Smits AP - Search Results

1

Hotspot for deletions in the CGG repeat region of FMR1 in fragile X patients.

de Graaff E, Rouillard P, Willems PJ, Smits AP, Rousseau F, Oostra BA. de Graaff E, et al. Among authors: smits ap. Hum Mol Genet. 1995 Jan;4(1):45-9. doi: 10.1093/hmg/4.1.45. Hum Mol Genet. 1995. PMID: 7711733 Free article.

2

New distal marker closely linked to the fragile X locus.

Hulsebos TJ, Oostra BA, Broersen S, Smits A, van Oost BA, Westerveld A. Hulsebos TJ, et al. Hum Genet. 1991 Jul;87(3):369-72. doi: 10.1007/BF00200922. Hum Genet. 1991. PMID: 1677926 Free article.

3

Rapid antibody test for diagnosing fragile X syndrome: a validation of the technique.

Willemsen R, Smits A, Mohkamsing S, van Beerendonk H, de Haan A, de Vries B, van den Ouweland A, Sistermans E, Galjaard H, Oostra BA. Willemsen R, et al. Hum Genet. 1997 Mar;99(3):308-11. doi: 10.1007/s004390050363. Hum Genet. 1997. PMID: 9050914 Free article.

4

Noninvasive test for fragile X syndrome, using hair root analysis.

Willemsen R, Anar B, De Diego Otero Y, de Vries BB, Hilhorst-Hofstee Y, Smits A, van Looveren E, Willems PJ, Galjaard H, Oostra BA. Willemsen R, et al. Am J Hum Genet. 1999 Jul;65(1):98-103. doi: 10.1086/302462. Am J Hum Genet. 1999. PMID: 10364521 Free PMC article.

5

Validation of linkage-based DNA-diagnosis of fragile X gene carriers with the CGG repeat probe.

van Oost BA, Smits AP, Dreesen JC, van den Ouweland AM, Oostra BA. van Oost BA, et al. Among authors: smits ap. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):320-7. doi: 10.1002/ajmg.1320430149. Am J Med Genet. 1992. PMID: 1605205

6

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

7

The fragile X syndrome: no evidence for any recent mutations.

Smits AP, Dreesen JC, Post JG, Smeets DF, de Die-Smulders C, Spaans-van der Bijl T, Govaerts LC, Warren ST, Oostra BA, van Oost BA. Smits AP, et al. J Med Genet. 1993 Feb;30(2):94-6. doi: 10.1136/jmg.30.2.94. J Med Genet. 1993. PMID: 8445628 Free PMC article.

8

Normal phenotype in two brothers with a full FMR1 mutation.

Smeets HJ, Smits AP, Verheij CE, Theelen JP, Willemsen R, van de Burgt I, Hoogeveen AT, Oosterwijk JC, Oostra BA. Smeets HJ, et al. Among authors: smits ap. Hum Mol Genet. 1995 Nov;4(11):2103-8. doi: 10.1093/hmg/4.11.2103. Hum Mol Genet. 1995. PMID: 8589687

9

Mental status of females with an FMR1 gene full mutation.

de Vries BB, Wiegers AM, Smits AP, Mohkamsing S, Duivenvoorden HJ, Fryns JP, Curfs LM, Halley DJ, Oostra BA, van den Ouweland AM, Niermeijer MF. de Vries BB, et al. Among authors: smits ap. Am J Hum Genet. 1996 May;58(5):1025-32. Am J Hum Genet. 1996. PMID: 8651263 Free PMC article.

10

Imprinting effect in premature ovarian failure confined to paternally inherited fragile X premutations.

Hundscheid RD, Sistermans EA, Thomas CM, Braat DD, Straatman H, Kiemeney LA, Oostra BA, Smits AP. Hundscheid RD, et al. Among authors: smits ap. Am J Hum Genet. 2000 Feb;66(2):413-8. doi: 10.1086/302774. Am J Hum Genet. 2000. PMID: 10677300 Free PMC article.

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