Johnson CA - Search Results

1

Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome.

Aligianis IA, Johnson CA, Gissen P, Chen D, Hampshire D, Hoffmann K, Maina EN, Morgan NV, Tee L, Morton J, Ainsworth JR, Horn D, Rosser E, Cole TR, Stolte-Dijkstra I, Fieggen K, Clayton-Smith J, Mégarbané A, Shield JP, Newbury-Ecob R, Dobyns WB, Graham JM Jr, Kjaer KW, Warburg M, Bond J, Trembath RC, Harris LW, Takai Y, Mundlos S, Tannahill D, Woods CG, Maher ER. Aligianis IA, et al. Among authors: johnson ca. Nat Genet. 2005 Mar;37(3):221-3. doi: 10.1038/ng1517. Nat Genet. 2005. PMID: 15696165

2

Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2).

Aligianis IA, Forshew T, Johnson S, Michaelides M, Johnson CA, Trembath RC, Hunt DM, Moore AT, Maher ER. Aligianis IA, et al. Among authors: johnson s, johnson ca. J Med Genet. 2002 Sep;39(9):656-60. doi: 10.1136/jmg.39.9.656. J Med Genet. 2002. PMID: 12205108 Free PMC article.

3

A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24.

Morgan NV, Gissen P, Sharif SM, Baumber L, Sutherland J, Kelly DA, Aminu K, Bennett CP, Woods CG, Mueller RF, Trembath RC, Maher ER, Johnson CA. Morgan NV, et al. Among authors: johnson ca. Hum Genet. 2002 Oct;111(4-5):456-61. doi: 10.1007/s00439-002-0817-0. Epub 2002 Sep 7. Hum Genet. 2002. PMID: 12384791 Free article.

4

Molecular pathology and genetics of congenital hepatorenal fibrocystic syndromes.

Johnson CA, Gissen P, Sergi C. Johnson CA, et al. J Med Genet. 2003 May;40(5):311-9. doi: 10.1136/jmg.40.5.311. J Med Genet. 2003. PMID: 12746391 Free PMC article. Review.

5

A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13.

Morgan NV, Bacchelli C, Gissen P, Morton J, Ferrero GB, Silengo M, Labrune P, Casteels I, Hall C, Cox P, Kelly DA, Trembath RC, Scambler PJ, Maher ER, Goodman FR, Johnson CA. Morgan NV, et al. Among authors: johnson ca. J Med Genet. 2003 Jun;40(6):431-5. doi: 10.1136/jmg.40.6.431. J Med Genet. 2003. PMID: 12807964 Free PMC article.

6

Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome.

Gissen P, Johnson CA, Morgan NV, Stapelbroek JM, Forshew T, Cooper WN, McKiernan PJ, Klomp LW, Morris AA, Wraith JE, McClean P, Lynch SA, Thompson RJ, Lo B, Quarrell OW, Di Rocco M, Trembath RC, Mandel H, Wali S, Karet FE, Knisely AS, Houwen RH, Kelly DA, Maher ER. Gissen P, et al. Among authors: johnson ca. Nat Genet. 2004 Apr;36(4):400-4. doi: 10.1038/ng1325. Epub 2004 Mar 28. Nat Genet. 2004. PMID: 15052268

7

Comparative evolutionary analysis of VPS33 homologues: genetic and functional insights.

Gissen P, Johnson CA, Gentle D, Hurst LD, Doherty AJ, O'Kane CJ, Kelly DA, Maher ER. Gissen P, et al. Among authors: johnson ca. Hum Mol Genet. 2005 May 15;14(10):1261-70. doi: 10.1093/hmg/ddi137. Epub 2005 Mar 24. Hum Mol Genet. 2005. PMID: 15790593

8

Identification of a novel mutation disrupting the DNA binding activity of GCM2 in autosomal recessive familial isolated hypoparathyroidism.

Baumber L, Tufarelli C, Patel S, King P, Johnson CA, Maher ER, Trembath RC. Baumber L, et al. Among authors: johnson ca. J Med Genet. 2005 May;42(5):443-8. doi: 10.1136/jmg.2004.026898. J Med Genet. 2005. PMID: 15863676 Free PMC article. No abstract available.

9

Locus heterogeneity in autosomal recessive congenital cataracts: linkage to 9q and germline HSF4 mutations.

Forshew T, Johnson CA, Khaliq S, Pasha S, Willis C, Abbasi R, Tee L, Smith U, Trembath RC, Mehdi SQ, Moore AT, Maher ER. Forshew T, et al. Among authors: johnson ca. Hum Genet. 2005 Sep;117(5):452-9. doi: 10.1007/s00439-005-1309-9. Epub 2005 Jun 16. Hum Genet. 2005. PMID: 15959809

10

Identification of novel TYR and TYRP1 mutations in oculocutaneous albinism.

Forshew T, Khaliq S, Tee L, Smith U, Johnson CA, Mehdi SQ, Maher ER. Forshew T, et al. Among authors: johnson ca. Clin Genet. 2005 Aug;68(2):182-4. doi: 10.1111/j.1399-0004.2005.00460.x. Clin Genet. 2005. PMID: 15996218 No abstract available.

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