Osborn M - Search Results

1

Six novel mutations in the neurofibromatosis type 1 (NF1) gene.

Upadhyaya M, Maynard J, Osborn M, Harper PS. Upadhyaya M, et al. Among authors: osborn m. Hum Mutat. 1997;10(3):248-50. doi: 10.1002/(SICI)1098-1004(1997)10:3<248::AID-HUMU14>3.0.CO;2-#. Hum Mutat. 1997. PMID: 9298829 No abstract available.

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: osborn mj. Hum Genet. 1997 Jan;99(1):88-92. doi: 10.1007/s004390050317. Hum Genet. 1997. PMID: 9003501

3

Evaluation of the protein truncation test and mutation detection in the NF1 gene: mutational analysis of 15 known and 40 unknown mutations.

Osborn MJ, Upadhyaya M. Osborn MJ, et al. Hum Genet. 1999 Oct;105(4):327-32. doi: 10.1007/s004399900135. Hum Genet. 1999. PMID: 10543400

4

Characterisation of germline mutations in the neurofibromatosis type 1 (NF1) gene.

Upadhyaya M, Maynard J, Osborn M, Huson SM, Ponder M, Ponder BA, Harper PS. Upadhyaya M, et al. Among authors: osborn m. J Med Genet. 1995 Sep;32(9):706-10. doi: 10.1136/jmg.32.9.706. J Med Genet. 1995. PMID: 8544190 Free PMC article.

5

Characterization of six mutations in exon 37 of neurofibromatosis type 1 gene.

Upadhyaya M, Osborn M, Maynard J, Harper P. Upadhyaya M, et al. Among authors: osborn m. Am J Med Genet. 1996 Jul 26;67(4):421-3. doi: 10.1002/(SICI)1096-8628(19960726)67:4<421::AID-AJMG20>3.0.CO;2-K. Am J Med Genet. 1996. PMID: 8837715

6

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: osborn m. Hum Genet. 1998 May;102(5):591-7. doi: 10.1007/s004390050746. Hum Genet. 1998. PMID: 9654211

7

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. Clin Genet. 2000 Mar;57(3):221-4. doi: 10.1034/j.1399-0004.2000.570308.x. Clin Genet. 2000. PMID: 10782929

8

Detection of NF1 mutations utilizing the protein truncation test (PTT).

Upadhyaya M, Osborn M, Cooper DN. Upadhyaya M, et al. Among authors: osborn m. Methods Mol Biol. 2003;217:315-27. doi: 10.1385/1-59259-330-5:315. Methods Mol Biol. 2003. PMID: 12491944 No abstract available.

9

Functional analysis of polymorphic variation within the promoter and 5' untranslated region of the neurofibromatosis type 1 (NF1) gene.

Horan MP, Osborn M, Cooper DN, Upadhyaya M. Horan MP, et al. Among authors: osborn m. Am J Med Genet A. 2004 Dec 15;131(3):227-31. doi: 10.1002/ajmg.a.30358. Am J Med Genet A. 2004. PMID: 15523626

10

Towards the finer mapping of facioscapulohumeral muscular dystrophy at 4q35: construction of a laser microdissection library.

Upadhyaya M, Osborn M, Maynard J, Altherr M, Ikeda J, Harper PS. Upadhyaya M, et al. Among authors: osborn m. Am J Med Genet. 1995 Jun 19;60(3):244-51. doi: 10.1002/ajmg.1320600315. Am J Med Genet. 1995. PMID: 7573180

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