Oostra B - Search Results

1

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

2

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

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

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.

5

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

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

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.

8

Strategy for reliable prenatal detection of normal male carriers of the fragile X syndrome.

Halley D, Van Den Ouweland A, Deelen W, Verma I, Oostra B. Halley D, et al. Among authors: oostra b. Am J Med Genet. 1994 Jul 15;51(4):471-3. doi: 10.1002/ajmg.1320510435. Am J Med Genet. 1994. PMID: 7943022

9

Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome.

van de Laar IM, van der Linde D, Oei EH, Bos PK, Bessems JH, Bierma-Zeinstra SM, van Meer BL, Pals G, Oldenburg RA, Bekkers JA, Moelker A, de Graaf BM, Matyas G, Frohn-Mulder IM, Timmermans J, Hilhorst-Hofstee Y, Cobben JM, Bruggenwirth HT, van Laer L, Loeys B, De Backer J, Coucke PJ, Dietz HC, Willems PJ, Oostra BA, De Paepe A, Roos-Hesselink JW, Bertoli-Avella AM, Wessels MW. van de Laar IM, et al. Among authors: oostra ba. J Med Genet. 2012 Jan;49(1):47-57. doi: 10.1136/jmedgenet-2011-100382. J Med Genet. 2012. PMID: 22167769

10

CNTNAP2 is disrupted in a family with Gilles de la Tourette syndrome and obsessive compulsive disorder.

Verkerk AJ, Mathews CA, Joosse M, Eussen BH, Heutink P, Oostra BA; Tourette Syndrome Association International Consortium for Genetics. Verkerk AJ, et al. Genomics. 2003 Jul;82(1):1-9. doi: 10.1016/s0888-7543(03)00097-1. Genomics. 2003. PMID: 12809671

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