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Is there a dominant-negative effect in individuals with heterozygous disease-causing variants in COL4A3/COL4A4?
Clin Genet. 2024 Apr;105(4):406-414. doi: 10.1111/cge.14471. Epub 2024 Jan 12.
Clin Genet. 2024.
PMID: 38214412
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: comic j.
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.
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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: comic j.
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.
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Exome sequencing in individuals with congenital anomalies of the kidney and urinary tract (CAKUT): a single-center experience.
Riedhammer KM, Ćomić J, Tasic V, Putnik J, Abazi-Emini N, Paripovic A, Stajic N, Meitinger T, Nushi-Stavileci V, Berutti R, Braunisch MC, Hoefele J.
Riedhammer KM, et al. Among authors: comic j.
Eur J Hum Genet. 2023 Jun;31(6):674-680. doi: 10.1038/s41431-023-01331-x. Epub 2023 Mar 16.
Eur J Hum Genet. 2023.
PMID: 36922632
Free PMC article.
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Renal X-inactivation in female individuals with X-linked Alport syndrome primarily determined by age.
Günthner R, Knipping L, Jeruschke S, Satanoskij R, Lorenz-Depiereux B, Hemmer C, Braunisch MC, Riedhammer KM, Ćomić J, Tönshoff B, Tasic V, Abazi-Emini N, Nushi-Stavileci V, Buiting K, Gjorgjievski N, Momirovska A, Patzer L, Kirschstein M, Gross O, Lungu A, Weber S, Renders L, Heemann U, Meitinger T, Büscher AK, Hoefele J.
Günthner R, et al. Among authors: comic j.
Front Med (Lausanne). 2022 Oct 20;9:953643. doi: 10.3389/fmed.2022.953643. eCollection 2022.
Front Med (Lausanne). 2022.
PMID: 36341250
Free PMC article.
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High detection rate for disease-causing variants in a cohort of 30 Iranian pediatric steroid resistant nephrotic syndrome cases.
Najafi M, Riedhammer KM, Rad A, Torbati PN, Berutti R, Schüle I, Schroda S, Meitinger T, Ćomić J, Bojd SS, Baranzehi T, Shojaei A, Azarfar A, Khazaei MR, Köttgen A, Backofen R, Karimiani EG, Hoefele J, Schmidts M.
Najafi M, et al. Among authors: comic j.
Front Pediatr. 2022 Sep 22;10:974840. doi: 10.3389/fped.2022.974840. eCollection 2022.
Front Pediatr. 2022.
PMID: 36245711
Free PMC article.
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The multifaceted phenotypic and genotypic spectrum of type-IV-collagen-related nephropathy-A human genetics department experience.
Ćomić J, Riedhammer KM, Günthner R, Schaaf CW, Richthammer P, Simmendinger H, Kieffer D, Berutti R, Tasic V, Abazi-Emini N, Nushi-Stavileci V, Putnik J, Stajic N, Lungu A, Gross O, Renders L, Heemann U, Braunisch MC, Meitinger T, Hoefele J.
Ćomić J, et al.
Front Med (Lausanne). 2022 Aug 31;9:957733. doi: 10.3389/fmed.2022.957733. eCollection 2022.
Front Med (Lausanne). 2022.
PMID: 36117978
Free PMC article.
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