Pivnick EK - Search Results

1

Alternative splicing of exons 29 and 30 in the neurofibromatosis type 1 gene.

Park VM, Kenwright KA, Sturtevant DB, Pivnick EK. Park VM, et al. Among authors: pivnick ek. Hum Genet. 1998 Oct;103(4):382-5. doi: 10.1007/s004390050837. Hum Genet. 1998. PMID: 9856477

2

Mutations in the conserved domain of SRY are uncommon in XY gonadal dysgenesis.

Pivnick EK, Wachtel S, Woods D, Simpson JL, Bishop CE. Pivnick EK, et al. Hum Genet. 1992 Nov;90(3):308-10. doi: 10.1007/BF00220087. Hum Genet. 1992. PMID: 1487248

3

A jumping Robertsonian translocation: a molecular and cytogenetic study.

Gross SJ, Tharapel AT, Phillips OP, Shulman LP, Pivnick EK, Park VM. Gross SJ, et al. Among authors: pivnick ek. Hum Genet. 1996 Sep;98(3):291-6. doi: 10.1007/s004390050209. Hum Genet. 1996. PMID: 8707296

4

Neurofibromatosis type 1 (NF1): a protein truncation assay yielding identification of mutations in 73% of patients.

Park VM, Pivnick EK. Park VM, et al. Among authors: pivnick ek. J Med Genet. 1998 Oct;35(10):813-20. doi: 10.1136/jmg.35.10.813. J Med Genet. 1998. PMID: 9783703 Free PMC article.

5

Bony orbital morphology in neurofibromatosis type 1 (NF1).

Kaste SC, Pivnick EK. Kaste SC, et al. Among authors: pivnick ek. J Med Genet. 1998 Aug;35(8):628-31. doi: 10.1136/jmg.35.8.628. J Med Genet. 1998. PMID: 9719366 Free PMC article.

6

Interpupillary distance in a normal black population.

Pivnick EK, Rivas ML, Tolley EA, Smith SD, Presbury GJ. Pivnick EK, et al. Clin Genet. 1999 Mar;55(3):182-91. doi: 10.1034/j.1399-0004.1999.550306.x. Clin Genet. 1999. PMID: 10334472

7

Visual evoked potentials in children with neurofibromatosis type 1.

Iannaccone A, McCluney RA, Brewer VR, Spiegel PH, Taylor JS, Kerr NC, Pivnick EK. Iannaccone A, et al. Among authors: pivnick ek. Doc Ophthalmol. 2002 Jul;105(1):63-81. doi: 10.1023/a:1015719803719. Doc Ophthalmol. 2002. PMID: 12152804

8

Hallermann-Streiff syndrome with hypopituitarism contributing to growth failure.

Pivnick EK, Burstein S, Wilroy RS, Kaufman RA, Ward JC. Pivnick EK, et al. Am J Med Genet. 1991 Dec 15;41(4):503-7. doi: 10.1002/ajmg.1320410425. Am J Med Genet. 1991. PMID: 1776645

9

Partial duplication of the long arm of chromosome 6: a clinically recognisable syndrome.

Pivnick EK, Qumsiyeh MB, Tharapel AT, Summitt JB, Wilroy RS. Pivnick EK, et al. J Med Genet. 1990 Aug;27(8):523-6. doi: 10.1136/jmg.27.8.523. J Med Genet. 1990. PMID: 2213846 Free PMC article. Review.

10

Adjacent-2 disjunction of a maternal t(9;22) leading to duplication 9pter----q22 and deficiency of 22pter----q11.2.

Pivnick EK, Wilroy RS, Summitt JB, Tucker B, Herrod HG, Tharapel AT. Pivnick EK, et al. Am J Med Genet. 1990 Sep;37(1):92-6. doi: 10.1002/ajmg.1320370121. Am J Med Genet. 1990. PMID: 2240050 Review.

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