Management of a Giant Omphalocele with Non–Cross-Linked Intact Porcine-Derived Acellular Dermal Matrix (Strattice) Combined with Vacuum Therapy

por Travassos, Daisy Vieira, van Eerde, Albertien M., Kramer, William L.M.
Publicado 2015

Review of genetic testing in kidney disease patients: Diagnostic yield of single nucleotide variants and copy number variations evaluated across and within kidney phenotype groups

por Claus, Laura R., Snoek, Rozemarijn, Knoers, Nine V. A. M., van Eerde, Albertien M.
Publicado 2022

Linkage study of 14 candidate genes and loci in four large Dutch families with vesico-ureteral reflux

por van Eerde, Albertien M., Koeleman, Bobby P. C., van de Kamp, Jiddeke M., de Jong, Tom P. V. M., Wijmenga, Cisca, Giltay, Jacques C.
Publicado 2007

Diagnostic yield of massively parallel sequencing in patients with chronic kidney disease of unknown etiology: rationale and design of a national prospective cohort study

por de Haan, Amber, Eijgelsheim, Mark, Vogt, Liffert, van der Zwaag, Bert, van Eerde, Albertien M, Knoers, Nine V A M, de Borst, Martin H
Publicado 2022

Wnt5a Deficiency Leads to Anomalies in Ureteric Tree Development, Tubular Epithelial Cell Organization and Basement Membrane Integrity Pointing to a Role in Kidney Collecting Duct...

por Pietilä, Ilkka, Prunskaite-Hyyryläinen, Renata, Kaisto, Susanna, Tika, Elisavet, van Eerde, Albertien M., Salo, Antti M., Garma, Leonardo, Miinalainen, Ilkka, Feitz, Wout F., Bongers, Ernie M. H. F., Juffer, André, Knoers, Nine V. A. M., Renkema, Kirsten Y., Myllyharju, Johanna, Vainio, Seppo J.
Publicado 2016

KidneyNetwork: using kidney-derived gene expression data to predict and prioritize novel genes involved in kidney disease

por Boulogne, Floranne, Claus, Laura R., Wiersma, Henry, Oelen, Roy, Schukking, Floor, de Klein, Niek, Li, Shuang, Westra, Harm-Jan, van der Zwaag, Bert, van Reekum, Franka, Sierks, Dana, Schönauer, Ria, Li, Zhigui, Bijlsma, Emilia K., Bos, Willem Jan W., Halbritter, Jan, Knoers, Nine V. A. M., Besse, Whitney, Deelen, Patrick, Franke, Lude, van Eerde, Albertien M.
Publicado 2023

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

por 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.
Publicado 2018

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

por 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
Publicado 2018

An update on the use of tolvaptan for autosomal dominant polycystic kidney disease: consensus statement on behalf of the ERA Working Group on Inherited Kidney Disorders, the Europe...

por Müller, Roman-Ulrich, Messchendorp, A Lianne, Birn, Henrik, Capasso, Giovambattista, Cornec-Le Gall, Emilie, Devuyst, Olivier, van Eerde, Albertien, Guirchoun, Patrick, Harris, Tess, Hoorn, Ewout J, Knoers, Nine V A M, Korst, Uwe, Mekahli, Djalila, Le Meur, Yannick, Nijenhuis, Tom, Ong, Albert C M, Sayer, John A, Schaefer, Franz, Servais, Aude, Tesar, Vladimir, Torra, Roser, Walsh, Stephen B, Gansevoort, Ron T
Publicado 2021

Genes in the Ureteric Budding Pathway: Association Study on Vesico-Ureteral Reflux Patients

por van Eerde, Albertien M., Duran, Karen, van Riel, Els, de Kovel, Carolien G. F., Koeleman, Bobby P. C., Knoers, Nine V. A. M., Renkema, Kirsten Y., van der Horst, Henricus J. R., Bökenkamp, Arend, van Hagen, Johanna M., van den Berg, Leonard H., Wolffenbuttel, Katja P., van den Hoek, Joop, Feitz, Wouter F., de Jong, Tom P. V. M., Giltay, Jacques C., Wijmenga, Cisca
Publicado 2012

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

por 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.
Publicado 2018

Defects in t(6)A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome

por 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
Publicado 2019

Identification of human D lactate dehydrogenase deficiency

por 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.
Publicado 2019

Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria

por Savige, Judy, Storey, Helen, Watson, Elizabeth, Hertz, Jens Michael, Deltas, Constantinos, Renieri, Alessandra, Mari, Francesca, Hilbert, Pascale, Plevova, Pavlina, Byers, Peter, Cerkauskaite, Agne, Gregory, Martin, Cerkauskiene, Rimante, Ljubanovic, Danica Galesic, Becherucci, Francesca, Errichiello, Carmela, Massella, Laura, Aiello, Valeria, Lennon, Rachel, Hopkinson, Louise, Koziell, Ania, Lungu, Adrian, Rothe, Hansjorg Martin, Hoefele, Julia, Zacchia, Miriam, Martic, Tamara Nikuseva, Gupta, Asheeta, van Eerde, Albertien, Gear, Susie, Landini, Samuela, Palazzo, Viviana, al-Rabadi, Laith, Claes, Kathleen, Corveleyn, Anniek, Van Hoof, Evelien, van Geel, Micheel, Williams, Maggie, Ashton, Emma, Belge, Hendica, Ars, Elisabeth, Bierzynska, Agnieszka, Gangemi, Concetta, Lipska-Ziętkiewicz, Beata S.
Publicado 2021