Prucka S - Search Results

1

Overlapping phenotype of Wolf-Hirschhorn and Beckwith-Wiedemann syndromes in a girl with der(4)t(4;11)(pter;pter).

Mikhail FM, Sathienkijkanchai A, Robin NH, Prucka S, Biggerstaff JS, Komorowski J, Andersson R, Bruder CE, Piotrowski A, Diaz de Ståhl T, Dumanski JP, Carroll AJ. Mikhail FM, et al. Among authors: prucka s. Am J Med Genet A. 2007 Aug 1;143A(15):1760-6. doi: 10.1002/ajmg.a.31821. Am J Med Genet A. 2007. PMID: 17603794

2

Isolated facial hemihyperplasia: manifestation of Beckwith-Wiedemann syndrome.

Sathienkijkanchai A, Prucka SK, Grant JH, Robin NH. Sathienkijkanchai A, et al. Among authors: prucka sk. J Craniofac Surg. 2008 Jan;19(1):279-83. doi: 10.1097/SCS.0b013e31815ca067. J Craniofac Surg. 2008. PMID: 18216702

3

Clefting, amniotic bands, and polydactyly: a distinct phenotype that supports an intrinsic mechanism for amniotic band sequence.

Robin NH, Franklin J, Prucka S, Ryan AB, Grant JH. Robin NH, et al. Among authors: prucka s. Am J Med Genet A. 2005 Sep 1;137A(3):298-301. doi: 10.1002/ajmg.a.30885. Am J Med Genet A. 2005. PMID: 16088913 Review.

4

Familial transmission of oculoauriculovertebral spectrum (Goldenhar syndrome) is not due to mutations in either EYA1 or SALL1.

Goodin K, Prucka S, Woolley AL, Kohlhase J, Smith RJ, Grant J, Robin NH. Goodin K, et al. Among authors: prucka s. Am J Med Genet A. 2009 Mar;149A(3):535-8. doi: 10.1002/ajmg.a.32673. Am J Med Genet A. 2009. PMID: 19213029 No abstract available.

5

The use of role-play to enhance medical student understanding of genetic counseling.

McIlvried DE, Prucka SK, Herbst M, Barger C, Robin NH. McIlvried DE, et al. Among authors: prucka sk. Genet Med. 2008 Oct;10(10):739-44. doi: 10.1097/GIM.0b013e318187762e. Genet Med. 2008. PMID: 18813131 Free article.

6

Pediatric otolaryngologists' use of genetic testing.

Duncan RD, Prucka S, Wiatrak BJ, Smith RJ, Robin NH. Duncan RD, et al. Among authors: prucka s. Arch Otolaryngol Head Neck Surg. 2007 Mar;133(3):231-6. doi: 10.1001/archotol.133.3.231. Arch Otolaryngol Head Neck Surg. 2007. PMID: 17372079

7

AsktheGeneticist: five years of online experience.

Tesla C, Korf BR, Holt L, Prucka S, Robin NH, Descartes M, Lose E, Stembridge A, Epstein M, Warren S. Tesla C, et al. Among authors: prucka s. Genet Med. 2009 Apr;11(4):294-304. doi: 10.1097/GIM.0b013e31819b2441. Genet Med. 2009. PMID: 19282773 Free article.

8

The use of genetic testing in the evaluation of hearing impairment in a child.

Robin NH, Prucka SK, Woolley AL, Smith RJ. Robin NH, et al. Curr Opin Pediatr. 2005 Dec;17(6):709-12. doi: 10.1097/01.mop.0000181469.56484.5f. Curr Opin Pediatr. 2005. PMID: 16282775 Review.

9

Cancer risk assessment and the genetic counseling process: using hereditary breast and ovarian cancer as an example.

Prucka SK, McIlvried DE, Korf BR. Prucka SK, et al. Med Princ Pract. 2008;17(3):173-89. doi: 10.1159/000117790. Epub 2008 Apr 10. Med Princ Pract. 2008. PMID: 18408385 Free article. Review.

10

Single umbilical artery: what does it mean for the fetus? A case-control analysis of pathologically ascertained cases.

Prucka S, Clemens M, Craven C, McPherson E. Prucka S, et al. Genet Med. 2004 Jan-Feb;6(1):54-7. doi: 10.1097/01.gim.0000105743.91723.b0. Genet Med. 2004. PMID: 14726810

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