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Molecular analysis of neurofibromatosis type 1 mutations.
Weiming X, Yu Q, Lizhi L, Ponder M, Wallace M, Gangfeng X, Ponder B. Weiming X, et al. Hum Mutat. 1992;1(6):474-7. doi: 10.1002/humu.1380010604. Hum Mutat. 1992. PMID: 1301957
A TaqI polymorphism in the human NF1 gene.
Xu W, Liu L, Ponder M, Ponder BA. Xu W, et al. Nucleic Acids Res. 1991 Aug 25;19(16):4570. doi: 10.1093/nar/19.16.4570. Nucleic Acids Res. 1991. PMID: 1679535 Free PMC article.
Lay understanding of genetics: a test of a hypothesis.
Richards M, Ponder M. Richards M, et al. J Med Genet. 1996 Dec;33(12):1032-6. doi: 10.1136/jmg.33.12.1032. J Med Genet. 1996. PMID: 9004138 Free PMC article.
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. Hum Genet. 1998 May;102(5):591-7. doi: 10.1007/s004390050746. Hum Genet. 1998. PMID: 9654211
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. 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.
Linkage analysis of chromosome 17 markers in British and South African families with neurofibromatosis type I.
Mathew CG, Thorpe K, Easton DF, Chin KS, Jadayel D, Ponder M, Moore G, Wallis CE, Slater CP, De Jong G, et al. Mathew CG, et al. Am J Hum Genet. 1989 Jan;44(1):38-40. Am J Hum Genet. 1989. PMID: 2491780 Free PMC article.
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