Van Hemel JO - Search Results

1

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.

2

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.

3

Chromosome studies of 500 couples with two or more abortions.

Sachs ES, Jahoda MG, Van Hemel JO, Hoogeboom AJ, Sandkuyl LA. Sachs ES, et al. Among authors: van hemel jo. Obstet Gynecol. 1985 Mar;65(3):375-8. Obstet Gynecol. 1985. PMID: 3974963

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. 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

5

De novo deletion (2) (p11.2p13): clinical, cytogenetic, and immunological data.

Los FJ, Van Hemel JO, Jacobs HJ, Drop SL, van Dongen JJ. Los FJ, et al. Among authors: van dongen jj, van hemel jo. J Med Genet. 1994 Jan;31(1):72-3. doi: 10.1136/jmg.31.1.72. J Med Genet. 1994. PMID: 8151644 Free PMC article.

6

An unbalanced submicroscopic translocation t(8;16)(q24.3;p13.3)pat associated with tuberous sclerosis complex, adult polycystic kidney disease, and hypomelanosis of Ito.

Eussen BH, Bartalini G, Bakker L, Balestri P, Di Lucca C, Van Hemel JO, Dauwerse H, van Den Ouweland AM, Ris-Stalpers C, Verhoef S, Halley DJ, Fois A. Eussen BH, et al. Among authors: van hemel jo. J Med Genet. 2000 Apr;37(4):287-91. doi: 10.1136/jmg.37.4.287. J Med Genet. 2000. PMID: 10745047 Free PMC article.

7

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

8

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.

9

Deletions at chromosome regions 7q11.23 and 7q36 in a patient with Williams syndrome.

Wouters CH, Meijers-Heijboer HJ, Eussen BJ, van der Heide AA, van Luijk RB, van Drunen E, Beverloo BB, Visscher F, Van Hemel JO. Wouters CH, et al. Among authors: van hemel jo. Am J Med Genet. 2001 Aug 15;102(3):261-5. doi: 10.1002/ajmg.1468. Am J Med Genet. 2001. PMID: 11484204

10

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. Hum Genet. 1992 Mar;88(6):661-7. doi: 10.1007/BF02265294. Hum Genet. 1992. PMID: 1551671 Review.

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