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Normative growth charts for individuals with Costello syndrome.
Sammon MR, Doyle D, Hopkins E, Sol-Church K, Stabley DL, McGready J, Schulze K, Alade Y, Hoover-Fong J, Gripp KW. Sammon MR, et al. Am J Med Genet A. 2012 Nov;158A(11):2692-9. doi: 10.1002/ajmg.a.35534. Epub 2012 Aug 7. Am J Med Genet A. 2012. PMID: 22887473
Not just a carrier: Clinical presentation and management of patients with heterozygous disease-causing alkaline phosphatase (ALPL) variants identified through expanded carrier screening.
Beck NM, Sagaser KG, Lawson CS, Hertenstein C, Jachens A, Forster KR, Miller KA, Jelin AC, Blakemore KJ, Hoover-Fong J. Beck NM, et al. Mol Genet Genomic Med. 2023 Jan;11(1):e2056. doi: 10.1002/mgg3.2056. Epub 2022 Nov 28. Mol Genet Genomic Med. 2023. PMID: 36444396 Free PMC article.
Weight for age charts for children with achondroplasia.
Hoover-Fong JE, McGready J, Schulze KJ, Barnes H, Scott CI. Hoover-Fong JE, et al. Am J Med Genet A. 2007 Oct 1;143A(19):2227-35. doi: 10.1002/ajmg.a.31873. Am J Med Genet A. 2007. PMID: 17764078
Hearing loss in skeletal dysplasia patients.
Tunkel D, Alade Y, Kerbavaz R, Smith B, Rose-Hardison D, Hoover-Fong J. Tunkel D, et al. Am J Med Genet A. 2012 Jul;158A(7):1551-5. doi: 10.1002/ajmg.a.35373. Epub 2012 May 24. Am J Med Genet A. 2012. PMID: 22628261
Blood pressure in adults with short stature skeletal dysplasias.
Hoover-Fong J, Alade AY, Ain M, Berkowitz I, Bober M, Carter E, Hecht J, Hoerschemeyer D, Krakow D, MacCarrick G, Mackenzie WG, Mendoza R, Okenfuss E, Popplewell D, Raggio C, Schulze K, McGready J. Hoover-Fong J, et al. Am J Med Genet A. 2020 Jan;182(1):150-161. doi: 10.1002/ajmg.a.61402. Epub 2019 Nov 15. Am J Med Genet A. 2020. PMID: 31729121
100 results