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A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis.
Published in:
2017
By:
- Ahmed, Mustafa Y.;
- Al-Khayat, Aisha;
- Al-Murshedi, Fathiya;
- Al-Futaisi, Amna;
- Chioza, Barry A.;
- Fernandez-Murray, J. Pedro;
- Self, Jay E.;
- Salter, Claire G.;
- Harlalka, Gaurav V.;
- Rawlins, Lettie E.;
- Al-Zuhaibi, Sana;
- Al-Azri, Faisal;
- Al-Rashdi, Fatma;
- Cazenave-Gassiot, Amaury;
- Wenk, Markus R.;
- Al-Salmi, Fatema;
- Patton, Michael A.;
- Silver, David L.;
- Baple, Emma L.;
- McMaster, Christopher R.
Publication type:
journal article
A severe case of Bosch–Boonstra–Schaaf optic atrophy syndrome with a novel description of coloboma and septo‐optic dysplasia, owing to a start codon variant in the NR2F1 gene.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 900, doi. 10.1002/ajmg.a.62569
By:
- Gazdagh, Gabriella;
- Mawby, Rebecca;
- Self, Jay E.;
- Baralle, Diana
Publication type:
Article
Delineating the expanding phenotype associated with SCAPER gene mutation.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1665, doi. 10.1002/ajmg.a.61202
By:
- Fasham, James;
- Arno, Gavin;
- Lin, Siying;
- Xu, Mingchu;
- Carss, Keren J.;
- Hull, Sarah;
- Lane, Amelia;
- Robson, Anthony G.;
- Wenger, Olivia;
- Self, Jay E.;
- Harlalka, Gaurav V.;
- Salter, Claire G.;
- Schema, Lynn;
- Moss, Timothy J.;
- Cheetham, Michael E.;
- Moore, Anthony T.;
- Raymond, F. Lucy;
- Chen, Rui;
- Baple, Emma L.;
- Webster, Andrew R.
Publication type:
Article
Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B).
Published in:
NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-021-00275-9
By:
- Lin, Siying;
- Sanchez-Bretaño, Aida;
- Leslie, Joseph S.;
- Williams, Katie B.;
- Lee, Helena;
- Thomas, N. Simon;
- Callaway, Jonathan;
- Deline, James;
- Ratnayaka, J. Arjuna;
- Baralle, Diana;
- Schmitt, Melanie A.;
- Norman, Chelsea S.;
- Hammond, Sheri;
- Harlalka, Gaurav V.;
- Ennis, Sarah;
- Cross, Harold E.;
- Wenger, Olivia;
- Crosby, Andrew H.;
- Baple, Emma L.;
- Self, Jay E.
Publication type:
Article
A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping.
Published in:
Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-49368-7
By:
- O'Gorman, Luke;
- Norman, Chelsea S.;
- Michaels, Luke;
- Newall, Tutte;
- Crosby, Andrew H.;
- Mattocks, Christopher;
- Cree, Angela J.;
- Lotery, Andrew J.;
- Baple, Emma L.;
- Ratnayaka, J. Arjuna;
- Baralle, Diana;
- Lee, Helena;
- Osborne, Daniel;
- Shawkat, Fatima;
- Gibson, Jane;
- Ennis, Sarah;
- Self, Jay E.
Publication type:
Article
BBS5 and INPP5E mutations associated with ciliopathy disorders in families from Pakistan.
Published in:
Annals of Human Genetics, 2019, v. 83, n. 6, p. 477, doi. 10.1111/ahg.12336
By:
- Khan, Shazia;
- Lin, Siying;
- Harlalka, Gaurav V.;
- Ullah, Asmat;
- Shah, Khadim;
- Khalid, Sumbul;
- Mehmood, Sarmad;
- Hassan, Muhammad Jawad;
- Ahmad, Wasim;
- Self, Jay E.;
- Crosby, Andrew H.;
- Baple, Emma L.;
- Gul, Asma
Publication type:
Article
Comprehensive sequencing of the myocilin gene in a selected cohort of severe primary open-angle glaucoma patients.
Published in:
Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-019-38760-y
By:
- O’Gorman, Luke;
- Cree, Angela J.;
- Ward, Daniel;
- Griffiths, Helen L.;
- Sood, Roshan;
- Denniston, Alastair K.;
- Self, Jay E.;
- Ennis, Sarah;
- Lotery, Andrew J.;
- Gibson, Jane
Publication type:
Article
Atropine Penalization Versus Occlusion Therapies for Unilateral Amblyopia after the Critical Period of Visual Development: A Systematic Review.
Published in:
Ophthalmology & Therapy, 2018, v. 7, n. 2, p. 323, doi. 10.1007/s40123-018-0151-9
By:
- Osborne, Daniel C.;
- Greenhalgh, Kathryn M.;
- Evans, Megan J. E.;
- Self, Jay E.
Publication type:
Article
Characterization of the Frmd7 Knock-Out Mice Generated by the EUCOMM/COMP Repository as a Model for Idiopathic Infantile Nystagmus (IIN).
Published in:
Genes, 2020, v. 11, n. 10, p. 1157, doi. 10.3390/genes11101157
By:
- Salman, Ahmed;
- Hutton, Samuel B.;
- Newall, Tutte;
- Scott, Jennifer A.;
- Griffiths, Helen L.;
- Lee, Helena;
- Gomez-Nicola, Diego;
- Lotery, Andrew J.;
- Self, Jay E.
Publication type:
Article
Oral levodopa rescues retinal morphology and visual function in a murine model of human albinism.
Published in:
Pigment Cell & Melanoma Research, 2019, v. 32, n. 5, p. 657, doi. 10.1111/pcmr.12782
By:
- Lee, Helena;
- Scott, Jennifer;
- Griffiths, Helen;
- Self, Jay E.;
- Lotery, Andrew
Publication type:
Article
Human equivalent doses of l-DOPA rescues retinal morphology and visual function in a murine model of albinism.
Published in:
Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-44373-3
By:
- Sanchez-Bretano, Aida;
- Keeling, Eloise;
- Scott, Jennifer A.;
- Lynn, Savannah A.;
- Soundara-Pandi, Sudha Priya;
- Macdonald, Sarah L.;
- Newall, Tutte;
- Griffiths, Helen;
- Lotery, Andrew J.;
- Ratnayaka, J. Arjuna;
- Self, Jay E.;
- Lee, Helena
Publication type:
Article
Human equivalent doses of l-DOPA rescues retinal morphology and visual function in a murine model of albinism.
Published in:
Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-44373-3
By:
- Sanchez-Bretano, Aida;
- Keeling, Eloise;
- Scott, Jennifer A.;
- Lynn, Savannah A.;
- Soundara-Pandi, Sudha Priya;
- Macdonald, Sarah L.;
- Newall, Tutte;
- Griffiths, Helen;
- Lotery, Andrew J.;
- Ratnayaka, J. Arjuna;
- Self, Jay E.;
- Lee, Helena
Publication type:
Article

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