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Items: 1 to 20 of 27


The Charcot-Marie-Tooth Functional Outcome Measure (CMT-FOM).

Eichinger K, Burns J, Cornett K, Bacon C, Shepherd ML, Mountain J, Sowden J, Shy R, Shy ME, Herrmann DN.

Neurology. 2018 Oct 9;91(15):e1381-e1384. doi: 10.1212/WNL.0000000000006323. Epub 2018 Sep 19.


Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2.

Lemmers RJ, van der Vliet PJ, Balog J, Goeman JJ, Arindrarto W, Krom YD, Straasheijm KR, Debipersad RD, Özel G, Sowden J, Snider L, Mul K, Sacconi S, van Engelen B, Tapscott SJ, Tawil R, van der Maarel SM.

Eur J Hum Genet. 2018 Jan;26(1):94-106. doi: 10.1038/s41431-017-0015-0. Epub 2017 Nov 21.


Clinical utility gene card for: Non-Syndromic Microphthalmia Including Next-Generation Sequencing-Based Approaches.

Richardson R, Sowden J, Gerth-Kahlert C, Moore AT, Moosajee M.

Eur J Hum Genet. 2017 Apr;25(4). doi: 10.1038/ejhg.2016.201. Epub 2017 Jan 18. No abstract available.


Patient Reported Falls and Balance Confidence in Individuals with Charcot-Marie-Tooth Disease.

Eichinger K, Odrzywolski K, Sowden J, Herrmann DN.

J Neuromuscul Dis. 2016 May 27;3(2):289-292.


Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease.

Cornett KM, Menezes MP, Bray P, Halaki M, Shy RR, Yum SW, Estilow T, Moroni I, Foscan M, Pagliano E, Pareyson D, Laurá M, Bhandari T, Muntoni F, Reilly MM, Finkel RS, Sowden J, Eichinger KJ, Herrmann DN, Shy ME, Burns J; Inherited Neuropathies Consortium.

JAMA Neurol. 2016 Jun 1;73(6):645-51. doi: 10.1001/jamaneurol.2016.0171.


Quality-of-life in Charcot-Marie-Tooth disease: the patient's perspective.

Johnson NE, Heatwole CR, Dilek N, Sowden J, Kirk CA, Shereff D, Shy ME, Herrmann DN; Inherited Neuropathies Consortium.

Neuromuscul Disord. 2014 Nov;24(11):1018-23. doi: 10.1016/j.nmd.2014.06.433. Epub 2014 Jun 27.


Prospective study of muscle cramps in Charcot-Marie-tooth disease.

Johnson NE, Sowden J, Dilek N, Eichinger K, Burns J, Mcdermott MP, Shy ME, Herrmann DN.

Muscle Nerve. 2015 Apr;51(4):485-8. doi: 10.1002/mus.24333. Epub 2015 Feb 11.


Characterisation and validation of insertions and deletions in 173 patient exomes.

Lescai F, Bonfiglio S, Bacchelli C, Chanudet E, Waters A, Sisodiya SM, Kasperavičiūtė D, Williams J, Harold D, Hardy J, Kleta R, Cirak S, Williams R, Achermann JC, Anderson J, Kelsell D, Vulliamy T, Houlden H, Wood N, Sheerin U, Tonini GP, Mackay D, Hussain K, Sowden J, Kinsler V, Osinska J, Brooks T, Hubank M, Beales P, Stupka E.

PLoS One. 2012;7(12):e51292. doi: 10.1371/journal.pone.0051292. Epub 2012 Dec 14.


Basal cell carcinoma masquerading as habit tic.

Shah D, Leopold G, Sowden J.

Clin Exp Dermatol. 2011 Dec;36(8):920. doi: 10.1111/j.1365-2230.2011.04096.x. No abstract available.


Gene expression during normal and FSHD myogenesis.

Tsumagari K, Chang SC, Lacey M, Baribault C, Chittur SV, Sowden J, Tawil R, Crawford GE, Ehrlich M.

BMC Med Genomics. 2011 Sep 27;4:67. doi: 10.1186/1755-8794-4-67.


DNaseI hypersensitivity at gene-poor, FSH dystrophy-linked 4q35.2.

Xu X, Tsumagari K, Sowden J, Tawil R, Boyle AP, Song L, Furey TS, Crawford GE, Ehrlich M.

Nucleic Acids Res. 2009 Dec;37(22):7381-93. doi: 10.1093/nar/gkp833.


Comprehensive expression analysis of FSHD candidate genes at the mRNA and protein level.

Klooster R, Straasheijm K, Shah B, Sowden J, Frants R, Thornton C, Tawil R, van der Maarel S.

Eur J Hum Genet. 2009 Dec;17(12):1615-24. doi: 10.1038/ejhg.2009.62. Epub 2009 Oct 7.


A family-based intervention to promote healthy lifestyles in an aboriginal community in Canada.

Anand SS, Davis AD, Ahmed R, Jacobs R, Xie C, Hill A, Sowden J, Atkinson S, Blimkie C, Brouwers M, Morrison K, de Koning L, Gerstein H, Yusuf S; SHARE-AP ACTION Investigators.

Can J Public Health. 2007 Nov-Dec;98(6):447-52.


Excision of malignant melanomas in North Wales: effect of location and surgeon on time to diagnosis and quality of excision.

Neal RD, Cannings-John R, Hood K, Sowden J, Lawrence H, Jones C, Jones J.

Fam Pract. 2008 Aug;25(4):221-7. doi: 10.1093/fampra/cmn036. Epub 2008 Jun 23.


Epigenetics of a tandem DNA repeat: chromatin DNaseI sensitivity and opposite methylation changes in cancers.

Tsumagari K, Qi L, Jackson K, Shao C, Lacey M, Sowden J, Tawil R, Vedanarayanan V, Ehrlich M.

Nucleic Acids Res. 2008 Apr;36(7):2196-207. doi: 10.1093/nar/gkn055. Epub 2008 Feb 16.


Regulation of the CA1, CA2 and CA3 genes.

Edwards Y, Drummond F, Sowden J.

EXS. 2000;(90):121-41. Review. No abstract available.


A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene.

Bitner-Glindzicz M, Lindley KJ, Rutland P, Blaydon D, Smith VV, Milla PJ, Hussain K, Furth-Lavi J, Cosgrove KE, Shepherd RM, Barnes PD, O'Brien RE, Farndon PA, Sowden J, Liu XZ, Scanlan MJ, Malcolm S, Dunne MJ, Aynsley-Green A, Glaser B.

Nat Genet. 2000 Sep;26(1):56-60.


Sequence comparisons and functional studies of the proximal promoter of the carbonic anhydrase 3 (CA3) gene.

Sowden J, Smith H, Morrison K, Edwards Y.

Gene. 1998 Jul 3;214(1-2):157-65.


Colon carbonic anhydrase 1: transactivation of gene expression by the homeodomain protein Cdx2.

Drummond FJ, Sowden J, Morrison K, Edwards YH.

FEBS Lett. 1998 Feb 20;423(2):218-22.


Genetic mapping of the human homologue (T) of mouse T(Brachyury) and a search for allele association between human T and spina bifida.

Morrison K, Papapetrou C, Attwood J, Hol F, Lynch SA, Sampath A, Hamel B, Burn J, Sowden J, Stott D, Mariman E, Edwards YH.

Hum Mol Genet. 1996 May;5(5):669-74.


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