Search Results - "Niermeijer, Martinus F."

Frontotemporal dementia in The Netherlands: patient characteristics and prevalence estimates from a population‐based study by 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.

“…Since 1994, a population‐based study of frontotemporal dementia (FTD) in The Netherlands has aimed to ascertain all patients with FTD, and first prevalence…”
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A novel tau mutation, S320F, causes a tauopathy with inclusions similar to those in Pick's disease by 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.

“…Mutations in the tau gene cause familial frontotemporal dementia and parkinsonism linked to chromosome 17. In this article, we describe a novel missense…”
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Breast Cancer after Prophylactic Bilateral Mastectomy in Women with a BRCA1 or BRCA2 Mutation by 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

“…This investigation strengthens the case for mastectomy in women with a mutation of the BRCA1 or BRCA2 gene. The identification of the…”
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Deletions spanning the neurofibromatosis type 1 gene: Implications for genotype-phenotype correlations in neurofibromatosis type 1? by Cnossen, Marjon H., van der Est, Mieke N., Breuning, Martijn H., van Asperen, Christi J., Breslau-Siderius, Elisabeth J., van der Ploeg, Ans T., de Goede-Bolder, Arja, van den Ouweland, Ans M. W., Halley, Dicky J. J., Niermeijer, Martinus F.

“…Neurofibromatosis type 1 (NF1) is an autosomal‐dominant disorder characterized by abnormalities of tissues predominantly derived from the neural crest…”
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Attitudes and distress levels in women at risk to carry a BRCA1/BRCA2 gene mutation who decline genetic testing by Lodder, Litanja, Frets, Petra G., Trijsburg, R. Willem, Klijn, Jan G.M., Seynaeve, Caroline, Tilanus, Madeleine M.A., Bartels, Carina C.M., Meijers-Heijboer, E Johanna, Verhoog, Leon C., Niermeijer, Martinus F.

“…Genetic testing enables women at risk for hereditary breast and/or ovarian cancer to find out whether they have inherited the gene mutation, and if so, to opt…”
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Similar phenotype characteristics comparing familial and sporadic premature ovarian failure by Janse, Femi, Knauff, Erik A H, Niermeijer, Martinus F, Eijkemans, Marinus J, Laven, Joop S E, Lambalk, Cornelius B, Fauser, Bart C J M, Goverde, Angelique J

“…Premature ovarian failure (POF) is characterized by secondary amenorrhea before the age of 40 years, along with repeated increased follicle-stimulating hormone…”
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Familial frontotemporal dementia with ubiquitin-positive inclusions is linked to chromosome 17q21–22 by Rosso, Sonia M., Kamphorst, Wouter, de Graaf, Bianca, Willemsen, Rob, Ravid, Rivka, Niermeijer, Martinus F., Spillantini, Maria Grazia, Heutink, Peter, van Swieten, John C.

“…Hereditary frontotemporal dementia (FTD) is an autosomal dominant neurodegenerative disorder that is associated with mutations in the tau gene and with the…”
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High Prevalence of Mutations in the Microtubule-Associated Protein Tau in a Population Study of Frontotemporal Dementia in the Netherlands by 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

“…Mutations in microtubule-associated protein tau recently have been identified in familial cases of frontotemporal dementia (FTD). We report the frequency of…”
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Genomic Sequencing in Newborn Screening Programs by Dondorp, Wybo J, de Wert, Guido M. W. R, Niermeijer, Martinus F

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Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations by 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.

“…Mucopolysaccharidosis III D (Sanfilippo disease type D, MPS IIID) is a rare autosomal recessive lysosomal storage disorder previously described in only 20…”
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Preimplantation genetic diagnosis for cancer by Niermeijer, Martinus F, de Wert, Guido, Dondorp, Wybo

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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 prophylactic surgery) by 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

“…Genetic testing enables women at risk for hereditary breast and/or ovarian cancer to find out whether they have inherited the gene mutation (BRCA1/BRCA2), and…”
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LMNA , encoding lamin A/C, is mutated in partial lipodystrophy by Trembath, Richard C, 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

“…The lipodystrophies are a group of disorders characterized by the absence or reduction of subcutaneous adipose tissue. Partial lipodystrophy (PLD; MIM 151660)…”
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Three new families with arterial tortuosity syndrome by 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.

“…Arterial tortuosity syndrome (ATS) is a rare condition with autosomal recessive inheritance characterized by connective tissue abnormalities. The most specific…”
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Autosomal dominant inheritance of left ventricular outflow tract obstruction by 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.

“…Most nonsyndromic congenital heart malformations (CHMs) in humans are multifactorial in origin, although an increasing number of monogenic cases have been…”
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A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6p by 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.

“…We report a three-generation family with nine patients affected by a combination of cardiac abnormalities and left isomerism which, to our knowledge, has not…”
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17β-Hydroxysteroid Dehydrogenase-3 Deficiency: Diagnosis, Phenotypic Variability, Population Genetics, and Worldwide Distribution of Ancient and de Novo Mutations1 by Boehmer, Annemie L. M, Brinkmann, Albert O, Sandkuijl, Lodewijk A, Halley, Dicky J. J, Niermeijer, Martinus F, Andersson, Stefan, de Jong, Frank H, Kayserili, Hülya, de Vroede, Monique A, Otten, Barto J, Rouwé, Catrienus W, Mendonça, Berenice B, Rodrigues, Cidade, Bode, Hans H, de Ruiter, Petra E, Delemarre-van de Waal, Henriette A, Drop, Stenvert L. S

“…17β-Hydroxysteroid dehydrogenase-3 (17βHSD3) deficiency is an autosomal recessive form of male pseudohermaphroditism caused by mutations in the HSD17B3 gene…”
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Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutationsb by 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

“…Mucopolysaccharidosis III D (Sanfilippo disease type D, MPS IIID) is a rare autosomal recessive lysosomal storage disorder previously described in only 20…”
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Complex compulsive behaviour in the temporal variant of frontotemporal dementia by 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

“…As metabolic and structural changes in frontotemporal-subcortical pathways have been reported in patients with obsessive-compulsive disorders, we investigated…”
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Presentation of amyloidosis in carriers of the codon 692 mutation in the amyloid precursor protein gene (APP692) by 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.

“…Several mutations in the amyloid precursor protein (APP) gene may lead to either Alzheimer's disease or cerebral haemorrhage due to congophilic amyloid…”
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