Cooper DN - Search Results

1

The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis.

Kehrer-Sawatzki H, Farschtschi S, Mautner VF, Cooper DN. Kehrer-Sawatzki H, et al. Among authors: cooper dn. Hum Genet. 2017 Feb;136(2):129-148. doi: 10.1007/s00439-016-1753-8. Epub 2016 Dec 5. Hum Genet. 2017. PMID: 27921248 Free PMC article. Review.

2

Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene.

Upadhyaya M, Osborn MJ, Maynard J, Kim MR, Tamanoi F, Cooper DN. Upadhyaya M, et al. Among authors: cooper dn. Hum Genet. 1997 Jan;99(1):88-92. doi: 10.1007/s004390050317. Hum Genet. 1997. PMID: 9003501

3

Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay.

Upadhyaya M, Ruggieri M, Maynard J, Osborn M, Hartog C, Mudd S, Penttinen M, Cordeiro I, Ponder M, Ponder BA, Krawczak M, Cooper DN. Upadhyaya M, et al. Among authors: cooper dn. Hum Genet. 1998 May;102(5):591-7. doi: 10.1007/s004390050746. Hum Genet. 1998. PMID: 9654211

4

Neighboring-nucleotide effects on the rates of germ-line single-base-pair substitution in human genes.

Krawczak M, Ball EV, Cooper DN. Krawczak M, et al. Among authors: cooper dn. Am J Hum Genet. 1998 Aug;63(2):474-88. doi: 10.1086/301965. Am J Hum Genet. 1998. PMID: 9683596 Free PMC article.

5

The molecular genetics of growth hormone deficiency.

Procter AM, Phillips JA 3rd, Cooper DN. Procter AM, et al. Among authors: cooper dn. Hum Genet. 1998 Sep;103(3):255-72. doi: 10.1007/s004390050815. Hum Genet. 1998. PMID: 9799079 Review.

6

Molecular analysis of the genotype-phenotype relationship in factor X deficiency.

Millar DS, Elliston L, Deex P, Krawczak M, Wacey AI, Reynaud J, Nieuwenhuis HK, Bolton-Maggs P, Mannucci PM, Reverter JC, Cachia P, Pasi KJ, Layton DM, Cooper DN. Millar DS, et al. Among authors: cooper dn. Hum Genet. 2000 Feb;106(2):249-57. doi: 10.1007/s004390051035. Hum Genet. 2000. PMID: 10746568

7

Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location.

Cheadle JP, Gill H, Fleming N, Maynard J, Kerr A, Leonard H, Krawczak M, Cooper DN, Lynch S, Thomas N, Hughes H, Hulten M, Ravine D, Sampson JR, Clarke A. Cheadle JP, et al. Among authors: cooper dn. Hum Mol Genet. 2000 Apr 12;9(7):1119-29. doi: 10.1093/hmg/9.7.1119. Hum Mol Genet. 2000. PMID: 10767337

8

Molecular genetic analysis of severe protein C deficiency.

Millar DS, Johansen B, Berntorp E, Minford A, Bolton-Maggs P, Wensley R, Kakkar V, Schulman S, Torres A, Bosch N, Cooper DN. Millar DS, et al. Among authors: cooper dn. Hum Genet. 2000 Jun;106(6):646-53. doi: 10.1007/s004390000315. Hum Genet. 2000. PMID: 10942114

9

Hypermethylation of the neurofibromatosis type 1 (NF1) gene promoter is not a common event in the inactivation of the NF1 gene in NF1-specific tumours.

Horan MP, Cooper DN, Upadhyaya M. Horan MP, et al. Among authors: cooper dn. Hum Genet. 2000 Jul;107(1):33-9. doi: 10.1007/s004390000322. Hum Genet. 2000. PMID: 10982032

10

Changes in primary DNA sequence complexity influence the phenotypic consequences of mutations in human gene regulatory regions.

Krawczak M, Chuzhanova NA, Stenson PD, Johansen BN, Ball EV, Cooper DN. Krawczak M, et al. Among authors: cooper dn. Hum Genet. 2000 Oct;107(4):362-5. doi: 10.1007/s004390000393. Hum Genet. 2000. PMID: 11129336

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