Frants RR - Search Results

1

De novo facioscapulohumeral muscular dystrophy: frequent somatic mosaicism, sex-dependent phenotype, and the role of mitotic transchromosomal repeat interaction between chromosomes 4 and 10.

van der Maarel SM, Deidda G, Lemmers RJ, van Overveld PG, van der Wielen M, Hewitt JE, Sandkuijl L, Bakker B, van Ommen GJ, Padberg GW, Frants RR. van der Maarel SM, et al. Among authors: frants rr. Am J Hum Genet. 2000 Jan;66(1):26-35. doi: 10.1086/302730. Am J Hum Genet. 2000. PMID: 10631134 Free PMC article.

2

Early onset facioscapulohumeral muscular dystrophy.

Brouwer OF, Padberg GW, Bakker E, Wijmenga C, Frants RR. Brouwer OF, et al. Among authors: frants rr. Muscle Nerve Suppl. 1995;2:S67-72. Muscle Nerve Suppl. 1995. PMID: 7739629

3

Facioscapulohumeral muscular dystrophy in the Dutch population.

Padberg GW, Frants RR, Brouwer OF, Wijmenga C, Bakker E, Sandkuijl LA. Padberg GW, et al. Among authors: frants rr. Muscle Nerve Suppl. 1995;2:S81-4. Muscle Nerve Suppl. 1995. PMID: 7739631 Free article.

4

Pulsed-field gel electrophoresis of the D4F104S1 locus reveals the size and the parental origin of the facioscapulohumeral muscular dystrophy (FSHD)-associated deletions.

Wijmenga C, van Deutekom JC, Hewitt JE, Padberg GW, van Ommen GJ, Hofker MH, Frants RR. Wijmenga C, et al. Among authors: frants rr. Genomics. 1994 Jan 1;19(1):21-6. doi: 10.1006/geno.1994.1006. Genomics. 1994. PMID: 7910579

5

Facioscapulohumeral muscular dystrophy: the impact of genetic research.

Brouwer OF, Wijmenga C, Frants RR, Padberg GW. Brouwer OF, et al. Among authors: frants rr. Clin Neurol Neurosurg. 1993 Mar;95(1):9-21. doi: 10.1016/0303-8467(93)90086-v. Clin Neurol Neurosurg. 1993. PMID: 8095870 Review.

6

The human skeletal muscle adenine nucleotide translocator gene maps to chromosome 4q35 in the region of the facioscapulohumeral muscular dystrophy locus.

Wijmenga C, Winokur ST, Padberg GW, Skraastad MI, Altherr MR, Wasmuth JJ, Murray JC, Hofker MH, Frants RR. Wijmenga C, et al. Among authors: frants rr. Hum Genet. 1993 Sep;92(2):198-203. doi: 10.1007/BF00219692. Hum Genet. 1993. PMID: 8103757

7

FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit.

van Deutekom JC, Wijmenga C, van Tienhoven EA, Gruter AM, Hewitt JE, Padberg GW, van Ommen GJ, Hofker MH, Frants RR. van Deutekom JC, et al. Among authors: frants rr. Hum Mol Genet. 1993 Dec;2(12):2037-42. doi: 10.1093/hmg/2.12.2037. Hum Mol Genet. 1993. PMID: 8111371

8

Genetic mapping of facioscapulohumeral muscular dystrophy.

Wijmenga C, Hofker MH, Padberg GW, Frants RR. Wijmenga C, et al. Among authors: frants rr. Mol Cell Biol Hum Dis Ser. 1993;3:111-38. doi: 10.1007/978-94-011-1528-5_5. Mol Cell Biol Hum Dis Ser. 1993. PMID: 8111536 Review. No abstract available.

9

Facioscapulohumeral muscular dystrophy in early childhood.

Brouwer OF, Padberg GW, Wijmenga C, Frants RR. Brouwer OF, et al. Among authors: frants rr. Arch Neurol. 1994 Apr;51(4):387-94. doi: 10.1001/archneur.1994.00540160085011. Arch Neurol. 1994. PMID: 8155016 Review.

10

Pure hereditary spastic paraparesis: an exclusion map covering more than 40% of the autosomal genome.

van Deutekom JC, Bruyn RP, van den Boorn N, Sandkuijl LA, Padberg GW, Frants RR. van Deutekom JC, et al. Among authors: frants rr. Hum Genet. 1994 Apr;93(4):408-14. doi: 10.1007/BF00201665. Hum Genet. 1994. PMID: 8168811

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