Nelen MR - Search Results

1

Linkage analysis with chromosome 15q11-13 markers shows genomic imprinting in familial Angelman syndrome.

Meijers-Heijboer EJ, Sandkuijl LA, Brunner HG, Smeets HJ, Hoogeboom AJ, Deelen WH, van Hemel JO, Nelen MR, Smeets DF, Niermeijer MF, et al. Meijers-Heijboer EJ, et al. Among authors: nelen mr. J Med Genet. 1992 Dec;29(12):853-7. doi: 10.1136/jmg.29.12.853. J Med Genet. 1992. PMID: 1362220 Free PMC article.

2

Confirmation of X-linked inheritance and provisional mapping of the keratosis follicularis spinulosa decalvans gene on Xp in a large Dutch family.

Oosterwijk JC, Nelen M, Van Zandvoort PM, Van Osch LD, Oranje AP, Wittebol-Post D, Van Oost BA. Oosterwijk JC, et al. Ophthalmic Paediatr Genet. 1992 Mar;13(1):27-30. doi: 10.3109/13816819209070050. Ophthalmic Paediatr Genet. 1992. PMID: 1350668

3

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: nelen mr. 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.

4

Linkage analysis of keratosis follicularis spinulosa decalvans, and regional assignment to human chromosome Xp21.2-p22.2.

Oosterwijk JC, Nelen M, van Zandvoort PM, van Osch LD, Oranje AP, Wittebol-Post D, van Oost BA. Oosterwijk JC, et al. Am J Hum Genet. 1992 Apr;50(4):801-7. Am J Hum Genet. 1992. PMID: 1550124 Free PMC article.

5

Different mutations in the COL4A5 collagen gene in two patients with different features of Alport syndrome.

Smeets HJ, Melenhorst JJ, Lemmink HH, Schröder CH, Nelen MR, Zhou J, Hostikka SL, Tryggvason K, Ropers HH, Jansweijer MC, et al. Smeets HJ, et al. Among authors: nelen mr. Kidney Int. 1992 Jul;42(1):83-8. doi: 10.1038/ki.1992.264. Kidney Int. 1992. PMID: 1635357 Free article.

6

Molecular genetics of X-linked hearing impairment.

Brunner HG, Smeets B, Smeets D, Nelen M, Cremers CW, Ropers HH. Brunner HG, et al. Ann N Y Acad Sci. 1991;630:176-90. doi: 10.1111/j.1749-6632.1991.tb19586.x. Ann N Y Acad Sci. 1991. PMID: 1683204 Review. No abstract available.

7

Exclusion of the dysplastic nevus syndrome (DNS) locus from the short arm of chromosome 1 by linkage studies in Dutch families.

van Haeringen A, Bergman W, Nelen MR, van der Kooij-Meijs E, Hendrikse I, Wijnen JT, Khan PM, Klasen EC, Frants RR. van Haeringen A, et al. Among authors: nelen mr. Genomics. 1989 Jul;5(1):61-4. doi: 10.1016/0888-7543(89)90086-4. Genomics. 1989. PMID: 2504660

8

Familial Angelman syndrome with a crossover in the critical deletion region.

Nelen MR, Van der Burgt CJ, Nillesen WN, Vis A, Smeets HJ. Nelen MR, et al. Am J Med Genet. 1994 Sep 1;52(3):352-7. doi: 10.1002/ajmg.1320520320. Am J Med Genet. 1994. PMID: 7810569

9

Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A.

Brunner HG, Nelen M, Breakefield XO, Ropers HH, van Oost BA. Brunner HG, et al. Science. 1993 Oct 22;262(5133):578-80. doi: 10.1126/science.8211186. Science. 1993. PMID: 8211186

10

Identification of four novel mutations in the COL4A5 gene of patients with Alport syndrome.

Lemmink HH, Schröder CH, Brunner HG, Nelen MR, Zhou J, Tryggvason K, Haagsma-Schouten WA, Roodvoets AP, Rascher W, van Oost BA, et al. Lemmink HH, et al. Among authors: nelen mr. Genomics. 1993 Aug;17(2):485-9. doi: 10.1006/geno.1993.1351. Genomics. 1993. PMID: 8406498

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