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Biochemical abnormalities in Pearson syndrome.
Crippa BL, Leon E, Calhoun A, Lowichik A, Pasquali M, Longo N. Crippa BL, et al. Among authors: leon e. Am J Med Genet A. 2015 Mar;167A(3):621-8. doi: 10.1002/ajmg.a.36939. Am J Med Genet A. 2015. PMID: 25691415
Mosaic Down syndrome in a patient with low-level mosaicism detected by microarray.
Leon E, Zou YS, Milunsky JM. Leon E, et al. Am J Med Genet A. 2010 Dec;152A(12):3154-6. doi: 10.1002/ajmg.a.33739. Am J Med Genet A. 2010. PMID: 21108401
Partial trisomy 8 mosaicism due to a pseudoisodicentric chromosome 8.
Leon E, Jamal SM, Zou YS, Milunsky JM. Leon E, et al. Am J Med Genet A. 2011 Jul;155A(7):1740-4. doi: 10.1002/ajmg.a.34073. Epub 2011 Jun 10. Am J Med Genet A. 2011. PMID: 21671393
A de novo T73I mutation in PTPN11 in a neonate with severe and prolonged congenital thrombocytopenia and Noonan syndrome.
Christensen RD, Yaish HM, Leon EL, Sola-Visner MC, Agrawal PB. Christensen RD, et al. Neonatology. 2013;104(1):1-5. doi: 10.1159/000346375. Epub 2013 Feb 22. Neonatology. 2013. PMID: 23446178
Concurrent diagnoses of Prader-Willi syndrome and GM2 gangliosidosis caused by uniparental disomy of chromosome 15.
Regier DS, Leon E, Counts DR, Tifft CJ, Zand DJ. Regier DS, et al. Among authors: leon e. Am J Med Genet A. 2015 Aug;167A(8):1944-8. doi: 10.1002/ajmg.a.37090. Epub 2015 Apr 21. Am J Med Genet A. 2015. PMID: 25900722 No abstract available.
CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype.
Menke LA, van Belzen MJ, Alders M, Cristofoli F; DDD Study, Ehmke N, Fergelot P, Foster A, Gerkes EH, Hoffer MJ, Horn D, Kant SG, Lacombe D, Leon E, Maas SM, Melis D, Muto V, Park SM, Peeters H, Peters DJ, Pfundt R, van Ravenswaaij-Arts CM, Tartaglia M, Hennekam RC. Menke LA, et al. Among authors: leon e. Am J Med Genet A. 2016 Oct;170(10):2681-93. doi: 10.1002/ajmg.a.37800. Epub 2016 Jun 17. Am J Med Genet A. 2016. PMID: 27311832
RASA1 analysis guides management in a family with capillary malformation-arteriovenous malformation.
Flore LA, Leon E, Maher TA, Milunsky JM. Flore LA, et al. Among authors: leon e. J Pediatr Genet. 2012 Jun;1(2):125-9. doi: 10.3233/PGE-2012-020. J Pediatr Genet. 2012. PMID: 27625812 Free PMC article.
Biotin-thiamine responsive basal ganglia disease: Identification of a pyruvate peak on brain spectroscopy, novel mutation in SLC19A3, and calculation of prevalence based on allele frequencies from aggregated next-generation sequencing data.
Ferreira CR, Whitehead MT, Leon E. Ferreira CR, et al. Among authors: leon e. Am J Med Genet A. 2017 Jun;173(6):1502-1513. doi: 10.1002/ajmg.a.38189. Epub 2017 Apr 12. Am J Med Genet A. 2017. PMID: 28402605
Intellectual disability and epilepsy due to the K/L-mediated Xq28 duplication: Further evidence of a distinct, dosage-dependent phenotype.
Ward DI, Buckley BA, Leon E, Diaz J, Galegos MF, Hofherr S, Lewanda AF. Ward DI, et al. Among authors: leon e. Am J Med Genet A. 2018 Mar;176(3):551-559. doi: 10.1002/ajmg.a.38524. Epub 2018 Jan 17. Am J Med Genet A. 2018. PMID: 29341460 Free PMC article.
Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome.
Menke LA; DDD study, Gardeitchik T, Hammond P, Heimdal KR, Houge G, Hufnagel SB, Ji J, Johansson S, Kant SG, Kinning E, Leon EL, Newbury-Ecob R, Paolacci S, Pfundt R, Ragge NK, Rinne T, Ruivenkamp C, Saitta SC, Sun Y, Tartaglia M, Terhal PA, van Essen AJ, Vigeland MD, Xiao B, Hennekam RC. Menke LA, et al. Among authors: leon el. Am J Med Genet A. 2018 Apr;176(4):862-876. doi: 10.1002/ajmg.a.38626. Epub 2018 Feb 20. Am J Med Genet A. 2018. PMID: 29460469
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