Cooper DN - Search Results

1

Copy number variations in the NF1 gene region are infrequent and do not predispose to recurrent type-1 deletions.

Steinmann K, Kluwe L, Cooper DN, Brems H, De Raedt T, Legius E, Mautner VF, Kehrer-Sawatzki H. Steinmann K, et al. Among authors: cooper dn. Eur J Hum Genet. 2008 May;16(5):572-80. doi: 10.1038/sj.ejhg.5202002. Epub 2008 Jan 23. Eur J Hum Genet. 2008. PMID: 18212816

2

Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment.

Krawczak M, Cooper DN. Krawczak M, et al. Among authors: cooper dn. Hum Genet. 1991 Mar;86(5):425-41. doi: 10.1007/BF00194629. Hum Genet. 1991. PMID: 2016084

3

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

4

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

5

Molecular analysis of the 5'-flanking region of the neurofibromatosis type 1 (NF1) gene: identification of five sequence variants.

Osborn M, Cooper DN, Upadhyaya M. Osborn M, et al. Among authors: cooper dn. Clin Genet. 2000 Mar;57(3):221-4. doi: 10.1034/j.1399-0004.2000.570308.x. Clin Genet. 2000. PMID: 10782929

6

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

7

Evaluation of denaturing high performance liquid chromatography (DHPLC) for the mutational analysis of the neurofibromatosis type 1 ( NF1) gene.

Han SS, Cooper DN, Upadhyaya MN. Han SS, et al. Among authors: cooper dn. Hum Genet. 2001 Nov;109(5):487-97. doi: 10.1007/s004390100594. Epub 2001 Oct 11. Hum Genet. 2001. PMID: 11735023

8

Three different pathological lesions in the NF1 gene originating de novo in a family with neurofibromatosis type 1.

Upadhyaya M, Majounie E, Thompson P, Han S, Consoli C, Krawczak M, Cordeiro I, Cooper DN. Upadhyaya M, et al. Among authors: cooper dn. Hum Genet. 2003 Jan;112(1):12-7. doi: 10.1007/s00439-002-0840-1. Epub 2002 Oct 9. Hum Genet. 2003. PMID: 12483293

9

Breakpoint analysis of the pericentric inversion distinguishing human chromosome 4 from the homologous chromosome in the chimpanzee (Pan troglodytes).

Kehrer-Sawatzki H, Sandig C, Chuzhanova N, Goidts V, Szamalek JM, Tänzer S, Müller S, Platzer M, Cooper DN, Hameister H. Kehrer-Sawatzki H, et al. Among authors: cooper dn. Hum Mutat. 2005 Jan;25(1):45-55. doi: 10.1002/humu.20116. Hum Mutat. 2005. PMID: 15580561

10

Molecular characterisation of the pericentric inversion that distinguishes human chromosome 5 from the homologous chimpanzee chromosome.

Szamalek JM, Goidts V, Chuzhanova N, Hameister H, Cooper DN, Kehrer-Sawatzki H. Szamalek JM, et al. Among authors: cooper dn. Hum Genet. 2005 Jul;117(2-3):168-76. doi: 10.1007/s00439-005-1287-y. Epub 2005 May 10. Hum Genet. 2005. PMID: 15883840

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