Search Results - "Ippel, P. F."

WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations by Friedrich, Katrin, Lee, Lin, Leistritz, Dru F, Nürnberg, Gudrun, Saha, Bidisha, Hisama, Fuki M, Eyman, Daniel K, Lessel, Davor, Nürnberg, Peter, Li, Chumei, Garcia-F-Villalta, María J, Kets, Carolien M, Schmidtke, Joerg, Cruz, Vítor Tedim, Van den Akker, Peter C, Boak, Joseph, Peter, Dincy, Compoginis, Goli, Cefle, Kivanc, Ozturk, Sukru, López, Norberto, Wessel, Theda, Poot, Martin, Ippel, P. F, Groff-Kellermann, Birgit, Hoehn, Holger, Martin, George M, Kubisch, Christian, Oshima, Junko

“…Werner syndrome (WS) is an autosomal recessive segmental progeroid syndrome caused by null mutations at the WRN locus, which codes for a member of the RecQ…”
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Spinocerebellar ataxias in the Netherlands: Prevalence and age at onset variance analysis by VAN DE WARRENBURG, B. P. C, SINKE, R. J, KNOERS, N. V. A. M, KREMER, H. P. H, VERSCHUUREN-BEMELMANS, C. C, SCHEFFER, H, BRUNT, E. R, IPPEL, P. F, MAAT-KIEVIT, J. A, DOOIJES, D, NOTERMANS, N. C, LINDHOUT, D

“…International prevalence estimates of autosomal dominant cerebellar ataxias (ADCA) vary from 0.3 to 2.0 per 100,000. The prevalence of ADCA in the Netherlands…”
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Spinocerebellar ataxia type 6 (SCA6): neurodegeneration goes beyond the known brain predilection sites by Gierga, K., Schelhaas, H. J., Brunt, E. R., Seidel, K., Scherzed, W., Egensperger, R., De Vos, R. A. I., Den Dunnen, W., Ippel, P. F., Petrasch-Parwez, E., Deller, T., Schöls, L., Rüb, U.

“…Aims: Spinocerebellar ataxia type 6 (SCA6) is a late onset autosomal dominantly inherited ataxic disorder, which belongs to the group of CAG repeat, or…”
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Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in the Netherlands: a cohort study by Hoogerwaard, EM, Bakker, E, Ippel, PF, Oosterwijk, JC, Majoor-Krakauer, DF, Leschot, NJ, Van Essen, AJ, Brunner, HG, van der Wouw, PA, Wilde, AAM, de Visser, M

“…Carriers of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) may show muscle weakness or dilated cardiomyopathy. Studies focusing on…”
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Gly118asp is a SCA14 founder mutation in the Dutch ataxia population by VERBEEK, Dineke S, VAN DE WARRENBURG, Bart P. C, HENNEKAM, F. A. M, DOOIJES, Dennis, IPPEL, P. F, VERSCHUUREN-BEMELMANS, Corien C, KREMER, H. P. H, SINKE, Richard J

“…Missense mutations in the PRKCG gene have recently been identified in spinocerebellar ataxia 14 (SCA14) patients; these include the Gly118Asp mutation that we…”
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Prenatal testing for Huntington's disease in the Netherlands from 1998 to 2008 by van Rij, MC, de Koning Gans, PAM, Aalfs, CM, Elting, M, Ippel, PF, Maat-Kievit, JA, Vermeer, S, Verschuuren-Bemelmans, CC, van Belzen, MJ, Belfroid, RDM, Losekoot, M, Geraedts, JPM, Roos, RAC, Tibben, A, de Die-Smulders, CEM, Bijlsma, EK

“…This study aims to give an overview of the number of prenatal tests for Huntington's disease (HD), test results, and pregnancy outcomes in the Netherlands…”
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Spinocerebellar Ataxia Type 7 (SCA7): First Report of a Systematic Neuropathological Study of the Brain of a Patient with a Very Short Expanded CAG-Repeat by Rüb, U, Brunt, ER, Gierga, K, Seidel, K, Schultz, C, Schöls, L, Auburger, G, Heinsen, H, Ippel, PF, Glimmerveen, WF, Wittebol-Post, D, Arai, K, Deller, T, de Vos, RAI

“…Spinocerebellar ataxia type 7 (ScA7) represents a very rare and severe autosomal dominantly inherited cerebellar ataxia (AdCA). It belongs to the group of…”
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Cardiac involvement in carriers of Duchenne and Becker muscular dystrophy by Hoogerwaard, E.M., van der Wouw, P.A., Wilde, A.A.M., Bakker, E., Ippel, P.F., Oosterwijk, J.C., Majoor-Krakauer, D.F., van Essen, A.J., Leschot, N.J., de Visser, M.

“…A cross-sectional study in a cohort of DNA proven carriers of Duchenne (DMD) and Becker (BMD) muscular dystrophy was undertaken with the following objectives:…”
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Clinical and genetic analysis of a four-generation family with a distinct autosomal dominant cerebellar ataxia by SCHELHAAS, H. J, IPPEL, P. F, HAGEMAN, G, SINKE, R. J, VAN DER LAAN, E. N, BEEMER, F. A

“…The autosomal dominant cerebellar ataxias (ADCAs) are a heterogeneous group of neurodegenerative disorders characterised by progressive cerebellar dysfunction…”
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Cardiac abnormalities in a follow-up study on carriers of Duchenne and Becker muscular dystrophy by SCHADE VAN WESTRUM, S. M, HOOGERWAARD, E. M, WILDE, A. A. M, DE HAAN, R. J, DE VISSER, M, VAN DER KOOI, A. J, DEKKER, L, STANDAAR, T. S, BAKKER, E, IPPEL, P. F, OOSTERWIJK, J. C, MAJOOR-KRAKAUER, D. F, VAN ESSEN, A. J, LESCHOT, N. J

“…Cardiac involvement has been reported in carriers of dystrophin mutations giving rise to Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD)…”
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Characterization of partial trisomy 9p due to insertional translocation by chromosomal (micro)FISH by De Pater, JM, Ippel, PF, Van Dam, WM, Loneus, WH, Engelen, JJM

“…de Pater JM, Ippel PF, van Dam WM, Loneus WH, Engelen JJM. Characterization of partial trisomy 9p due to insertional translocation by chromosomal (micro)FISH. …”
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Similarities and differences in the phenotype, genotype and pathogenesis of different spinocerebellar ataxias by Schelhaas, H. J., Ippel, P. F., Beemer, F. A., Hageman, G.

“…Historically, the differential diagnosis of the autosomal ataxias (ADCAs) has been difficult. In 1983 Harding proposed a useful clinical classification. Since…”
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Differences between hereditary motor and sensory neuropathy type 2 and chronic idiopathic axonal neuropathy : A clinical and electrophysiological study by TEUNISSEN, L. L, NOTERMANS, N. C, WOKKE, J. H. J, FRANSSEN, H, VAN DER GRAAF, Y, OEY, P. L, LINSSEN, W. H. J. P, VAN ENGELEN, B. G. M, IPPEL, P. F, VAN DIJK, G. W, GABREELS-FESTEN, A. A. W. M

“…To evaluate whether chronic idiopathic axonal polyneuropathy (CIAP) should be considered as hereditary motor and sensory neuropathy type 2 (HMSN type 2), we…”
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Diagnostic, predictive, and prenatal testing for facioscapulohumeral muscular dystrophy: diagnostic approach for sporadic and familial cases by Bakker, E, Van der Wielen, M J, Voorhoeve, E, Ippel, P F, Padberg, G W, Frants, R R, Wijmenga, C

“…Facioscapulohumeral muscular dystrophy (FSHD) is one of the common inherited neuromuscular disorders. The major gene involved, FSHD1, has been localised to…”
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A new variant of sensory ataxic neuropathy with autosomal dominant inheritance by van Dijk, G W, Wokke, J H, Oey, P L, Franssen, H, Ippel, P F, Veldman, H

“…We describe a Dutch family with sensory ataxia in two generations, late onset of symptoms (over the age of 40 years) and slow progression. Clinical,…”
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Atelencephalic microcephaly : a case report and review of the literature by IPPEL, P. F, BRESLAU-SIDERIUS, E. J, HACK, W. W. M, VAN DER BLIJ, H. F, BOUVE, S, BIJLSMA, J. B

“…Atelencephalic microcephaly is a lethal form of abnormal cerebral development. In atelencephaly there is a rudimentary prosencephalon; in aprosencephaly, a…”
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Subcortical laminar heterotopia in two sisters and their mother: MRI, clinical findings and pathogenesis by van der Valk, P H, Snoeck, I, Meiners, L C, des Portes, V, Chelly, J, Pinard, J M, Ippel, P F, van Nieuwenhuizen, O, Peters, A C

“…MR imaging, clinical data and underlying pathogenesis of subcortical laminar heterotopia (SCLH), also known as band heterotopia, in two sisters and their…”
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A Dutch family with benign hereditary chorea of early onset: differentiation from Huntington's disease by Hageman, G., Ippel, P.F., van Hout, M.S.E., Rozeboom, A.R.

“…A large Dutch family of 88 members, running through five generations, is described with benign hereditary chorea of early onset. The clinical presentation was…”
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Autosomal dominant congenital Horner's syndrome in a Dutch family by Hageman, G, Ippel, P F, te Nijenhuis, F C

“…A Dutch family is reported with congenital Horner's syndrome in five cases spanning five generations, with symptoms of varying degree but mainly ptosis and…”
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Interstitial deletion 11q. Case report and review of the literature by De Pater, J M, Ippel, P F, Bijlsma, J B, Van Nieuwenhuizen, O

“…A mildly retarded male with a unique interstitial deletion 11 (pter-->q22.3::q23.2-->qter) is described. To the best of our knowledge this patient is the first…”
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