Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Rozemarijn Snoek"'
Autor:
Christelle Arrondel, Sophia Missoury, Rozemarijn Snoek, Julie Patat, Giulia Menara, Bruno Collinet, Dominique Liger, Dominique Durand, Olivier Gribouval, Olivia Boyer, Laurine Buscara, Gaëlle Martin, Eduardo Machuca, Fabien Nevo, Ewen Lescop, Daniela A. Braun, Anne-Claire Boschat, Sylvia Sanquer, Ida Chiara Guerrera, Patrick Revy, Mélanie Parisot, Cécile Masson, Nathalie Boddaert, Marina Charbit, Stéphane Decramer, Robert Novo, Marie-Alice Macher, Bruno Ranchin, Justine Bacchetta, Audrey Laurent, Sophie Collardeau-Frachon, Albertien M. van Eerde, Friedhelm Hildebrandt, Daniella Magen, Corinne Antignac, Herman van Tilbeurgh, Géraldine Mollet
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-13 (2019)
The biosynthesis of N6-threonylcarbamoylated adenosine 37 in tRNA (t6A) involves the YRDC enzyme and the KEOPS complex. Here, the authors report mutations in YRDC and the KEOPS component GON7 in Galloway-Mowat syndrome and determine the crystal struc
Externí odkaz:
https://doaj.org/article/77cd12b7d5974fda8810f1a228293257
Publikováno v:
American journal of medical genetics. Part C, Seminars in medical geneticsREFERENCES. 190(3)
Genetic kidney disease comprises a diverse group of disorders. These can roughly be divided in the phenotype groups congenital anomalies of the kidney and urinary tract, ciliopathies, glomerulopathies, stone disorders, tubulointerstitial kidney disea
Autor:
Christine E. M. de Die-Smulders, Klaske D. Lichtenbelt, A. Titia Lely, Jos Dreesen, Franka E. van Reekum, Cindy E. Simcox, Theodora C. van Tilborg, Rozemarijn Snoek, Marijn Stokman, Albertien M. van Eerde, Nine V A M Knoers, Aimee D C Paulussen
Publikováno v:
Clin J Am Soc Nephrol
Clinical journal of the American Society of Nephrology, 15(9), 1279-1286. American Society of Nephrology
Clinical Journal of the American Society of Nephrology, 15(9), 1279-1286. AMER SOC NEPHROLOGY
Clinical journal of the American Society of Nephrology, 15(9), 1279-1286. American Society of Nephrology
Clinical Journal of the American Society of Nephrology, 15(9), 1279-1286. AMER SOC NEPHROLOGY
Background and objectives: A genetic cause can be identified for an increasing number of pediatric and adult-onset kidney diseases. Preimplantation genetic testing (formerly known as preimplantation genetic diagnostics) is a reproductive technology t
Autor:
Titia Lely, Margriet Gosselink, Margriet F C de Jong, Renee Vollenberg, Liffert Vogt, Agne Cerkauskaite, Rozemarijn Snoek, Albertien M. van Eerde, Nine V A M Knoers
Publikováno v:
Nephrology Dialysis Transplantation. 36
Background and Aims Chronic kidney disease (CKD) affects approximately 3% of pregnant women. CKD increases the risk of pregnancy complications such as prematurity, low birthweight and pre-eclampsia. Also, kidney function can deteriorate more quickly
Autor:
Rozemarijn Snoek
The work in this thesis makes the case for a genetics-first approach in CKD. Though there is a high prevalence of monogenic kidney disease (MGKD), it is underdiagnosed in daily practice. This while an adequate MGKD diagnosis provides patients with li
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d71c057f7ba577ea5f36241f3d0ec3b9
https://doi.org/10.33540/294
https://doi.org/10.33540/294
Autor:
Maarten B. Rookmaaker, Albertien M. van Eerde, Roel Goldschmeding, Tri Q. Nguyen, Bert van der Zwaag, Richard H. van Jaarsveld, Robert F Ernst, Edith D.J. Peters, Eric Spierings, Arjan D. van Zuilen, Rozemarijn Snoek, Marc R. Lilien, Nine V A M Knoers, Martin G Elferink
Publikováno v:
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association. 37(2)
Background Often only chronic kidney disease (CKD) patients with high likelihood of genetic disease are offered genetic testing. Early genetic testing could obviate the need for kidney biopsies, allowing for adequate prognostication and treatment. To
Autor:
Klaske D. Lichtenbelt, Franka E. van Reekum, Nine V A M Knoers, Albertien M. van Eerde, Christine E. M. de Die-Smulders, Marijn Stokman, Theodora C. van Tilborg, Cindy E. Simcox, Aimee D C Paulussen, Rozemarijn Snoek, Jos C M F Dreessen
Publikováno v:
Nephrology Dialysis Transplantation. 35
Background and Aims Due to the fast-paced developments in human genetics, a genetic cause can now be identified for an increasing number of pediatric and adult-onset kidney diseases. A monogenic kidney disease (MKD) can impact prognostication and the
Autor:
Albertien M. van Eerde, Rieke van der Graaf, Nine V A M Knoers, Franka E. van Reekum, A. Titia Lely, Jildau R Meinderts, Kitty W. M. Bloemenkamp, Rozemarijn Snoek
Publikováno v:
Nephron Clin Pract
Nephron, 144(4), 185-189. KARGER
Nephron, 144(4), 185-189. KARGER
Background:Thanks to the advances in care, pregnancy is now attainable for the majority of young female CKD patients, although it is still a high-risk endeavor. Clinical decision-making in these cases is impacted by a myriad of factors, making (pre)p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d62b7d0d363d581184aef6f706ca7fa3
https://europepmc.org/articles/PMC7212694/
https://europepmc.org/articles/PMC7212694/
Autor:
Zhongyang Zhang, Rozemarijn Snoek, Albertien M. van Eerde, Martin H. de Borst, Ajay K. Israni, Edith D.J. Peters, Pamala A. Jacobson, Peter J. Conlon, Roman Reindl-Schwaighofer, Jessica van Setten, Barbara Murphy, Nine V A M Knoers, Brendan J. Keating, Ke Hao, Ondrej Viklicky, Bert van der Zwaag, Weijia Zhang, Harold Snieder, Caragh P. Stapleton, Roslyn B. Mannon, William S. Oetting, Andreas Heinzl, Rainer Oberbauer, Stephan J. L. Bakker, Arthur J. Matas
Publikováno v:
Journal of the American Society of Nephrology, 29(6), 1772. American Society of Nephrology
Journal of the American Society of Nephrology, 29(6), 1772-1779. AMER SOC NEPHROLOGY
Journal of the American Society of Nephrology, 29(6), 1772-1779. AMER SOC NEPHROLOGY
Background Nephronophthisis (NPH) is the most prevalent genetic cause for ESRD in children. However, little is known about the prevalence of NPH in adult-onset ESRD. Homozygous full gene deletions of the NPHP1 gene encoding nephrocystin-1 are a promi
Autor:
Klaske D. Lichtenbelt, Rozemarijn Snoek, Lourens R. Pistorius, Linda S. de Vries, Marieke E. W. A. Albers, Roel de Heus, Inge Cuppen, Eduard J. H. Mulder, Gwendolyn T. R. Manten, Peter G. J. Nikkels
Publikováno v:
Journal of Maternal-fetal & Neonatal Medicine, 31(16), 2188. Informa Healthcare
Objective: To evaluate the accuracy of prenatal neurosonography in diagnosing underlying causes of fetal ventriculomegaly, posterior fossa anomalies and microcephaly before 24 weeks’ gestational age (GA) and to study the accuracy of prenatal counse