Nelen MR - Search Results

1

Localization of the gene for Cowden disease to chromosome 10q22-23.

Nelen MR, Padberg GW, Peeters EA, Lin AY, van den Helm B, Frants RR, Coulon V, Goldstein AM, van Reen MM, Easton DF, Eeles RA, Hodgsen S, Mulvihill JJ, Murday VA, Tucker MA, Mariman EC, Starink TM, Ponder BA, Ropers HH, Kremer H, Longy M, Eng C. Nelen MR, et al. Nat Genet. 1996 May;13(1):114-6. doi: 10.1038/ng0596-114. Nat Genet. 1996. PMID: 8673088 Free 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

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.

4

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.

5

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.

6

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.

7

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.

8

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

9

A Pro----Leu substitution in codon 369 of the alpha-1-antitrypsin deficiency variant PI MHeerlen.

Hofker MH, Nukiwa T, van Paassen HM, Nelen M, Kramps JA, Klasen EC, Frants RR, Crystal RG. Hofker MH, et al. Hum Genet. 1989 Feb;81(3):264-8. doi: 10.1007/BF00279001. Hum Genet. 1989. PMID: 2784123

10

Cloning and characterization of an alpha 1-antitrypsin like gene 12 KB downstream of the genuine alpha 1-antitrypsin gene.

Hofker MH, Nelen M, Klasen EC, Nukiwa T, Curiel D, Crystal RG, Frants RR. Hofker MH, et al. Biochem Biophys Res Commun. 1988 Sep 15;155(2):634-42. doi: 10.1016/s0006-291x(88)80542-4. Biochem Biophys Res Commun. 1988. PMID: 2901833

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