Maw MA - Search Results

1

A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome.

Bicknell LS, Pitt J, Aftimos S, Ramadas R, Maw MA, Robertson SP. Bicknell LS, et al. Among authors: maw ma. Eur J Hum Genet. 2008 Oct;16(10):1176-86. doi: 10.1038/ejhg.2008.91. Epub 2008 May 14. Eur J Hum Genet. 2008. PMID: 18478038

2

Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa.

Maw MA, Kennedy B, Knight A, Bridges R, Roth KE, Mani EJ, Mukkadan JK, Nancarrow D, Crabb JW, Denton MJ. Maw MA, et al. Nat Genet. 1997 Oct;17(2):198-200. doi: 10.1038/ng1097-198. Nat Genet. 1997. PMID: 9326942

3

The contribution of the DFNB1 locus to neurosensory deafness in a Caucasian population.

Maw MA, Allen-Powell DR, Goodey RJ, Stewart IA, Nancarrow DJ, Hayward NK, Gardner RJ. Maw MA, et al. Am J Hum Genet. 1995 Sep;57(3):629-35. Am J Hum Genet. 1995. PMID: 7668291 Free PMC article.

4

A frameshift mutation in prominin (mouse)-like 1 causes human retinal degeneration.

Maw MA, Corbeil D, Koch J, Hellwig A, Wilson-Wheeler JC, Bridges RJ, Kumaramanickavel G, John S, Nancarrow D, Röper K, Weigmann A, Huttner WB, Denton MJ. Maw MA, et al. Hum Mol Genet. 2000 Jan 1;9(1):27-34. doi: 10.1093/hmg/9.1.27. Hum Mol Genet. 2000. PMID: 10587575

5

Oguchi disease: suggestion of linkage to markers on chromosome 2q.

Maw MA, John S, Jablonka S, Müller B, Kumaramanickavel G, Oehlmann R, Denton MJ, Gal A. Maw MA, et al. J Med Genet. 1995 May;32(5):396-8. doi: 10.1136/jmg.32.5.396. J Med Genet. 1995. PMID: 7616550 Free PMC article.

6

Linkage of blepharophimosis syndrome in a large Indian pedigree to chromosome 7p.

Maw M, Kar B, Biswas J, Biswas P, Nancarrow D, Bridges R, Kumaramanickavel G, Denton M, Badrinath SS. Maw M, et al. Hum Mol Genet. 1996 Dec;5(12):2049-54. doi: 10.1093/hmg/5.12.2049. Hum Mol Genet. 1996. PMID: 8968762

7

A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation.

Hemara-Wahanui A, Berjukow S, Hope CI, Dearden PK, Wu SB, Wilson-Wheeler J, Sharp DM, Lundon-Treweek P, Clover GM, Hoda JC, Striessnig J, Marksteiner R, Hering S, Maw MA. Hemara-Wahanui A, et al. Among authors: maw ma. Proc Natl Acad Sci U S A. 2005 May 24;102(21):7553-8. doi: 10.1073/pnas.0501907102. Epub 2005 May 16. Proc Natl Acad Sci U S A. 2005. PMID: 15897456 Free PMC article.

8

Missense rhodopsin mutation in a family with recessive RP.

Kumaramanickavel G, Maw M, Denton MJ, John S, Srikumari CR, Orth U, Oehlmann R, Gal A. Kumaramanickavel G, et al. Nat Genet. 1994 Sep;8(1):10-1. doi: 10.1038/ng0994-10. Nat Genet. 1994. PMID: 7987385 No abstract available.

9

Mitochondrial A7445G mutation in two pedigrees with palmoplantar keratoderma and deafness.

Sevior KB, Hatamochi A, Stewart IA, Bykhovskaya Y, Allen-Powell DR, Fischel-Ghodsian N, Maw MA. Sevior KB, et al. Among authors: maw ma. Am J Med Genet. 1998 Jan 13;75(2):179-85. Am J Med Genet. 1998. PMID: 9450881

10

Two Indian siblings with Oguchi disease are homozygous for an arrestin mutation encoding premature termination.

Maw M, Kumaramanickavel G, Kar B, John S, Bridges R, Denton M. Maw M, et al. Hum Mutat. 1998;Suppl 1:S317-9. doi: 10.1002/humu.1380110199. Hum Mutat. 1998. PMID: 9452120 No abstract available.

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