Search Results - "Pearson, PL"

Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications by DEN DUNNEN, J. T, GROOTSCHOLTEN, P. M, BAKKER, E, BLONDEN, L. A. J, GINJAAR, H. B, WAPENAAR, M. C, VAN PAASSEN, H. M. B, VAN BROECKHOVEN, C, PEARSON, P. L, VAN OMMEN, G. J. B

“…We have studied 34 Becker and 160 Duchenne muscular dystrophy (DMD) patients with the dystrophin cDNA, using conventional blots and FIGE analysis. One hundred…”
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Frequency of Von Hippel-Lindau germline mutations in classic and non-classic Von Hippel-Lindau disease identified by DNA sequencing, Southern blot analysis and multiplex ligation-dependent probe amplification by Hes, FJ, van der Luijt, RB, Janssen, ALW, Zewald, RA, de Jong, GJ, Lenders, JW, Links, TP, Luyten, GPM, Sijmons, RH, Eussen, HJ, Halley, DJJ, Lips, CJM, Pearson, PL, van den Ouweland, AMW, Majoor-Krakauer, DF

“…The current clinical diagnosis of Von Hippel‐Lindau (VHL) disease demands at least one specific a sporadic VHL manifestation in a patient with familial VHL…”
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The variability of female reproductive ageing by te Velde, Egbert R., Pearson, Peter L.

“…The delay in childbearing is an important societal change contributing to an increasing incidence of subfertility. The prevailing concept of female…”
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Identification of a new copper metabolism gene by positional cloning in a purebred dog population by VAN DE SLUIS, Bart, ROTHUIZEN, Jan, PEARSON, Peter L, VAN OOST, Bernard A, WIJMENGA, Cisca

“…Domesticated animal species such as dogs and cats, with their many different characteristics and breed-specific diseases, and their close relationship and…”
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A Whole-Genome Scan in 164 Dutch Sib Pairs with Attention-Deficit/Hyperactivity Disorder: Suggestive Evidence for Linkage on Chromosomes 7p and 15q by Bakker, S.C., Meulen, E. M. van der, Buitelaar, J.K., Sandkuijl, L.A., Pauls, D.L., Monsuur, A.J., Slot, R. van ‘t, Minderaa, R.B., Gunning, W.B., Pearson, P.L., Sinke, R.J.

“…A genome scan was performed on 164 Dutch affected sib pairs (ASPs) with attention-deficit/hyperactivity disorder (ADHD). All subjects were white and of Dutch…”
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Heritability of menopausal age in mothers and daughters by van Asselt, Kristel M, Kok, Helen S, Pearson, Peter L, Dubas, Judith S, Peeters, Petra H M, Te Velde, Egbert R, van Noord, Paulus A H

“…To determine the heritability of age at natural menopause from mother-daughter pairs. Two-generation families were selected to study heritability of menopausal…”
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The role of genetic factors in age at natural menopause by de Bruin, J.P., Bovenhuis, H., van Noord, P.A.H., Pearson, P.L., van Arendonk, J.A.M., te Velde, E.R., Kuurman, W.W., Dorland, M.

“…BACKGROUND: Environmental factors explain only a small part of the age variance at which menopause commences. The variation in natural menopause is a trait…”
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A major non-HLA locus in celiac disease maps to chromosome 19 by Van Belzen, Martine J, Meijer, Jos W.R, Sandkuijl, Lodewijk A, Bardoel, Alfons F.J, Mulder, Chris J.J, Pearson, Peter L, Houwen, Roderick H.J, Wijmenga, Cisca

“…Background & aims : The pathogenesis of celiac disease is still unknown despite its well-known association with human leukocyte antigen (HLA)-DQ2 and DQ8. It…”
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Mapping of the SCA23 locus involved in autosomal dominant cerebellar ataxia to chromosome region 20p13-12.3 by Verbeek, D. S., van de Warrenburg, B. P., Wesseling, P., Pearson, P. L., Kremer, H. P., Sinke, R. J.

“…We report upon a Dutch autosomal dominant cerebellar ataxia (ADCA) family, clinically characterized by a late-onset (>40 years), slowly progressive, isolated…”
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Neuregulin 1: genetic support for schizophrenia subtypes by Bakker, S C, Hoogendoorn, M L C, Selten, J-P, Verduijn, W, Pearson, P L, Sinke, R J, Kahn, R S

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Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family by VAN DE WARRENBURG, B. P. C, VERBEEK, D. S, PIERSMA, S. J, HENNEKAM, F. A. M, PEARSON, P. L, KNOERS, N. V. A. M, KREMER, H. P. H, SINKE, R. J

“…To report a Dutch family with autosomal dominant cerebellar ataxia (ADCA) based on a novel mutation in the PRKCG gene. The authors studied 13 affected members…”
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DAT1, DRD4, and DRD5 polymorphisms are not associated with ADHD in Dutch families by Bakker, Steven C., van der Meulen, Emma M., Oteman, Nicole, Schelleman, Hedi, Pearson, Peter L., Buitelaar, Jan K., Sinke, Richard J.

“…Recent meta‐analyses have indicated that the dopamine transporter gene (DAT1) and the dopamine receptor genes D4 (DRD4) and D5 (DRD5) are associated with…”
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Numerical chromosomal abnormalities in equine embryos produced in vivo and in vitro by Rambags, B.P.B., Krijtenburg, P.J., Drie, H.F. van, Lazzari, G., Galli, C., Pearson, P.L., Colenbrander, B., Stout, T.A.E.

“…Chromosomal aberrations are often listed as a significant cause of early embryonic death in the mare, despite the absence of any concrete evidence for their…”
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Linkage Analysis of Extremely Discordant and Concordant Sibling Pairs Identifies Quantitative Trait Loci Influencing Variation in Human Menopausal Age by van Asselt, Kristel M., Kok, Helen S., Putter, Hein, Wijmenga, Cisca, Peeters, Petra H.M., van der Schouw, Yvonne T., Grobbee, Diederick E., te Velde, Egbert R., Mosselman, Sietse, Pearson, Peter L.

“…Age at natural menopause may be used as parameter for evaluating the rate of ovarian aging. Environmental factors determine only a small part of the large…”
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CTLA4+49 A/G and CT60 polymorphisms in Dutch coeliac disease patients by VAN BELZEN, Martine J, MULDER, Chris J. J, ZHERNAKOVA, Alexandra, PEARSON, Peter L, HOUWEN, Roderick H. J, WIJMENGA, Cisca

“…Coeliac disease is an autoimmune disorder, characterised by villous atrophy of the small intestine, which results from a T-cell-mediated response to…”
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Role of genetic analyses in cardiology Part II: Heritability estimation for gene searching in multifactorial diseases by VAN ASSELT, Kristel M, KOK, Helen S, VAN DER SCHOUW, Yvonne T, PEETERS, Petra H. M, PEARSON, Peter L, GROBBEE, Diederick E

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High sibling correlation on methylphenidate response but no association with DAT1-10R homozygosity in Dutch sibpairs with ADHD by van der Meulen, Emma M., Bakker, Steven C., Pauls, David L., Oteman, Nicole, Kruitwagen, Cas L.J.J., Pearson, Peter L., Sinke, Richard J., Buitelaar, Jan K.

“…Background:  A minority of patients with attention‐deficit hyperactivity disorder (ADHD) do not respond favorably to methylphenidate. This has been partially…”
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Current Smoking at Menopause Rather than Duration Determines the Onset of Natural Menopause by van Asselt, Kristel M., Kok, Helen S., van der Schouw, Yvonne T., Grobbee, Diederick E., Velde, Egbert R. te, Pearson, Peter L., Peeters, Petra H. M.

“…Background: Smoking has frequently been associated with early menopause. However, studies of this association have been inconclusive with regard to duration…”
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The recurrent translocation t(14;20)(q32;q12) in multiple myeloma results in aberrant expression of MAFB: a molecular and genetic analysis of the chromosomal breakpoint by Boersma‐Vreugdenhil, Gienke R., Kuipers, Jeroen, Van Stralen, Esther, Peeters, Ton, Michaux, Lucienne, Hagemeijer, Anne, Pearson, Peter L., Clevers, Hans C., Bast, Bert J. E. G.

“…Summary Chromosomal translocations of the immunoglobulin heavy chain (IgH) gene region at 14q32 are regularly involved in B lymphoid malignancies; they may…”
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Genome-wide linkage in a large dutch consanguineous family maps a locus for intracranial aneurysms to chromosome 2p13 by ROOS, Y. B. W. E. M, PALS, G, WESTERVELD, A, STRUYCKEN, P. M, RINKEL, G. J. E, LIMBURG, M, PRONK, J. C, VAN DEN BERG, J. S. P, LUIJTEN, J. A. F. M, PEARSON, P. L, VERMEULEN, M

“…Familial occurrence of intracranial aneurysms suggests a genetic factor in the development of these aneurysms. In this study, we present the identification of…”
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