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Items: 8


Alveolar capillary dysplasia with misalignment of the pulmonary veins and hypoplastic left heart sequence caused by an in frame deletion within FOXF1.

Bourque DK, Fonseca IC, Staines A, Teitelbaum R, Axford MM, Jobling R, Chiasson D, Chitayat D.

Am J Med Genet A. 2019 Jul;179(7):1325-1329. doi: 10.1002/ajmg.a.61162. Epub 2019 May 9.


Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders.

Jobling R, Stavropoulos DJ, Marshall CR, Cytrynbaum C, Axford MM, Londero V, Moalem S, Orr J, Rossignol F, Lopes FD, Gauthier J, Alos N, Rupps R, McKinnon M, Adam S, Nowaczyk MJM, Walker S, Scherer SW, Nassif C, Hamdan FF, Deal CL, Soucy JF, Weksberg R, Macleod P, Michaud JL, Chitayat D.

J Med Genet. 2018 May;55(5):316-321. doi: 10.1136/jmedgenet-2017-105222. Epub 2018 Mar 29.


Detection of slipped-DNAs at the trinucleotide repeats of the myotonic dystrophy type I disease locus in patient tissues.

Axford MM, Wang YH, Nakamori M, Zannis-Hadjopoulos M, Thornton CA, Pearson CE.

PLoS Genet. 2013;9(12):e1003866. doi: 10.1371/journal.pgen.1003866. Epub 2013 Dec 19.


Illuminating CNS and cognitive issues in myotonic dystrophy: Workshop report.

Axford MM, Pearson CE.

Neuromuscul Disord. 2013 Apr;23(4):370-4. doi: 10.1016/j.nmd.2013.01.003. Epub 2013 Mar 1. No abstract available.


ACVRL1 germinal mosaic with two mutant alleles in hereditary hemorrhagic telangiectasia associated with pulmonary arterial hypertension.

Eyries M, Coulet F, Girerd B, Montani D, Humbert M, Lacombe P, Chinet T, Gouya L, Roume J, Axford MM, Pearson CE, Soubrier F.

Clin Genet. 2012 Aug;82(2):173-9. doi: 10.1111/j.1399-0004.2011.01727.x. Epub 2011 Jul 13.


Replacement of the myotonic dystrophy type 1 CTG repeat with 'non-CTG repeat' insertions in specific tissues.

Axford MM, López-Castel A, Nakamori M, Thornton CA, Pearson CE.

J Med Genet. 2011 Jul;48(7):438-43. doi: 10.1136/jmg.2010.085944. Epub 2011 May 27.


CTCF cis-regulates trinucleotide repeat instability in an epigenetic manner: a novel basis for mutational hot spot determination.

Libby RT, Hagerman KA, Pineda VV, Lau R, Cho DH, Baccam SL, Axford MM, Cleary JD, Moore JM, Sopher BL, Tapscott SJ, Filippova GN, Pearson CE, La Spada AR.

PLoS Genet. 2008 Nov;4(11):e1000257. doi: 10.1371/journal.pgen.1000257. Epub 2008 Nov 14.


Neural stem cells from protein tyrosine phosphatase sigma knockout mice generate an altered neuronal phenotype in culture.

Kirkham DL, Pacey LK, Axford MM, Siu R, Rotin D, Doering LC.

BMC Neurosci. 2006 Jun 19;7:50.

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