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Page 1
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. Among authors: arnold sj. 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 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. medRxiv [Preprint]. 2023 Mar 22:2023.03.21.23287206. doi: 10.1101/2023.03.21.23287206. medRxiv. 2023. Update in: Kidney Int. 2024 Apr;105(4):844-864. doi: 10.1016/j.kint.2023.11.032 PMID: 36993625 Free PMC article. Updated. Preprint.
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.
Anastomotic leak after manual circular stapled left-sided bowel surgery: analysis of technology-, disease-, and patient-related factors.
European Society of Coloproctology (ESCP) Circular Stapled Anastomosis Working Group and 2017 European Society of Coloproctology (ESCP) Collaborating Group. European Society of Coloproctology (ESCP) Circular Stapled Anastomosis Working Group and 2017 European Society of Coloproctology (ESCP) Collaborating Group. BJS Open. 2024 Sep 3;8(5):zrae089. doi: 10.1093/bjsopen/zrae089. BJS Open. 2024. PMID: 39441693 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.
Social Determinants of Health and Redirection of Care for Infants Born Extremely Preterm.
Brumbaugh JE, Bann CM, Bell EF, Travers CP, Vohr BR, McGowan EC, Harmon HM, Carlo WA, Hintz SR, Duncan AF; Eunice Kennedy Shriver National Institute of Child Health and Human Development Neonatal Research Network. Brumbaugh JE, et al. JAMA Pediatr. 2024 May 1;178(5):454-464. doi: 10.1001/jamapediatrics.2024.0125. JAMA Pediatr. 2024. PMID: 38466268
192 results