Search Results - "Ippel, P.F"

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)…”
Get full text

G.P.1 by Straathof, C.S.M, van Heusden, D, Ippel, P.F, Post, J.G, Voermans, N.C, de Visser, M, Brusse, E, van den Bergen, J.C, van der Kooi, A.J, Verschuuren, J.J.G, Ginjaar, H.B

“…The phenotype of Becker muscular dystrophy (BMD) is highly variable, and thus the disorder might be underdiagnosed. In this study we have reviewed the…”
Get full text

D.P.3.03 Inflammatory myopathy in scapulo-ilio-peroneal atrophy with cardiopathy in two unrelated families is associated with the desmin mutation Asn342Asp by van der Kooi, A.J, Kraak, M.M.J, Ippel, P.F, Vrancken, A.F, Hoogendijk, J.E, van den Wijngaard, A, van Tintelen, J.P, de Visser, M, Jennekens, F.G.I, Jongbloed, J.D.H

Get full text

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…”
Get full text

G.P.1: Refinement of diagnosis of Becker muscular dystrophy: Results of re-analysis of DNA samples by Straathof, C.S.M., van Heusden, D., Ippel, P.F., Post, J.G., Voermans, N.C., de Visser, M., Brusse, E., van den Bergen, J.C., van der Kooi, A.J., Verschuuren, J.J.G., Ginjaar, H.B.

“…The phenotype of Becker muscular dystrophy (BMD) is highly variable, and thus the disorder might be underdiagnosed. In this study we have reviewed the…”
Get full text

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…”
Get full text

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:…”
Get full text

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…”
Get full text

Complete FXN deletion in a patient with Friedreich's ataxia by van den Ouweland, Ans M W, van Minkelen, Rick, Bolman, Galhana M, Wouters, Cokkie H, Becht-Noordermeer, Cindy, Deelen, Wout H, Deelen-Manders, J Marianne C, Ippel, Elly P F, Saris, Jasper, Halley, Dicky J J

“…Most patients (98%) with Friedreich's ataxia (FRDA) are homozygous for the GAA repeat expansion in FXN. Only a few compound heterozygous patients with an…”
Get more information

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…”
Get full text

Familial, alternating Bell's palsy with dominant inheritance by Hageman, G, Ippel, P F, Jansen, E N, Rozeboom, A R

“…In this paper we present a study of 6 cases, running through three generations of a Dutch family, with alternating Bell's palsy in an autosomal dominant mode…”
Get more information

Are Lisch nodules an ocular marker of the neurofibromatosis gene in otherwise unaffected family members? by Toonstra, J, Dandrieu, M R, Ippel, P F, Delleman, J W, Rupert, Jr, P H, Huitema, H B

“…A male patient with classical neurofibromatosis is reported. Examination of the other family members revealed 2 patients with solitary cutaneous neurofibromas…”
Get more information

The diagnostic management of newborns with congenital contractures: a nosologic study of 75 cases by Hageman, G, Ippel, E P, Beemer, F A, de Pater, J M, Lindhout, D, Willemse, J

“…A prospective clinical study is presented of 75 patients with multiple congenital contractures. With the data from medical history, child neurologic…”
Get more information