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TELO2-related syndrome (You-Hoover-Fong syndrome): Description of 14 new affected individuals and review of the literature.
Albokhari D, Pritchard AB, Beil A, Muss C, Bupp C, Grange DK, Delplancq G, Heeley J, Zuteck M, Morrow MM, Kuentz P, Palculict TB, Hoover-Fong JE. Albokhari D, et al. Among authors: hoover fong je. Am J Med Genet A. 2023 May;191(5):1261-1272. doi: 10.1002/ajmg.a.63142. Epub 2023 Feb 16. Am J Med Genet A. 2023. PMID: 36797513 Review.
Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome.
Lynch DC, Revil T, Schwartzentruber J, Bhoj EJ, Innes AM, Lamont RE, Lemire EG, Chodirker BN, Taylor JP, Zackai EH, McLeod DR, Kirk EP, Hoover-Fong J, Fleming L, Savarirayan R; Care4Rare Canada; Majewski J, Jerome-Majewska LA, Parboosingh JS, Bernier FP. Lynch DC, et al. Nat Commun. 2014 Jul 22;5:4483. doi: 10.1038/ncomms5483. Nat Commun. 2014. PMID: 25047197 Free PMC article.
C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia.
Savarirayan R, Irving M, Bacino CA, Bostwick B, Charrow J, Cormier-Daire V, Le Quan Sang KH, Dickson P, Harmatz P, Phillips J, Owen N, Cherukuri A, Jayaram K, Jeha GS, Larimore K, Chan ML, Huntsman Labed A, Day J, Hoover-Fong J. Savarirayan R, et al. N Engl J Med. 2019 Jul 4;381(1):25-35. doi: 10.1056/NEJMoa1813446. Epub 2019 Jun 18. N Engl J Med. 2019. PMID: 31269546 Clinical Trial.
Hearing screening in children with skeletal dysplasia.
Tunkel DE, Kerbavaz R, Smith B, Rose-Hardison D, Alade Y, Hoover-Fong J. Tunkel DE, et al. Arch Otolaryngol Head Neck Surg. 2011 Dec;137(12):1236-9. doi: 10.1001/archoto.2011.206. Arch Otolaryngol Head Neck Surg. 2011. PMID: 22183904
Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1.
Kaplan FS, Xu M, Seemann P, Connor JM, Glaser DL, Carroll L, Delai P, Fastnacht-Urban E, Forman SJ, Gillessen-Kaesbach G, Hoover-Fong J, Köster B, Pauli RM, Reardon W, Zaidi SA, Zasloff M, Morhart R, Mundlos S, Groppe J, Shore EM. Kaplan FS, et al. Hum Mutat. 2009 Mar;30(3):379-90. doi: 10.1002/humu.20868. Hum Mutat. 2009. PMID: 19085907 Free PMC article.
Multidisciplinary Care of Neurosurgical Patients with Genetic Syndromes.
Villegas MA, Okenfuss E, Savarirayan R, White K, Hoover-Fong J, Bober MB, Duker A, Legare JM. Villegas MA, et al. Neurosurg Clin N Am. 2022 Jan;33(1):7-15. doi: 10.1016/j.nec.2021.09.002. Epub 2021 Oct 26. Neurosurg Clin N Am. 2022. PMID: 34801144 Review.
The characterization of twenty sequenced human genomes.
Pelak K, Shianna KV, Ge D, Maia JM, Zhu M, Smith JP, Cirulli ET, Fellay J, Dickson SP, Gumbs CE, Heinzen EL, Need AC, Ruzzo EK, Singh A, Campbell CR, Hong LK, Lornsen KA, McKenzie AM, Sobreira NL, Hoover-Fong JE, Milner JD, Ottman R, Haynes BF, Goedert JJ, Goldstein DB. Pelak K, et al. PLoS Genet. 2010 Sep 9;6(9):e1001111. doi: 10.1371/journal.pgen.1001111. PLoS Genet. 2010. PMID: 20838461 Free PMC article.
97 results