Niermeijer MF - Search Results

1

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: niermeijer mf. 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.

2

Intragenic probe used for diagnostics in fragile X families.

Verkerk AJ, deVries BB, Niermeijer MF, Fu YH, Nelson DL, Warren ST, Majoor-Krakauer DF, Halley DJ, Oostra BA. Verkerk AJ, et al. Among authors: niermeijer mf. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):192-6. doi: 10.1002/ajmg.1320430132. Am J Med Genet. 1992. PMID: 1605192

3

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. Among authors: niermeijer mf. Am J Med Genet. 1991 Sep 1;40(3):383-6. doi: 10.1002/ajmg.1320400328. Am J Med Genet. 1991. PMID: 1951447

4

Recurrence of DiGeorge syndrome: prenatal detection by FISH of a molecular 22q11 deletion.

Van Hemel JO, Schaap C, Van Opstal D, Mulder MP, Niermeijer MF, Meijers JH. Van Hemel JO, et al. Among authors: niermeijer mf. J Med Genet. 1995 Aug;32(8):657-8. doi: 10.1136/jmg.32.8.657. J Med Genet. 1995. PMID: 7473663 Free PMC article.

5

DNA diagnosis of Prader-Willi and Angelman syndromes with the probe PW71 (D15S63).

van den Ouweland AM, van der Est MN, Wesby-van Swaay E, Tijmensen TS, Los FJ, Van Hemel JO, Hennekam RC, Meijers-Heijboer HJ, Niermeijer MF, Halley DJ. van den Ouweland AM, et al. Among authors: niermeijer mf. Hum Genet. 1995 May;95(5):562-7. doi: 10.1007/BF00223870. Hum Genet. 1995. PMID: 7759079

6

The Prader-Willi-like phenotype in fragile X patients: a designation facilitating clinical (and molecular) differential diagnosis.

De Vries BB, Niermeijer MF. De Vries BB, et al. Among authors: niermeijer mf. J Med Genet. 1994 Oct;31(10):820. doi: 10.1136/jmg.31.10.820. J Med Genet. 1994. PMID: 7837263 Free PMC article. No abstract available.

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: niermeijer mf. Am J Med Genet. 1994 Jul 15;51(4):482-5. doi: 10.1002/ajmg.1320510437. Am J Med Genet. 1994. PMID: 7943024

8

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: niermeijer mf. Eur J Hum Genet. 1993;1(1):72-9. doi: 10.1159/000472389. Eur J Hum Genet. 1993. PMID: 8069653

9

The fragile-X syndrome: a growing gene causing familial intellectual disability.

De Vries LB, Halley DJ, Oostra BA, Niermeijer MF. De Vries LB, et al. Among authors: niermeijer mf. J Intellect Disabil Res. 1994 Feb;38 ( Pt 1):1-8. doi: 10.1111/j.1365-2788.1994.tb00342.x. J Intellect Disabil Res. 1994. PMID: 8173220 Review.

10

General overgrowth in the fragile X syndrome: variability in the phenotypic expression of the FMR1 gene mutation.

de Vries BB, Robinson H, Stolte-Dijkstra I, Tjon Pian Gi CV, Dijkstra PF, van Doorn J, Halley DJ, Oostra BA, Turner G, Niermeijer MF. de Vries BB, et al. Among authors: niermeijer mf. J Med Genet. 1995 Oct;32(10):764-9. doi: 10.1136/jmg.32.10.764. J Med Genet. 1995. PMID: 8558551 Free PMC article.

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