Pathogenic gene variants in CCDC39 , CCDC40 , RSPH1 , RSPH9 , HYDIN, and SPEF2 cause defects of sperm flagella composition and male infertility
Aprea, I, Wilken, A, Krallmann, C, Nöthe-Menchen, T, Olbrich, H, Loges, N T, Dougherty, G W, Bracht, D, Brenker, C, Kliesch, S, Strünker, T, Tüttelmann, F, Raidt, J, Omran, H
Published in Frontiers in genetics (17.02.2023)
Published in Frontiers in genetics (17.02.2023)
Get full text
Journal Article
Further evidence for a somatic KRAS mutation in a pilocytic astrocytoma
Janzarik, W G, Kratz, C P, Loges, N T, Olbrich, H, Klein, C, Schäfer, T, Scheurlen, W, Roggendorf, W, Weiller, C, Niemeyer, C, Korinthenberg, R, Pfister, S, Omran, H
Published in Neuropediatrics (01.04.2007)
Published in Neuropediatrics (01.04.2007)
Get more information
Journal Article
Mutations in ACY1, the Gene Encoding Aminoacylase 1, Cause a Novel Inborn Error of Metabolism
Sass, Jörn Oliver, Mohr, Verena, Olbrich, Heike, Engelke, Udo, Horvath, Judit, Fliegauf, Manfred, Loges, Niki Tomas, Schweitzer-Krantz, Susanne, Moebus, Ralf, Weiler, Polly, Kispert, Andreas, Superti-Furga, Andrea, Wevers, Ron A., Omran, Heymut
Published in American journal of human genetics (01.03.2006)
Published in American journal of human genetics (01.03.2006)
Get full text
Journal Article
Gene discovery for motile cilia disorders: mutation spectrum in primary ciliary dyskinesia and discovery of mutations in CCDC151
Onoufriadis, A, Hjeij, R, Watson, CM, Slagle, CE, Klena, NT, Dougherty, GW, Kurkowiak, M, Loges, NT, Diggle, CP, Morante, NF, Gabriel, GC, Lemke, KL, Li, Y, Pennekamp, P, Menchen, T, Marthin, JK, Mans, D, Letteboer, SJ, Werner, C, Burgoyne, T, Westermann, C, Rutman, A, Carr, IM, O'Callaghan, C, Moya, E, Chung, EMK, Sheridan, E, Nielsen, KG, Roepman, R, Burdine, RD, Lo, CW, Omran, H, Mitchison, H
Published in Cilia (London) (13.07.2015)
Published in Cilia (London) (13.07.2015)
Get full text
Journal Article
DNAI2 Mutations Cause Primary Ciliary Dyskinesia with Defects in the Outer Dynein Arm
Loges, Niki Tomas, Olbrich, Heike, Fenske, Lale, Mussaffi, Huda, Horvath, Judit, Fliegauf, Manfred, Kuhl, Heiner, Baktai, Gyorgy, Peterffy, Erzsebet, Chodhari, Rahul, Chung, Eddie M.K., Rutman, Andrew, O'Callaghan, Christopher, Blau, Hannah, Tiszlavicz, Laszlo, Voelkel, Katarzyna, Witt, Michal, Ziętkiewicz, Ewa, Neesen, Juergen, Reinhardt, Richard, Mitchison, Hannah M., Omran, Heymut
Published in American journal of human genetics (01.11.2008)
Published in American journal of human genetics (01.11.2008)
Get full text
Journal Article
Diagnostik der primären ziliären Dyskinesie: Empfehlungen in Zusammenarbeit mit Kartagener-Syndrom und Primäre Ciliäre Dyskinesie e. V
Nüßlein, T., Brinkmann, F., Ahrens, P., Ebsen, M., Jung, A., Kirchberger, W., Kneißl, A., Koerner-Rettberg, C., Linz-Keul, H., Loges, N.T., Theegarten, D., Seithe, H., Sendler, J., Werner, C., Omran, H.
Published in Monatsschrift Kinderheilkunde (01.05.2013)
Published in Monatsschrift Kinderheilkunde (01.05.2013)
Get full text
Journal Article
Axonemal localization of the dynein component DNAH5 is not altered in secondary ciliary dyskinesia
OLBRICH, Heike, HORVATH, Judit, FEKETE, Andrea, LOGES, Niki Tomas, VAN'S GRAVESANDE, Karin Storm, BLUM, Andreas, HÖRMANN, Karl, OMRAN, Heymut
Published in Pediatric research (01.03.2006)
Published in Pediatric research (01.03.2006)
Get full text
Journal Article
Mutations in CCNO and MCIDAS lead to a mucociliary clearance disorder due to reduced generation of multiple motile cilia
Wallmeier, J, Boon, M, Mutairi, D Al, Loges, NT, Ma, L, Chen, C-T, Olbrich, H, Pennekamp, P, Menchen, T, Dougherty, G, Werner, C, Jaspers, M, Griese, M, Horak, E, Körner-Rettberg, C, Schmitt-Grohé, S, Zimmermann, T, Hevroni, A, Abitbul, R, Avital, A, Soferman, R, Amirav, I, Mitchison, H, Jorissen, M, Alkuraya, F, Kintner, C, Omran, H
Published in Molecular and cellular pediatrics (01.07.2015)
Published in Molecular and cellular pediatrics (01.07.2015)
Get full text
Journal Article
The lebercilin-like protein is embedded in a ciliary protein network and is preferentially expressed in motile cilia
Mans, DA, Coene, KLM, Boldt, K, Lamers, IJC, van Reeuwijk, J, Loges, NT, Bolat, E, Franke, L, Hetterschijt, L, Letteboer, SJF, Peters, TA, Omran, H, Cremers, FPM, Ueffing, M, Roepman, R
Published in Cilia (London) (16.11.2012)
Published in Cilia (London) (16.11.2012)
Get full text
Journal Article
Mutations in the dynein assembly factor PF22 (DNAAF3) cause primary ciliary dyskinesia with absent dynein arms
Schmidts, M, Freshour, J, Loges, NT, Dritsoula, A, Antony, D, Hirst, RA, O’Callaghan, C, Blau, H, Olbrich, H, Yagi, T, Mussaffi, H, Chung, EMK, Omran, H, Mitchell, DR, Mitchison, H
Published in Cilia (London) (16.11.2012)
Published in Cilia (London) (16.11.2012)
Get full text
Journal Article
Detection of a KRAS Mutation in a Pilocytic Astrocytoma
Janzarik, WG, Kratz, C, Pfister, S, Loges, NT, Olbrich, H, Klein, C, Scheurlen, W, Niemeyer, C, Weiller, C, Korinthenberg, R, Omran, H
Published in Neuropediatrics (15.03.2007)
Published in Neuropediatrics (15.03.2007)
Get full text
Conference Proceeding
Diagnostik der primären ziliären Dyskinesie: Empfehlungen in Zusammenarbeit mit Kartagener Syndrom und Primäre Ciliäre Dyskinesie e. V
Brinkmann, F., Nüßlein, T., Ahrens, P., Ebsen, M., Jung, A., Kirchberger, W., Kneißl, A., Koerner-Rettberg, C., Linz-Keul, H., Loges, N.T., Theegarten, D., Seithe, H., Sendler, J., Werner, C., Omran, H.
Published in Pneumologe (2014)
Published in Pneumologe (2014)
Get full text
Journal Article