Smeets HJ - Search Results

1

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. Hum Mol Genet. 1995 Nov;4(11):2103-8. doi: 10.1093/hmg/4.11.2103. Hum Mol Genet. 1995. PMID: 8589687

2

Prader-Willi syndrome and Angelman syndrome in cousins from a family with a translocation between chromosomes 6 and 15.

Smeets DF, Hamel BC, Nelen MR, Smeets HJ, Bollen JH, Smits AP, Ropers HH, van Oost BA. Smeets DF, et al. Among authors: smeets hj. N Engl J Med. 1992 Mar 19;326(12):807-11. doi: 10.1056/NEJM199203193261206. N Engl J Med. 1992. PMID: 1538725 Free article. No abstract available.

3

Aberrant splicing of the COL4A5 gene in patients with Alport syndrome.

Lemmink HH, Kluijtmans LA, Brunner HG, Schröder CH, Knebelmann B, Jelínková E, van Oost BA, Monnens LA, Smeets HJ. Lemmink HH, et al. Among authors: smeets hj. Hum Mol Genet. 1994 Feb;3(2):317-22. doi: 10.1093/hmg/3.2.317. Hum Mol Genet. 1994. PMID: 8004101

4

Gonosomal mosaicism in myotonic dystrophy patients: involvement of mitotic events in (CTG)n repeat variation and selection against extreme expansion in sperm.

Jansen G, Willems P, Coerwinkel M, Nillesen W, Smeets H, Vits L, Höweler C, Brunner H, Wieringa B. Jansen G, et al. Am J Hum Genet. 1994 Apr;54(4):575-85. Am J Hum Genet. 1994. PMID: 8128954 Free PMC article.

5

Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome.

Lemmink HH, Mochizuki T, van den Heuvel LP, Schröder CH, Barrientos A, Monnens LA, van Oost BA, Brunner HG, Reeders ST, Smeets HJ. Lemmink HH, et al. Among authors: smeets hj. Hum Mol Genet. 1994 Aug;3(8):1269-73. doi: 10.1093/hmg/3.8.1269. Hum Mol Genet. 1994. PMID: 7987301

6

Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients.

Braida C, Stefanatos RK, Adam B, Mahajan N, Smeets HJ, Niel F, Goizet C, Arveiler B, Koenig M, Lagier-Tourenne C, Mandel JL, Faber CG, de Die-Smulders CE, Spaans F, Monckton DG. Braida C, et al. Among authors: smeets hj. Hum Mol Genet. 2010 Apr 15;19(8):1399-412. doi: 10.1093/hmg/ddq015. Epub 2010 Jan 15. Hum Mol Genet. 2010. PMID: 20080938

7

Use of variable simple sequence motifs as genetic markers: application to study of myotonic dystrophy.

Smeets HJ, Brunner HG, Ropers HH, Wieringa B. Smeets HJ, et al. Hum Genet. 1989 Oct;83(3):245-51. doi: 10.1007/BF00285165. Hum Genet. 1989. PMID: 2571562

8

Myotonic dystrophy is closely linked to the gene for muscle-type creatine kinase (CKMM).

Brunner HG, Korneluk RG, Coerwinkel-Driessen M, MacKenzie A, Smeets H, Lambermon HM, van Oost BA, Wieringa B, Ropers HH. Brunner HG, et al. Hum Genet. 1989 Mar;81(4):308-10. doi: 10.1007/BF00283680. Hum Genet. 1989. PMID: 2703233

9

Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype.

Hellebrekers DMEI, Sallevelt SCEH, Theunissen TEJ, Hendrickx ATM, Gottschalk RW, Hoeijmakers JGJ, Habets DD, Bierau J, Schoonderwoerd KG, Smeets HJM. Hellebrekers DMEI, et al. Eur J Hum Genet. 2017 Jun;25(7):886-888. doi: 10.1038/ejhg.2017.62. Epub 2017 Apr 26. Eur J Hum Genet. 2017. PMID: 28443623 Free PMC article.

10

Paternal transmission of congenital myotonic dystrophy.

de Die-Smulders CE, Smeets HJ, Loots W, Anten HB, Mirandolle JF, Geraedts JP, Höweler CJ. de Die-Smulders CE, et al. Among authors: smeets hj. J Med Genet. 1997 Nov;34(11):930-3. doi: 10.1136/jmg.34.11.930. J Med Genet. 1997. PMID: 9391889 Free PMC article.

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