Brown RM - Search Results

1

Brown GK, Otero LJ, LeGris M, Brown RM. Brown GK, et al. Among authors: brown rm. J Med Genet. 1994 Nov;31(11):875-9. doi: 10.1136/jmg.31.11.875. J Med Genet. 1994. PMID: 7853374 Free PMC article. Review. No abstract available.

2

Pyruvate dehydrogenase E3 binding protein deficiency.

Brown RM, Head RA, Brown GK. Brown RM, et al. Among authors: brown gk. Hum Genet. 2002 Feb;110(2):187-91. doi: 10.1007/s00439-001-0665-3. Epub 2002 Jan 22. Hum Genet. 2002. PMID: 11935326

3

Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiency.

Brown RM, Head RA, Boubriak II, Leonard JV, Thomas NH, Brown GK. Brown RM, et al. Among authors: brown gk. Hum Genet. 2004 Jul;115(2):123-7. doi: 10.1007/s00439-004-1124-8. Epub 2004 May 11. Hum Genet. 2004. PMID: 15138885

4

Somatic mosaicism for a PDHA1 mutation in a female with pyruvate dehydrogenase deficiency.

Ridout CK, Brown RM, Walter JH, Brown GK. Ridout CK, et al. Among authors: brown rm, brown gk. Hum Genet. 2008 Sep;124(2):187-93. doi: 10.1007/s00439-008-0538-0. Epub 2008 Aug 17. Hum Genet. 2008. PMID: 18709504

5

Neurodevelopmental abnormalities and lactic acidosis in a girl with a 20-bp deletion in the X-linked pyruvate dehydrogenase E1 alpha subunit gene.

Matthews PM, Brown RM, Otero L, Marchington D, Leonard JV, Brown GK. Matthews PM, et al. Among authors: brown rm, brown gk. Neurology. 1993 Oct;43(10):2025-30. doi: 10.1212/wnl.43.10.2025. Neurology. 1993. PMID: 7692352

6

Prenatal diagnosis of pyruvate dehydrogenase E1 alpha subunit deficiency.

Brown RM, Brown GK. Brown RM, et al. Among authors: brown gk. Prenat Diagn. 1994 Jun;14(6):435-41. doi: 10.1002/pd.1970140604. Prenat Diagn. 1994. PMID: 7937579

7

Pyruvate dehydrogenase deficiency. Clinical presentation and molecular genetic characterization of five new patients.

Matthews PM, Brown RM, Otero LJ, Marchington DR, LeGris M, Howes R, Meadows LS, Shevell M, Scriver CR, Brown GK. Matthews PM, et al. Among authors: brown rm, brown gk. Brain. 1994 Jun;117 ( Pt 3):435-43. doi: 10.1093/brain/117.3.435. Brain. 1994. PMID: 8032855

8

X chromosome inactivation and the diagnosis of X linked disease in females.

Brown RM, Brown GK. Brown RM, et al. Among authors: brown gk. J Med Genet. 1993 Mar;30(3):177-84. doi: 10.1136/jmg.30.3.177. J Med Genet. 1993. PMID: 8097254 Free PMC article.

9

Comparison of the relative levels of the 3243 (A-->G) mtDNA mutation in heteroplasmic adult and fetal tissues.

Matthews PM, Hopkin J, Brown RM, Stephenson JB, Hilton-Jones D, Brown GK. Matthews PM, et al. Among authors: brown rm, brown gk. J Med Genet. 1994 Jan;31(1):41-4. doi: 10.1136/jmg.31.1.41. J Med Genet. 1994. PMID: 8151636 Free PMC article.

10

Transfection screening for primary defects in the pyruvate dehydrogenase E1alpha subunit gene.

Brown RM, Otero LJ, Brown GK. Brown RM, et al. Among authors: brown gk. Hum Mol Genet. 1997 Aug;6(8):1361-7. doi: 10.1093/hmg/6.8.1361. Hum Mol Genet. 1997. PMID: 9259285

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