Hutchin T - Search Results

1

Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) as a cause of liver disease in infants in the UK.

Hutchin T, Preece MA, Hendriksz C, Chakrapani A, McClelland V, Okumura F, Song YZ, Iijima M, Kobayashi K, Saheki T, McKiernan P, Baumann U. Hutchin T, et al. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S151-5. doi: 10.1007/s10545-009-1116-x. Epub 2009 Jun 11. J Inherit Metab Dis. 2009. PMID: 19517266

2

Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing.

Hutchin T, Coy NN, Conlon H, Telford E, Bromelow K, Blaydon D, Taylor G, Coghill E, Brown S, Trembath R, Liu XZ, Bitner-Glindzicz M, Mueller R. Hutchin T, et al. Clin Genet. 2005 Dec;68(6):506-12. doi: 10.1111/j.1399-0004.2005.00539.x. Clin Genet. 2005. PMID: 16283880

3

Fumarase deficiency caused by homozygous P131R mutation and paternal partial isodisomy of chromosome 1.

Zeng WQ, Gao H, Brueton L, Hutchin T, Gray G, Chakrapani A, Olpin S, Shih VE. Zeng WQ, et al. Among authors: hutchin t. Am J Med Genet A. 2006 May 1;140(9):1004-9. doi: 10.1002/ajmg.a.31186. Am J Med Genet A. 2006. PMID: 16575891

4

Mitochondrial DNA mutations in Alzheimer's disease.

Hutchin TP, Heath PR, Pearson RC, Sinclair AJ. Hutchin TP, et al. Biochem Biophys Res Commun. 1997 Dec 18;241(2):221-5. doi: 10.1006/bbrc.1997.7793. Biochem Biophys Res Commun. 1997. PMID: 9425253

5

Sensorineural hearing loss and the 1555G mitochondrial DNA mutation.

Hutchin T. Hutchin T. Acta Otolaryngol. 1999 Jan;119(1):48-52. doi: 10.1080/00016489950181927. Acta Otolaryngol. 1999. PMID: 10219384

6

Multiple origins of the mtDNA 7472insC mutation associated with hearing loss and neurological dysfunction.

Hutchin TP, Navarro-Coy NC, Van Camp G, Tiranti V, Zeviani M, Schuelke M, Jaksch M, Newton V, Mueller RF. Hutchin TP, et al. Eur J Hum Genet. 2001 May;9(5):385-7. doi: 10.1038/sj.ejhg.5200640. Eur J Hum Genet. 2001. PMID: 11378827

7

The contribution of USH1C mutations to syndromic and non-syndromic deafness in the UK.

Blaydon DC, Mueller RF, Hutchin TP, Leroy BP, Bhattacharya SS, Bird AC, Malcolm S, Bitner-Glindzicz M. Blaydon DC, et al. Among authors: hutchin tp. Clin Genet. 2003 Apr;63(4):303-7. doi: 10.1034/j.1399-0004.2003.00058.x. Clin Genet. 2003. PMID: 12702164

8

A novel mutation in the mitochondrial tRNA(Ser(UCN)) gene in a family with non-syndromic sensorineural hearing impairment.

Hutchin TP, Parker MJ, Young ID, Davis AC, Pulleyn LJ, Deeble J, Lench NJ, Markham AF, Mueller RF. Hutchin TP, et al. J Med Genet. 2000 Sep;37(9):692-4. doi: 10.1136/jmg.37.9.692. J Med Genet. 2000. PMID: 10978361 Free PMC article.

9

Maternally inherited hearing impairment in a family with the mitochondrial DNA A7445G mutation.

Hutchin TP, Lench NJ, Arbuzova S, Markham AF, Mueller RF. Hutchin TP, et al. Eur J Hum Genet. 2001 Jan;9(1):56-8. doi: 10.1038/sj.ejhg.5200581. Eur J Hum Genet. 2001. PMID: 11175301

10

Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus.

Verpy E, Masmoudi S, Zwaenepoel I, Leibovici M, Hutchin TP, Del Castillo I, Nouaille S, Blanchard S, Lainé S, Popot JL, Moreno F, Mueller RF, Petit C. Verpy E, et al. Among authors: hutchin tp. Nat Genet. 2001 Nov;29(3):345-9. doi: 10.1038/ng726. Nat Genet. 2001. PMID: 11687802

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