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dr. A.M. van Eerde

Assistant Professor - medical

  • Section Clinical Genetics

dr. A.M. van Eerde

Research Output (67)

Clinical spectrum, prognosis and estimated prevalence of DNAJB11-kidney disease

Huynh Vinh T, Audrézet Marie-Pierre, Sayer John A, Ong Albert C, Lefevre Siriane, Le Brun Valoris, Després Aurore, Senum Sarah R, Chebib Fouad T, Barroso-Gil Miguel, Patel Chirag, Mallett Andrew J, Goel Himanshu, Mallawaarachchi Amali C, Van Eerde Albertien M, Ponlot Eléonore, Kribs Marc, Le Meur Yannick, Harris Peter C, Cornec-Le Gall Emilie, aug 2020, In: Kidney International. 98 , p. 476-487 12 p.

Pregnancy in Advanced Kidney Disease:Clinical Practice Considerations on a Challenging Combination

Snoek Rozemarijn, van der Graaf Rieke, Meinderts Jildau R, van Reekum Franka, Bloemenkamp Kitty W M, Knoers Nine V A M, van Eerde Albertien M, Lely A Titia 2020, In: Nephron. 144 , p. 185-189 5 p.

Defects in t<sup>6</sup>A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome

Arrondel Christelle, Missoury Sophia, Snoek Rozemarijn, Patat Julie, Menara Giulia, Collinet Bruno, Liger Dominique, Durand Dominique, Gribouval Olivier, Boyer Olivia, Buscara Laurine, Martin Gaëlle, Machuca Eduardo, Nevo Fabien, Lescop Ewen, Braun Daniela A., Boschat Anne Claire, Sanquer Sylvia, Guerrera Ida Chiara, Revy Patrick, Parisot Mélanie, Masson Cécile, Boddaert Nathalie, Charbit Marina, Decramer Stéphane, Novo Robert, Macher Marie Alice, Ranchin Bruno, Bacchetta Justine, Laurent Audrey, Collardeau-Frachon Sophie, van Eerde Albertien M., Hildebrandt Friedhelm, Magen Daniella, Antignac Corinne, van Tilbeurgh Herman, Mollet Géraldine 1 dec 2019, In: Nature Communications. 10

Importance of Genetic Diagnostics in Adult-Onset Focal Segmental Glomerulosclerosis

Snoek Rozemarijn, Nguyen Tri Q, van der Zwaag Bert, van Zuilen Arjan D, Kruis Hannah M E, van Gils-Verrij Liesbeth A, Goldschmeding Roel, Knoers Nine V A M, Rookmaaker Maarten B, van Eerde Albertien M 16 mei 2019, In: Nephron. 142 , p. 351-358 8 p.

Identification of human D lactate dehydrogenase deficiency

Monroe Glen R, van Eerde Albertien M, Tessadori Federico, Duran Karen J, Savelberg Sanne M C, van Alfen Johanna C, Terhal Paulien A, van der Crabben Saskia N, Lichtenbelt Klaske D, Fuchs Sabine A, Gerrits Johan, van Roosmalen Markus J, van Gassen Koen L, van Aalderen Mirjam, Koot Bart G, Oostendorp Marlies, Duran Marinus, Visser Gepke, de Koning Tom J, Calì Francesco, Bosco Paolo, Geleijns Karin, de Sain-van der Velden Monique G M, Knoers Nine V, Bakkers Jeroen, Verhoeven-Duif Nanda M, van Haaften Gijs, Jans Judith J 1 apr 2019, In: Nature Communications. 10

De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms

Jansen Sandra, van der Werf Ilse M., Innes A. Micheil, Afenjar Alexandra, Agrawal Pankaj B., Anderson Ilse J., Atwal Paldeep S., van Binsbergen Ellen, van den Boogaard Marie José, Castiglia Lucia, Coban-Akdemir Zeynep H., van Dijck Anke, Doummar Diane, van Eerde Albertien M., van Essen Anthonie J., van Gassen Koen L., Guillen Sacoto Maria J., van Haelst Mieke M., Iossifov Ivan, Jackson Jessica L., Judd Elizabeth, Kaiwar Charu, Keren Boris, Klee Eric W., Klein Wassink-Ruiter Jolien S., Meuwissen Marije E., Monaghan Kristin G., de Munnik Sonja A., Nava Caroline, Ockeloen Charlotte W., Pettinato Rosa, Racher Hilary, Rinne Tuula, Romano Corrado, Sanders Victoria R., Schnur Rhonda E., Smeets Eric J., Stegmann Alexander P.A., Stray-Pedersen Asbjørg, Sweetser David A., Terhal Paulien A., Tveten Kristian, VanNoy Grace E., de Vries Petra F., Waxler Jessica L., Willing Marcia, Pfundt Rolph, Veltman Joris A., Kooy R. Frank, Vissers Lisenka E.L.M., de Vries Bert B.A. 1 jan 2019, In: European Journal of Human Genetics. 27 , p. 738-746 9 p.

SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects

Dubail Johanne, Huber Céline, Chantepie Sandrine, Sonntag Stephan, Tüysüz Beyhan, Mihci Ercan, Gordon Christopher T., Steichen-Gersdorf Elisabeth, Amiel Jeanne, Nur Banu, Stolte-Dijkstra Irene, van Eerde Albertien M., van Gassen Koen L., Breugem Corstiaan C., Stegmann Alexander, Lekszas Caroline, Maroofian Reza, Karimiani Ehsan Ghayoor, Bruneel Arnaud, Seta Nathalie, Munnich Arnold, Papy-Garcia Dulce, De La Dure-Molla Muriel, Cormier-Daire Valérie 1 dec 2018, In: Nature Communications. 9

Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy

Stokman Marijn F., van der Zwaag Bert, van de Kar Nicole C.A.J., van Haelst Mieke M., van Eerde Albertien M., van der Heijden Joost W., Kroes Hester Y., Ippel Elly, Schulp Annelien J.A., van Gassen Koen L., van Rooij Iris A.L.M., Giles Rachel H., Beales Philip L., Roepman Ronald, Arts Heleen H., Bongers Ernie M.H.F., Renkema Kirsten Y., Knoers Nine V.A.M., van Reeuwijk Jeroen, Lilien Marc R. 1 okt 2018, In: Pediatric Nephrology. 33 , p. 1701-1712 12 p.

Outcomes of surgical management of familial intrahepatic cholestasis 1 and bile salt export protein deficiencies

Bull Laura N, Pawlikowska Ludmila, Strautnieks Sandra, Jankowska Irena, Czubkowski Piotr, Dodge Jennifer L, Emerick Karan, Wanty Catherine, Wali Sami, Blanchard Samra, Lacaille Florence, Byrne Jane A, van Eerde Albertien M, Kolho Kaija-Leena, Houwen Roderick, Lobritto Steven, Hupertz Vera, McClean Patricia, Mieli-Vergani Giorgina, Sokal Etienne, Rosenthal Philip, Whitington Peter F, Pawlowska Joanna, Thompson Richard J mei 2018, In: Hepatology communications. 2 , p. 515-528 14 p.

NPHP1 (Nephrocystin-1) gene deletions cause adult-onset ESRD

Snoek Rozemarijn, Van Setten Jessica, Keating Brendan J., Israni Ajay K., Jacobson Pamala A., Oetting William S., Matas Arthur J., Mannon Roslyn B., Zhang Zhongyang, Zhang Weijia, Hao Ke, Murphy Barbara, Reindl-Schwaighofer Roman, Heinzl Andreas, Oberbauer Rainer, Viklicky Ondrej, Conlon Peter J., Stapleton Caragh P., Bakker Stephan J.L., Snieder Harold, Peters Edith D.J., Van Der Zwaag Bert, Knoers Nine V.A.M., De Borst Martin H., Van Eerde Albertien M. 13 apr 2018, In: Journal of the American Society of Nephrology. 29 , p. 1772-1779 8 p.

All Research Output (67)