg2>3.0.co;2-x. Am J Med Genet. 2000. PMID: 10982966

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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