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Emma Hilton
Emma Hilton
Verified email at manchester.ac.uk
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Year
Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature
TA Briggs, GI Rice, S Daly, J Urquhart, H Gornall, B Bader-Meunier, ...
Nature genetics 43 (2), 127-131, 2011
2582011
Mutations in GDF6 are associated with vertebral segmentation defects in Klippel‐Feil syndrome
M Tassabehji, ZM Fang, EN Hilton, J McGaughran, Z Zhao, CE de Bock, ...
Human mutation 29 (8), 1017-1027, 2008
2152008
Transgender women in the female category of sport: perspectives on testosterone suppression and performance advantage
EN Hilton, TR Lundberg
Sports Medicine 51, 199-214, 2021
1592021
Mutations in HPSE2 cause urofacial syndrome
SB Daly, JE Urquhart, E Hilton, EA McKenzie, RA Kammerer, M Lewis, ...
The American Journal of Human Genetics 86 (6), 963-969, 2010
1152010
Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency
S Banka, HJ Blom, J Walter, M Aziz, J Urquhart, CM Clouthier, GI Rice, ...
The American Journal of Human Genetics 88 (2), 216-225, 2011
1132011
BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects
E Hilton, J Johnston, S Whalen, N Okamoto, Y Hatsukawa, J Nishio, ...
European Journal of Human Genetics 17 (10), 1325-1335, 2009
1092009
The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1
D Hanson, PG Murray, A Sud, SA Temtamy, M Aglan, A Superti-Furga, ...
The American Journal of Human Genetics 84 (6), 801-806, 2009
1062009
LRIG2 mutations cause urofacial syndrome
HM Stuart, NA Roberts, B Burgu, SB Daly, JE Urquhart, S Bhaskar, ...
The American Journal of Human Genetics 92 (2), 259-264, 2013
862013
Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determination
EN Hilton, FDC Manson, JE Urquhart, JJ Johnston, AM Slavotinek, ...
Human molecular genetics 16 (14), 1773-1782, 2007
622007
Multiple interactions between maternally-activated signalling pathways control Xenopus nodal-related genes.
M Rex, E Hilton, R Old
International Journal of Developmental Biology 46 (2), 217-226, 2002
472002
Urinary tract effects of HPSE2 mutations
HM Stuart, NA Roberts, EN Hilton, EA McKenzie, SB Daly, KD Hadfield, ...
Journal of the American Society of Nephrology 26 (4), 797-804, 2015
372015
Lrig2 and Hpse2, mutated in urofacial syndrome, pattern nerves in the urinary bladder
NA Roberts, EN Hilton, FM Lopes, S Singh, MJ Randles, NJ Gardiner, ...
Kidney International 95 (5), 1138-1152, 2019
352019
VegT activation of the early zygotic gene Xnr5 requires lifting of Tcf-mediated repression in the Xenopus blastula
E Hilton, M Rex, R Old
Mechanisms of development 120 (10), 1127-1138, 2003
352003
Heparanase 2, mutated in urofacial syndrome, mediates peripheral neural development in Xenopus
NA Roberts, AS Woolf, HM Stuart, R Thuret, EA McKenzie, WG Newman, ...
Human Molecular Genetics 23 (16), 4302-4314, 2014
342014
The effect of pain conditioning on experimentally evoked cough: evidence of impaired endogenous inhibitory control mechanisms in refractory chronic cough
E Hilton, I Satia, K Holt, AA Woodcock, J Belcher, JA Smith
European Respiratory Journal 56 (6), 2020
282020
Urofacial syndrome: a genetic and congenital disease of aberrant urinary bladder innervation
AS Woolf, HM Stuart, NA Roberts, EA McKenzie, EN Hilton, WG Newman
Pediatric nephrology 29, 513-518, 2014
272014
The cataract-associated protein TMEM114, and TMEM235, are glycosylated transmembrane proteins that are distinct from claudin family members
GJ Maher, EN Hilton, JE Urquhart, AE Davidson, HL Spencer, GC Black, ...
FEBS letters 585 (14), 2187-2192, 2011
232011
De novo mutation in the BIGH3/TGFB1 gene causing granular corneal dystrophy
EN Hilton, GCM Black, FDC Manson, DF Schorderet, FL Munier
British journal of ophthalmology 91 (8), 1083-1084, 2007
132007
Experimental long-term diabetes mellitus alters the transcriptome and biomechanical properties of the rat urinary bladder
EA Hindi, CJ Williams, LAH Zeef, FM Lopes, K Newman, MMM Davey, ...
Scientific reports 11 (1), 15529, 2021
102021
The reality of sex
E Hilton, P Thompson, C Wright, D Curtis
Irish Journal of Medical Science (1971-) 190 (4), 1647-1647, 2021
92021
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