Pivnick EK - Search Results

1

Infant with midline thoracoabdominal schisis and limb defects.

Pivnick EK, Kaufman RA, Velagaleti GV, Gunther WM, Abramovici D. Pivnick EK, et al. Teratology. 1998 Nov;58(5):205-8. doi: 10.1002/(SICI)1096-9926(199811)58:5<205::AID-TERA7>3.0.CO;2-X. Teratology. 1998. PMID: 9839359

2

Neonatal progeroid (Wiedemann-Rautenstrauch) syndrome: report of five new cases and review.

Pivnick EK, Angle B, Kaufman RA, Hall BD, Pitukcheewanont P, Hersh JH, Fowlkes JL, Sanders LP, O'Brien JM, Carroll GS, Gunther WM, Morrow HG, Burghen GA, Ward JC. Pivnick EK, et al. Am J Med Genet. 2000 Jan 17;90(2):131-40. Am J Med Genet. 2000. PMID: 10607952 Review.

3

Rickets secondary to phosphate depletion. A sequela of antacid use in infancy.

Pivnick EK, Kerr NC, Kaufman RA, Jones DP, Chesney RW. Pivnick EK, et al. Clin Pediatr (Phila). 1995 Feb;34(2):73-8. doi: 10.1177/000992289503400202. Clin Pediatr (Phila). 1995. PMID: 7729110

4

Jacobsen syndrome: report of a patient with severe eye anomalies, growth hormone deficiency, and hypothyroidism associated with deletion 11 (q23q25) and review of 52 cases.

Pivnick EK, Velagaleti GV, Wilroy RS, Smith ME, Rose SR, Tipton RE, Tharapel AT. Pivnick EK, et al. J Med Genet. 1996 Sep;33(9):772-8. doi: 10.1136/jmg.33.9.772. J Med Genet. 1996. PMID: 8880580 Free PMC article. Review.

5

Simultaneous adrenocortical carcinoma and ganglioneuroblastoma in a child with Turner syndrome and germline p53 mutation.

Pivnick EK, Furman WL, Velagaleti GV, Jenkins JJ, Chase NA, Ribeiro RC. Pivnick EK, et al. J Med Genet. 1998 Apr;35(4):328-32. doi: 10.1136/jmg.35.4.328. J Med Genet. 1998. PMID: 9598730 Free PMC article.

6

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

7

Most Jacobsen syndrome deletion breakpoints occur distal to FRA11B.

Michaelis RC, Velagaleti GV, Jones C, Pivnick EK, Phelan MC, Boyd E, Tarleton J, Wilroy RS, Tunnacliffe A, Tharapel AT. Michaelis RC, et al. Among authors: pivnick ek. Am J Med Genet. 1998 Mar 19;76(3):222-8. Am J Med Genet. 1998. PMID: 9508241

8

Hypertrichosis, pigmentary retinopathy, and facial anomalies: a new syndrome?

Pivnick EK, Wilroy RS, Martens PR, Teather TC, Hashimoto K. Pivnick EK, et al. Am J Med Genet. 1996 Apr 24;62(4):386-90. doi: 10.1002/(SICI)1096-8628(19960424)62:4<386::AID-AJMG11>3.0.CO;2-K. Am J Med Genet. 1996. PMID: 8723069

9

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.

10

Gorlin syndrome associated with midline nasal dermoid cyst.

Pivnick EK, Walter AW, Lawrence MD, Smith ME. Pivnick EK, et al. J Med Genet. 1996 Aug;33(8):704-6. doi: 10.1136/jmg.33.8.704. J Med Genet. 1996. PMID: 8863166 Free PMC article.

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