Perspectives of Patients and Clinicians on Reproductive Health Care and ADPKD

Autor: Gosselink, Margriet E., Mooren, Robin, Snoek, Rozemarijn, Crombag, Neeltje M.T.H., Vos, Paul, Keijzer-Veen, Mandy G., van Eerde, Albertien M., Lely, A. Titia

Publikováno v: In Kidney International Reports November 2024 9(11):3190-3203

Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions

Autor: Ariceta, Gema, Benetti, Elisa, Benz, Marcus R., Bjerre, Anna, Boudailliez, Bernard R., Bouts, Antonia, Drube, Jens, Gjerstad, Ann Christin, Jankauskiene, Augustina, Jávorszky, Eszter, Jay, Nadine, Kirschstein, Martin, Varda, Nataša Marčun, Niel, Olivier, Nobili, François, Pietrement, Christine, Ruzgiene, Dovile, Schild, Raphael, Staude, Hagen, Tory, Kálmán, Tsimaratos, Michel, Walden, Ulrike, Zappel, Hildegard, Buffin-Meyer, Bénédicte, Richard, Juliette, Guigonis, Vincent, Weber, Stefanie, König, Jens, Heidet, Laurence, Moussaoui, Nabila, Vu, Jeanne-Pierrette, Faguer, Stanislas, Casemayou, Audrey, Prakash, Richa, Baudouin, Véronique, Hogan, Julien, Alexandrou, Demi, Bockenhauer, Detlef, Bacchetta, Justine, Ranchin, Bruno, Pruhova, Stepanka, Zieg, Jakub, Lahoche, Annie, Okorn, Christine, Antal-Kónya, Violetta, Morin, Denis, Becherucci, Francesca, Habbig, Sandra, Liebau, Max C., Mauras, Mathilde, Nijenhuis, Tom, Llanas, Brigitte, Mekahli, Djalila, Thumfart, Julia, Tönshoff, Burkhard, Massella, Laura, Eckart, Philippe, Cloarec, Sylvie, Cruz, Alejandro, Patzer, Ludwig, Roussey, Gwenaelle, Vrillon, Isabelle, Dunand, Olivier, Bessenay, Lucie, Taroni, Francesca, Zaniew, Marcin, Louillet, Ferielle, Bergmann, Carsten, Schaefer, Franz, van Eerde, Albertien M., Schanstra, Joost P., Decramer, Stéphane

Publikováno v: In Kidney International Reports August 2024 9(8):2514-2526

GeNepher data- and biobank for patients with (suspected) genetic kidney disease: Rationale, design and status update

Autor: Claus, Laura R., Lekkerkerker, Iris, van der Zwaag, Bert, Nguyen, Tri Q., Knoers, Nine V.A.M., de Borst, Martin H., Rookmaker, Maarten B., Lilien, Marc R., van Eerde, Albertien M.

Publikováno v: In Rare 2024 2

Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease

Autor: Ambrose, John C., Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boardman-Pretty, Freya, Boustred, Christopher R., Brittain, Helen, Caulfield, Mark J., Chan, Georgia C., Elgar, Greg, Fowler, Tom, Giess, Adam, Hamblin, Angela, Henderson, Shirley, Hubbard, Tim J.P., Jackson, Rob, Jones, Louise J., Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Leigh, Sarah E.A., Leong, Ivonne U.S., Lopez, Javier F., Maleady-Crowe, Fiona, McEntagart, Meriel, Minneci, Federico, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C., O’Donovan, Peter, Odhams, Chris A., Patch, Christine, Pereira, Mariana Buongermino, Perez-Gil, Daniel, Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Rogers, Tim, Savage, Kevin, Sawant, Kushmita, Scott, Richard H., Siddiq, Afshan, Sieghart, Alexander, Smith, Samuel C., Sosinsky, Alona, Stuckey, Alexander, Tanguy, Mélanie, Taylor Tavares, Ana Lisa, Thomas, Ellen R.A., Thompson, Simon R., Tucci, Arianna, Welland, Matthew J., Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M., Claus, Laura R., Chen, Chuan, Stallworth, Jennifer, Turner, Joshua L., Slaats, Gisela G., Hawks, Alexandra L., Mabillard, Holly, Senum, Sarah R., Srikanth, Sujata, Flanagan-Steet, Heather, Louie, Raymond J., Silver, Josh, Lerner-Ellis, Jordan, Morel, Chantal, Mighton, Chloe, Sleutels, Frank, van Slegtenhorst, Marjon, van Ham, Tjakko, Brooks, Alice S., Dorresteijn, Eiske M., Barakat, Tahsin Stefan, Dahan, Karin, Demoulin, Nathalie, Goffin, Eric Jean, Olinger, Eric, Larsen, Martin, Hertz, Jens Michael, Lilien, Marc R., Obeidová, Lena, Seeman, Tomas, Stone, Hillarey K., Kerecuk, Larissa, Gurgu, Mihai, Yousef Yengej, Fjodor A., Ammerlaan, Carola M.E., Rookmaaker, Maarten B., Hanna, Christian, Rogers, R. Curtis, Duran, Karen, Peters, Edith, Sayer, John A., van Haaften, Gijs, Harris, Peter C., Ling, Kun, Mason, Jennifer M., van Eerde, Albertien M., Steet, Richard

Publikováno v: In Kidney International November 2023 104(5):995-1007

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