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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. Among authors: carey j. 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.
A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.
Di Gioia SA, Connors S, Matsunami N, Cannavino J, Rose MF, Gilette NM, Artoni P, de Macena Sobreira NL, Chan WM, Webb BD, Robson CD, Cheng L, Van Ryzin C, Ramirez-Martinez A, Mohassel P, Leppert M, Scholand MB, Grunseich C, Ferreira CR, Hartman T, Hayes IM, Morgan T, Markie DM, Fagiolini M, Swift A, Chines PS, Speck-Martins CE, Collins FS, Jabs EW, Bönnemann CG, Olson EN; Moebius Syndrome Research Consortium; Carey JC, Robertson SP, Manoli I, Engle EC. Di Gioia SA, et al. Among authors: carey jc. Nat Commun. 2017 Jul 6;8:16077. doi: 10.1038/ncomms16077. Nat Commun. 2017. PMID: 28681861 Free PMC article.
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Paul MS, Michener SL, Pan H, Chan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N, Massingham L, Zech M, Wagner M, Engels H, Cremer K, Mangold E, Peters S, Trautmann J, Mester JL, Guillen Sacoto MJ, Person R, McDonnell PP, Cohen SR, Lusk L, Cohen ASA, Le Pichon JB, Pastinen T, Zhou D, Engleman K, Racine C, Faivre L, Moutton S, Denommé-Pichon AS, Koh HY, Poduri A, Bolton J, Knopp C, Julia Suh DS, Maier A, Toosi MB, Karimiani EG, Maroofian R, Schaefer GB, Ramakumaran V, Vasudevan P, Prasad C, Osmond M, Schuhmann S, Vasileiou G, Russ-Hall S, Scheffer IE, Carvill GL, Mefford H; Undiagnosed Diseases Network; Bacino CA, Lee BH, Chao HT. Paul MS, et al. Am J Hum Genet. 2024 Jan 4;111(1):96-118. doi: 10.1016/j.ajhg.2023.12.004. Am J Hum Genet. 2024. PMID: 38181735 Free PMC article.
The pathogenesis of gastroschisis.
Feldkamp ML, Carey JC. Feldkamp ML, et al. Birth Defects Res. 2023 Mar 15;115(5):515-516. doi: 10.1002/bdr2.2140. Epub 2022 Dec 21. Birth Defects Res. 2023. PMID: 36541834 No abstract available.
Congenital Chylous Ascites and Ehlers-Danlos Syndrome Type VI.
Ermarth AK, Pohl J, Esty B, Sempler JK, Carey JC, O'Gorman MA. Ermarth AK, et al. Among authors: carey jc. ACG Case Rep J. 2016 Dec 21;3(4):e186. doi: 10.14309/crj.2016.159. eCollection 2016 Aug. ACG Case Rep J. 2016. PMID: 28119937 Free PMC article.
Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced T(H)17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome.
Renner ED, Rylaarsdam S, Anover-Sombke S, Rack AL, Reichenbach J, Carey JC, Zhu Q, Jansson AF, Barboza J, Schimke LF, Leppert MF, Getz MM, Seger RA, Hill HR, Belohradsky BH, Torgerson TR, Ochs HD. Renner ED, et al. Among authors: carey jc. J Allergy Clin Immunol. 2008 Jul;122(1):181-7. doi: 10.1016/j.jaci.2008.04.037. J Allergy Clin Immunol. 2008. PMID: 18602572 Free PMC article.
2,408 results