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

708 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract.
Münch J, Engesser M, Schönauer R, Hamm JA, Hartig C, Hantmann E, Akay G, Pehlivan D, Mitani T, Coban Akdemir Z, Tüysüz B, Shirakawa T, Dateki S, Claus LR, van Eerde AM; Genomics England Research Consortium; Smol T, Devisme L, Franquet H, Attié-Bitach T, Wagner T, Bergmann C, Höhn AK, Shril S, Pollack A, Wenger T, Scott AA, Paolucci S, Buchan J, Gabriel GC, Posey JE, Lupski JR, Petit F, McCarthy AA, Pazour GJ, Lo CW, Popp B, Halbritter J. Münch J, et al. Among authors: bergmann c. Kidney Int. 2022 May;101(5):1039-1053. doi: 10.1016/j.kint.2022.01.028. Epub 2022 Feb 26. Kidney Int. 2022. PMID: 35227688 Free PMC article.
Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD).
Bergmann C, Senderek J, Windelen E, Küpper F, Middeldorf I, Schneider F, Dornia C, Rudnik-Schöneborn S, Konrad M, Schmitt CP, Seeman T, Neuhaus TJ, Vester U, Kirfel J, Büttner R, Zerres K; APN (Arbeitsgemeinschaft für Pädiatrische Nephrologie). Bergmann C, et al. Kidney Int. 2005 Mar;67(3):829-48. doi: 10.1111/j.1523-1755.2005.00148.x. Kidney Int. 2005. PMID: 15698423 Free article.
Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease.
Schmidts M, Frank V, Eisenberger T, Al Turki S, Bizet AA, Antony D, Rix S, Decker C, Bachmann N, Bald M, Vinke T, Toenshoff B, Di Donato N, Neuhann T, Hartley JL, Maher ER, Bogdanović R, Peco-Antić A, Mache C, Hurles ME, Joksić I, Guć-Šćekić M, Dobricic J, Brankovic-Magic M, Bolz HJ, Pazour GJ, Beales PL, Scambler PJ, Saunier S, Mitchison HM, Bergmann C. Schmidts M, et al. Among authors: bergmann c. Hum Mutat. 2013 May;34(5):714-24. doi: 10.1002/humu.22294. Hum Mutat. 2013. PMID: 23418020 Free PMC article.
Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome.
Solanki AK, Widmeier E, Arif E, Sharma S, Daga A, Srivastava P, Kwon SH, Hugo H, Nakayama M, Mann N, Majmundar AJ, Tan W, Gee HY, Sadowski CE, Rinat C, Becker-Cohen R, Bergmann C, Rosen S, Somers M, Shril S, Huber TB, Mane S, Hildebrandt F, Nihalani D. Solanki AK, et al. Among authors: bergmann c. Kidney Int. 2019 Oct;96(4):883-889. doi: 10.1016/j.kint.2019.06.016. Epub 2019 Jul 10. Kidney Int. 2019. PMID: 31472902 Free PMC article.
708 results