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Page 1
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: schneider s. 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.
Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes.
Kolvenbach CM, van der Ven AT, Kause F, Shril S, Scala M, Connaughton DM, Mann N, Nakayama M, Dai R, Kitzler TM, Schneider R, Schierbaum L, Schneider S, Accogli A, Torella A, Piatelli G, Nigro V, Capra V, Hoppe B, Märzheuser S, Schmiedeke E, Rehm HL, Mane S, Lifton RP, Dworschak GC, Hilger AC, Reutter H, Hildebrandt F. Kolvenbach CM, et al. Among authors: schneider r, schneider s. Am J Med Genet A. 2021 Dec;185(12):3784-3792. doi: 10.1002/ajmg.a.62447. Epub 2021 Aug 2. Am J Med Genet A. 2021. PMID: 34338422 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: schneider s. Genes (Basel). 2021 Sep 20;12(9):1449. doi: 10.3390/genes12091449. Genes (Basel). 2021. PMID: 34573432 Free PMC article.
Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary Tract.
Wu CW, Lim TY, Wang C, Seltzsam S, Zheng B, Schierbaum L, Schneider S, Mann N, Connaughton DM, Nakayama M, van der Ven AT, Dai R, Kolvenbach CM, Kause F, Ottlewski I, Stajic N, Soliman NA, Kari JA, El Desoky S, Fathy HM, Milosevic D, Turudic D, Al Saffar M, Awad HS, Eid LA, Ramanathan A, Senguttuvan P, Mane SM, Lee RS, Bauer SB, Lu W, Hilger AC, Tasic V, Shril S, Sanna-Cherchi S, Hildebrandt F. Wu CW, et al. Among authors: schneider s. Eur Urol Open Sci. 2022 Sep 1;44:106-112. doi: 10.1016/j.euros.2022.08.004. eCollection 2022 Oct. Eur Urol Open Sci. 2022. PMID: 36185583 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: schneider s. Front Pediatr. 2022 Sep 27;10:988374. doi: 10.3389/fped.2022.988374. eCollection 2022. Front Pediatr. 2022. PMID: 36238604 Free PMC article.
Exome Survey and Candidate Gene Re-Sequencing Identifies Novel Exstrophy Candidate Genes and Implicates LZTR1 in Disease Formation.
Köllges R, Stegmann J, Schneider S, Waffenschmidt L, Fazaal J, Breuer K, Hilger AC, Dworschak GC, Mingardo E, Rösch W, Hofmann A, Neissner C, Ebert AK, Stein R, Younsi N, Hirsch-Koch K, Schmiedeke E, Zwink N, Jenetzky E, Thiele H, Ludwig KU, Reutter H. Köllges R, et al. Among authors: schneider s. Biomolecules. 2023 Jul 13;13(7):1117. doi: 10.3390/biom13071117. Biomolecules. 2023. PMID: 37509153 Free PMC article.
PKD1L1 Is Involved in Congenital Chylothorax.
Whitchurch JB, Schneider S, Hilger AC, Köllges R, Stegmann JD, Waffenschmidt L, Dyer L, Thiele H, Dhabhai B, Dakal TC, Müller A, Norris DP, Reutter HM. Whitchurch JB, et al. Among authors: schneider s. Cells. 2024 Jan 12;13(2):149. doi: 10.3390/cells13020149. Cells. 2024. PMID: 38247840 Free PMC article.
A truncating NRIP1 variant in an Arabic family with congenital anomalies of the kidneys and urinary tract.
Zheng B, Wang C, Seltzsam S, Schneider S, Schierbaum L, Wu W, Dai R, Connaughton DM, Nakayama M, Mann N, Bauer SB, Awad HS, Eid LA, Tasic V, Shril S, Hildebrandt F. Zheng B, et al. Among authors: schneider s. Am J Med Genet A. 2022 Jan;188(1):310-313. doi: 10.1002/ajmg.a.62502. Epub 2021 Sep 15. Am J Med Genet A. 2022. PMID: 34525250 Free PMC article.
Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models.
Wang C, Seltzsam S, Zheng B, Wu CW, Nicolas-Frank C, Yousef K, Au KS, Mann N, Pantel D, Schneider S, Schierbaum L, Kitzler TM, Connaughton DM, Mao Y, Dai R, Nakayama M, Kari JA, El Desoky S, Shalaby M, Eid LA, Awad HS, Tasic V, Mane SM, Lifton RP, Baum MA, Shril S, Estrada CR, Hildebrandt F. Wang C, et al. Among authors: schneider s. Am J Med Genet A. 2022 May;188(5):1355-1367. doi: 10.1002/ajmg.a.62644. Epub 2022 Jan 18. Am J Med Genet A. 2022. PMID: 35040250 Free PMC article.
4,754 results