Petty EM - Search Results

1

Successful bone marrow transplantation in a patient with Schimke immuno-osseous dysplasia.

Petty EM, Yanik GA, Hutchinson RJ, Alter BP, Schmalstieg FC, Levine JE, Ginsburg D, Robillard JE, Castle VP. Petty EM, et al. J Pediatr. 2000 Dec;137(6):882-6. doi: 10.1067/mpd.2000.109147. J Pediatr. 2000. PMID: 11113849

2

Malignant triton tumor in a patient with Li-Fraumeni syndrome and a novel TP53 mutation.

Chao MM, Levine JE, Ruiz RE, Kohlmann WK, Bower MA, Petty EM, Mody RJ. Chao MM, et al. Among authors: petty em. Pediatr Blood Cancer. 2007 Dec;49(7):1000-4. doi: 10.1002/pbc.20700. Pediatr Blood Cancer. 2007. PMID: 16333835

3

Questioning the need for anonymous genetic counseling and testing.

Uhlmann WR, Ginsburg D, Gelehrter TD, Nicholson J, Petty EM. Uhlmann WR, et al. Among authors: petty em. Am J Hum Genet. 1996 Oct;59(4):968-70. Am J Hum Genet. 1996. PMID: 8808617 Free PMC article. No abstract available.

4

Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.

Boerkoel CF, Takashima H, John J, Yan J, Stankiewicz P, Rosenbarker L, André JL, Bogdanovic R, Burguet A, Cockfield S, Cordeiro I, Fründ S, Illies F, Joseph M, Kaitila I, Lama G, Loirat C, McLeod DR, Milford DV, Petty EM, Rodrigo F, Saraiva JM, Schmidt B, Smith GC, Spranger J, Stein A, Thiele H, Tizard J, Weksberg R, Lupski JR, Stockton DW. Boerkoel CF, et al. Among authors: petty em. Nat Genet. 2002 Feb;30(2):215-20. doi: 10.1038/ng821. Epub 2002 Jan 22. Nat Genet. 2002. PMID: 11799392

5

Spontaneous direct carotid-cavernous fistula in Ehlers-Danlos syndrome type IV: two case reports and a review of the literature.

Chuman H, Trobe JD, Petty EM, Schwarze U, Pepin M, Byers PH, Deveikis JP. Chuman H, et al. Among authors: petty em. J Neuroophthalmol. 2002 Jun;22(2):75-81. doi: 10.1097/00041327-200206000-00002. J Neuroophthalmol. 2002. PMID: 12131463 Review.

6

Genomic and expression analyses of alternatively spliced transcripts of the MLL septin-like fusion gene (MSF) that map to a 17q25 region of loss in breast and ovarian tumors.

Kalikin LM, Sims HL, Petty EM. Kalikin LM, et al. Among authors: petty em. Genomics. 2000 Jan 15;63(2):165-72. doi: 10.1006/geno.1999.6077. Genomics. 2000. PMID: 10673329

7

AXIN2-associated autosomal dominant ectodermal dysplasia and neoplastic syndrome.

Marvin ML, Mazzoni SM, Herron CM, Edwards S, Gruber SB, Petty EM. Marvin ML, et al. Among authors: petty em. Am J Med Genet A. 2011 Apr;155A(4):898-902. doi: 10.1002/ajmg.a.33927. Epub 2011 Mar 17. Am J Med Genet A. 2011. PMID: 21416598 Free PMC article.

8

Characterization of a stapes ankylosis family with a NOG mutation.

Brown DJ, Kim TB, Petty EM, Downs CA, Martin DM, Strouse PJ, Moroi SE, Gebarski SS, Lesperance MM. Brown DJ, et al. Among authors: petty em. Otol Neurotol. 2003 Mar;24(2):210-5. doi: 10.1097/00129492-200303000-00014. Otol Neurotol. 2003. PMID: 12621334

9

Genomic characterization of human SEC14L1 splice variants within a 17q25 candidate tumor suppressor gene region and identification of an unrelated embedded expressed sequence tag.

Kalikin LM, Bugeaud EM, Palmbos PL, Lyons RH Jr, Petty EM. Kalikin LM, et al. Among authors: petty em. Mamm Genome. 2001 Dec;12(12):925-9. doi: 10.1007/s00335-001-2073-3. Mamm Genome. 2001. PMID: 11707779 Free article.

10

Detailed deletion analysis of sporadic breast tumors defines an interstitial region of allelic loss on 17q25.

Kalikin LM, Qu X, Frank TS, Caduff RF, Svoboda SM, Law DJ, Petty EM. Kalikin LM, et al. Among authors: petty em. Genes Chromosomes Cancer. 1996 Sep;17(1):64-8. doi: 10.1002/(SICI)1098-2264(199609)17:1<64::AID-GCC10>3.0.CO;2-H. Genes Chromosomes Cancer. 1996. PMID: 8889509

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