Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

98 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality.
Machado RD, Welch CL, Haimel M, Bleda M, Colglazier E, Coulson JD, Debeljak M, Ekstein J, Fineman JR, Golden WC, Griffin EL, Hadinnapola C, Harris MA, Hirsch Y, Hoover-Fong JE, Nogee L, Romer LH, Vesel S; NIHR Bioresource – Rare Diseases; Gräf S, Morrell NW, Southgate L, Chung WK. Machado RD, et al. Among authors: hoover fong je. J Med Genet. 2022 Sep;59(9):906-911. doi: 10.1136/jmedgenet-2021-107831. Epub 2021 Sep 7. J Med Genet. 2022. PMID: 34493544 Free PMC article.
Achondroplasia Natural History Study (CLARITY): 60-year experience with hydrocephalus in achondroplasia from four skeletal dysplasia centers.
Campbell J, Legare JM, Piatt J, Gough E, Pauli RM, Hashmi SS, Rodriguez-Buritica DF, Modaff P, Little ME, Serna ME, Smid CJ, Dujmusic L, Hecht JT, Hoover-Fong JE, Bober MB. Campbell J, et al. Among authors: hoover fong je. J Neurosurg Pediatr. 2023 Sep 15;32(6):649-656. doi: 10.3171/2023.7.PEDS2354. Print 2023 Dec 1. J Neurosurg Pediatr. 2023. PMID: 37877951
Mosaic trisomy 13: understanding origin using SNP array.
Jinawath N, Zambrano R, Wohler E, Palmquist MK, Hoover-Fong J, Hamosh A, Batista DA. Jinawath N, et al. J Med Genet. 2011 May;48(5):323-6. doi: 10.1136/jmg.2010.083931. Epub 2010 Nov 19. J Med Genet. 2011. PMID: 21097773
Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.
Telegrafi A, Webb BD, Robbins SM, Speck-Martins CE, FitzPatrick D, Fleming L, Redett R, Dufke A, Houge G, van Harssel JJT, Verloes A, Robles A, Manoli I, Engle EC; Moebius Syndrome Research Consortium; Jabs EW, Valle D, Carey J, Hoover-Fong JE, Sobreira NLM. Telegrafi A, et al. Am J Med Genet A. 2017 Oct;173(10):2763-2771. doi: 10.1002/ajmg.a.38375. Epub 2017 Aug 4. Am J Med Genet A. 2017. PMID: 28777491 Free PMC article.
Multicenter study of mortality in achondroplasia.
Hashmi SS, Gamble C, Hoover-Fong J, Alade AY, Pauli RM, Modaff P, Carney M, Brown C, Bober MB, Hecht JT. Hashmi SS, et al. Am J Med Genet A. 2018 Nov;176(11):2359-2364. doi: 10.1002/ajmg.a.40528. Epub 2018 Oct 1. Am J Med Genet A. 2018. PMID: 30276962
98 results