Frants RR - Search Results

1

Chromosome 4q35 haplotypes and DNA rearrangements segregating in affected subjects of 19 Italian families with facioscapulohumeral muscular dystrophy (FSHD).

Cacurri S, Deidda G, Piazzo N, Novelletto A, La Cesa I, Servidei S, Galluzzi G, Wijmenga C, Frants RR, Felicetti L. Cacurri S, et al. Among authors: frants rr. Hum Genet. 1994 Oct;94(4):367-74. doi: 10.1007/BF00201595. Hum Genet. 1994. PMID: 7927331

2

Fine mapping of the FSHD gene region orientates the rearranged fragment detected by the probe p13E-11.

Wright TJ, Wijmenga C, Clark LN, Frants RR, Williamson R, Hewitt JE. Wright TJ, et al. Among authors: frants rr. Hum Mol Genet. 1993 Oct;2(10):1673-8. doi: 10.1093/hmg/2.10.1673. Hum Mol Genet. 1993. PMID: 7903581

3

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.

4

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

5

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

6

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.

7

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.

8

Physical mapping and YAC-cloning connects four genetically distinct 4qter loci (D4S163, D4S139, D4F35S1 and D4F104S1) in the FSHD gene-region.

Wijmenga C, Wright TJ, Baan MJ, Padberg GW, Williamson R, van Ommen GJ, Hewitt JE, Hofker MH, Frants RR. Wijmenga C, et al. Among authors: frants rr. Hum Mol Genet. 1993 Oct;2(10):1667-72. doi: 10.1093/hmg/2.10.1667. Hum Mol Genet. 1993. PMID: 8268920

9

Diagnostic, predictive, and prenatal testing for facioscapulohumeral muscular dystrophy: diagnostic approach for sporadic and familial cases.

Bakker E, Van der Wielen MJ, Voorhoeve E, Ippel PF, Padberg GW, Frants RR, Wijmenga C. Bakker E, et al. Among authors: frants rr. J Med Genet. 1996 Jan;33(1):29-35. doi: 10.1136/jmg.33.1.29. J Med Genet. 1996. PMID: 8825045 Free PMC article.

10

Inter- and intrachromosomal sub-telomeric rearrangements on 4q35: implications for facioscapulohumeral muscular dystrophy (FSHD) aetiology and diagnosis.

Lemmers RJ, van der Maarel SM, van Deutekom JC, van der Wielen MJ, Deidda G, Dauwerse HG, Hewitt J, Hofker M, Bakker E, Padberg GW, Frants RR. Lemmers RJ, et al. Among authors: frants rr. Hum Mol Genet. 1998 Aug;7(8):1207-14. doi: 10.1093/hmg/7.8.1207. Hum Mol Genet. 1998. PMID: 9668160

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