Trembath RC - Search Results

1

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: trembath rc. 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.

2

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: trembath rc. 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.

3

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: trembath rc. 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.

4

Promoter mutation is a common variant in GJC2-associated Pelizaeus-Merzbacher-like disease.

Meyer E, Kurian MA, Morgan NV, McNeill A, Pasha S, Tee L, Younis R, Norman A, van der Knaap MS, Wassmer E, Trembath RC, Brueton L, Maher ER. Meyer E, et al. Among authors: trembath rc. Mol Genet Metab. 2011 Dec;104(4):637-43. doi: 10.1016/j.ymgme.2011.08.032. Epub 2011 Sep 8. Mol Genet Metab. 2011. PMID: 21959080

5

A Novel ABCA12 Mutation in Two Families with Congenital Ichthyosis.

Walsh DM, Shah SH, Simpson MA, Morgan NV, Khaliq S, Trembath RC, Mehdi SQ, Maher ER. Walsh DM, et al. Among authors: trembath rc. Scientifica (Cairo). 2012;2012:649090. doi: 10.6064/2012/649090. Epub 2012 Dec 31. Scientifica (Cairo). 2012. PMID: 24278723 Free PMC article.

6

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.

Gorman KM, Meyer E, Grozeva D, Spinelli E, McTague A, Sanchis-Juan A, Carss KJ, Bryant E, Reich A, Schneider AL, Pressler RM, Simpson MA, Debelle GD, Wassmer E, Morton J, Sieciechowicz D, Jan-Kamsteeg E, Paciorkowski AR, King MD, Cross JH, Poduri A, Mefford HC, Scheffer IE, Haack TB, McCullagh G; Deciphering Developmental Disorders Study; UK10K Consortium; NIHR BioResource; Millichap JJ, Carvill GL, Clayton-Smith J, Maher ER, Raymond FL, Kurian MA. Gorman KM, et al. Am J Hum Genet. 2019 May 2;104(5):948-956. doi: 10.1016/j.ajhg.2019.03.005. Epub 2019 Apr 11. Am J Hum Genet. 2019. PMID: 30982612 Free PMC article.

7

The diagnosis of Liddle syndrome by identification of a mutation in the beta subunit of the epithelial sodium channel.

Jackson SN, Williams B, Houtman P, Trembath RC. Jackson SN, et al. Among authors: trembath rc. J Med Genet. 1998 Jun;35(6):510-2. doi: 10.1136/jmg.35.6.510. J Med Genet. 1998. PMID: 9643296 Free PMC article.

8

Pendred syndrome: evidence for genetic homogeneity and further refinement of linkage.

Gausden E, Coyle B, Armour JA, Coffey R, Grossman A, Fraser GR, Winter RM, Pembrey ME, Kendall-Taylor P, Stephens D, Luxon LM, Phelps PD, Reardon W, Trembath R. Gausden E, et al. J Med Genet. 1997 Feb;34(2):126-9. doi: 10.1136/jmg.34.2.126. J Med Genet. 1997. PMID: 9039988 Free PMC article.

9

Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration.

Arno G, Carss KJ, Hull S, Zihni C, Robson AG, Fiorentino A; UK Inherited Retinal Disease Consortium; Hardcastle AJ, Holder GE, Cheetham ME, Plagnol V; NIHR Bioresource - Rare Diseases Consortium; Moore AT, Raymond FL, Matter K, Balda MS, Webster AR. Arno G, et al. Am J Hum Genet. 2017 Feb 2;100(2):334-342. doi: 10.1016/j.ajhg.2016.12.014. Epub 2017 Jan 26. Am J Hum Genet. 2017. PMID: 28132693 Free PMC article.

10

Identification of a novel psoriasis susceptibility locus at 1p and evidence of epistasis between PSORS1 and candidate loci.

Veal CD, Clough RL, Barber RC, Mason S, Tillman D, Ferry B, Jones AB, Ameen M, Balendran N, Powis SH, Burden AD, Barker JN, Trembath RC. Veal CD, et al. Among authors: trembath rc. J Med Genet. 2001 Jan;38(1):7-13. doi: 10.1136/jmg.38.1.7. J Med Genet. 2001. PMID: 11134234 Free PMC article.

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