van Deutekom JC - Search Results

1

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: van den boorn n. Hum Genet. 1994 Apr;93(4):408-14. doi: 10.1007/BF00201665. Hum Genet. 1994. PMID: 8168811

2

Search for the FSHD gene using cDNA selection in a region spanning 100 kb on chromosome 4q35.

van Deutekom JC, Hofker MH, Romberg S, van Geel M, Rommens J, Wright TJ, Hewitt JE, Padberg GW, Wijmenga C, Frants RR. van Deutekom JC, et al. Among authors: van geel m. Muscle Nerve Suppl. 1995;2:S19-26. Muscle Nerve Suppl. 1995. PMID: 7739621 Free article.

3

Molecular genetic reevaluation of the Dutch hyperekplexia family.

Tijssen MA, Shiang R, van Deutekom J, Boerman RH, Wasmuth JJ, Sandkuijl LA, Frants RR, Padberg GW. Tijssen MA, et al. Arch Neurol. 1995 Jun;52(6):578-82. doi: 10.1001/archneur.1995.00540300052012. Arch Neurol. 1995. PMID: 7763205 Free article.

4

Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p.

Hazan J, Fontaine B, Bruyn RP, Lamy C, van Deutekom JC, Rime CS, Dürr A, Melki J, Lyon-Caen O, Agid Y, et al. Hazan J, et al. Among authors: van deutekom jc. Hum Mol Genet. 1994 Sep;3(9):1569-73. doi: 10.1093/hmg/3.9.1569. Hum Mol Genet. 1994. PMID: 7833913

5

Mutation in DHP receptor alpha 1 subunit (CACLN1A3) gene in a Dutch family with hypokalaemic periodic paralysis.

Boerman RH, Ophoff RA, Links TP, van Eijk R, Sandkuijl LA, Elbaz A, Vale-Santos JE, Wintzen AR, van Deutekom JC, Isles DE, et al. Boerman RH, et al. Among authors: van eijk r, van deutekom jc. J Med Genet. 1995 Jan;32(1):44-7. doi: 10.1136/jmg.32.1.44. J Med Genet. 1995. PMID: 7897626 Free PMC article.

6

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: van ommen gj, van deutekom jc. Genomics. 1994 Jan 1;19(1):21-6. doi: 10.1006/geno.1994.1006. Genomics. 1994. PMID: 7910579

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: van tienhoven ea, van ommen gj. Hum Mol Genet. 1993 Dec;2(12):2037-42. doi: 10.1093/hmg/2.12.2037. Hum Mol Genet. 1993. PMID: 8111371

8

Dominant congenital benign spinal muscular atrophy.

Frijns CJ, Van Deutekom J, Frants RR, Jennekens FG. Frijns CJ, et al. Muscle Nerve. 1994 Feb;17(2):192-7. doi: 10.1002/mus.880170210. Muscle Nerve. 1994. PMID: 8114789

9

Molecular genetics of facioscapulohumeral muscular dystrophy.

Wijmenga C, Frants RR, Hewitt JE, van Deutekom JC, van Geel M, Wright TJ, Padberg GW, Hofker MH, van Ommen GJ. Wijmenga C, et al. Among authors: van ommen gj, van geel m, van deutekom jc. Neuromuscul Disord. 1993 Sep-Nov;3(5-6):487-91. doi: 10.1016/0960-8966(93)90102-p. Neuromuscul Disord. 1993. PMID: 8186699 Review.

10

Hereditary spastic paraparesis. Clinical and genetic data from a large Dutch family.

Bruyn RP, van Deutekom J, Frants RR, Padberg GW. Bruyn RP, et al. Clin Neurol Neurosurg. 1993 Jun;95(2):125-9. doi: 10.1016/0303-8467(93)90006-3. Clin Neurol Neurosurg. 1993. PMID: 8344010

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