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

30 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndrome.
Liu Y, Banka S, Huang Y, Hardman-Smart J, Pye D, Torrelo A, Beaman GM, Kazanietz MG, Baker MJ, Ferrazzano C, Shi C, Orozco G, Eyre S, van Geel M, Bygum A, Fischer J, Miedzybrodzka Z, Abuzahra F, Rübben A, Cuvertino S, Ellingford JM, Smith MJ, Evans DG, Weppner-Parren LJMT, van Steensel MAM, Chaudhary IH, Mangham DC, Lear JT, Paus R, Frank J, Newman WG, Zhang X. Liu Y, et al. Among authors: beaman gm. Br J Dermatol. 2022 Dec;187(6):948-961. doi: 10.1111/bjd.21842. Epub 2022 Sep 12. Br J Dermatol. 2022. PMID: 35986704
Mutations of SGO2 and CLDN14 collectively cause coincidental Perrault syndrome.
Faridi R, Rehman AU, Morell RJ, Friedman PL, Demain L, Zahra S, Khan AA, Tohlob D, Assir MZ, Beaman G, Khan SN, Newman WG, Riazuddin S, Friedman TB. Faridi R, et al. Clin Genet. 2017 Feb;91(2):328-332. doi: 10.1111/cge.12867. Epub 2016 Nov 16. Clin Genet. 2017. PMID: 27629923 Free PMC article.
Clinical and genetic heterogeneity in Melkersson-Rosenthal Syndrome.
Pei Y, Beaman GM, Mansfield D, Clayton-Smith J, Stewart M, Newman WG. Pei Y, et al. Among authors: beaman gm. Eur J Med Genet. 2019 Jun;62(6):103536. doi: 10.1016/j.ejmg.2018.09.003. Epub 2018 Sep 11. Eur J Med Genet. 2019. PMID: 30217753
Loss-of-function variants in myocardin cause congenital megabladder in humans and mice.
Houweling AC, Beaman GM, Postma AV, Gainous TB, Lichtenbelt KD, Brancati F, Lopes FM, van der Made I, Polstra AM, Robinson ML, Wright KD, Ellingford JM, Jackson AR, Overwater E, Genesio R, Romano S, Camerota L, D'Angelo E, Meijers-Heijboer EJ, Christoffels VM, McHugh KM, Black BL, Newman WG, Woolf AS, Creemers EE. Houweling AC, et al. Among authors: beaman gm. J Clin Invest. 2019 Dec 2;129(12):5374-5380. doi: 10.1172/JCI128545. J Clin Invest. 2019. PMID: 31513549 Free PMC article.
Ligase IV syndrome can present with microcephaly and radial ray anomalies similar to Fanconi anaemia plus fatal kidney malformations.
Madhu R, Beaman GM, Chandler KE, O'Sullivan J, Urquhart JE, Khan N, Martindale E, Briggs TA, Clayton-Smith J, Higgs J, Batra G, Kerr B, Woolf AS, Newman WG. Madhu R, et al. Among authors: beaman gm. Eur J Med Genet. 2020 Sep;63(9):103974. doi: 10.1016/j.ejmg.2020.103974. Epub 2020 Jun 12. Eur J Med Genet. 2020. PMID: 32534991 Free PMC article.
Early B-cell Factor 3-Related Genetic Disease Can Mimic Urofacial Syndrome.
Harkness JR, Beaman GM, Teik KW, Sidhu S, Sayer JA, Cordell HJ, Thomas HB, Wood K, Stuart HM, Woolf AS, Newman WG. Harkness JR, et al. Among authors: beaman gm. Kidney Int Rep. 2020 Jul 14;5(10):1823-1827. doi: 10.1016/j.ekir.2020.07.001. eCollection 2020 Oct. Kidney Int Rep. 2020. PMID: 33102976 Free PMC article. No abstract available.
30 results