van Hemel JO - Search Results

1

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: van hemel jo. 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.

2

At least nine cases of trisomy 11q23-->qter in one generation as a result of familial t(11;13) translocation.

Smeets D, van Ravenswaaij C, de Pater J, Gerssen-Schoorl K, Van Hemel J, Janssen G, Smits A. Smeets D, et al. J Med Genet. 1997 Jan;34(1):18-23. doi: 10.1136/jmg.34.1.18. J Med Genet. 1997. PMID: 9032644 Free PMC article.

3

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: van der est mn, van hemel jo. Hum Genet. 1995 May;95(5):562-7. doi: 10.1007/BF00223870. Hum Genet. 1995. PMID: 7759079

4

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

5

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: van hemel jo. 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.

6

Submicroscopic Xpter deletion in a boy with growth and mental retardation caused by a familial t(X;14).

de Vries BB, Eussen BH, van Diggelen OP, van Der Heide A, Deelen WH, Govaerts LC, Lindhout D, Wouters CH, Van Hemel JO. de Vries BB, et al. Among authors: van hemel jo. Am J Med Genet. 1999 Nov 19;87(2):189-94. doi: 10.1002/(sici)1096-8628(19991119)87:2<189::aid-ajmg12>3.3.co;2-h. Am J Med Genet. 1999. PMID: 10533035

7

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: van hemel jo. Am J Med Genet. 1991 Sep 1;40(3):383-6. doi: 10.1002/ajmg.1320400328. Am J Med Genet. 1991. PMID: 1951447

8

Interstitial del(13)(q21.3q31) associated with psychomotor retardation, eczema, and absent suck and swallowing reflex.

Peet PJ, Pereira RR, Van Hemel JO, Hoogeboom AJ. Peet PJ, et al. Among authors: van hemel jo. J Med Genet. 1987 Dec;24(12):786-8. doi: 10.1136/jmg.24.12.786. J Med Genet. 1987. PMID: 3430559 Free PMC article.

9

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: van opstal d. 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.

10

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: van den ouweland am, van hemel jo. 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.

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