Zobrazeno 1 - 10
of 43
pro vyhledávání: '"Dervla M Connaughton"'
Autor:
Amelie T van der Ven, Birgit Kobbe, Stefan Kohl, Shirlee Shril, Hans-Martin Pogoda, Thomas Imhof, Hadas Ityel, Asaf Vivante, Jing Chen, Daw-Yang Hwang, Dervla M Connaughton, Nina Mann, Eugen Widmeier, Mary Taglienti, Johanna Magdalena Schmidt, Makiko Nakayama, Prabha Senguttuvan, Selvin Kumar, Velibor Tasic, Elijah O Kehinde, Shrikant M Mane, Richard P Lifton, Neveen Soliman, Weining Lu, Stuart B Bauer, Matthias Hammerschmidt, Raimund Wagener, Friedhelm Hildebrandt
Publikováno v:
PLoS ONE, Vol 13, Iss 1, p e0191224 (2018)
Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common cause (40-50%) of chronic kidney disease (CKD) in children. About 40 monogenic causes of CAKUT have so far been discovered. To date less than 20% of CAKUT cases can be e
Externí odkaz:
https://doaj.org/article/2bc11b7231c74bacbf98e8696e293ebc
Autor:
Clara Schott BMSc, Samantha Colaiacovo MSc, Cadence Baker MSc, Matthew A. Weir MD, MSc, Dervla M. Connaughton MD, PhD, MSc
Publikováno v:
Canadian Journal of Kidney Health and Disease, Vol 11 (2024)
Rationale: Alport Syndrome (AS) is a progressive genetic condition characterized by chronic kidney disease (CKD), hearing loss, and eye abnormalities. It is caused by mutations in the genes COL4A3, COL4A4 , and COL4A5 . Heterozygous mutations in COL4
Externí odkaz:
https://doaj.org/article/903babd0bb9d43da8a0c1a6d1bccc9dd
Autor:
Chen-Han Wilfred Wu, Tze Y. Lim, Chunyan Wang, Steve Seltzsam, Bixia Zheng, Luca Schierbaum, Sophia Schneider, Nina Mann, Dervla M. Connaughton, Makiko Nakayama, Amelie T. van der Ven, Rufeng Dai, Caroline M. Kolvenbach, Franziska Kause, Isabel Ottlewski, Natasa Stajic, Neveen A. Soliman, Jameela A. Kari, Sherif El Desoky, Hanan M. Fathy, Danko Milosevic, Daniel Turudic, Muna Al Saffar, Hazem S. Awad, Loai A. Eid, Aravind Ramanathan, Prabha Senguttuvan, Shrikant M. Mane, Richard S. Lee, Stuart B. Bauer, Weining Lu, Alina C. Hilger, Velibor Tasic, Shirlee Shril, Simone Sanna-Cherchi, Friedhelm Hildebrandt
Publikováno v:
European Urology Open Science, Vol 44, Iss , Pp 106-112 (2022)
Background: Congenital anomalies of the kidneys and urinary tract (CAKUT) are the most common cause of chronic kidney disease among children and adults younger than 30 yr. In our previous study, whole-exome sequencing (WES) identified a known monogen
Externí odkaz:
https://doaj.org/article/3efb0bd1ab7841249ffc6b6938766552
Publikováno v:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 190:325-343
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4eb36e9fee6a24813368807c8aa71739
https://doi.org/10.1002/ajmg.c.32006
https://doi.org/10.1002/ajmg.c.32006
Autor:
Sophia Schneider, Luca Schierbaum, Wessel A. C. Burger, Steve Seltzsam, Chunyan Wang, Bixia Zheng, Chen‐Han Wilfred Wu, Makiko Nakayama, Dervla M. Connaughton, Nina Mann, Mohamed A. Shalaby, Jameela A. Kari, Sherif ElDesoky, Velibor Tasic, Loai A. Eid, Shirlee Shril, David M. Thal, Friedhelm Hildebrandt
Publikováno v:
American Journal of Medical Genetics Part A.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::79c44c8c809f93aa660e9410e8768f5e
https://doi.org/10.1002/ajmg.a.63241
https://doi.org/10.1002/ajmg.a.63241
Autor:
Chunyan Wang, Steve Seltzsam, Bixia Zheng, Chen‐Han Wilfred Wu, Camille Nicolas‐Frank, Kirollos Yousef, Kit Sing Au, Nina Mann, Dalia Pantel, Sophia Schneider, Luca Schierbaum, Thomas M. Kitzler, Dervla M. Connaughton, Youying Mao, Rufeng Dai, Makiko Nakayama, Jameela A. Kari, Sherif El Desoky, Mohammed Shalaby, Loai A. Eid, Hazem S. Awad, Velibor Tasic, Shrikant M. Mane, Richard P. Lifton, Michelle A. Baum, Shirlee Shril, Carlos R. Estrada, Friedhelm Hildebrandt
Publikováno v:
Am J Med Genet A
BACKGROUND: Spina bifida (SB) is the second most common nonlethal congenital malformation. The existence of monogenic SB mouse models and human monogenic syndromes with SB features indicate that human SB may be caused by monogenic genes. We hypothesi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd15230f58fefe06390714cb145d395d
https://doi.org/10.1002/ajmg.a.62644
https://doi.org/10.1002/ajmg.a.62644
Autor:
Merrill D. Benson, Dervla M. Connaughton, David J. Friedman, David Ginsburg, Friedhelm Hildebrandt, Hannu Jalanko, Helena Kääriäinen, Selina M. Luger, Jennifer J.D. Morrissette, Michal Mrug, Scott Peslak, Martin R. Pollak, Reed E. Pyeritz, Frederic Rahbari Oskoui, Dana V. Rizk, Jacquelyn J. Roth, Takamitsu Saigusa, Farzana Sayani, Jordan A. Shavit, Edward A. Stadtmauer, Kathleen E. Sullivan, Angela C. Weyand
Publikováno v:
Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics ISBN: 9780128125342
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5144c4db52adeed5230d83168608509f
https://doi.org/10.1016/b978-0-12-812534-2.01002-x
https://doi.org/10.1016/b978-0-12-812534-2.01002-x
Autor:
Verena Klämbt, Florian Buerger, Chunyan Wang, Thomas Naert, Karin Richter, Theresa Nauth, Anna-Carina Weiss, Tobias Sieckmann, Ethan Lai, Dervla M. Connaughton, Steve Seltzsam, Nina Mann, Amar J. Majmundar, Chen-Han W. Wu, Ana C. Onuchic-Whitford, Shirlee Shril, Sophia Schneider, Luca Schierbaum, Rufeng Dai, Mir Reza Bekheirnia, Marieke Joosten, Omer Shlomovitz, Asaf Vivante, Ehud Banne, Shrikant Mane, Richard P. Lifton, Karin M. Kirschner, Andreas Kispert, Georg Rosenberger, Klaus-Dieter Fischer, Soeren S. Lienkamp, Mirjam M.P. Zegers, Friedhelm Hildebrandt
Publikováno v:
Journal of the American Society of Nephrology, 34, 2, pp. 273-290
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
Journal of the American Society of Nephrology, 34, 273-290
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
Journal of the American Society of Nephrology, 34, 273-290
Background: About 40 disease genes have been described to date for isolated congenital anomalies of the kidneys and urinary tract (CAKUT), the most common cause of childhood chronic kidney disease. However, these genes account for only 20% of cases.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4439761a65e0ca2ac0685948bb12003
https://repository.ubn.ru.nl/handle/2066/290858
https://repository.ubn.ru.nl/handle/2066/290858
Publikováno v:
Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics ISBN: 9780128125342
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::64802df9fca5ec987cfc948e6f66b199
https://doi.org/10.1016/b978-0-12-812534-2.00002-3
https://doi.org/10.1016/b978-0-12-812534-2.00002-3
Autor:
Peter C. Harris, Sarah Khamis, Liam F. Casserly, Robert Carton, Dervla M. Connaughton, Claire Kennedy, Elhussein A. E. Elhassan, Edmund Gilbert, Katherine A. Benson, Sarah R. Senum, Kevin Yachnin, Sarah Cormican, Gianpiero L. Cavalleri, Susan L. Murray, Eoin T. Conlon, Paul V. O’Hara, Matthew D. Griffin, Shane Conlon, Peter J. Conlon, Sally Ann Lynch, Anne M. Molloy, Lawrence C. Brody
Publikováno v:
Eur J Hum Genet
Polycystic kidney diseases (PKDs) comprise the most common Mendelian forms of renal disease. It is characterised by the development of fluid-filled renal cysts, causing progressive loss of kidney function, culminating in the need for renal replacemen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb683b6c098e5a13b6858922502a488c
https://doi.org/10.1038/s41431-020-00806-5
https://doi.org/10.1038/s41431-020-00806-5