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

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1995 1
2000 1
2003 3
2005 1
2006 1
2009 2
2010 2
2011 5
2012 7
2013 11
2014 6
2015 5
2016 4
2017 3
2018 11
2019 9
2020 6
2021 7
2022 7
2023 8
2024 3

Text availability

Article attribute

Article type

Publication date

Search Results

90 results

Results by year

Filters applied: . Clear all
Page 1
Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT).
Riedhammer KM, Nguyen TT, Koşukcu C, Calzada-Wack J, Li Y, Assia Batzir N, Saygılı S, Wimmers V, Kim GJ, Chrysanthou M, Bakey Z, Sofrin-Drucker E, Kraiger M, Sanz-Moreno A, Amarie OV, Rathkolb B, Klein-Rodewald T, Garrett L, Hölter SM, Seisenberger C, Haug S, Schlosser P, Marschall S, Wurst W, Fuchs H, Gailus-Durner V, Wuttke M, Hrabe de Angelis M, Ćomić J, Akgün Doğan Ö, Özlük Y, Taşdemir M, Ağbaş A, Canpolat N, Orenstein N, Çalışkan S, Weber RG, Bergmann C, Jeanpierre C, Saunier S, Lim TY, Hildebrandt F, Alhaddad B, Basel-Salmon L, Borovitz Y, Wu K, Antony D, Matschkal J, Schaaf CW, Renders L, Schmaderer C, Rogg M, Schell C, Meitinger T, Heemann U, Köttgen A, Arnold SJ, Ozaltin F, Schmidts M, Hoefele J. Riedhammer KM, et al. Among authors: schmidts m. Kidney Int. 2024 Apr;105(4):844-864. doi: 10.1016/j.kint.2023.11.032. Epub 2023 Dec 26. Kidney Int. 2024. PMID: 38154558 Free PMC article.
Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder.
Maroofian R, Zamani M, Kaiyrzhanov R, Liebmann L, Karimiani EG, Vona B, Huebner AK, Calame DG, Misra VK, Sadeghian S, Azizimalamiri R, Mohammadi MH, Zeighami J, Heydaran S, Toosi MB, Akhondian J, Babaei M, Hashemi N, Schnur RE, Suri M, Setzke J, Wagner M, Brunet T, Grochowski CM, Emrick L, Chung WK, Hellmich UA, Schmidts M, Lupski JR, Galehdari H, Severino M, Houlden H, Hübner CA. Maroofian R, et al. Among authors: schmidts m. Genet Med. 2024 Mar;26(3):101034. doi: 10.1016/j.gim.2023.101034. Epub 2023 Dec 3. Genet Med. 2024. PMID: 38054405 Free article.
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.
Kaiyrzhanov R, Rad A, Lin SJ, Bertoli-Avella A, Kallemeijn WW, Godwin A, Zaki MS, Huang K, Lau T, Petree C, Efthymiou S, Karimiani EG, Hempel M, Normand EA, Rudnik-Schöneborn S, Schatz UA, Baggelaar MP, Ilyas M, Sultan T, Alvi JR, Ganieva M, Fowler B, Aanicai R, Tayfun GA, Al Saman A, Alswaid A, Amiri N, Asilova N, Shotelersuk V, Yeetong P, Azam M, Babaei M, Monajemi GB, Mohammadi P, Samie S, Banu SH, Pinto Basto J, Kortüm F, Bauer M, Bauer P, Beetz C, Garshasbi M, Issa AH, Eyaid W, Ahmed H, Hashemi N, Hassanpour K, Herman I, Ibrohimov S, Abdul-Majeed BA, Imdad M, Isrofilov M, Kaiyal Q, Khan S, Kirmse B, Koster J, Lourenço CM, Mitani T, Moldovan O, Murphy D, Najafi M, Pehlivan D, Rocha ME, Salpietro V, Schmidts M, Shalata A, Mahroum M, Talbeya JK, Taylor RW, Vazquez D, Vetro A, Waterham HR, Zaman M, Schrader TA, Chung WK, Guerrini R, Lupski JR, Gleeson J, Suri M, Jamshidi Y, Bhatia KP, Vona B, Schrader M, Severino M, Guille M, Tate EW, Varshney GK, Houlden H, Maroofian R. Kaiyrzhanov R, et al. Among authors: schmidts m. Brain. 2024 Apr 4;147(4):1436-1456. doi: 10.1093/brain/awad380. Brain. 2024. PMID: 37951597 Free PMC article.
Emerging principles of primary cilia dynamics in controlling tissue organization and function.
Gopalakrishnan J, Feistel K, Friedrich BM, Grapin-Botton A, Jurisch-Yaksi N, Mass E, Mick DU, Müller RU, May-Simera H, Schermer B, Schmidts M, Walentek P, Wachten D. Gopalakrishnan J, et al. Among authors: schmidts m. EMBO J. 2023 Nov 2;42(21):e113891. doi: 10.15252/embj.2023113891. Epub 2023 Sep 25. EMBO J. 2023. PMID: 37743763 Free PMC article. Review.
IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans.
Bakey Z, Cabrera OA, Hoefele J, Antony D, Wu K, Stuck MW, Micha D, Eguether T, Smith AO, van der Wel NN, Wagner M, Strittmatter L, Beales PL, Jonassen JA, Thiffault I, Cadieux-Dion M, Boyes L, Sharif S, Tüysüz B, Dunstheimer D, Niessen HWM, Devine W, Lo CW, Mitchison HM, Schmidts M, Pazour GJ. Bakey Z, et al. Among authors: schmidts m. PLoS Genet. 2023 Jun 14;19(6):e1010796. doi: 10.1371/journal.pgen.1010796. eCollection 2023 Jun. PLoS Genet. 2023. PMID: 37315079 Free PMC article.
Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.
Schlosser P, Scherer N, Grundner-Culemann F, Monteiro-Martins S, Haug S, Steinbrenner I, Uluvar B, Wuttke M, Cheng Y, Ekici AB, Gyimesi G, Karoly ED, Kotsis F, Mielke J, Gomez MF, Yu B, Grams ME, Coresh J, Boerwinkle E, Köttgen M, Kronenberg F, Meiselbach H, Mohney RP, Akilesh S; GCKD Investigators; Schmidts M, Hediger MA, Schultheiss UT, Eckardt KU, Oefner PJ, Sekula P, Li Y, Köttgen A. Schlosser P, et al. Among authors: schmidts m. Nat Genet. 2023 Jun;55(6):995-1008. doi: 10.1038/s41588-023-01409-8. Epub 2023 Jun 5. Nat Genet. 2023. PMID: 37277652 Free PMC article.
Implication of FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT).
Riedhammer KM, Nguyen TT, Koşukcu C, Calzada-Wack J, Li Y, Saygılı S, Wimmers V, Kim GJ, Chrysanthou M, Bakey Z, Kraiger M, Sanz-Moreno A, Amarie OV, Rathkolb B, Klein-Rodewald T, Garrett L, Hölter SM, Seisenberger C, Haug S, Marschall S, Wurst W, Fuchs H, Gailus-Durner V, Wuttke M, de Angelis MH, Ćomić J, Doğan ÖA, Özlük Y, Taşdemir M, Ağbaş A, Canpolat N, Ćalışkan S, Weber R, Bergmann C, Jeanpierre C, Saunier S, Lim TY, Hildebrandt F, Alhaddad B, Wu K, Antony D, Matschkal J, Schaaf C, Renders L, Schmaderer C, Meitinger T, Heemann U, Köttgen A, Arnold S, Ozaltin F, Schmidts M, Hoefele J. Riedhammer KM, et al. Among authors: schmidts m. medRxiv [Preprint]. 2023 Mar 22:2023.03.21.23287206. doi: 10.1101/2023.03.21.23287206. medRxiv. 2023. PMID: 36993625 Free PMC article. Updated. Preprint.
IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans.
Bakey Z, Cabrera OA, Hoefele J, Antony D, Wu K, Stuck MW, Micha D, Eguether T, Smith AO, van der Wel NN, Wagner M, Strittmatter L, Beales PL, Jonassen JA, Thiffault I, Cadieux-Dion M, Boyes L, Sharif S, Tüysüz B, Dunstheimer D, Niessen HWM, Devine W, Lo CW, Mitchison HM, Schmidts M, Pazour GJ. Bakey Z, et al. Among authors: schmidts m. medRxiv [Preprint]. 2023 Feb 26:2023.02.23.23286106. doi: 10.1101/2023.02.23.23286106. medRxiv. 2023. PMID: 36865301 Free PMC article. Updated. Preprint.
90 results