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Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype.
Ostergaard P, Simpson MA, Brice G, Mansour S, Connell FC, Onoufriadis A, Child AH, Hwang J, Kalidas K, Mortimer PS, Trembath R, Jeffery S. Ostergaard P, et al. Among authors: trembath r. J Med Genet. 2011 Apr;48(4):251-5. doi: 10.1136/jmg.2010.085563. Epub 2011 Jan 25. J Med Genet. 2011. PMID: 21266381
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.
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. Among authors: trembath r. 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.
Germline CDH1 mutations in bilateral lobular carcinoma in situ.
Petridis C, Shinomiya I, Kohut K, Gorman P, Caneppele M, Shah V, Troy M, Pinder SE, Hanby A, Tomlinson I, Trembath RC, Roylance R, Simpson MA, Sawyer EJ. Petridis C, et al. Among authors: trembath rc. Br J Cancer. 2014 Feb 18;110(4):1053-7. doi: 10.1038/bjc.2013.792. Epub 2013 Dec 24. Br J Cancer. 2014. PMID: 24366306 Free PMC article.
Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-beta family.
Thomson JR, Machado RD, Pauciulo MW, Morgan NV, Humbert M, Elliott GC, Ward K, Yacoub M, Mikhail G, Rogers P, Newman J, Wheeler L, Higenbottam T, Gibbs JS, Egan J, Crozier A, Peacock A, Allcock R, Corris P, Loyd JE, Trembath RC, Nichols WC. Thomson JR, et al. Among authors: trembath rc. J Med Genet. 2000 Oct;37(10):741-5. doi: 10.1136/jmg.37.10.741. J Med Genet. 2000. PMID: 11015450 Free PMC article.
382 results