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

256 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
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: jabs ew. Nat Commun. 2017 Jul 6;8:16077. doi: 10.1038/ncomms16077. Nat Commun. 2017. PMID: 28681861 Free PMC article.
HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- mice.
Webb BD, Shaaban S, Gaspar H, Cunha LF, Schubert CR, Hao K, Robson CD, Chan WM, Andrews C, MacKinnon S, Oystreck DT, Hunter DG, Iacovelli AJ, Ye X, Camminady A, Engle EC, Jabs EW. Webb BD, et al. Among authors: jabs ew. Am J Hum Genet. 2012 Jul 13;91(1):171-9. doi: 10.1016/j.ajhg.2012.05.018. Epub 2012 Jul 5. Am J Hum Genet. 2012. PMID: 22770981 Free PMC article.
A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3.
Chew S, Balasubramanian R, Chan WM, Kang PB, Andrews C, Webb BD, MacKinnon SE, Oystreck DT, Rankin J, Crawford TO, Geraghty M, Pomeroy SL, Crowley WF Jr, Jabs EW, Hunter DG, Grant PE, Engle EC. Chew S, et al. Among authors: jabs ew. Brain. 2013 Feb;136(Pt 2):522-35. doi: 10.1093/brain/aws345. Epub 2013 Jan 31. Brain. 2013. PMID: 23378218 Free PMC article.
Mirror movements identified in patients with moebius syndrome.
Webb BD, Frempong T, Naidich TP, Gaspar H, Jabs EW, Rucker JC. Webb BD, et al. Among authors: jabs ew. Tremor Other Hyperkinet Mov (N Y). 2014 Jul 22;4:256. doi: 10.7916/D83F4MR8. eCollection 2014. Tremor Other Hyperkinet Mov (N Y). 2014. PMID: 25120946 Free PMC article.
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: jabs ew. 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.
Nonsyndromic craniosynostosis: novel coding variants.
Sewda A, White SR, Erazo M, Hao K, García-Fructuoso G, Fernández-Rodriguez I, Heuzé Y, Richtsmeier JT, Romitti PA, Reva B, Jabs EW, Peter I. Sewda A, et al. Among authors: jabs ew. Pediatr Res. 2019 Mar;85(4):463-468. doi: 10.1038/s41390-019-0274-2. Epub 2019 Jan 14. Pediatr Res. 2019. PMID: 30651579 Free PMC article.
Brain phenotyping in Moebius syndrome and other congenital facial weakness disorders by diffusion MRI morphometry.
Sadeghi N, Hutchinson E, Van Ryzin C, FitzGibbon EJ, Butman JA, Webb BD, Facio F, Brooks BP, Collins FS, Jabs EW, Engle EC, Manoli I, Pierpaoli C; Moebius Syndrome Research Consortium. Sadeghi N, et al. Among authors: jabs ew. Brain Commun. 2020;2(1):fcaa014. doi: 10.1093/braincomms/fcaa014. Epub 2020 Feb 14. Brain Commun. 2020. PMID: 32328577 Free PMC article.
256 results