Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing

por Gille, Johan J. P., Floor, Karijn, Kerkhoven, Lianne, Ameziane, Najim, Joenje, Hans, de Winter, Johan P.
Publicado 2012

Direct-to-consumer carrier screening for cystic fibrosis via a hospital website: a 6-year evaluation

por Holtkamp, Kim C. A., Henneman, Lidewij, Gille, Johan J. P., Meijers-Heijboer, Hanne, Cornel, Martina C., Lakeman, Phillis
Publicado 2018

Improving test properties for neonatal cystic fibrosis screening in the Netherlands before the nationwide start by May 1st 2011

por Cornel, Martina C., Gille, Johan J. P., Loeber, J. Gerard, Langen, Annette M. M. Vernooij-van, Dankert-Roelse, Jeannette, Bolhuis, Piet A.
Publicado 2012

New mutations and an updated database for the patched‐1 (PTCH1) gene

por Reinders, Marie G., van Hout, Antonius F., Cosgun, Betûl, Paulussen, Aimée D., Leter, Edward M., Steijlen, Peter M., Mosterd, Klara, van Geel, Michel, Gille, Johan J.
Publicado 2018

Diagnosis of Fanconi Anemia: Mutation Analysis by Next-Generation Sequencing

por Ameziane, Najim, Sie, Daoud, Dentro, Stefan, Ariyurek, Yavuz, Kerkhoven, Lianne, Joenje, Hans, Dorsman, Josephine C., Ylstra, Bauke, Gille, Johan J. P., Sistermans, Erik A., de Winter, Johan P.
Publicado 2012

A strategy for molecular diagnostics of Fanconi anemia in Brazilian patients

por Pilonetto, Daniela V., Pereira, Noemi F., Bonfim, Carmem M. S., Ribeiro, Lisandro L., Bitencourt, Marco A., Kerkhoven, Lianne, Floor, Karijn, Ameziane, Najim, Joenje, Hans, Gille, Johan J. P., Pasquini, Ricardo
Publicado 2017

Are lung cysts in renal cell cancer (RCC) patients an indication for FLCN mutation analysis?

por Johannesma, Paul C., Houweling, Arjan C., Menko, Fred H., van de Beek, I., Reinhard, Rinze, Gille, Johan J. P., van Waesberghe, JanHein T. M., Thunnissen, Erik, Starink, Theo M., Postmus, Pieter E., van Moorselaar, R. Jeroen A.
Publicado 2015

TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension

por Kerstjens-Frederikse, Wilhelmina S, Bongers, Ernie M H F, Roofthooft, Marcus T R, Leter, Edward M, Douwes, J Menno, Van Dijk, Arie, Vonk-Noordegraaf, Anton, Dijk-Bos, Krista K, Hoefsloot, Lies H, Hoendermis, Elke S, Gille, Johan J P, Sikkema-Raddatz, Birgit, Hofstra, Robert M W, Berger, Rolf M F
Publicado 2013

Copy number variation analysis identifies novel CAKUT candidate genes in children with a solitary functioning kidney

por Westland, Rik, Verbitsky, Miguel, Vukojevic, Katarina, Perry, Brittany J., Fasel, David A., Zwijnenburg, Petra J.G., Bökenkamp, Arend, Gille, Johan J.P., Saraga-Babic, Mirna, Ghiggeri, Gian Marco, D’Agati, Vivette D., Schreuder, Michiel F., Gharavi, Ali G., van Wijk, Joanna A.E., Sanna-Cherchi, Simone
Publicado 2015

A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example

por Mohammadi, Leila, Vreeswijk, Maaike P, Oldenburg, Rogier, van den Ouweland, Ans, Oosterwijk, Jan C, van der Hout, Annemarie H, Hoogerbrugge, Nicoline, Ligtenberg, Marjolijn, Ausems, Margreet G, van der Luijt, Rob B, Dommering, Charlotte J, Gille, Johan J, Verhoef, Senno, Hogervorst, Frans B, van Os, Theo A, Gómez García, Encarna, Blok, Marinus J, Wijnen, Juul T, Helmer, Quinta, Devilee, Peter, van Asperen, Christi J, van Houwelingen, Hans C
Publicado 2009

Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease

por Holstege, Henne, Hulsman, Marc, Charbonnier, Camille, Grenier-Boley, Benjamin, Quenez, Olivier, Grozeva, Detelina, van Rooij, Jeroen G. J., Sims, Rebecca, Ahmad, Shahzad, Amin, Najaf, Norsworthy, Penny J., Dols-Icardo, Oriol, Hummerich, Holger, Kawalia, Amit, Amouyel, Philippe, Beecham, Gary W., Berr, Claudine, Bis, Joshua C., Boland, Anne, Bossù, Paola, Bouwman, Femke, Bras, Jose, Campion, Dominique, Cochran, J. Nicholas, Daniele, Antonio, Dartigues, Jean-François, Debette, Stéphanie, Deleuze, Jean-François, Denning, Nicola, DeStefano, Anita L., Farrer, Lindsay A., Fernández, Maria Victoria, Fox, Nick C., Galimberti, Daniela, Genin, Emmanuelle, Gille, Johan J. P., Le Guen, Yann, Guerreiro, Rita, Haines, Jonathan L., Holmes, Clive, Ikram, M. Arfan, Ikram, M. Kamran, Jansen, Iris E., Kraaij, Robert, Lathrop, Marc, Lemstra, Afina W., Lleó, Alberto, Luckcuck, Lauren, Mannens, Marcel M. A. M., Marshall, Rachel, Martin, Eden R., Masullo, Carlo, Mayeux, Richard, Mecocci, Patrizia, Meggy, Alun, Mol, Merel O., Morgan, Kevin, Myers, Richard M., Nacmias, Benedetta, Naj, Adam C., Napolioni, Valerio, Pasquier, Florence, Pastor, Pau, Pericak-Vance, Margaret A., Raybould, Rachel, Redon, Richard, Reinders, Marcel J. T., Richard, Anne-Claire, Riedel-Heller, Steffi G., Rivadeneira, Fernando, Rousseau, Stéphane, Ryan, Natalie S., Saad, Salha, Sanchez-Juan, Pascual, Schellenberg, Gerard D., Scheltens, Philip, Schott, Jonathan M., Seripa, Davide, Seshadri, Sudha, Sie, Daoud, Sistermans, Erik A., Sorbi, Sandro, van Spaendonk, Resie, Spalletta, Gianfranco, Tesi, Niccolo’, Tijms, Betty, Uitterlinden, André G., van der Lee, Sven J., Visser, Pieter Jelle, Wagner, Michael, Wallon, David, Wang, Li-San, Zarea, Aline, Clarimon, Jordi, van Swieten, John C., Greicius, Michael D., Yokoyama, Jennifer S., Cruchaga, Carlos, Hardy, John, Ramirez, Alfredo, Mead, Simon, van der Flier, Wiesje M., van Duijn, Cornelia M., Williams, Julie, Nicolas, Gaël, Bellenguez, Céline, Lambert, Jean-Charles
Publicado 2022