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Page 1
Exome sequencing identifies variants in infants with sacral agenesis.
Pitsava G, Feldkamp ML, Pankratz N, Lane J, Kay DM, Conway KM, Hobbs C, Shaw GM, Reefhuis J, Jenkins MM, Almli LM, Moore C, Werler M, Browne ML, Cunniff C, Olshan AF, Pangilinan F, Brody LC, Sicko RJ, Finnell RH, Bamshad MJ, McGoldrick D, Nickerson DA, Mullikin JC, Romitti PA, Mills JL; UW Center for Mendelian Genomics, NISC Comparative Sequencing Program and the National Birth Defects Prevention Study. Pitsava G, et al. Among authors: pangilinan f. Birth Defects Res. 2022 Apr;114(7):215-227. doi: 10.1002/bdr2.1987. Epub 2022 Mar 10. Birth Defects Res. 2022. PMID: 35274497 Free PMC article.
Evaluation of transcobalamin II polymorphisms as neural tube defect risk factors in an Irish population.
Swanson DA, Pangilinan F, Mills JL, Kirke PN, Conley M, Weiler A, Frey T, Parle-McDermott A, O'Leary VB, Seltzer RR, Moynihan KA, Molloy AM, Burke H, Scott JM, Brody LC. Swanson DA, et al. Among authors: pangilinan f. Birth Defects Res A Clin Mol Teratol. 2005 Apr;73(4):239-44. doi: 10.1002/bdra.20122. Birth Defects Res A Clin Mol Teratol. 2005. PMID: 15782407
Folate-related genes and omphalocele.
Mills JL, Druschel CM, Pangilinan F, Pass K, Cox C, Seltzer RR, Conley MR, Brody LC. Mills JL, et al. Among authors: pangilinan f. Am J Med Genet A. 2005 Jul 1;136(1):8-11. doi: 10.1002/ajmg.a.30772. Am J Med Genet A. 2005. PMID: 15937947
Folate-related gene polymorphisms as risk factors for cleft lip and cleft palate.
Mills JL, Molloy AM, Parle-McDermott A, Troendle JF, Brody LC, Conley MR, Cox C, Pangilinan F, Orr DJ, Earley M, McKiernan E, Lynn EC, Doyle A, Scott JM, Kirke PN. Mills JL, et al. Among authors: pangilinan f. Birth Defects Res A Clin Mol Teratol. 2008 Sep;82(9):636-43. doi: 10.1002/bdra.20491. Birth Defects Res A Clin Mol Teratol. 2008. PMID: 18661527 Free PMC article.
Analysis of the MTHFD1 promoter and risk of neural tube defects.
Carroll N, Pangilinan F, Molloy AM, Troendle J, Mills JL, Kirke PN, Brody LC, Scott JM, Parle-McDermott A. Carroll N, et al. Among authors: pangilinan f. Hum Genet. 2009 Apr;125(3):247-56. doi: 10.1007/s00439-008-0616-3. Epub 2009 Jan 8. Hum Genet. 2009. PMID: 19130090 Free PMC article.
Uncoupling protein 2 polymorphisms as risk factors for NTDs.
Mitchell A, Pangilinan F, Van der Meer J, Molloy AM, Troendle J, Conley M, Kirke PN, Scott JM, Brody LC, Mills JL. Mitchell A, et al. Among authors: pangilinan f. Birth Defects Res A Clin Mol Teratol. 2009 Feb;85(2):156-60. doi: 10.1002/bdra.20520. Birth Defects Res A Clin Mol Teratol. 2009. PMID: 19137581 Free PMC article.
Testing reported associations of genetic risk factors for oral clefts in a large Irish study population.
Carter TC, Molloy AM, Pangilinan F, Troendle JF, Kirke PN, Conley MR, Orr DJ, Earley M, McKiernan E, Lynn EC, Doyle A, Scott JM, Brody LC, Mills JL. Carter TC, et al. Among authors: pangilinan f. Birth Defects Res A Clin Mol Teratol. 2010 Feb;88(2):84-93. doi: 10.1002/bdra.20639. Birth Defects Res A Clin Mol Teratol. 2010. PMID: 19937600 Free PMC article.
Evaluation of 64 candidate single nucleotide polymorphisms as risk factors for neural tube defects in a large Irish study population.
Carter TC, Pangilinan F, Troendle JF, Molloy AM, VanderMeer J, Mitchell A, Kirke PN, Conley MR, Shane B, Scott JM, Brody LC, Mills JL. Carter TC, et al. Among authors: pangilinan f. Am J Med Genet A. 2011 Jan;155A(1):14-21. doi: 10.1002/ajmg.a.33755. Epub 2010 Dec 10. Am J Med Genet A. 2011. PMID: 21204206 Free PMC article.
61 results