Frontotemporal dementia in The Netherlands: patient characteristics and prevalence estimates from a population‐based study von Rosso, Sonia M., Kaat, Laura Donker, Baks, Timo, Joosse, Marijke, de Koning, Inge, Pijnenburg, Yolande, de Jong, Daniëlle, Dooijes, Dennis, Kamphorst, Wouter, Ravid, Rivka, Niermeijer, Martinus F., Verheij, Frans, Kremer, H. P., Scheltens, Philip, van Duijn, Cornelia M., Heutink, Peter, van Swieten, John C.

Volltext

Breast Cancer after Prophylactic Bilateral Mastectomy in Women with a BRCA1 or BRCA2 Mutation von Meijers-Heijboer, Hanne, van Geel, Bert, van Putten, Wim L.J, Henzen-Logmans, Sonja C, Seynaeve, Caroline, Menke-Pluymers, Marian B.E, Bartels, Carina C.M, Verhoog, Leon C, van den Ouweland, Ans M.W, Niermeijer, Martinus F, Brekelmans, Cecile T.M, Klijn, Jan G.M

Volltext

Familial frontotemporal dementia with ubiquitin-positive inclusions is linked to chromosome 17q21–22 von Rosso, Sonia M., Kamphorst, Wouter, de Graaf, Bianca, Willemsen, Rob, Ravid, Rivka, Niermeijer, Martinus F., Spillantini, Maria Grazia, Heutink, Peter, van Swieten, John C.

Volltext

Genotype Versus Phenotype in Families with Androgen Insensitivity Syndrome von Boehmer, Annemie L. M., Brüggenwirth, Hennie, van Assendelft, Cissy, Otten, Barto J., Verleun-Mooijman, Marja C. T., Niermeijer, Martinus F., Brunner, Han G., Rouwé, Catrienus W., Waelkens, J. J., Oostdijk, Wilma, Kleijer, Wim J., van der Kwast, Theo H., de Vroede, Monique A., Drop, Stenvert L. S.

Volltext

Genomic Sequencing in Newborn Screening Programs von Dondorp, Wybo J, de Wert, Guido M. W. R, Niermeijer, Martinus F

Volltext

Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations von Valstar, Marlies J., Bertoli-Avella, Aida M., Wessels, Marja W., Ruijter, George J.G., de Graaf, Bianca, Olmer, Renske, Elfferich, Peter, Neijs, Sanne, Kariminejad, Roxana, Suheyl Ezgü, Fatih, Tokatli, Aysegul, Czartoryska, Barbara, Bosschaart, Ad N., van den Bos-Terpstra, Feikje, Puissant, Hugues, Bürger, Friederike, Omran, Heymut, Eckert, D., Filocamo, Mirella, Simeonov, Emil, Willems, Patrick J., Wevers, Ron A., Niermeijer, Martinus F., Halley, Dicky J.J., Poorthuis, Ben J.H.M., van Diggelen, Otto P.

Volltext

Frontotemporal Dementia: Change of Familial Caregiver Burden and Partner Relation in a Dutch Cohort of 63 Patients von Riedijk, Samantha, Duivenvoorden, Hugo, Rosso, Sonia, Van Swieten, John, Niermeijer, Martinus, Tibben, Aad

Volltext

LMNA, encoding lamin A/C, is mutated in partial lipodystrophy von Shackleton, Sue, Lloyd, David J., Jackson, Stephen N.J., Evans, Richard, Niermeijer, Martinus F., Singh, Baldev M., Schmidt, Hartmut, Brabant, Georg, Kumar, Sudesh, Durrington, Paul N., Gregory, Simon, O'Rahilly, Stephen, Trembath, Richard C.

Volltext

A novel tau mutation, S320F, causes a tauopathy with inclusions similar to those in Pick's disease von Rosso, Sonia M., Van Herpen, Esther, Deelen, Wout, Kamphorst, Wouter, Severijnen, Lies-Anne, Willemsen, Rob, Ravid, Rivka, Niermeijer, Martinus F., Dooijes, Dennis, Smith, Michael J., Goedert, Michel, Heutink, Peter, Van Swieten, John C.

Volltext

One year follow-up of women opting for presymptomatic testing for BRCA1 and BRCA2: emotional impact of the test outcome and decisions on risk management (surveillance or prophylact... von LODDER, Litanja N, FRETS, Petra G, BREKELMANS, Cecile T. M, BURGER, Curt W, NIERMEIJER, Martinus F, TRIJSBURG, R. Willem, MEIJERS-HEIJBOER, E. Johanna, KLIJN, Jan G. M, SEYNAEVE, Caroline, VAN GEEL, Albertus N, TILANUS, Madeleine M. A, BARTELS, Carina C. M, VERHOOG, Leon C

Volltext

High Prevalence of Mutations in the Microtubule-Associated Protein Tau in a Population Study of Frontotemporal Dementia in the Netherlands von Rizzu, Patrizia, Van Swieten, John C., Joosse, Marijke, Hasegawa, Masato, Stevens, Martijn, Tibben, Aad, Niermeijer, Martinus F., Hillebrand, Marcel, Ravid, Rivka, Oostra, Ben A., Goedert, Michel, van Duijn, Cornelia M., Heutink, Peter

Volltext

Preimplantation genetic diagnosis for cancer von Niermeijer, Martinus F, de Wert, Guido, Dondorp, Wybo

Volltext

17β-Hydroxysteroid dehydrogenase-3 deficiency: Diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de Novo mutations von BOEHMER, A. L. M, BRINKMANN, A. O, ROUWE, C. W, MENDONCA, B. B, RODRIGUES, C, BODE, H. H, DE RUITER, P. E, DE WAAL, H. A. D.-V, DROP, S. L. S, SANDKUIJL, L. A, HALLEY, D. J. J, NIERMEIJER, M. F, ANDERSSON, S, DE JONG, F. H, KAYSERILI, H, DE VROEDE, M. A, OTTEN, B. J

Volltext

Three new families with arterial tortuosity syndrome von Wessels, Marja W., Catsman-Berrevoets, Coriene E., Mancini, Grazia M.S., Breuning, Martijn H., Hoogeboom, Jeanette J.M., Stroink, Hans, Frohn-Mulder, Ingrid, Coucke, Paul J., Paepe, Anne De, Niermeijer, Martinus F., Willems, Patrick J.

Volltext

Autosomal dominant inheritance of left ventricular outflow tract obstruction von Wessels, Marja W., Berger, Rolf M.F., Frohn-Mulder, Ingrid M.E., Roos-Hesselink, Jolien W., Hoogeboom, Jeanette J.M., Mancini, Grazia S., Bartelings, Margot M., Krijger, Ronald de, Wladimiroff, Jury W., Niermeijer, Martinus F., Grossfeld, Paul, Willems, Patrick J.

Volltext

A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6p von Wessels, Marja W., De Graaf, Bianca M., Cohen-Overbeek, Titia E., Spitaels, Silja E., de Groot-de Laat, Lotte E., Ten Cate, Folkert J., Frohn-Mulder, Ingrid F. M., de Krijger, Ronald, Bartelings, Margot M., Essed, Nienke, Wladimiroff, Jury W., Niermeijer, Martinus F., Heutink, Peter, Oostra, Ben A., Dooijes, Dennis, Bertoli-Avella, Aida M., Willems, Patrick J.

Volltext

Complex compulsive behaviour in the temporal variant of frontotemporal dementia von ROSSO, Sonia M, ROKS, Gerwin, STEVENS, Martijn, DE KONING, Inge, TANGHE, Herve L. J, KAMPHORST, Wouter, RAVID, Rivka, NIERMEIJER, Martinus F, VAN SWIETEN, John C

Volltext

Presentation of amyloidosis in carriers of the codon 692 mutation in the amyloid precursor protein gene (APP692) von Roks, Gerwin, Van Harskamp, Frans, De Koning, Inge, Cruts, Marc, De Jonghe, Chris, Kumar-Singh, Samir, Tibben, Aad, Tanghe, Herve, Niermeijer, Martinus F., Hofman, Albert, Van Swieten, John C., Van Broeckhoven, Christine, Van Duijn, Cornelia M.

Volltext

Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutationsb von Valstar, Marlies J, Bertoli-Avella, Aida M, Wessels, Marja W, Ruijter, George J.G, de Graaf, Bianca, Olmer, Renske, Elfferich, Peter, Neijs, Sanne, Kariminejad, Roxana, Suheyl Ezgü, Fatih, Tokatli, Aysegul, Czartoryska, Barbara, Bosschaart, Ad N, van den Bos-Terpstra, Feikje, Puissant, Hugues, Bürger, Friederike, Omran, Heymut, Eckert, D, Filocamo, Mirella, Simeonov, Emil, Willems, Patrick J, Wevers, Ron A, Niermeijer, Martinus F, Halley, Dicky J.J, Poorthuis, Ben J.H.M, van Diggelen, Otto P

Volltext

Kabuki syndrome: a review study of three hundred patients von Wessels, Marja W, Brooks, Alice S, Hoogeboom, Jeannette, Niermeijer, Martinus F, Willems, Patrick J

Volltext