Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Michaela Geßner"'
Autor:
Kathrin Burgmaier, Samuel Kilian, Klaus Arbeiter, Bahriye Atmis, Anja Büscher, Ute Derichs, Ismail Dursun, Ali Duzova, Loai Akram Eid, Matthias Galiano, Michaela Gessner, Ibrahim Gokce, Karsten Haeffner, Nakysa Hooman, Augustina Jankauskiene, Friederike Körber, Germana Longo, Laura Massella, Djalila Mekahli, Gordana Miloševski-Lomić, Hulya Nalcacioglu, Rina Rus, Rukshana Shroff, Stella Stabouli, Lutz T. Weber, Simone Wygoda, Alev Yilmaz, Katarzyna Zachwieja, Ilona Zagozdzon, Jörg Dötsch, Franz Schaefer, Max Christoph Liebau, The ARegPKD Consortium
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-10 (2021)
Abstract Autosomal recessive polycystic kidney disease (ARPKD) is characterized by bilateral fibrocystic changes resulting in pronounced kidney enlargement. Impairment of kidney function is highly variable and widely available prognostic markers are
Externí odkaz:
https://doaj.org/article/6626eaeb179242108171c93a0a824388
Autor:
Michaela Stippel, Korbinian M. Riedhammer, Bärbel Lange-Sperandio, Michaela Geßner, Matthias C. Braunisch, Roman Günthner, Martin Bald, Miriam Schmidts, Peter Strotmann, Velibor Tasic, Christoph Schmaderer, Lutz Renders, Uwe Heemann, Julia Hoefele
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Background: Chronic kidney disease (CKD) in childhood and adolescence occurs with a median incidence of 9 per million of the age-related population. Over 70% of CKD cases under the age of 25 years can be attributed to a hereditary kidney disease. Amo
Externí odkaz:
https://doaj.org/article/b6e75bda1f1e4bf1991437faac47263c
Publikováno v:
PLoS ONE, Vol 8, Iss 8, p e70617 (2013)
To investigate potential differences in stone composition with regard to the type of Primary Hyperoxaluria (PH), and in relation to the patient's medical therapy (treatment naïve patients versus those on preventive medication) we examined twelve kid
Externí odkaz:
https://doaj.org/article/a64dffb41174411f885f2a702f1d7dab
Autor:
Early Pro-Tect Alport Investigators, Tim Friede, Michaela Gessner, Peter F. Hoyer, Henry Fehrenbach, Rasmus Ehren, Jutta Gellermann, Ulrike John, M Pohl, Baerbel Lange-Sperandio, Matthias Galiano, Carsten Bergmann, Bernd Hoppe, Lars Pape, Burkhard Tönshoff, Oliver Gross, Hagen Staude, Matthias Kettwig, Julia Hoefele, Kay Latta, Martin Konrad, Jan Boeckhaus, Korbinian M. Riedhammer
Publikováno v:
Clinical Genetics. 99:143-156
Early initiation of therapy in patients with Alport syndrome (AS) slows down renal failure by many years. Genotype–phenotype correlations propose that the location and character of the individual's variant correlate with the renal outcome and any e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0f8df17b9fb11713c8d221d6de343d4
https://doi.org/10.1111/cge.13861
https://doi.org/10.1111/cge.13861
Autor:
Ramona Ajiri, Kathrin Burgmaier, Nurver Akinci, Ilse Broekaert, Anja Büscher, Ismail Dursun, Ali Duzova, Loai Akram Eid, Marc Fila, Michaela Gessner, Ibrahim Gokce, Laura Massella, Antonio Mastrangelo, Monika Miklaszewska, Larisa Prikhodina, Bruno Ranchin, Nadejda Ranguelov, Rina Rus, Lale Sever, Julia Thumfart, Lutz Thorsten Weber, Elke Wühl, Alev Yilmaz, Jörg Dötsch, Franz Schaefer, Max Christoph Liebau
Publikováno v:
Kidney international reports, Vol. 7, no.7, p. 1643-1652 (2022)
© 2022 International Society of NephrologyIntroduction: Autosomal recessive polycystic kidney disease (ARPKD) is a rare monogenic disorder characterized by early onset fibrocystic hepatorenal changes. Previous reports have documented pronounced phen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2aca8650535d01293c04d3b9def3d8b4
https://www.ncbi.nlm.nih.gov/pubmed/35812281
https://www.ncbi.nlm.nih.gov/pubmed/35812281
Autor:
Maria B. Christensen, Amanda M. Levy, Nazanin A. Mohammadi, Marcello Niceta, Rauan Kaiyrzhanov, Maria Lisa Dentici, Chadi Al Alam, Viola Alesi, Valérie Benoit, Kailash P. Bhatia, Tatjana Bierhals, Christian M. Boßelmann, Julien Buratti, Bert Callewaert, Berten Ceulemans, Perrine Charles, Matthias De Wachter, Mohammadreza Dehghani, Erika D'haenens, Martine Doco‐Fenzy, Michaela Geßner, Cyrielle Gobert, Ulviyya Guliyeva, Tobias B. Haack, Trine B. Hammer, Tilman Heinrich, Maja Hempel, Theresia Herget, Ute Hoffmann, Judit Horvath, Henry Houlden, Boris Keren, Christina Kresge, Candy Kumps, Damien Lederer, Alban Lermine, Francesca Magrinelli, Reza Maroofian, Mohammad Yahya Vahidi Mehrjardi, Mahdiyeh Moudi, Amelie J. Müller, Anna J. Oostra, Beth A. Pletcher, David Ros‐Pardo, Shanika Samarasekera, Marco Tartaglia, Kristof Van Schil, Julie Vogt, Evangeline Wassmer, Juliane Winkelmann, Maha S. Zaki, Michael Zech, Holger Lerche, Francesca Clementina Radio, Paulino Gomez‐Puertas, Rikke S. Møller, Zeynep Tümer
Publikováno v:
Clinical genetics
CLINICAL GENETICS
Christensen, M B, Levy, A M, Mohammadi, N A, Niceta, M, Kaiyrzhanov, R, Dentici, M L, Al Alam, C, Alesi, V, Benoit, V, Bhatia, K P, Bierhals, T, Boßelmann, C M, Buratti, J, Callewaert, B, Ceulemans, B, Charles, P, De Wachter, M, Dehghani, M, D'haenens, E, Doco-Fenzy, M, Geßner, M, Gobert, C, Guliyeva, U, Haack, T B, Hammer, T B, Heinrich, T, Hempel, M, Herget, T, Hoffmann, U, Horvath, J, Houlden, H, Keren, B, Kresge, C, Kumps, C, Lederer, D, Lermine, A, Magrinelli, F, Maroofian, R, Vahidi Mehrjardi, M Y, Moudi, M, Müller, A J, Oostra, A J, Pletcher, B A, Ros-Pardo, D, Samarasekera, S, Tartaglia, M, Van Schil, K, Vogt, J, Wassmer, E, Winkelmann, J, Zaki, M S, Zech, M, Lerche, H, Radio, F C, Gomez-Puertas, P, Møller, R S & Tümer, Z 2022, ' Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder ', Clinical Genetics, vol. 102, no. 2, pp. 98-109 . https://doi.org/10.1111/cge.14165
CLINICAL GENETICS
Christensen, M B, Levy, A M, Mohammadi, N A, Niceta, M, Kaiyrzhanov, R, Dentici, M L, Al Alam, C, Alesi, V, Benoit, V, Bhatia, K P, Bierhals, T, Boßelmann, C M, Buratti, J, Callewaert, B, Ceulemans, B, Charles, P, De Wachter, M, Dehghani, M, D'haenens, E, Doco-Fenzy, M, Geßner, M, Gobert, C, Guliyeva, U, Haack, T B, Hammer, T B, Heinrich, T, Hempel, M, Herget, T, Hoffmann, U, Horvath, J, Houlden, H, Keren, B, Kresge, C, Kumps, C, Lederer, D, Lermine, A, Magrinelli, F, Maroofian, R, Vahidi Mehrjardi, M Y, Moudi, M, Müller, A J, Oostra, A J, Pletcher, B A, Ros-Pardo, D, Samarasekera, S, Tartaglia, M, Van Schil, K, Vogt, J, Wassmer, E, Winkelmann, J, Zaki, M S, Zech, M, Lerche, H, Radio, F C, Gomez-Puertas, P, Møller, R S & Tümer, Z 2022, ' Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder ', Clinical Genetics, vol. 102, no. 2, pp. 98-109 . https://doi.org/10.1111/cge.14165
Biallelic variants of the gene encoding for the zinc-finger protein 142 (ZNF142) have recently been associated with intellectual disability (ID), speech impairment, seizures, and movement disorders in nine individuals from five families. In this stud
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b95d713d1109bb0b4e3b02c70735ab1
https://hdl.handle.net/10067/1891320151162165141
https://hdl.handle.net/10067/1891320151162165141
Autor:
Alper Soylu, Elke Wühl, Max C. Liebau, Guillaume Dorval, Wanja Bernhardt, Rukshana Shroff, Salim Caliskan, Laura Massella, Gordana Miloševski-Lomić, Ludwig Patzer, Juan David Gonzalez Rodriguez, Klaus Zerres, Katarzyna Taranta-Janusz, Francisco de la Cerda Ojeda, Bahriye Atmis, Bodo B. Beck, Jens König, Nadejda Ranguelov, Claudia Kowalewska, Jörg Dötsch, Florian Erger, Augustina Jankauskiene, Alberto Caldas Afonso, Markus Feldkoetter, Svetlana Papizh, Olivia Boyer, Jérôme Harambat, Franziska Grundmann, Matthias Galiano, Jun Oh, Claire Dossier, Jacques Lombet, Dieter Haffner, Gema Ariceta, Raphael Schild, Ismail Dursun, Ibrahim Gökce, Stella Stabouli, Marcus R. Benz, Rina Rus, Martin Bald, Michaela Gessner, Mieczysław Litwin, Neveen A. Soliman, Djalila Mekahli, Francesco Emma, Nurver Akinci, Loai A. Eid, Cengiz Candan, Alev Yilmaz, Anja Buescher, Lale Sever, Barbara Uetz, Julia Thumfart, Donald Wurm, Beata Bienias, Nadina Ortiz-Bruechle, Ali Duzova, Germana Longo, Przemysław Sikora, Oliver Gross, Susanne Schaefer, Yılmaz Tabel, Sabine Ponsel, Karsten Häffner, Franz Schaefer, Antonio Mastrangelo, Ana Teixeira, Bruno Ranchin, Günter Klaus, Maria Szczepańska, Claudia Dafinger, Andreea Rachisan, Monika Miklaszewska, Aurélie De Mul, Hulya Nalcacioglu, Sevgi Mir, Denis Morin, Katarzyna Zachwieja, Bärbel Lange-Sperandio, William Morello, Marc Fila, Jan Halbritter, Houweyda Jilani, Ute Derichs, Aurelia Morawiec-Knysak, Laure Collard, Małgorzata Stańczyk, Felix Lechner, Francesca Mencarelli, Jakub Zieg, Oliver Dunand, Klaus Arbeiter, Kathrin Burgmaier, Carsten Bergmann, Ilona Zagozdzon, Tomáš Seeman, Larisa Prikhodina, Nakysa Hooman, Lutz T. Weber, Björn Buchholz, Leonie Brinker, Nathalie Godefroid, Simone Wygoda, Hagen Staude
Publikováno v:
Kidney international, Vol. 100, no.3, p. 650-659 (2021)
Autosomal recessive polycystic kidney disease (ARPKD) is a severe disease of early childhood that is clinically characterized by fibrocystic changes of the kidneys and the liver. The main cause of ARPKD are variants in the PKHD1 gene encoding the lar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a8d4bc309906dd46993a944c7188b5c
https://hdl.handle.net/20.500.12831/6664
https://hdl.handle.net/20.500.12831/6664
Publikováno v:
Hamburger Hämophilie Symposion Hamburg, Germany.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f4cc76a05338368e751dec1c25a713ac
https://doi.org/10.1055/s-0040-1721618
https://doi.org/10.1055/s-0040-1721618
Autor:
Hans Bösmüller, Monika Streiter, Tamam Bakchoul, Anne-Marie Lang, Reinhild Klein, Michaela Gessner, Peter Lang, Peter Rosenberger, Peter Ruef, Rupert Handgretinger, Karin Klingel, Constantin Adams, Armin Rabsteyn, Maurice Petrasch, Thomas Eichholz
Publikováno v:
Journal of the Pediatric Infectious Diseases Society
The pediatric inflammatory multisystem syndrome temporally associated with severe acute respiratory syndrome coronavirus 2 infection is a severe complication of coronavirus disease 2019. Since impaired coagulation and thrombosis/endotheliitis are sus
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44fd7f6ab56158664e2e4a69e836a206
Autor:
Henry Fehrenbach, Jens Koenig, Sabine Schmidt, Max C. Liebau, Lisa Loechtermann, Brigitta Kranz, Martin Konrad, Rasmus Ehren, Lars Pape, Kay Latta, M Pohl, Tim Friede, Evelin Muschiol, Frauke Wilkening, Christian Lerch, Mirja Wedekin, Reinhard Hilgers, Jenny Frese, Markus Feldkoetter, Matthias Kettwig, Julia Thumfart, Sabine Ponsel, Peter F. Hoyer, Ulrike John, Jutta Gellermann, Joseph Sonntag, Michaela Gessner, Susanne Klaiber, Katja Sauerstein, Baerbel Lange-Sperandio, Oliver Gross, Britta Hoecker, Therese Jungraithmayr, Anne Kristin Vogt-Weigeldt, Jan Boeckhaus, Carsten Paul Bramlage, Clifford E. Kashtan, Sabine U. König, Ralf Husain, Frauke Weber, Heiko Billing, Ulrike Jacoby, Bernd Hoppe, Gesa Schalk, Burkhard Tönshoff, Michael Koziolek, Hildegard Zappel, Katrin Mueller, Matthias Galiano, Lutz T. Weber, Matthias Hansen, Markus Harden, Tanja Albrecht-Nock, Hagen Staude, Nicole C. Meyer
Publikováno v:
Kidney international. 97(6)
Corrected Proof Children with Alport syndrome develop renal failure early in life. Since the safety and efficacy of preemptive nephroprotective therapy are uncertain we conducted a randomized, placebo-controlled, double-blind trial in 14 German sites
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bcbe1278139a80322d0a4e00cffaf2b
https://pubmed.ncbi.nlm.nih.gov/32299679
https://pubmed.ncbi.nlm.nih.gov/32299679