Mechan D[au] - Search Results

Year	Number of Results
1998	1
2001	1
2006	1
2008	1
2010	1
2011	3
2012	1
2022	0

1

Delayed diagnosis of oculopharyngeal muscular dystrophy in Scotland.

Agarwal PK, Mansfield DC, Mechan D, Al-Shahi Salman R, Davenport RJ, Connor M, Metcalfe R, Petty R. Agarwal PK, et al. Among authors: mechan d. Br J Ophthalmol. 2012 Feb;96(2):281-3. doi: 10.1136/bjo.2010.200378. Epub 2011 May 20. Br J Ophthalmol. 2012. PMID: 21602480

2

Ketoacidosis: an unusual presentation of MELAS.

Strachan J, McLellan A, Kirkpatrick M, Hume R, Mechan D. Strachan J, et al. Among authors: mechan d. J Inherit Metab Dis. 2001 Jun;24(3):409-10. doi: 10.1023/a:1010573122748. J Inherit Metab Dis. 2001. PMID: 11486908 No abstract available.

3

Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex.

García M, Santiago JL, Terrón A, Hernández-Martín A, Vicente A, Fortuny C, De Lucas R, López JC, Cuadrado-Corrales N, Holguín A, Illera N, Duarte B, Sánchez-Jimeno C, Llames S, García E, Ayuso C, Martínez-Santamaría L, Castiglia D, De Luca N, Torrelo A, Mechan D, Baty D, Zambruno G, Escámez MJ, Del Río M. García M, et al. Among authors: mechan d. Br J Dermatol. 2011 Sep;165(3):683-92. doi: 10.1111/j.1365-2133.2011.10428.x. Br J Dermatol. 2011. PMID: 21623745

4

Two cases of oculopharyngeal muscular dystrophy (OPMD) with the rare PABPN1 c.35G>C; p.Gly12Ala point mutation.

Robinson DO, Hilton-Jones D, Mansfield D, Hildebrand GD, Marks S, Mechan D, Ramsay J. Robinson DO, et al. Among authors: mechan d. Neuromuscul Disord. 2011 Nov;21(11):809-11. doi: 10.1016/j.nmd.2011.06.003. Epub 2011 Jul 13. Neuromuscul Disord. 2011. PMID: 21742497

5

Congenital disseminated neurofibromatosis type 1: a clinical and molecular case report.

Stewart H, Bowker C, Edees S, Smalley S, Crocker M, Mechan D, Forrester N, Spurlock G, Upadhyaya M. Stewart H, et al. Among authors: mechan d. Am J Med Genet A. 2008 Jun 1;146A(11):1444-52. doi: 10.1002/ajmg.a.32305. Am J Med Genet A. 2008. PMID: 18438896

6

Development of a multiplex ARMS test for mutations in the HFE gene associated with hereditary haemochromatosis.

Baty D, Terron Kwiatkowski A, Mechan D, Harris A, Pippard MJ, Goudie D. Baty D, et al. Among authors: mechan d. J Clin Pathol. 1998 Jan;51(1):73-4. doi: 10.1136/jcp.51.1.73. J Clin Pathol. 1998. PMID: 9577377 Free PMC article. Clinical Trial.

7

Renal carcinoma with giant mitochondria associated with germ-line mutation and somatic loss of the succinate dehydrogenase B gene.

Housley SL, Lindsay RS, Young B, McConachie M, Mechan D, Baty D, Christie L, Rahilly M, Qureshi K, Fleming S. Housley SL, et al. Among authors: mechan d. Histopathology. 2010 Feb;56(3):405-8. doi: 10.1111/j.1365-2559.2010.03482.x. Histopathology. 2010. PMID: 20459544 No abstract available.

8

Chromosomal changes in colorectal adenomas: relationship to gene mutations and potential for clinical utility.

Leslie A, Stewart A, Baty DU, Mechan D, McGreavey L, Smith G, Wolf CR, Sales M, Pratt NR, Steele RJ, Carey FA. Leslie A, et al. Among authors: mechan d. Genes Chromosomes Cancer. 2006 Feb;45(2):126-35. doi: 10.1002/gcc.20271. Genes Chromosomes Cancer. 2006. PMID: 16235243

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