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Page 1
A missense mutation in Ehd1 associated with defective spermatogenesis and male infertility.
Meindl K, Issler N, Afonso S, Cebrian-Serrano A, Müller K, Sterner C, Othmen H, Tegtmeier I, Witzgall R, Klootwijk E, Davies B, Kleta R, Warth R. Meindl K, et al. Among authors: othmen h. Front Cell Dev Biol. 2023 Oct 12;11:1240558. doi: 10.3389/fcell.2023.1240558. eCollection 2023. Front Cell Dev Biol. 2023. PMID: 37900275 Free PMC article.
A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness.
Issler N, Afonso S, Weissman I, Jordan K, Cebrian-Serrano A, Meindl K, Dahlke E, Tziridis K, Yan G, Robles-López JM, Tabernero L, Patel V, Kesselheim A, Klootwijk ED, Stanescu HC, Dumitriu S, Iancu D, Tekman M, Mozere M, Jaureguiberry G, Outtandy P, Russell C, Forst AL, Sterner C, Heinl ES, Othmen H, Tegtmeier I, Reichold M, Schiessl IM, Limm K, Oefner P, Witzgall R, Fu L, Theilig F, Schilling A, Shuster Biton E, Kalfon L, Fedida A, Arnon-Sheleg E, Ben Izhak O, Magen D, Anikster Y, Schulze H, Ziegler C, Lowe M, Davies B, Böckenhauer D, Kleta R, Falik Zaccai TC, Warth R. Issler N, et al. Among authors: othmen h. J Am Soc Nephrol. 2022 Apr;33(4):732-745. doi: 10.1681/ASN.2021101312. Epub 2022 Feb 11. J Am Soc Nephrol. 2022. PMID: 35149593 Free PMC article.
A polycystin-2 protein with modified channel properties leads to an increased diameter of renal tubules and to renal cysts.
Grosch M, Brunner K, Ilyaskin AV, Schober M, Staudner T, Schmied D, Stumpp T, Schmidt KN, Madej MG, Pessoa TD, Othmen H, Kubitza M, Osten L, de Vries U, Mair MM, Somlo S, Moser M, Kunzelmann K, Ziegler C, Haerteis S, Korbmacher C, Witzgall R. Grosch M, et al. Among authors: othmen h. J Cell Sci. 2021 Aug 15;134(16):jcs259013. doi: 10.1242/jcs.259013. Epub 2021 Aug 23. J Cell Sci. 2021. PMID: 34345895 Free PMC article.
CLN7/MFSD8 may be an important factor for SARS-CoV-2 cell entry.
Heinl ES, Lorenz S, Schmidt B, Nasser M Laqtom N, Mazzulli JR, Francelle L, Yu TW, Greenberg B, Storch S, Tegtmeier I, Othmen H, Maurer K, Steinfurth M, Witzgall R, Milenkovic V, Wetzel CH, Reichold M. Heinl ES, et al. Among authors: othmen h. iScience. 2022 Oct 21;25(10):105082. doi: 10.1016/j.isci.2022.105082. Epub 2022 Sep 6. iScience. 2022. PMID: 36093380 Free PMC article.
CDH1 Germline Variants in a Tunisian Cohort with Hereditary Diffuse Gastric Carcinoma.
Ben Aissa-Haj J, Kabbage M, Othmen H, Saulnier P, Kettiti HT, Jaballah-Gabteni A, Ferah A, Medhioub M, Khsiba A, Mahmoudi M, Maaloul A, Ben Nasr S, Chelbi E, Abdelhak S, Boubaker MS, Azzouz MM, Rouleau E. Ben Aissa-Haj J, et al. Among authors: othmen h. Genes (Basel). 2022 Feb 23;13(3):400. doi: 10.3390/genes13030400. Genes (Basel). 2022. PMID: 35327954 Free PMC article.
A Novel Mutation p.A59P in N-Terminal Domain of Methyl-CpG-Binding Protein 2 Confers Phenotypic Variability in 3 Cases of Tunisian Rett Patients: Clinical Evaluations and In Silico Investigations.
Kharrat M, Hsairi I, Fendri-Kriaa N, Kenoun H, Othmen HB, Ben Mahmoud A, Ghorbel R, Abid I, Triki C, Fakhfakh F. Kharrat M, et al. Among authors: othmen hb. J Child Neurol. 2015 Nov;30(13):1715-21. doi: 10.1177/0883073815578529. Epub 2015 Apr 10. J Child Neurol. 2015. PMID: 25862735
[Neurological complications of neurofibromatosis type 1. Moya Moya syndrome].
Hsairi-Guidara I, Fourati H, Kamoun F, Ellouz E, Ayadi I, Ben Othmen H, Mnif Z, Triki C. Hsairi-Guidara I, et al. Among authors: ben othmen h. Arch Pediatr. 2015 Jan;22(1):90-1, 106-8. doi: 10.1016/j.arcped.2014.10.013. Epub 2014 Nov 4. Arch Pediatr. 2015. PMID: 25466783 French. No abstract available.
[Therapeutic compliance in primary open angle glaucoma].
Taktak J, Ajmi Nabli T, Ben Othmen H, Mtiraoui A, Ben Hadj Hamida F. Taktak J, et al. Among authors: ben othmen h. Tunis Med. 2011 Feb;89(2):142-6. Tunis Med. 2011. PMID: 21308621 Free article. French.