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Page 1
Newborn screening for X-linked adrenoleukodystrophy (X-ALD): validation of a combined liquid chromatography-tandem mass spectrometric (LC-MS/MS) method.
Hubbard WC, Moser AB, Liu AC, Jones RO, Steinberg SJ, Lorey F, Panny SR, Vogt RF Jr, Macaya D, Turgeon CT, Tortorelli S, Raymond GV. Hubbard WC, et al. Among authors: panny sr. Mol Genet Metab. 2009 Jul;97(3):212-20. doi: 10.1016/j.ymgme.2009.03.010. Epub 2009 Apr 1. Mol Genet Metab. 2009. PMID: 19423374
A case-control study of nonsyndromic oral clefts in Maryland.
Beaty TH, Wang H, Hetmanski JB, Fan YT, Zeiger JS, Liang KY, Chiu YF, Vanderkolk CA, Seifert KC, Wulfsberg EA, Raymond G, Panny SR, McIntosh I. Beaty TH, et al. Among authors: panny sr. Ann Epidemiol. 2001 Aug;11(6):434-42. doi: 10.1016/s1047-2797(01)00222-8. Ann Epidemiol. 2001. PMID: 11454503
Testing for interaction between maternal smoking and TGFA genotype among oral cleft cases born in Maryland 1992-1996.
Beaty TH, Maestri NE, Hetmanski JB, Wyszynski DF, Vanderkolk CA, Simpson JC, McIntosh I, Smith EA, Zeiger JS, Raymond GV, Panny SR, Tifft CJ, Lewanda AF, Cristion CA, Wulfsberg EA. Beaty TH, et al. Among authors: panny sr. Cleft Palate Craniofac J. 1997 Sep;34(5):447-54. doi: 10.1597/1545-1569_1997_034_0447_tfibms_2.3.co_2. Cleft Palate Craniofac J. 1997. PMID: 9345615
False negative cystic fibrosis newborn screen.
Collaco JM, Panny SR, Hamosh A, Mogayzel PJ Jr. Collaco JM, et al. Among authors: panny sr. Clin Pediatr (Phila). 2010 Mar;49(3):214-6. doi: 10.1177/0009922809342893. Clin Pediatr (Phila). 2010. PMID: 20164071 No abstract available.
A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfecta.
Cabral WA, Barnes AM, Adeyemo A, Cushing K, Chitayat D, Porter FD, Panny SR, Gulamali-Majid F, Tishkoff SA, Rebbeck TR, Gueye SM, Bailey-Wilson JE, Brody LC, Rotimi CN, Marini JC. Cabral WA, et al. Among authors: panny sr. Genet Med. 2012 May;14(5):543-51. doi: 10.1038/gim.2011.44. Epub 2012 Jan 26. Genet Med. 2012. PMID: 22281939 Free PMC article.
27 results