Eussen BH - Search Results

1

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: eussen bh. 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

2

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.

3

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: eussen bh. 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

4

A chromosome 21-specific cosmid cocktail for the detection of chromosome 21 aberrations in interphase nuclei.

van Opstal D, van Hemel JO, Eussen BH, van der Heide A, van den Berg C, In 'T Veld PA, Los FJ. van Opstal D, et al. Among authors: eussen bh. Prenat Diagn. 1995 Aug;15(8):705-11. doi: 10.1002/pd.1970150805. Prenat Diagn. 1995. PMID: 7479588 Free article.

5

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: eussen bh. Am J Hum Genet. 1994 Nov;55(5):923-31. Am J Hum Genet. 1994. PMID: 7977354 Free PMC article.

6

The murine CYLN2 gene: genomic organization, chromosome localization, and comparison to the human gene that is located within the 7q11.23 Williams syndrome critical region.

Hoogenraad CC, Eussen BH, Langeveld A, van Haperen R, Winterberg S, Wouters CH, Grosveld F, De Zeeuw CI, Galjart N. Hoogenraad CC, et al. Among authors: eussen bh. Genomics. 1998 Nov 1;53(3):348-58. doi: 10.1006/geno.1998.5529. Genomics. 1998. PMID: 9799601

7

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. 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.

8

Molecular cytogenetic analysis of eight inversion duplications of human chromosome 13q that each contain a neocentromere.

Warburton PE, Dolled M, Mahmood R, Alonso A, Li S, Naritomi K, Tohma T, Nagai T, Hasegawa T, Ohashi H, Govaerts LC, Eussen BH, Van Hemel JO, Lozzio C, Schwartz S, Dowhanick-Morrissette JJ, Spinner NB, Rivera H, Crolla JA, Yu C, Warburton D. Warburton PE, et al. Among authors: eussen bh. Am J Hum Genet. 2000 Jun;66(6):1794-806. doi: 10.1086/302924. Epub 2000 Apr 24. Am J Hum Genet. 2000. PMID: 10777715 Free PMC article. Review.

9

Large deletion at the TSC1 locus in a family with tuberous sclerosis complex.

Nellist M, Sancak O, Goedbloed MA, van Veghel-Plandsoen M, Maat-Kievit A, Lindhout D, Eussen BH, de Klein A, Halley DJ, van den Ouweland AM. Nellist M, et al. Among authors: eussen bh. Genet Test. 2005 Fall;9(3):226-30. doi: 10.1089/gte.2005.9.226. Genet Test. 2005. PMID: 16225402

10

A familial inverted duplication 2q33-q34 identified and delineated by multiple cytogenetic techniques.

Eussen BH, van de Laar I, Douben H, van Kempen L, Hochstenbach R, De Man SA, Van Opstal D, de Klein A, Poddighe PJ. Eussen BH, et al. Eur J Med Genet. 2007 Mar-Apr;50(2):112-9. doi: 10.1016/j.ejmg.2006.10.006. Epub 2006 Nov 3. Eur J Med Genet. 2007. PMID: 17161033

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

54 results

Search Page

Filters