Search Results - "OOSTRA, B. A."

CGG repeat in the FMR1 gene: size matters by Willemsen, R, Levenga, J, Oostra, BA

“…Willemsen R, Levenga J, Oostra BA. CGG repeat in the FMR1 gene: size matters. The FMR1 gene contains a CGG repeat present in the 5′‐untranslated region which…”
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Meta-analyses of genetic studies on major depressive disorder by López-León, S, Janssens, A C J W, González-Zuloeta Ladd, A M, Del-Favero, J, Claes, S J, Oostra, B A, van Duijn, C M

“…The genetic basis of major depressive disorder (MDD) has been investigated extensively, but the identification of MDD genes has been hampered by conflicting…”
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ACE Polymorphisms by Sayed-Tabatabaei, F A, Oostra, B A, Isaacs, A, van Duijn, C M, Witteman, J C.M

“…—Angiotensin converting enzyme (ACE) plays an essential role in two physiological systems, one leading to the production of angiotensin II and the other to the…”
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Sex-specific genetic effects influence variation in body composition by Zillikens, M. C, Yazdanpanah, M, Pardo, L. M, Rivadeneira, F, Aulchenko, Y. S, Oostra, B. A, Uitterlinden, A. G, Pols, H. A. P, van Duijn, C. M

“…Aims/hypothesis Despite well-known sex differences in body composition it is not known whether sex-specific genetic or environmental effects contribute to…”
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A KATP channel gene effect on sleep duration: from genome-wide association studies to function in Drosophila by Allebrandt, K V, Amin, N, Müller-Myhsok, B, Esko, T, Teder-Laving, M, Azevedo, R V D M, Hayward, C, van Mill, J, Vogelzangs, N, Green, E W, Melville, S A, Lichtner, P, Wichmann, H-E, Oostra, B A, Janssens, A C J W, Campbell, H, Wilson, J F, Hicks, A A, Pramstaller, P P, Dogas, Z, Rudan, I, Merrow, M, Penninx, B, Kyriacou, C P, Metspalu, A, van Duijn, C M, Meitinger, T, Roenneberg, T

“…Humans sleep approximately a third of their lifetime. The observation that individuals with either long or short sleep duration show associations with…”
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Genome-wide analyses of borderline personality features by Lubke, G H, Laurin, C, Amin, N, Hottenga, J J, Willemsen, G, van Grootheest, G, Abdellaoui, A, Karssen, L C, Oostra, B A, van Duijn, C M, Penninx, B W J H, Boomsma, D I

“…The heritability of borderline personality (BP) features has been established in multiple twin and family studies. Using data from the borderline subscale of…”
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Shared genetic factors in migraine and depression: Evidence from a genetic isolate by STAM, A. H, DE VRIES, B, VAN DUIJN, C. M, TERWINDT, G. M, JANSSENS, A. C. J. W, VANMOLKOT, K. R. J, AULCHENKO, Y. S, HENNEMAN, P, OOSTRA, B. A, FRANTS, R. R, VAN DEN MAAGDENBERG, A. M. J. M, FERRARI, M. D

“…To investigate the co-occurrence of migraine and depression and assess whether shared genetic factors may underlie both diseases. Subjects were 2,652…”
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Genetic risk profiles for depression and anxiety in adult and elderly cohorts by Demirkan, A, Penninx, B W J H, Hek, K, Wray, N R, Amin, N, Aulchenko, Y S, van Dyck, R, de Geus, E J C, Hofman, A, Uitterlinden, A G, Hottenga, J-J, Nolen, W A, Oostra, B A, Sullivan, P F, Willemsen, G, Zitman, F G, Tiemeier, H, Janssens, A C J W, Boomsma, D I, van Duijn, C M, Middeldorp, C M

“…The first generation of genome-wide association studies (GWA studies) for psychiatric disorders has led to new insights regarding the genetic architecture of…”
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Early-onset parkinsonism associated with PINK1 mutations : Frequency, genotypes, and phenotypes by BONIFATI, V, ROHE, C. F, FINCATI, E, ABBRUZZESE, G, MARINI, P, DE GAETANO, A, HORSTINK, M. W, MAAT-KIEVIT, J. A, SAMPAIO, C, ANTONINI, A, STOCCHI, F, MONTAGNA, P, BREEDVELD, G. J, TONI, V, GUIDI, M, DALLA LIBERA, A, TINAZZI, M, DE PANDIS, F, FABBRINI, G, GOLDWURM, S, DE KLEIN, A, BARBOSA, E, LOPIANO, L, FABRIZIO, E, MARTIGNONI, E, LAMBERTI, P, VANACORE, N, MECO, G, OOSTRA, B. A, DE MARI, M, TASSORELLI, C, TAVELLA, A, MARCONI, R, NICHOLL, D. J, CHIEN, H. F

“…To assess the prevalence, nature, and associated phenotypes of PINK1 gene mutations in a large series of patients with early-onset (<50 years) parkinsonism…”
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ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease by DI FONZO, A, CHIEN, H. F, MARINI, P, SQUITIERI, F, HORSTINK, M. W, MONTAGNA, P, DALLA LIBERA, A, STOCCHI, F, GOLDWURM, S, FERREIRA, J. J, MECO, G, MARTIGNONI, E, SOCAL, M, LOPIANO, L, JARDIM, L. B, OOSTRA, B. A, BARBOSA, E. R, BONIFATI, V, GIRAUDO, S, TASSORELLI, C, ILICETO, G, FABBRINI, G, MARCONI, R, FINCATI, E, ABBRUZZESE, G

“…To assess the prevalence, nature, and associated phenotypes of ATP13A2 gene mutations among patients with juvenile parkinsonism (onset <21 years) or young…”
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Insulin-resistance and metabolic syndrome are related to executive function in women in a large family-based study by Schuur, M., Henneman, P., van Swieten, J. C., Zillikens, M. C., de Koning, I., Janssens, A. C. J. W., Witteman, J. C. M., Aulchenko, Y. S., Frants, R. R., Oostra, B. A., van Dijk, K. Willems, van Duijn, C. M.

“…While type 2 diabetes is well-known to be associated with poorer cognitive performance, few studies have reported on the association of metabolic syndrome…”
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Prevalence and heritability of the metabolic syndrome and its individual components in a Dutch isolate: the Erasmus Rucphen Family study by Henneman, P, Aulchenko, Y S, Frants, R R, van Dijk, K W, Oostra, B A, van Duijn, C M

“…Metabolic syndrome (MetS) is defined by a combination of abnormalities that are all individual risk factors for the development of type 2 diabetes and/or…”
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The FMR1 gene and fragile X-associated tremor/ataxia syndrome by Brouwer, J.R., Willemsen, R., Oostra, B.A.

“…The CGG‐repeat present in the 5′UTR of the FMR1 gene is unstable upon transmission to the next generation. The repeat is up to 55 CGGs long in the normal…”
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The effect of an mGluR5 inhibitor on procedural memory and avoidance discrimination impairments in Fmr1 KO mice by Vinueza Veloz, M. F., Buijsen, R. A. M., Willemsen, R., Cupido, A., Bosman, L. W. J., Koekkoek, S. K. E., Potters, J. W., Oostra, B. A., De Zeeuw, C. I.

“…Fragile X syndrome (FXS) is the most common inherited form of intellectual disability. Patients with FXS do not only suffer from cognitive problems, but also…”
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A Wide Variety of Mutations in the Parkin Gene Are Responsible for Autosomal Recessive Parkinsonism in Europe by Abbas, Nacer, Lücking, Christoph B., Ricard, Sylvain, Dürr, Alexandra, Bonifati, Vincenzo, De Michele, Giuseppe, Bouley, Sandrine, Vaughan, Jenny R., Gasser, Thomas, Marconi, Roberto, Broussolle, Emmanuel, Brefel-Courbon, Christine, Harhangi, Biswadjiet S., Oostra, Ben A., Fabrizio, Edito, Böhme, Georg A., Pradier, Laurent, Wood, Nick W., Filla, Alessandro, Meco, Giuseppe, Denefle, Patrice, Agid, Yves, Brice, Alexis

“…Autosomal recessive juvenile parkinsonism (AR-JP, PARK2; OMIM 602544), one of the monogenic forms of Parkinson's disease (PD), was initially described in…”
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A Mutation in the Interferon-γ –Receptor Gene and Susceptibility to Mycobacterial Infection by Newport, Melanie J, Huxley, Clare M, Huston, Sara, Hawrylowicz, Catherine M, Oostra, Ben A, Williamson, Robert, Levin, Michael

“…The World Health Organization has estimated that more than 1.7 billion persons are infected with Mycobacterium tuberculosis worldwide. 1 , 2 A puzzling feature…”
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Congenital Diaphragmatic Hernia and Chromosome 15q26: Determination of a Candidate Region by Use of Fluorescent In Situ Hybridization and Array-Based Comparative Genomic Hybridization by Klaassens, M., van Dooren, M., Eussen, H.J., Douben, H., den Dekker, A.T., Lee, C., Donahoe, P.K., Galjaard, R.J., Goemaere, N., de Krijger, R.R., Wouters, C., Wauters, J., Oostra, B.A., Tibboel, D., de Klein, A.

“…Congenital diaphragmatic hernia (CDH) has an incidence of 1 in 3,000 births and a high mortality rate (33%–58%). Multifactorial inheritance, teratogenic…”
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Deletion of FMR1 in Purkinje Cells Enhances Parallel Fiber LTD, Enlarges Spines, and Attenuates Cerebellar Eyelid Conditioning in Fragile X Syndrome by Koekkoek, S.K.E., Yamaguchi, K., Milojkovic, B.A., Dortland, B.R., Ruigrok, T.J.H., Maex, R., De Graaf, W., Smit, A.E., VanderWerf, F., Bakker, C.E., Willemsen, R., Ikeda, T., Kakizawa, S., Onodera, K., Nelson, D.L., Mientjes, E., Joosten, M., De Schutter, E., Oostra, B.A., Ito, M., De Zeeuw, C.I.

“…Absence of functional FMRP causes Fragile X syndrome. Abnormalities in synaptic processes in the cerebral cortex and hippocampus contribute to cognitive…”
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Studying the genetics of Hirschsprung's disease: unraveling an oligogenic disorder by Brooks, AS, Oostra, BA, Hofstra, RMW

“…Hirschsprung's disease is characterized by the absence of ganglion cells in the myenteric and submucosal plexuses of the gastrointestinal tract. Genetic…”
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Cathepsin D gene and the risk of Alzheimer's disease: A population-based study and meta-analysis by Schuur, M, Ikram, M.A, van Swieten, J.C, Isaacs, A, Vergeer-Drop, J.M, Hofman, A, Oostra, B.A, Breteler, M.M.B, van Duijn, C.M

“…Abstract Cathepsin D ( CTSD ) is a gene involved in amyloid precursor protein processing and is considered a candidate for Alzheimer's disease (AD). The aim of…”
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