Pearson PL - Search Results

1

Isolation of a random cosmid clone, cX5, which defines a new polymorphic locus DXS148 near the locus for Duchenne muscular dystrophy.

Hofker MH, Bergen AA, Skraastad MI, Bakker E, Francke U, Wieringa B, Bartley J, van Ommen GJ, Pearson PL. Hofker MH, et al. Among authors: pearson pl. Hum Genet. 1986 Nov;74(3):275-9. doi: 10.1007/BF00282548. Hum Genet. 1986. PMID: 2877936

2

Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome.

Francke U, Ochs HD, de Martinville B, Giacalone J, Lindgren V, Distèche C, Pagon RA, Hofker MH, van Ommen GJ, Pearson PL, et al. Francke U, et al. Among authors: pearson pl. Am J Hum Genet. 1985 Mar;37(2):250-67. Am J Hum Genet. 1985. PMID: 4039107 Free PMC article.

3

Mapping of recombinants near the Huntington disease locus by using G8 (D4S10) and newly isolated markers in the D4S10 region.

Skraastad MI, Bakker E, de Lange LF, Vegter-van der Vlis M, Klein-Breteler EG, van Ommen GJ, Pearson PL. Skraastad MI, et al. Among authors: pearson pl. Am J Hum Genet. 1989 Apr;44(4):560-6. Am J Hum Genet. 1989. PMID: 2564732 Free PMC article.

4

Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications.

Den Dunnen JT, Grootscholten PM, Bakker E, Blonden LA, Ginjaar HB, Wapenaar MC, van Paassen HM, van Broeckhoven C, Pearson PL, van Ommen GJ. Den Dunnen JT, et al. Among authors: pearson pl. Am J Hum Genet. 1989 Dec;45(6):835-47. Am J Hum Genet. 1989. PMID: 2573997 Free PMC article.

5

The X chromosome shows less genetic variation at restriction sites than the autosomes.

Hofker MH, Skraastad MI, Bergen AA, Wapenaar MC, Bakker E, Millington-Ward A, van Ommen GJ, Pearson PL. Hofker MH, et al. Among authors: pearson pl. Am J Hum Genet. 1986 Oct;39(4):438-51. Am J Hum Genet. 1986. PMID: 2876629 Free PMC article.

6

Development of additional RFLP probes near the locus for Duchenne muscular dystrophy by cosmid cloning of the DXS84 (754) locus.

Hofker MH, van Ommen GJ, Bakker E, Burmeister M, Pearson PL. Hofker MH, et al. Among authors: pearson pl. Hum Genet. 1986 Nov;74(3):270-4. doi: 10.1007/BF00282547. Hum Genet. 1986. PMID: 2877935

7

DNA probe analysis for carrier detection and prenatal diagnosis of Duchenne muscular dystrophy: a standard diagnostic procedure.

Bakker E, Bonten EJ, De Lange LF, Veenema H, Majoor-Krakauer D, Hofker MH, Van Ommen GJ, Pearson PL. Bakker E, et al. Among authors: pearson pl. J Med Genet. 1986 Dec;23(6):573-80. doi: 10.1136/jmg.23.6.573. J Med Genet. 1986. PMID: 2879929 Free PMC article.

8

Efficient isolation of X chromosome-specific single-copy probes from a cosmid library of a human X/hamster hybrid-cell line: mapping of new probes close to the locus for X-linked mental retardation.

Hofker MH, Bergen AA, Skraastad MI, Carpenter NJ, Veenema H, Connor JM, Bakker E, van Ommen GJ, Pearson PL. Hofker MH, et al. Among authors: pearson pl. Am J Hum Genet. 1987 Apr;40(4):312-28. Am J Hum Genet. 1987. PMID: 2883888 Free PMC article.

9

Isolation of probes detecting restriction fragment length polymorphisms from X chromosome-specific libraries: potential use for diagnosis of Duchenne muscular dystrophy.

Hofker MH, Wapenaar MC, Goor N, Bakker E, van Ommen GJ, Pearson PL. Hofker MH, et al. Among authors: pearson pl. Hum Genet. 1985;70(2):148-56. doi: 10.1007/BF00273073. Hum Genet. 1985. PMID: 2989153

10

Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations.

Bakker E, Veenema H, Den Dunnen JT, van Broeckhoven C, Grootscholten PM, Bonten EJ, van Ommen GJ, Pearson PL. Bakker E, et al. Among authors: pearson pl. J Med Genet. 1989 Sep;26(9):553-9. doi: 10.1136/jmg.26.9.553. J Med Genet. 1989. PMID: 2810338 Free PMC article.

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