Maybaum TA - Search Results

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Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness.

Bech-Hansen NT, Naylor MJ, Maybaum TA, Sparkes RL, Koop B, Birch DG, Bergen AA, Prinsen CF, Polomeno RC, Gal A, Drack AV, Musarella MA, Jacobson SG, Young RS, Weleber RG. Bech-Hansen NT, et al. Among authors: maybaum ta. Nat Genet. 2000 Nov;26(3):319-23. doi: 10.1038/81619. Nat Genet. 2000. PMID: 11062471

Evidence for genetic heterogeneity in X-linked congenital stationary night blindness.

Boycott KM, Pearce WG, Musarella MA, Weleber RG, Maybaum TA, Birch DG, Miyake Y, Young RS, Bech-Hansen NT. Boycott KM, et al. Among authors: maybaum ta. Am J Hum Genet. 1998 Apr;62(4):865-75. doi: 10.1086/301781. Am J Hum Genet. 1998. PMID: 9529339 Free PMC article.

Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness.

Bech-Hansen NT, Naylor MJ, Maybaum TA, Pearce WG, Koop B, Fishman GA, Mets M, Musarella MA, Boycott KM. Bech-Hansen NT, et al. Among authors: maybaum ta. Nat Genet. 1998 Jul;19(3):264-7. doi: 10.1038/947. Nat Genet. 1998. PMID: 9662400

A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants.

Boycott KM, Maybaum TA, Naylor MJ, Weleber RG, Robitaille J, Miyake Y, Bergen AA, Pierpont ME, Pearce WG, Bech-Hansen NT. Boycott KM, et al. Among authors: maybaum ta. Hum Genet. 2001 Feb;108(2):91-7. doi: 10.1007/s004390100461. Hum Genet. 2001. PMID: 11281458

B cells selected for apoptosis in the sheep ileal Peyer's patch have enhanced mutational diversity in the Ig V lambda light chain.

Maybaum TA, Reynolds JD. Maybaum TA, et al. J Immunol. 1996 Aug 15;157(4):1474-84. J Immunol. 1996. PMID: 8759728

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