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

33 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 genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy.
Mingardo E, Beaman G, Grote P, Nordenskjöld A, Newman W, Woolf AS, Eckstein M, Hilger AC, Dworschak GC, Rösch W, Ebert AK, Stein R, Brusco A, Di Grazia M, Tamer A, Torres FM, Hernandez JL, Erben P, Maj C, Olmos JM, Riancho JA, Valero C, Hostettler IC, Houlden H, Werring DJ, Schumacher J, Gehlen J, Giel AS, Buerfent BC, Arkani S, Åkesson E, Rotstein E, Ludwig M, Holmdahl G, Giorgio E, Berettini A, Keene D, Cervellione RM, Younsi N, Ortlieb M, Oswald J, Haid B, Promm M, Neissner C, Hirsch K, Stehr M, Schäfer FM, Schmiedeke E, Boemers TM, van Rooij IALM, Feitz WFJ, Marcelis CLM, Lacher M, Nelson J, Ure B, Fortmann C, Gale DP, Chan MMY, Ludwig KU, Nöthen MM, Heilmann S, Zwink N, Jenetzky E, Odermatt B, Knapp M, Reutter H. Mingardo E, et al. Among authors: beaman g. Commun Biol. 2022 Nov 9;5(1):1203. doi: 10.1038/s42003-022-04092-3. Commun Biol. 2022. PMID: 36352089 Free PMC article.
ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development.
Zhang R, Knapp M, Suzuki K, Kajioka D, Schmidt JM, Winkler J, Yilmaz Ö, Pleschka M, Cao J, Kockum CC, Barker G, Holmdahl G, Beaman G, Keene D, Woolf AS, Cervellione RM, Cheng W, Wilkins S, Gearhart JP, Sirchia F, Di Grazia M, Ebert AK, Rösch W, Ellinger J, Jenetzky E, Zwink N, Feitz WF, Marcelis C, Schumacher J, Martinón-Torres F, Hibberd ML, Khor CC, Heilmann-Heimbach S, Barth S, Boyadjiev SA, Brusco A, Ludwig M, Newman W, Nordenskjöld A, Yamada G, Odermatt B, Reutter H. Zhang R, et al. Among authors: beaman g. Sci Rep. 2017 Feb 8;7:42170. doi: 10.1038/srep42170. Sci Rep. 2017. PMID: 28176844 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
Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction.
Kolvenbach CM, Dworschak GC, Frese S, Japp AS, Schuster P, Wenzlitschke N, Yilmaz Ö, Lopes FM, Pryalukhin A, Schierbaum L, van der Zanden LFM, Kause F, Schneider R, Taranta-Janusz K, Szczepańska M, Pawlaczyk K, Newman WG, Beaman GM, Stuart HM, Cervellione RM, Feitz WFJ, van Rooij IALM, Schreuder MF, Steffens M, Weber S, Merz WM, Feldkötter M, Hoppe B, Thiele H, Altmüller J, Berg C, Kristiansen G, Ludwig M, Reutter H, Woolf AS, Hildebrandt F, Grote P, Zaniew M, Odermatt B, Hilger AC. Kolvenbach CM, et al. Among authors: beaman gm. Am J Hum Genet. 2019 May 2;104(5):994-1006. doi: 10.1016/j.ajhg.2019.03.023. Am J Hum Genet. 2019. PMID: 31051115 Free PMC article.
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.
SLC20A1 Is Involved in Urinary Tract and Urorectal Development.
Rieke JM, Zhang R, Braun D, Yilmaz Ö, Japp AS, Lopes FM, Pleschka M, Hilger AC, Schneider S, Newman WG, Beaman GM, Nordenskjöld A, Ebert AK, Promm M, Rösch WH, Stein R, Hirsch K, Schäfer FM, Schmiedeke E, Boemers TM, Lacher M, Kluth D, Gosemann JH, Anderberg M, Barker G, Holmdahl G, Läckgren G, Keene D, Cervellione RM, Giorgio E, Di Grazia M, Feitz WFJ, Marcelis CLM, Van Rooij IALM, Bökenkamp A, Beckers GMA, Keegan CE, Sharma A, Dakal TC, Wittler L, Grote P, Zwink N, Jenetzky E, Brusco A, Thiele H, Ludwig M, Schweizer U, Woolf AS, Odermatt B, Reutter H. Rieke JM, et al. Among authors: beaman gm. Front Cell Dev Biol. 2020 Aug 7;8:567. doi: 10.3389/fcell.2020.00567. eCollection 2020. Front Cell Dev Biol. 2020. PMID: 32850778 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.
33 results