FLT4/VEGFR3 and Milroy Disease: Novel Mutations, a Review of Published Variants and Database Update
Gordon, Kristiana, Spiden, Sarah L., Connell, Fiona C., Brice, Glen, Cottrell, Sally, Short, John, Taylor, Rohan, Jeffery, Steve, Mortimer, Peter S., Mansour, Sahar, Ostergaard, Pia
Published in Human mutation (01.01.2013)
Published in Human mutation (01.01.2013)
Get full text
Journal Article
The novel mouse mutation Oblivion inactivates the PMCA2 pump and causes progressive hearing loss
Spiden, Sarah L, Bortolozzi, Mario, Di Leva, Francesca, de Angelis, Martin Hrabé, Fuchs, Helmut, Lim, Dmitry, Ortolano, Saida, Ingham, Neil J, Brini, Marisa, Carafoli, Ernesto, Mammano, Fabio, Steel, Karen P
Published in PLoS genetics (01.10.2008)
Published in PLoS genetics (01.10.2008)
Get full text
Journal Article
Blood levels of kynurenines, interleukin-23 and soluble human leucocyte antigen-G at different stages of Huntington's disease
Forrest, Caroline M, Mackay, Gillian M, Stoy, Nicholas, Spiden, Sarah L, Taylor, Rohan, Stone, Trevor W, Darlington, L. Gail
Published in Journal of neurochemistry (2010)
Published in Journal of neurochemistry (2010)
Get full text
Journal Article
Normosmic idiopathic hypogonadotropic hypogonadism due to a novel GNRH1 variant in two siblings
Sagi, Satyanarayana V, Joshi, Hareesh, Whiles, Emily, Hikmat, Mondy, Puthi, Vijith R, MacDougall, Jane, Spiden, Sarah L, Fuller, Gavin, Park, Soo-Mi, Oyibo, Samson O
Published in Endocrinology, diabetes & metabolism case reports (05.03.2020)
Published in Endocrinology, diabetes & metabolism case reports (05.03.2020)
Get full text
Journal Article
A Sall4 mutant mouse model useful for studying the role of Sall4 in early embryonic development and organogenesis
Warren, Madhuri, Wang, Wei, Spiden, Sarah, Chen-Murchie, Dongrong, Tannahill, David, Steel, Karen P., Bradley, Allan
Published in Genesis (New York, N.Y. : 2000) (01.01.2007)
Published in Genesis (New York, N.Y. : 2000) (01.01.2007)
Get full text
Journal Article
FLT 4 / VEGFR 3 and Milroy Disease: Novel Mutations, a Review of Published Variants and Database Update
Gordon, Kristiana, Spiden, Sarah L., Connell, Fiona C., Brice, Glen, Cottrell, Sally, Short, John, Taylor, Rohan, Jeffery, Steve, Mortimer, Peter S., Mansour, Sahar, Ostergaard, Pia
Published in Human mutation (01.01.2013)
Published in Human mutation (01.01.2013)
Get full text
Journal Article
Mutanlallemand (mtl) and Belly Spot and Deafness (bsd) are two new mutations of Lmx1a causing severe cochlear and vestibular defects
Steffes, Georg, Lorente-Cánovas, Beatriz, Pearson, Selina, Brooker, Rachael H, Spiden, Sarah, Kiernan, Amy E, Guénet, Jean-Louis, Steel, Karen P
Published in PloS one (30.11.2012)
Published in PloS one (30.11.2012)
Get full text
Journal Article
Two quantitative trait loci affecting progressive hearing loss in 101/H mice
Mashimo, Tomoji, Erven, Alexandra E, Spiden, Sarah L, Guénet, Jean-Louis, Steel, Karen P
Published in Mammalian genome (01.08.2006)
Published in Mammalian genome (01.08.2006)
Get full text
Journal Article
Genetic testing for hereditary hyperparathyroidism and familial hypocalciuric hypercalcaemia in a large UK cohort
Mariathasan, Sashi, Andrews, Katrina A., Thompson, Edward, Challis, Ben G., Wilcox, Sarah, Pierce, Heather, Hale, Julia, Spiden, Sarah, Fuller, Gavin, Simpson, Helen L., Fish, Brian, Jani, Piyush, Seetho, Ian, Armstrong, Ruth, Izatt, Louise, Joshi, Mamta, Velusamy, Anand, Park, Soo‐Mi, Casey, Ruth T.
Published in Clinical endocrinology (Oxford) (01.10.2020)
Published in Clinical endocrinology (Oxford) (01.10.2020)
Get full text
Journal Article
The Novel Mouse Mutation Oblivion Inactivates the PMCA2 Pump and Causes Progressive Hearing Loss: e1000238
Spiden, Sarah L, Bortolozzi, Mario, Leva, Francesca Di, Angelis, Martin Hrabéde, Fuchs, Helmut, Lim, Dmitry, Ortolano, Saida, Ingham, Neil J, Brini, Marisa, Carafoli, Ernesto, Mammano, Fabio, Steel, Karen P
Published in PLoS genetics (01.10.2008)
Published in PLoS genetics (01.10.2008)
Get full text
Journal Article