Niermeijer MF - Search Results

1

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.

2

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

3

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.

4

Linkage analysis with chromosome 15q11-13 markers shows genomic imprinting in familial Angelman syndrome.

Meijers-Heijboer EJ, Sandkuijl LA, Brunner HG, Smeets HJ, Hoogeboom AJ, Deelen WH, van Hemel JO, Nelen MR, Smeets DF, Niermeijer MF, et al. Meijers-Heijboer EJ, et al. Among authors: niermeijer mf. J Med Genet. 1992 Dec;29(12):853-7. doi: 10.1136/jmg.29.12.853. J Med Genet. 1992. PMID: 1362220 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

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

7

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

8

Variable FMR1 gene methylation of large expansions leads to variable phenotype in three males from one fragile X family.

de Vries BB, Jansen CC, Duits AA, Verheij C, Willemsen R, van Hemel JO, van den Ouweland AM, Niermeijer MF, Oostra BA, Halley DJ. de Vries BB, et al. Among authors: niermeijer mf. J Med Genet. 1996 Dec;33(12):1007-10. doi: 10.1136/jmg.33.12.1007. J Med Genet. 1996. PMID: 9004132 Free PMC article. Review.

9

Etiological studies of severe or familial hypospadias.

Boehmer AL, Nijman RJ, Lammers BA, de Coninck SJ, Van Hemel JO, Themmen AP, Mureau MA, de Jong FH, Brinkmann AO, Niermeijer MF, Drop SL. Boehmer AL, et al. Among authors: niermeijer mf. J Urol. 2001 Apr;165(4):1246-54. J Urol. 2001. PMID: 11257695

10

[The Standard'(Threatened) Miscarriage' of the Dutch Society of Family Physicians].

Niermeijer MF, van Hemel JO. Niermeijer MF, et al. Ned Tijdschr Geneeskd. 1997 Jan 11;141(2):115-6. Ned Tijdschr Geneeskd. 1997. PMID: 9036342 Dutch. No abstract available.

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