Galjaard RJ - Search Results

1

Park7, a novel locus for autosomal recessive early-onset parkinsonism, on chromosome 1p36.

van Duijn CM, Dekker MC, Bonifati V, Galjaard RJ, Houwing-Duistermaat JJ, Snijders PJ, Testers L, Breedveld GJ, Horstink M, Sandkuijl LA, van Swieten JC, Oostra BA, Heutink P. van Duijn CM, et al. Among authors: galjaard rj. Am J Hum Genet. 2001 Sep;69(3):629-34. doi: 10.1086/322996. Epub 2001 Jul 2. Am J Hum Genet. 2001. PMID: 11462174 Free PMC article.

2

Differences in complexity of isolated brachydactyly type C cannot be attributed to locus heterogeneity alone.

Galjaard RJ, van der Ham LI, Posch NA, Dijkstra PF, Oostra BA, Hovius SE, Timmenga EJ, Sonneveld GJ, Hoogeboom AJ, Heutink P. Galjaard RJ, et al. Am J Med Genet. 2001 Jan 22;98(3):256-62. doi: 10.1002/1096-8628(20010122)98:3<256::aid-ajmg1088>3.0.co;2-d. Am J Med Genet. 2001. PMID: 11169564

3

X-linked recessive inheritance of radial ray deficiencies in a family with four affected males.

Galjaard RJ, Kostakoglu N, Hoogeboom JJ, Breedveld GJ, van der Linde HC, Hovius SE, Oostra BA, Sandkuijl LA, Akarsu AN, Heutink P. Galjaard RJ, et al. Eur J Hum Genet. 2001 Sep;9(9):653-8. doi: 10.1038/sj.ejhg.5200692. Eur J Hum Genet. 2001. PMID: 11571552 Review.

4

Lymphangiectasia with persistent Müllerian derivatives: confirmation of autosomal recessive Urioste syndrome.

van Haelst MM, Hoogeboom J, Galjaard RJ, Kleijer WJ, den Hollander NS, de Krijger RR, Hennekam RC, Niermeijer MF. van Haelst MM, et al. Among authors: galjaard rj. Am J Med Genet. 2001 Nov 15;104(1):65-8. doi: 10.1002/ajmg.1518.abs. Am J Med Genet. 2001. PMID: 11746030

5

A new locus for postaxial polydactyly type A/B on chromosome 7q21-q34.

Galjaard RJ, Smits AP, Tuerlings JH, Bais AG, Bertoli Avella AM, Breedveld G, de Graaff E, Oostra BA, Heutink P. Galjaard RJ, et al. Eur J Hum Genet. 2003 May;11(5):409-15. doi: 10.1038/sj.ejhg.5200982. Eur J Hum Genet. 2003. PMID: 12734547

6

Isolated postaxial polydactyly type B with mosaicism of a submicroscopic unbalanced translocation leading to an extended phenotype in offspring.

Galjaard RJ, van der Linde HC, Eussen BH, de Vries BB, Wouters CH, Oostra BA, de Graaff E, Heutink P. Galjaard RJ, et al. Am J Med Genet A. 2003 Aug 30;121A(2):168-73. doi: 10.1002/ajmg.a.20165. Am J Med Genet A. 2003. PMID: 12910499

7

Congenital diaphragmatic hernia and chromosome 15q26: determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization.

Klaassens M, van Dooren M, Eussen HJ, Douben H, den Dekker AT, Lee C, Donahoe PK, Galjaard RJ, Goemaere N, de Krijger RR, Wouters C, Wauters J, Oostra BA, Tibboel D, de Klein A. Klaassens M, et al. Among authors: galjaard rj. Am J Hum Genet. 2005 May;76(5):877-82. doi: 10.1086/429842. Epub 2005 Mar 4. Am J Hum Genet. 2005. PMID: 15750894 Free PMC article.

8

Congenital diaphragmatic hernia associated with duplication of 11q23-qter.

Klaassens M, Scott DA, van Dooren M, Hochstenbach R, Eussen HJ, Cai WW, Galjaard RJ, Wouters C, Poot M, Laudy J, Lee B, Tibboel D, de Klein A. Klaassens M, et al. Among authors: galjaard rj. Am J Med Genet A. 2006 Jul 15;140(14):1580-6. doi: 10.1002/ajmg.a.31321. Am J Med Genet A. 2006. PMID: 16770801 Free PMC article.

9

De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome.

Matsuura T, Sutcliffe JS, Fang P, Galjaard RJ, Jiang YH, Benton CS, Rommens JM, Beaudet AL. Matsuura T, et al. Among authors: galjaard rj. Nat Genet. 1997 Jan;15(1):74-7. doi: 10.1038/ng0197-74. Nat Genet. 1997. PMID: 8988172

10

Rapid aneuploidy detection with multiplex ligation-dependent probe amplification: a prospective study of 4000 amniotic fluid samples.

Van Opstal D, Boter M, de Jong D, van den Berg C, Brüggenwirth HT, Wildschut HI, de Klein A, Galjaard RJ. Van Opstal D, et al. Among authors: galjaard rj. Eur J Hum Genet. 2009 Jan;17(1):112-21. doi: 10.1038/ejhg.2008.161. Epub 2008 Sep 10. Eur J Hum Genet. 2009. PMID: 18781187 Free PMC article.

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