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Book reviews.
Published in:
2000
By:
- Halford, Stephanie
Publication type:
Book Review
Hypotrichosis and juvenile macular dystrophy caused by CDH3 mutation: A candidate disease for retinal gene therapy.
Published in:
Scientific Reports, 2016, p. 23674, doi. 10.1038/srep23674
By:
- Singh, Mandeep S.;
- Broadgate, Suzanne;
- Mathur, Ranjana;
- Holt, Richard;
- Halford, Stephanie;
- MacLaren, Robert E.
Publication type:
Article
Differential Expression of Melanopsin Isoforms Opn4L and Opn4S during Postnatal Development of the Mouse Retina.
Published in:
PLoS ONE, 2012, v. 7, n. 4, p. 1, doi. 10.1371/journal.pone.0034531
By:
- Hughes, Steven;
- Welsh, Laura;
- Katti, Christiana;
- González-Menéndez, Irene;
- Turton, Michael;
- Halford, Stephanie;
- Sekaran, Sumathi;
- Peirson, Stuart N.;
- Hankins, Mark W.;
- Foster, Russell G.
Publication type:
Article
Analysis of Multiple Data Sets Reveals No Association between the Insulin Gene Variable Number Tandem Repeat Element and Polycystic Ovary Syndrome or Related Traits.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2005, v. 90, n. 5, p. 2988, doi. 10.1210/jc.2004-2485
By:
- Powell, Brenda L.;
- Haddad, Lema;
- Bennett, Amanda;
- Gharani, Neda;
- Sovio, Ulla;
- Groves, Christopher J.;
- Rush, Karen;
- Goh, Micaela J.;
- Conway, Gerard S.;
- Ruokonen, Aimo;
- Martikainen, Hannu;
- Pouta, Anneli;
- Taponen, Saara;
- Hartikainen, Anna-Liisa;
- Halford, Stephanie;
- Zeggini, Eleftheria;
- Järvelin, Marjo-Riitta;
- Franks, Steve;
- McCarthy, Mark I.
Publication type:
Article
Large-Scale Analysis of the Relationship between CYP11A Promoter Variation, Polycystic Ovarian Syndrome, and Serum Testosterone.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2004, v. 89, n. 5, p. 2408, doi. 10.1210/jc.2003-031640
By:
- GAASENBEEK, MICHELLE;
- POWELL, BRENDA L.;
- SOVIO, ULLA;
- HADDAD, LEMA;
- GHARANI, NEDA;
- BENNETT, AMANDA;
- GROVES, CHRISTOPHER J.;
- RUSH, KAREN;
- GOH, MICAELA J.;
- CONWAY, GERARD S.;
- RUOKONEN, AIMO;
- MARTIKAINEN, HANNU;
- POUTA, ANNELI;
- TAPONEN, SAARA;
- HARTIKAINEN, ANNA-LIISA;
- HALFORD, STEPHANIE;
- JÄRVELIN, MARJO-RIITTA;
- FRANKS, STEVE;
- MCCARTHY, MARK I.
Publication type:
Article
Differential Expression of Two Distinct Functional Isoforms of Melanopsin (Opn4) in the Mammalian Retina.
Published in:
Journal of Neuroscience, 2009, v. 29, n. 39, p. 12332, doi. 10.1523/JNEUROSCI.2036-09.2009
By:
- Pires, Susana S.;
- Hughes, Steven;
- Turton, Michael;
- Melyan, Zare;
- Peirson, Stuart N.;
- Lei Zheng;
- Kosmaoglou, Maria;
- Bellingham, James;
- Cheetham, Michael E.;
- Lucas, Robert J.;
- Foster, Russell G.;
- Hankins, Mark W.;
- Halford, Stephanie
Publication type:
Article
Intraretinal Microvascular Abnormalities and Venous Beading Have Different Genetic Profiles in Caucasian Patients with Non-Proliferative Diabetic Retinopathy.
Published in:
Vision (2411-5150), 2023, v. 7, n. 1, p. 18, doi. 10.3390/vision7010018
By:
- Pearce, Elizabeth;
- Sivaprasad, Sobha;
- Broadgate, Suzanne;
- Kiire, Christine;
- Downes, Susan M.;
- Halford, Stephanie;
- Chong, Victor
Publication type:
Article
The role of multimodal imaging and vision function testing in ABCA4 -related retinopathies and their relevance to future therapeutic interventions.
Published in:
Therapeutic Advances in Ophthalmology, 2021, p. 1, doi. 10.1177/25158414211056384
By:
- Al-Khuzaei, Saoud;
- Shah, Mital;
- Foster, Charlotte R.;
- Yu, Jing;
- Broadgate, Suzanne;
- Halford, Stephanie;
- Downes, Susan M.
Publication type:
Article
Association of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations.
Published in:
2020
By:
- Shah, Mital;
- Broadgate, Suzanne;
- Shanks, Morag;
- Clouston, Penny;
- Yu, Jing;
- MacLaren, Robert E.;
- Németh, Andrea H.;
- Halford, Stephanie;
- Downes, Susan M.
Publication type:
journal article
Characterization of CDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy.
Published in:
2016
By:
- Hull, Sarah;
- Arno, Gavin;
- Robson, Anthony G.;
- Broadgate, Suzanne;
- Plagnol, Vincent;
- McKibbin, Martin;
- Halford, Stephanie;
- Michaelides, Michel;
- Holder, Graham E.;
- Moore, Anthony T.;
- Khan, Kamron N.;
- Webster, Andrew R.
Publication type:
journal article
Variation at the IRF2 Gene and Susceptibility to Psoriasis in Chromosome 4q-Linked Families.
Published in:
Journal of Investigative Dermatology, 2004, v. 122, n. 3, p. 640, doi. 10.1046/j.0022-202X.2004.22135.x
By:
- Parkinson, James;
- Charon, Celine;
- Baker, Barbara S.;
- Powles, Anne V.;
- Rogers, Sarah;
- Caird, Ann;
- Smedley, Damian;
- Halford, Stephanie;
- Fry, Lionel;
- McCarthy, Mark I.
Publication type:
Article
Targeted deletion of an NRL- and CRX-regulated alternative promoter specifically silences FERM and PDZ domain containing 1 (Frmpd1) in rod photoreceptors.
Published in:
Human Molecular Genetics, 2019, v. 28, n. 5, p. 804, doi. 10.1093/hmg/ddy388
By:
- Campla, Christie K;
- Mast, Hannah;
- Dong, Lijin;
- Lei, Jingqi;
- Halford, Stephanie;
- Sekaran, Sumathi;
- Swaroop, Anand
Publication type:
Article
Diabetic macular oedema: under-represented in the genetic analysis of diabetic retinopathy.
Published in:
Acta Ophthalmologica (1755375X), 2018, v. 96, p. 1, doi. 10.1111/aos.13678
By:
- Broadgate, Suzanne;
- Kiire, Christine;
- Halford, Stephanie;
- Chong, Victor
Publication type:
Article
Functional diversity of melanopsins and their global expression in the teleost retina.
Published in:
Cellular & Molecular Life Sciences, 2011, v. 68, n. 24, p. 4115, doi. 10.1007/s00018-011-0785-4
By:
- Davies, Wayne;
- Zheng, Lei;
- Hughes, Steven;
- Tamai, T.;
- Turton, Michael;
- Halford, Stephanie;
- Foster, Russell;
- Whitmore, David;
- Hankins, Mark
Publication type:
Article
Association studies of insulin receptor substrate 1 gene (IRS1) variants in type 2 diabetes samples enriched for family history and early age of onset.
Published in:
2004
By:
- Zeggini, Eleftheria;
- Parkinson, James;
- Halford, Stephanie;
- Owen, Katharine R.;
- Frayling, Timothy M.;
- Walker, Mark;
- Hitman, Graham A.;
- Levy, Jonathan C.;
- Sampson, Mike J.;
- Feskens, Edith J.M.;
- Hattersley, Andrew T.;
- McCarthy, Mark I.
Publication type:
journal article
Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes.
Published in:
2003
By:
- Gloyn, Anna L.;
- Weedon, Michael N.;
- Owen, Katharine R.;
- Turner, Martina J.;
- Knight, Bridget A.;
- Hitman, Graham;
- Walker, Mark;
- Levy, Jonathan C.;
- Sampson, Mike;
- Halford, Stephanie;
- McCarthy, Mark I.;
- Hattersley, Andrew T.;
- Frayling, Timothy M.
Publication type:
journal article
A Carrier Female Manifesting an Unusual X-Linked Retinoschisis Phenotype Associated with the Pathogenic Variant c.266delA, p.(Tyr89LeufsTer37) in RS1 , and Skewed X-Inactivation.
Published in:
2023
By:
- Kirkby, Jennifer;
- Halford, Stephanie;
- Shanks, Morag;
- Moore, Anthony;
- Gait, Anthony;
- Jenkins, Lucy;
- Clouston, Penny;
- Patel, Chetan K.;
- Downes, Susan M.
Publication type:
Case Study
Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes.
Published in:
Genes, 2022, v. 13, n. 8, p. 1423, doi. 10.3390/genes13081423
By:
- Feenstra, Helena M.;
- Al-Khuzaei, Saoud;
- Shah, Mital;
- Broadgate, Suzanne;
- Shanks, Morag;
- Kamath, Archith;
- Yu, Jing;
- Jolly, Jasleen K.;
- MacLaren, Robert E.;
- Clouston, Penny;
- Halford, Stephanie;
- Downes, Susan M.
Publication type:
Article
An Overview of the Genetics of ABCA4 Retinopathies, an Evolving Story.
Published in:
Genes, 2021, v. 12, n. 8, p. 1241, doi. 10.3390/genes12081241
By:
- Al-Khuzaei, Saoud;
- Broadgate, Suzanne;
- Foster, Charlotte R.;
- Shah, Mital;
- Yu, Jing;
- Downes, Susan M.;
- Halford, Stephanie
Publication type:
Article
Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL.
Published in:
Genes, 2020, v. 11, n. 12, p. 1497, doi. 10.3390/genes11121497
By:
- Downes, Susan M.;
- Nguyen, Tham;
- Tai, Vicky;
- Broadgate, Suzanne;
- Shah, Mital;
- Al-Khuzaei, Saoud;
- MacLaren, Robert E.;
- Shanks, Morag;
- Clouston, Penny;
- Halford, Stephanie
Publication type:
Article
Novel Pathogenic Sequence Variants in NR2E3 and Clinical Findings in Three Patients.
Published in:
Genes, 2020, v. 11, n. 11, p. 1288, doi. 10.3390/genes11111288
By:
- Al-khuzaei, Saoud;
- Broadgate, Suzanne;
- Halford, Stephanie;
- Jolly, Jasleen K.;
- Shanks, Morag;
- Clouston, Penny;
- Downes, Susan M.
Publication type:
Article
Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data.
Published in:
Bioinformatics, 2017, v. 33, n. 15, p. 2421, doi. 10.1093/bioinformatics/btx147
By:
- Pontikos, Nikolas;
- Jing Yu;
- Moghul, Ismail;
- Withington, Lucy;
- Blanco-Kelly, Fiona;
- Vulliamy, Tom;
- Wong, Tsz Lun Ernest;
- Murphy, Cian;
- Cipriani, Valentina;
- Fiorentino, Alessia;
- Arno, Gavin;
- Greene, Daniel;
- Jacobsen, Julius O. B.;
- Clark, Tristan;
- Gregory, David S.;
- Nemeth, Andrea M.;
- Halford, Stephanie;
- Inglehearn, Chris F.;
- Downes, Susan;
- Black, Graeme C.
Publication type:
Article
Cloning and Developmental Expression Analysis of Chick Hira (Chira), a Candidate Gene for DiGeorge Syndrome.
Published in:
Human Molecular Genetics, 1997, v. 6, n. 2, p. 237, doi. 10.1093/hmg/6.2.237
By:
- Roberts, Catherine;
- Daw, Sara C. M.;
- Halford, Stephanie;
- Scambler, Peter J.
Publication type:
Article
Isolation of a gene encoding an integral membrane protein from the vicinity of a balanced translocation breakpoint associated with DiGeorge syndrome.
Published in:
Human Molecular Genetics, 1995, v. 4, n. 6, p. 1027
By:
- Wadey, Roy;
- Daw, Sara;
- Taylor, Catherine;
- Atif, Uzma;
- Kamath, Shalan;
- Halford, Stephanie;
- O‘Donnell, Hilary;
- Wilson, David;
- Goodship, Judith;
- Burn, John;
- Scambler, Peter
Publication type:
Article
Isolation of a gene expressed during early embryogenesis from the region of 22q11 commonly deleted in DiGeorge syndrome.
Published in:
Human Molecular Genetics, 1993, v. 2, n. 10, p. 1577
By:
- Halford, Stephanie;
- Wilson, David I;
- DAW, Sara C.M.;
- Roberts, Cathrine;
- Wadey, Roy;
- Kamath, Shalan;
- Wickremasinghe, Amal;
- Burn, John;
- Goodship, Judith;
- Mattel, Marie-Genevieve;
- Moormon, F.M.;
- Sclambler, Peter J.
Publication type:
Article
Haplotype analysis to determine the position of a mutation among closely linked DNA markers.
Published in:
Human Molecular Genetics, 1993, v. 2, n. 7, p. 1007
By:
- Ramsay, Michele;
- Williamson, Robert;
- Estivill, Xavier;
- Wainwright, Brandon J.;
- Ho, Meng-Falt;
- Halford, Stephanie;
- Kere, Juha;
- Savilahti, Erkki;
- Chapelle, Albert de la;
- Schwartz, Marianne;
- Schwartz, Martin;
- Super, Maurice;
- Farndon, Peter;
- Hardlng, Carol;
- Meredith, Linda;
- Al-Jader, Layla;
- Ferec, Claude;
- Claustres, Mirellle;
- Casals, Teresa;
- Nunes, Virginia
Publication type:
Article
Low-copy-number repeat sequences flank the DiGeorge/velo-cardio-facial syndrome loci at 22q11.
Published in:
Human Molecular Genetics, 1993, v. 2, n. 2, p. 191
By:
- Halford, Stephanie;
- Lindsay, Elizabeth;
- Nayudu, Manimekalai;
- Carey, Alisoun H.;
- Baldini, Antonio;
- Scambler, Peter J.
Publication type:
Article
Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy - a case report.
Published in:
2021
By:
- Al-Khuzaei, Saoud;
- Hudspith, Karl A. Z.;
- Broadgate, Suzanne;
- Shanks, Morag E.;
- Clouston, Penny;
- Németh, Andrea H.;
- Halford, Stephanie;
- Downes, Susan M.
Publication type:
journal article

Found: 28