Maynard J - Search Results

1

A cytogenetic deletion, del(17)(q11.22q21.1), in a patient with sporadic neurofibromatosis type 1 (NF1) associated with dysmorphism and developmental delay.

Upadhyaya M, Roberts SH, Maynard J, Sorour E, Thompson PW, Vaughan M, Wilkie AO, Hughes HE. Upadhyaya M, et al. Among authors: maynard j. J Med Genet. 1996 Feb;33(2):148-52. doi: 10.1136/jmg.33.2.148. J Med Genet. 1996. PMID: 8929953 Free PMC article.

2

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: maynard j. 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.

3

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: maynard j. 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

4

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

5

Characterization and significance of nine novel mutations in exon 16 of the neurofibromatosis type 1 (NF1) gene.

Maynard J, Krawczak M, Upadhyaya M. Maynard J, et al. Hum Genet. 1997 May;99(5):674-6. doi: 10.1007/s004390050427. Hum Genet. 1997. PMID: 9150739

6

Analysis of mutations at the neurofibromatosis 1 (NF1) locus.

Upadhyaya M, Shen M, Cherryson A, Farnham J, Maynard J, Huson SM, Harper PS. Upadhyaya M, et al. Among authors: maynard j. Hum Mol Genet. 1992 Dec;1(9):735-40. doi: 10.1093/hmg/1.9.735. Hum Mol Genet. 1992. PMID: 1302608

7

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: maynard j. Am J Med Genet. 1995 Jun 19;60(3):244-51. doi: 10.1002/ajmg.1320600315. Am J Med Genet. 1995. PMID: 7573180

8

Molecular analysis of British facioscapulohumeral dystrophy families for 4q DNA rearrangements.

Upadhyaya M, Jardine P, Maynard J, Farnham J, Sarfarazi M, Wijmenga C, Hewitt JE, Frants R, Harper PS, Lunt PW. Upadhyaya M, et al. Among authors: maynard j. Hum Mol Genet. 1993 Jul;2(7):981-7. doi: 10.1093/hmg/2.7.981. Hum Mol Genet. 1993. PMID: 8364581

9

Improved molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD): validation of the differential double digestion for FSHD.

Upadhyaya M, Maynard J, Rogers MT, Lunt PW, Jardine P, Ravine D, Harper PS. Upadhyaya M, et al. Among authors: maynard j. J Med Genet. 1997 Jun;34(6):476-9. doi: 10.1136/jmg.34.6.476. J Med Genet. 1997. PMID: 9192267 Free PMC article.

10

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

Upadhyaya M, Maynard J, Osborn M, Harper PS. Upadhyaya M, et al. Among authors: maynard j. 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.

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