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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: arnold s. 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.
Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function.
Rehman AU, Najafi M, Kambouris M, Al-Gazali L, Makrythanasis P, Rad A, Maroofian R, Rajab A, Stark Z, Hunter JV, Bakey Z, Tokita MJ, He W, Vetrini F, Petersen A, Santoni FA, Hamamy H, Wu K, Al-Jasmi F, Helmstädter M, Arnold SJ, Xia F, Richmond C, Liu P, Karimiani EG, Karami Madani G, Lunke S, El-Shanti H, Eng CM, Antonarakis SE, Hertecant J, Walkiewicz M, Yang Y, Schmidts M. Rehman AU, et al. Among authors: arnold sj. Hum Mutat. 2019 Mar;40(3):267-280. doi: 10.1002/humu.23694. Epub 2018 Dec 25. Hum Mutat. 2019. PMID: 30520571 Free PMC article.
Spectrum of Genetic Variants in a Cohort of 37 Laterality Defect Cases.
Antony D, Gulec Yilmaz E, Gezdirici A, Slagter L, Bakey Z, Bornaun H, Tanidir IC, Van Dinh T, Brunner HG, Walentek P, Arnold SJ, Backofen R, Schmidts M. Antony D, et al. Front Genet. 2022 Apr 13;13:861236. doi: 10.3389/fgene.2022.861236. eCollection 2022. Front Genet. 2022. PMID: 35547246 Free PMC article.
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: arnold sj. 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.
Creation of an international laboratory network towards global microplastics monitoring harmonisation.
Bakir A, McGoran AR, Silburn B, Russell J, Nel H, Lusher AL, Amos R, Shadrack RS, Arnold SJ, Castillo C, Urbina JF, Barrientos E, Sanchez H, Pillay K, Human L, Swartbooi T, Cordova MR, Sani SY, Wijesinghe TWAW, Amarathunga AAD, Gunasekara J, Somasiri S, Mahatantila K, Liyanage S, Müller M, Hee YY, Onda DF, Jansar KM, Shiraz Z, Amir H, Mayes AG. Bakir A, et al. Among authors: arnold sj. Sci Rep. 2024 Jun 3;14(1):12714. doi: 10.1038/s41598-024-62176-y. Sci Rep. 2024. PMID: 38830923 Free PMC article.
Meniscal Transplant surgery or Optimised Rehabilitation full randomised trial (MeTeOR2): a study protocol.
Arnold S, Spalding T, Parsons H, Beard D, Bradley H, Crisford P, Ellard DR, Ferreira M, Getgood A, Guck J, Haque A, Khan I, Mason J, Milroy B, Myers P, Parker D, Price AJ, Smith A, Smith NA, Smith T, Stewart K, Underwood M, Verdonk P, Metcalfe A. Arnold S, et al. BMJ Open. 2024 Jun 3;14(6):e085125. doi: 10.1136/bmjopen-2024-085125. BMJ Open. 2024. PMID: 38830746 Free PMC article.
Application of Physiologically Based Pharmacokinetic Modeling to Characterize the Effects of Age and Obesity on the Disposition of Levetiracetam in the Pediatric Population.
Maglalang PD, Sinha J, Zimmerman K, McCann S, Edginton A, Hornik CP, Hornik CD, Muller WJ, Al-Uzri A, Meyer M, Chen JY, Anand R, Perrin EM, Gonzalez D; Best Pharmaceuticals for Children Act–Pediatric Trials Network Steering Committee. Maglalang PD, et al. Clin Pharmacokinet. 2024 May 30. doi: 10.1007/s40262-024-01367-2. Online ahead of print. Clin Pharmacokinet. 2024. PMID: 38814425
2,366 results