Oostra B - Search Results

1

Apparent regression of the CGG repeat in FMR1 to an allele of normal size.

Vits L, De Boulle K, Reyniers E, Handig I, Darby JK, Oostra B, Willems PJ. Vits L, et al. Among authors: oostra b. Hum Genet. 1994 Nov;94(5):523-6. doi: 10.1007/BF00211019. Hum Genet. 1994. PMID: 7959688

2

Segregation of the fragile X mutation from an affected male to his normal daughter.

Willems PJ, Van Roy B, De Boulle K, Vits L, Reyniers E, Beck O, Dumon JE, Verkerk A, Oostra B. Willems PJ, et al. Among authors: oostra b. Hum Mol Genet. 1992 Oct;1(7):511-5. doi: 10.1093/hmg/1.7.511. Hum Mol Genet. 1992. PMID: 1307252

3

The full mutation in the FMR-1 gene of male fragile X patients is absent in their sperm.

Reyniers E, Vits L, De Boulle K, Van Roy B, Van Velzen D, de Graaff E, Verkerk AJ, Jorens HZ, Darby JK, Oostra B, et al. Reyniers E, et al. Among authors: oostra b. Nat Genet. 1993 Jun;4(2):143-6. doi: 10.1038/ng0693-143. Nat Genet. 1993. PMID: 8348152

4

Instability of the CGG repeat and expression of the FMR1 protein in a male fragile X patient with a lung tumor.

de Graaff E, Willemsen R, Zhong N, de Die-Smulders CE, Brown WT, Freling G, Oostra B. de Graaff E, et al. Among authors: oostra b. Am J Hum Genet. 1995 Sep;57(3):609-18. Am J Hum Genet. 1995. PMID: 7668289 Free PMC article.

5

The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome.

Willemsen R, Hoogeveen-Westerveld M, Reis S, Holstege J, Severijnen LA, Nieuwenhuizen IM, Schrier M, van Unen L, Tassone F, Hoogeveen AT, Hagerman PJ, Mientjes EJ, Oostra BA. Willemsen R, et al. Hum Mol Genet. 2003 May 1;12(9):949-59. doi: 10.1093/hmg/ddg114. Hum Mol Genet. 2003. PMID: 12700164 Free article.

6

Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems.

Brooks AS, Bertoli-Avella AM, Burzynski GM, Breedveld GJ, Osinga J, Boven LG, Hurst JA, Mancini GM, Lequin MH, de Coo RF, Matera I, de Graaff E, Meijers C, Willems PJ, Tibboel D, Oostra BA, Hofstra RM. Brooks AS, et al. Am J Hum Genet. 2005 Jul;77(1):120-6. doi: 10.1086/431244. Epub 2005 May 9. Am J Hum Genet. 2005. PMID: 15883926 Free PMC article.

7

A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6p.

Wessels MW, De Graaf BM, Cohen-Overbeek TE, Spitaels SE, de Groot-de Laat LE, Ten Cate FJ, Frohn-Mulder IF, de Krijger R, Bartelings MM, Essed N, Wladimiroff JW, Niermeijer MF, Heutink P, Oostra BA, Dooijes D, Bertoli-Avella AM, Willems PJ. Wessels MW, et al. Hum Genet. 2008 Jan;122(6):595-603. doi: 10.1007/s00439-007-0436-x. Epub 2007 Oct 16. Hum Genet. 2008. PMID: 17938964

8

Ectopic expression of CGG containing mRNA is neurotoxic in mammals.

Hashem V, Galloway JN, Mori M, Willemsen R, Oostra BA, Paylor R, Nelson DL. Hashem V, et al. Hum Mol Genet. 2009 Jul 1;18(13):2443-51. doi: 10.1093/hmg/ddp182. Epub 2009 Apr 18. Hum Mol Genet. 2009. PMID: 19377084 Free PMC article.

9

Timing of the absence of FMR1 expression in full mutation chorionic villi.

Willemsen R, Bontekoe CJ, Severijnen LA, Oostra BA. Willemsen R, et al. Hum Genet. 2002 Jun;110(6):601-5. doi: 10.1007/s00439-002-0723-5. Epub 2002 Apr 16. Hum Genet. 2002. PMID: 12107447

10

Seventh International Workshop on the Fragile X and X-linked Mental Retardation.

Tranebjaerg L, Lubs HA, Borghgraef M, Brown WT, Fisch G, Fryns JP, Hagerman R, Jacobs PA, Mandel JL, Mulley J, Oostra B, Schwartz C, Sherman S, Willard H, Willems P. Tranebjaerg L, et al. Among authors: oostra b. Am J Med Genet. 1996 Jul 12;64(1):1-14. doi: 10.1002/(SICI)1096-8628(19960712)64:1<1::AID-AJMG1>3.0.CO;2-Z. Am J Med Genet. 1996. PMID: 8826442 No abstract available.

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