Search Results - "Kneppers, ALJ"

Recurrence risk due to germ line mosaicism: Duchenne and Becker muscular dystrophy by Helderman-van den Enden, ATJM, De Jong, R, Den Dunnen, JT, Houwing-Duistermaat, JJ, Kneppers, ALJ, Ginjaar, HB, Breuning, MH, Bakker, E

“…The presence of multiple affected offspring from apparently non‐carrier parents is caused by germ line mosaicism. Although germ line mosaicism has been…”
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Duplications in the DMD gene by White, S.J., Aartsma-Rus, A., Flanigan, K.M., Weiss, R.B., Kneppers, A.L.J., Lalic, T., Janson, A.A.M., Ginjaar, H.B., Breuning, M.H., den Dunnen, J.T.

“…The detection of duplications in Duchenne (DMD)/Becker Muscular Dystrophy (BMD) has long been a neglected issue. However, recent technological advancements…”
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Diagnostic Notch3 sequence analysis in CADASIL: Three new mutations in Dutch patients by OBERSTEIN, S. A. J. L, FERRARI, M. D, BAKKER, E, VAN GESTEL, J, KNEPPERS, A. L. J, FRANTS, R. R, BREUNING, M. H, HAAN, J

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Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family by Ginjaar, I B, Kneppers, A L, v d Meulen, J D, Anderson, L V, Bremmer-Bout, M, van Deutekom, J C, Weegenaar, J, den Dunnen, J T, Bakker, E

“…Within one X-linked muscular dystrophy family, different phenotypes for three males occurred: (1) a severely affected Becker patient with cardiomyopathy, (2) a…”
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Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy by GINJAAR, H. B, VAN DER KOOI, A. J, JEANPIERRE, M, BOLHUIS, P. A, MOORMAN, A. F. M, DE VISSER, M, BAKKER, E, OMMEN, G. J. B. V, CEELIE, H, KNEPPERS, A. L. J, VAN MEEGEN, M, BARTH, P. G, BUSCH, H. F. M, WOKKE, J. H. J, ANDERSON, L. V. B, BÖNNEMANN, C. G

“…Within a group of 76 sporadic/autosomal recessive limb girdle muscular dystrophy (LGMD) patients we tried to identify those with LGMD type 2C-E. Muscle biopsy…”
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The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol by van Essen, A J, Kneppers, A L, van der Hout, A H, Scheffer, H, Ginjaar, I B, ten Kate, L P, van Ommen, G J, Buys, C H, Bakker, E

“…Detection of large rearrangements in the dystrophin gene in Duchenne and Becker muscular dystrophy is possible in about 65-70% of patients by Southern blotting…”
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Somatic mosaicism of a point mutation in the dystrophin gene in a patient presenting with an asymmetrical muscle weakness and contractures by Helderman-van den Enden, A.T.J.M., Ginjaar, H.B., Kneppers, A.L.J., Bakker, E., Breuning, M.H., de Visser, M.

“…We describe a patient with somatic mosaicism of a point mutation in the dystrophin gene causing benign muscular dystrophy with an unusual asymmetrical…”
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Different mosaicism frequencies for proximal and distal Duchenne muscular dystrophy (DMD) mutations indicate difference in etiology and recurrence risk by PASSOS-BUENO, M. R, BAKKER, E, KNEPPERS, A. L. J, TAKATA, R. I, RAPAPORT, DEN DUNNEN, J. T, ZATZ, M, VAN OMMEN, G. J. B

“…In about 65% of the cases of Duchenne muscular dystrophy (DMD) a partial gene deletion or duplication in the dystrophin gene can be detected. These mutations…”
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Diagnosis of Duchenne and Becker Muscular Dystrophies by Polymerase Chain Reaction: A Multicenter Study by Chamberlain, J S, Chamberlain, J R, Fenwick, R G, Ward, P A, Caskey, C T, Dimnik, L S, Bech-Hansen, N T, Hoar, D I, Richards, S, Covone, A E, Govanni, R, Abbs, S, Bentley, D R, Bobrow, M, Rysiecki, G, Ray, P N, Boileau, C, Junien, C, Boehm, C, Venne, V L, Fujmura, F K, Spiga, I, Ferrari, M, Tedeschi, S, Bakker, E, Kneppers, A L, van Ommen, G J, Jain, K, Spector, E, Crandall, B, Kiuru, A, Savontaus, M L

“…Objective.—To assess the efficiency, reliability, and ease of use of DNA diagnosis for Duchenne and Becker muscular dystrophies (DMD/BMD) using the polymerase…”
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Familial Paget's disease in The Netherlands: Occurrence, identification of new mutations in the sequestosome 1 gene, and their clinical associations by Eekhoff, E. W. M., Karperien, M., Houtsma, D., Zwinderman, A. H., Dragoiescu, C., Kneppers, A. L. J., Papapoulos, S. E.

“…Objective To estimate the occurrence of familial Paget's disease of bone in The Netherlands, to examine the prevalence of mutations of the sequestosome 1 gene…”
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Asymptomatic and late-onset ornithine transcarbamylase (OTC) deficiency in males of a five-generation family, caused by an A208T mutation by van Diggelen, O P, Zaremba, J, He, W, Keulemans, J L, Boer, A M, Reuser, A J, Ausems, M G, Smeitink, J A, Kowalczyk, J, Pronicka, E, Rokicki, D, Tarnowska-Dziduszko, E, Kneppers, A L, Bakker, E

“…In a large five-generation Polish family, late-onset ornithine transcarbamylase (OTC) deficiency in males segregated with the missense mutation Ala208Thr…”
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First-trimester prenatal diagnosis in twin pregnancies by Christiaens, G C, Oosterwijk, J C, Stigter, R H, Deutz-Terlouw, P P, Kneppers, A L, Bakker, E

“…Two twin pregnancies at risk for a sex-linked disorder are described. Both pregnancies were dichorionic. Transabdominal sampling was chosen for prenatal…”
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