Casey R - Search Results

1

Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders.

Corzo D, Gibson W, Johnson K, Mitchell G, LePage G, Cox GF, Casey R, Zeiss C, Tyson H, Cutting GR, Raymond GV, Smith KD, Watkins PA, Moser AB, Moser HW, Steinberg SJ. Corzo D, et al. Among authors: casey r. Am J Hum Genet. 2002 Jun;70(6):1520-31. doi: 10.1086/340849. Epub 2002 Apr 29. Am J Hum Genet. 2002. PMID: 11992258 Free PMC article.

2

Myotonic dystrophy: tissue-specific effect of somatic CTG expansions on allele-specific DMAHP/SIX5 expression.

Korade-Mirnics Z, Tarleton J, Servidei S, Casey RR, Gennarelli M, Pegoraro E, Angelini C, Hoffman EP. Korade-Mirnics Z, et al. Among authors: casey rr. Hum Mol Genet. 1999 Jun;8(6):1017-23. doi: 10.1093/hmg/8.6.1017. Hum Mol Genet. 1999. PMID: 10332033

3

Early treatment of Menkes disease with parenteral copper-histidine: long-term follow-up of four treated patients.

Christodoulou J, Danks DM, Sarkar B, Baerlocher KE, Casey R, Horn N, Tümer Z, Clarke JT. Christodoulou J, et al. Among authors: casey r. Am J Med Genet. 1998 Mar 5;76(2):154-64. Am J Med Genet. 1998. PMID: 9511979

4

Heparin cofactor II-thrombin complex: a biomarker of MPS disease.

Randall DR, Colobong KE, Hemmelgarn H, Sinclair GB, Hetty E, Thomas A, Bodamer OA, Volkmar B, Fernhoff PM, Casey R, Chan AK, Mitchell G, Stockler S, Melancon S, Rupar T, Clarke LA. Randall DR, et al. Among authors: casey r. Mol Genet Metab. 2008 Aug;94(4):456-461. doi: 10.1016/j.ymgme.2008.05.001. Epub 2008 Jun 3. Mol Genet Metab. 2008. PMID: 18511319

5

Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter.

Camacho JA, Obie C, Biery B, Goodman BK, Hu CA, Almashanu S, Steel G, Casey R, Lambert M, Mitchell GA, Valle D. Camacho JA, et al. Among authors: casey r. Nat Genet. 1999 Jun;22(2):151-8. doi: 10.1038/9658. Nat Genet. 1999. PMID: 10369256

6

Molecular and clinical correlation study of Williams-Beuren syndrome: No evidence of molecular factors in the deletion region or imprinting affecting clinical outcome.

Wang MS, Schinzel A, Kotzot D, Balmer D, Casey R, Chodirker BN, Gyftodimou J, Petersen MB, Lopez-Rangel E, Robinson WP. Wang MS, et al. Among authors: casey r. Am J Med Genet. 1999 Sep 3;86(1):34-43. Am J Med Genet. 1999. PMID: 10440826

7

Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition.

Davey KM, Parboosingh JS, McLeod DR, Chan A, Casey R, Ferreira P, Snyder FF, Bridge PJ, Bernier FP. Davey KM, et al. Among authors: casey r. J Med Genet. 2006 May;43(5):385-93. doi: 10.1136/jmg.2005.036657. Epub 2005 Jul 31. J Med Genet. 2006. PMID: 16055927 Free PMC article.

8

Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease, type II.

McCready ME, Carson NL, Chakraborty P, Clarke JT, Callahan JW, Skomorowski MA, Chan AK, Bamforth F, Casey R, Rupar CA, Geraghty MT. McCready ME, et al. Among authors: casey r. Mol Genet Metab. 2007 Dec;92(4):325-35. doi: 10.1016/j.ymgme.2007.07.006. Epub 2007 Aug 27. Mol Genet Metab. 2007. PMID: 17723315

9

Thiamine-responsive megaloblastic anemia: identification of novel compound heterozygotes and mutation update.

Bergmann AK, Sahai I, Falcone JF, Fleming J, Bagg A, Borgna-Pignati C, Casey R, Fabris L, Hexner E, Mathews L, Ribeiro ML, Wierenga KJ, Neufeld EJ. Bergmann AK, et al. Among authors: casey r. J Pediatr. 2009 Dec;155(6):888-892.e1. doi: 10.1016/j.jpeds.2009.06.017. Epub 2009 Jul 29. J Pediatr. 2009. PMID: 19643445 Free PMC article.

10

Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): data from the Hunter Outcome Survey.

Mendelsohn NJ, Harmatz P, Bodamer O, Burton BK, Giugliani R, Jones SA, Lampe C, Malm G, Steiner RD, Parini R; Hunter Outcome Survey Investigators. Mendelsohn NJ, et al. Genet Med. 2010 Dec;12(12):816-22. doi: 10.1097/GIM.0b013e3181f6e74d. Genet Med. 2010. PMID: 21045710 Free article.

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