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

55 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Diverse ancestry whole-genome sequencing association study identifies TBX5 and PTK7 as susceptibility genes for posterior urethral valves.
Chan MMY, Sadeghi-Alavijeh O, Lopes FM, Hilger AC, Stanescu HC, Voinescu CD, Beaman GM, Newman WG, Zaniew M, Weber S, Ho YM, Connolly JO, Wood D, Maj C, Stuckey A, Kousathanas A; Genomics England Research Consortium; Kleta R, Woolf AS, Bockenhauer D, Levine AP, Gale DP. Chan MMY, et al. Among authors: hilger ac. Elife. 2022 Sep 20;11:e74777. doi: 10.7554/eLife.74777. Elife. 2022. PMID: 36124557 Free PMC article.
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: hilger ac. 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.
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: hilger ac. 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.
Genome-Wide Survey for Microdeletions or -Duplications in 155 Patients with Lower Urinary Tract Obstructions (LUTO).
Schierbaum LM, Schneider S, Herms S, Sivalingam S, Fabian J, Reutter H, Weber S, Merz WM, Tkaczyk M, Miklaszewska M, Sikora P, Szmigielska A, Krzemien G, Zachwieja K, Szczepanska M, Taranta-Janusz K, Kroll P, Polok M, Zaniew M, Hilger AC. Schierbaum LM, et al. Among authors: hilger ac. Genes (Basel). 2021 Sep 20;12(9):1449. doi: 10.3390/genes12091449. Genes (Basel). 2021. PMID: 34573432 Free PMC article.
Definition, diagnosis and clinical management of non-obstructive kidney dysplasia: a consensus statement by the ERKNet Working Group on Kidney Malformations.
Kohl S, Avni FE, Boor P, Capone V, Clapp WL, De Palma D, Harris T, Heidet L, Hilger AC, Liapis H, Lilien M, Manzoni G, Montini G, Negrisolo S, Pierrat MJ, Raes A, Reutter H, Schreuder MF, Weber S, Winyard PJD, Woolf AS, Schaefer F, Liebau MC. Kohl S, et al. Among authors: hilger ac. Nephrol Dial Transplant. 2022 Nov 23;37(12):2351-2362. doi: 10.1093/ndt/gfac207. Nephrol Dial Transplant. 2022. PMID: 35772019 Free PMC article.
Genome-wide association study in patients with posterior urethral valves.
van der Zanden LFM, Maj C, Borisov O, van Rooij IALM, Quaedackers JSLT, Steffens M, Schierbaum L, Schneider S, Waffenschmidt L, Kiemeney LALM, de Wall LLL, Heilmann S, Hofmann A, Gehlen J, Schumacher J, Szczepanska M, Taranta-Janusz K, Kroll P, Krzemien G, Szmigielska A, Schreuder MF, Weber S, Zaniew M, Roeleveld N, Reutter H, Feitz WFJ, Hilger AC. van der Zanden LFM, et al. Among authors: hilger ac. Front Pediatr. 2022 Sep 27;10:988374. doi: 10.3389/fped.2022.988374. eCollection 2022. Front Pediatr. 2022. PMID: 36238604 Free PMC article.
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: hilger ac. Commun Biol. 2022 Nov 9;5(1):1203. doi: 10.1038/s42003-022-04092-3. Commun Biol. 2022. PMID: 36352089 Free PMC article.
Modelling human lower urinary tract malformations in zebrafish.
Kolvenbach CM, Dworschak GC, Rieke JM, Woolf AS, Reutter H, Odermatt B, Hilger AC. Kolvenbach CM, et al. Among authors: hilger ac. Mol Cell Pediatr. 2023 Mar 29;10(1):2. doi: 10.1186/s40348-023-00156-4. Mol Cell Pediatr. 2023. PMID: 36977792 Free PMC article. Review.
55 results