Oostra BA - Search Results

1

Molecular detection of a translocation (Y;11) (q11.2;q24) in a 45,X male with signs of Jacobsen syndrome.

Van Hemel JO, Eussen B, Wesby-van Swaay E, Oostra BA. Van Hemel JO, et al. Among authors: oostra ba. Hum Genet. 1992 Mar;88(6):661-7. doi: 10.1007/BF02265294. Hum Genet. 1992. PMID: 1551671 Review.

2

Limited size of the fragile X site shown by fluorescence in situ hybridization.

Verkerk AJ, Eussen BH, Van Hemel JO, Oostra BA. Verkerk AJ, et al. Among authors: oostra ba. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):187-91. doi: 10.1002/ajmg.1320430131. Am J Med Genet. 1992. PMID: 1605191

3

Isolated lissencephaly sequence associated with a microdeletion at chromosome 17p13.

De Rijk-van Andel JF, Catsman-Berrevoets CE, Halley DJ, Wesby-van Swaay E, Niermeijer MF, Oostra BA. De Rijk-van Andel JF, et al. Among authors: oostra ba. Hum Genet. 1991 Aug;87(4):509-10. doi: 10.1007/BF00197179. Hum Genet. 1991. PMID: 1879837

4

DNA analysis in patients with lissencephaly type I and other cortical dysplasias.

Oostra BA, de Rijk-van Andel JF, Eussen HJ, van Hemel JO, Halley DJ, Niermeijer MF. Oostra BA, et al. Am J Med Genet. 1991 Sep 1;40(3):383-6. doi: 10.1002/ajmg.1320400328. Am J Med Genet. 1991. PMID: 1951447

5

Mapping of a new RFLP marker RN1 (DXS369) close to the fragile site FRAXA on Xq27-q28.

Oostra BA, Majoor-Krakauer DF, van Hemel JO, Bakker E, Callen DF, Schmidt M, van Oost BA. Oostra BA, et al. Am J Med Genet. 1991 Feb-Mar;38(2-3):332-5. doi: 10.1002/ajmg.1320380233. Am J Med Genet. 1991. PMID: 1673306

6

The effect of a single base pair deletion (delta T525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal alpha-glucosidase in patients with glycogen storage disease type II.

Hermans MM, De Graaff E, Kroos MA, Mohkamsing S, Eussen BJ, Joosse M, Willemsen R, Kleijer WJ, Oostra BA, Reuser AJ. Hermans MM, et al. Among authors: oostra ba. Hum Mol Genet. 1994 Dec;3(12):2213-8. doi: 10.1093/hmg/3.12.2213. Hum Mol Genet. 1994. PMID: 7881422

7

DNA diagnosis of the fragile X syndrome in a series of 236 mentally retarded subjects and evidence for a reversal of mutation in the FMR-1 gene.

van den Ouweland AM, de Vries BB, Bakker PL, Deelen WH, de Graaff E, van Hemel JO, Oostra BA, Niermeijer MF, Halley DJ. van den Ouweland AM, et al. Among authors: oostra ba. Am J Med Genet. 1994 Jul 15;51(4):482-5. doi: 10.1002/ajmg.1320510437. Am J Med Genet. 1994. PMID: 7943024

8

Segregation of FRAXE in a large family: clinical, psychometric, cytogenetic, and molecular data.

Hamel BC, Smits AP, de Graaff E, Smeets DF, Schoute F, Eussen BH, Knight SJ, Davies KE, Assman-Hulsmans CF, Oostra BA. Hamel BC, et al. Among authors: oostra ba. Am J Hum Genet. 1994 Nov;55(5):923-31. Am J Hum Genet. 1994. PMID: 7977354 Free PMC article.

9

Mental status and fragile X expression in relation to FMR-1 gene mutation.

de Vries BB, Wiegers AM, de Graaff E, Verkerk AJ, Van Hemel JO, Halley DJ, Fryns JP, Curfs LM, Niermeijer MF, Oostra BA. de Vries BB, et al. Among authors: oostra ba. Eur J Hum Genet. 1993;1(1):72-9. doi: 10.1159/000472389. Eur J Hum Genet. 1993. PMID: 8069653

10

Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype.

de Vries BB, Fryns JP, Butler MG, Canziani F, Wesby-van Swaay E, van Hemel JO, Oostra BA, Halley DJ, Niermeijer MF. de Vries BB, et al. Among authors: oostra ba. J Med Genet. 1993 Sep;30(9):761-6. doi: 10.1136/jmg.30.9.761. J Med Genet. 1993. PMID: 8411072 Free PMC article.

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