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64 results

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Page 1
Quantitative phenotyping of Nphs1 knockout mice as a prerequisite for gene replacement studies.
Buerger F, Merz LM, Saida K, Yu S, Salmanullah D, Lemberg K, Mertens ND, Mansour B, Kolvenbach CM, Yousef K, Hölzel S, Braun A, Franken GAC, Goncalves KA, Steinsapir A, Endlich N, Schneider R, Shril S, Hildebrandt F. Buerger F, et al. Among authors: yousef k. Am J Physiol Renal Physiol. 2024 May 1;326(5):F780-F791. doi: 10.1152/ajprenal.00412.2023. Epub 2024 Mar 14. Am J Physiol Renal Physiol. 2024. PMID: 38482553
Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT.
Seltzsam S, Wang C, Zheng B, Mann N, Connaughton DM, Wu CW, Schneider S, Schierbaum L, Kause F, Kolvenbach CM, Nakayama M, Dai R, Ottlewski I, Schneider R, Deutsch K, Buerger F, Klämbt V, Mao Y, Onuchic-Whitford AC, Nicolas-Frank C, Yousef K, Pantel D, Lai EW, Salmanullah D, Majmundar AJ, Bauer SB, Rodig NM, Somers MJG, Traum AZ, Stein DR, Daga A, Baum MA, Daouk GH, Tasic V, Awad HS, Eid LA, El Desoky S, Shalaby M, Kari JA, Fathy HM, Soliman NA, Mane SM, Shril S, Ferguson MA, Hildebrandt F. Seltzsam S, et al. Among authors: yousef k. Genet Med. 2022 Feb;24(2):307-318. doi: 10.1016/j.gim.2021.09.010. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906515 Free PMC article.
Exome sequencing identifies a likely causative variant in 53% of families with ciliopathy-related features on renal ultrasound after excluding NPHP1 deletions.
Deutsch K, Klämbt V, Kitzler TM, Jobst-Schwan T, Schneider R, Buerger F, Seltzsam S, El Desoky S, Kari JA, Hafeez F, Szczepańska M, Eid LA, Awad HS, Al-Saffar M, Soliman NA, Tasic V, Nicolas-Frank C, Yousef K, Schierbaum LM, Schneider S, Halawi A, Elmubarak I, Lemberg K, Shril S, Mane SM, Rodig N, Hildebrandt F. Deutsch K, et al. Among authors: yousef k. Genes Dis. 2023 Sep 15;11(5):101111. doi: 10.1016/j.gendis.2023.101111. eCollection 2024 Sep. Genes Dis. 2023. PMID: 38868576 Free PMC article. No abstract available.
Quantifiable and reproducible phenotypic assessment of a constitutive knockout mouse model for congenital nephrotic syndrome of the Finnish type.
Lemberg K, Mertens ND, Yousef K, Schneider R, Merz LM, Mansour B, Salmanullah D, Kolvenbach CM, Saida K, Yu S, Hölzel S, Steinsapir A, Goncalves KA, Nicolas Frank C, Franken GAC, Shril S, Buerger F, Hildebrandt F. Lemberg K, et al. Among authors: yousef k. Sci Rep. 2024 Jul 10;14(1):15916. doi: 10.1038/s41598-024-64883-y. Sci Rep. 2024. PMID: 38987283 Free PMC article.
Phenotypic quantification of Nphs1-deficient mice.
Schneider R, Mansour B, Kolvenbach CM, Buerger F, Salmanullah D, Lemberg K, Merz LM, Mertens ND, Saida K, Yousef K, Franken GAC, Bao A, Yu S, Hölzel S, Nicolas-Frank C, Steinsapir A, Goncalves KA, Shril S, Hildebrandt F. Schneider R, et al. Among authors: yousef k. J Nephrol. 2024 Jul 14. doi: 10.1007/s40620-024-01987-8. Online ahead of print. J Nephrol. 2024. PMID: 39003671
Correction to: Phenotypic quantification of Nphs1‑deficient mice.
Schneider R, Mansour B, Kolvenbach CM, Buerger F, Salmanullah D, Lemberg K, Merz LM, Mertens ND, Saida K, Yousef K, Franken GAC, Bao A, Yu S, Hölzel S, Nicolas-Frank C, Steinsapir A, Goncalves KA, Shril S, Hildebrandt F. Schneider R, et al. Among authors: yousef k. J Nephrol. 2024 Jul;37(6):1723. doi: 10.1007/s40620-024-02060-0. J Nephrol. 2024. PMID: 39115675 No abstract available.
Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models.
Wang C, Seltzsam S, Zheng B, Wu CW, Nicolas-Frank C, Yousef K, Au KS, Mann N, Pantel D, Schneider S, Schierbaum L, Kitzler TM, Connaughton DM, Mao Y, Dai R, Nakayama M, Kari JA, El Desoky S, Shalaby M, Eid LA, Awad HS, Tasic V, Mane SM, Lifton RP, Baum MA, Shril S, Estrada CR, Hildebrandt F. Wang C, et al. Among authors: yousef k. Am J Med Genet A. 2022 May;188(5):1355-1367. doi: 10.1002/ajmg.a.62644. Epub 2022 Jan 18. Am J Med Genet A. 2022. PMID: 35040250 Free PMC article.
Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5% of 320 families with steroid-resistant nephrotic syndrome.
Schneider R, Shril S, Buerger F, Deutsch K, Yousef K, Frank CN, Onuchic-Whitford AC, Kitzler TM, Mao Y, Klämbt V, Zahoor MY, Lemberg K, Majmundar AJ, Mansour B, Saida K, Seltzsam S, Kolvenbach CM, Merz LM, Mertens ND, Hermle T, Mann N, Pantel D, Halawi AA, Bao A, Schierbaum L, Schneider S, Salmanullah D, Ben-Dov IZ, Sagiv I, Eid LA, Awad HSH, Al Saffar M, Soliman NA, Nabhan MM, Kari JA, El Desoky S, Shalaby MA, Ooda S, Fathy HM, Mane S, Lifton RP, Somers MJG, Hildebrandt F. Schneider R, et al. Among authors: yousef k. Genes Dis. 2024 Mar 28;12(2):101280. doi: 10.1016/j.gendis.2024.101280. eCollection 2025 Mar. Genes Dis. 2024. PMID: 39584075 Free PMC article. No abstract available.
Short-Term Clinical and Technical Outcomes of a Modified Zenker's Peroral Endoscopic Myotomy (Z-POEM) With Mucosal Flap Incision.
Almario JAN, Mehta A, Shrigiriwar A, Fayyaz F, El-Sherbiny M, Essam K, Haggag H, Yousef K, Abdallatef A, Elkholy S, Canakis A, Kim RE, Yang D, Puga-Tejada M, Alcivar Vasquez J, Egas-Izquierdo M, Del Valle R, Cunto D, Baquerizo-Burgos J, Arevalo-Mora M, Robles-Medranda C, Borkowicz A, Kamiński MF, Lajin M, Kedia P, Khashab MA. Almario JAN, et al. Among authors: yousef k. Endoscopy. 2024 Oct 24. doi: 10.1055/a-2451-2869. Online ahead of print. Endoscopy. 2024. PMID: 39447609
64 results