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Number of items at this level: 38.

A

Adams, M, Cookson, VJ, Higgins, J et al. (5 more authors) (2014) A high-throughput assay to identify modifiers of premature chromosome condensation. Journal of Biomolecular Screening, 19 (1). 176 - 183. ISSN 1087-0571

Al-Amri, A, Saegh, AA, Al-Mamari, W et al. (6 more authors) (2016) Homozygous single base deletion in TUSC3 causes intellectual disability with developmental delay in an Omani family. American Journal of Medical Genetics Part A, 170 (7). pp. 1826-1831. ISSN 1552-4825

Al-Araimi, M, Pal, B, Poulter, JA et al. (10 more authors) (2013) A new recessively inherited disorder composed of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis maps to chromosome 16q23.3-24.1. Molecular Vision, 19. 2165 - 2172. ISSN 1090-0535

Alsiary, R, Brüning-Richardson, A, Bond, J et al. (3 more authors) (2014) Deregulation of microcephalin and ASPM expression are correlated with epithelial ovarian cancer progression. PLoS ONE, 9 (5). e97059. ISSN 1932-6203

Arno, G, Agrawal, SA, Eblimit, A et al. (27 more authors) (2016) Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa. American Journal of Human Genetics, 99 (6). pp. 1305-1315. ISSN 0002-9297

B

Bedoni, N, Haer-Wigman, L, Vaclavik, V et al. (28 more authors) (2016) Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility. Human Molecular Genetics, 25 (20). pp. 4546-4555. ISSN 0964-6906

Brüning-Richardson, A, Bond, J, Alsiary, R et al. (9 more authors) (2012) NuMA overexpression in epithelial ovarian cancer. PLoS One, 7 (6). ARTN e38945. e38945 - ?. ISSN 1932-6203

C

Carr, IM orcid.org/0000-0001-9544-1068, Diggle, CP, Khan, K et al. (8 more authors) (2012) Rapid Visualisation of Microarray Copy Number Data for the Detection of Structural Variations Linked to a Disease Phenotype. PLoS One, 7 (8). ARTN e43466. ISSN 1552-4973

D

Dent, J, Hall, GD, Wilkinson, N et al. (5 more authors) (2003) Cytogenetic alterations in ovarian clear cell carcinoma detected by comparative genomic hybridisation. British Journal of Cancer, 88 (10). pp. 1578-1583. ISSN 0007-0920

E

El-Asrag, ME, Sergouniotis, PI, McKibbin, M et al. (16 more authors) (2015) Biallelic Mutations in the Autophagy Regulator DRAM2 Cause Retinal Dystrophy with Early Macular Involvement. American Journal of Human Genetics, 96 (6). 948 - 954. ISSN 0002-9297

G

Gai, M, Bianchi, FT, Vagnoni, C et al. (13 more authors) (2016) ASPM and CITK regulate spindle orientation by affecting the dynamics of astral microtubules. EMBO Reports, 17 (10). pp. 1361-1497. ISSN 1469-221X

J

Johnson, CA orcid.org/0000-0002-2979-8234 and Collis, SJ (2016) Ciliogenesis and the DNA damage response: A stressful relationship. Cilia, 5 (1). 19.

K

Kennedy, H, Haack, TB, Hartill, V et al. (32 more authors) (2016) Sudden Cardiac Death due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2. American Journal of Human Genetics. ISSN 0002-9297

Khan, KN, Lord, EC, Arno, G et al. (10 more authors) (2017) DETAILED RETINAL IMAGING IN CARRIERS OF OCULAR ALBINISM. RETINA. ISSN 0275-004X

L

Lambacher, NJ, Bruel, A, van Dam, TJP et al. (21 more authors) (2016) TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome. Nature Cell Biology, 18 (1). pp. 122-131. ISSN 1465-7392

Logan, CV, Cossins, J, Cruz, PMR et al. (16 more authors) (2015) Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain. American Journal of Human Genetics, 97 (6). pp. 878-885. ISSN 0002-9297

M

Makrythanasis, P, Kato, M, Zaki, MS et al. (18 more authors) (2016) Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia. American Journal of Human Genetics, 98 (4). pp. 615-626. ISSN 0002-9297

Malicki, JJ and Johnson, CA orcid.org/0000-0002-2979-8234 (2017) The Cilium: Cellular Antenna and Central Processing Unit. Trends in Cell Biology, 27 (2). pp. 126-140. ISSN 0962-8924

Martin, HL, Adams, M, Higgins, J et al. (6 more authors) (2014) High-content, high-throughput screening for the identification of cytotoxic compounds based on cell morphology and cell proliferation markers. PLoS One, 9 (2). e88338. ISSN 1932-6203

Martin, HL, Smith, L and Tomlinson, DC (2014) Multidrug-resistant breast cancer: Current perspectives. Breast Cancer: Targets and Therapy, 6. 1 - 13. ISSN 1179-1314

Mirzaa, GM, Parry, DA, Fry, AE et al. (31 more authors) (2014) De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. Nature Genetics, 46 (5). pp. 510-515. ISSN 1061-4036

P

Parry, DA, Brookes, SJ, Logan, CV et al. (19 more authors) (2012) Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta. American Journal of Human Genetics, 91 (3). 565 - 571. ISSN 0002-9297

Parry, DA, Holmes, TD, Gamper, N et al. (12 more authors) (2016) A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiency. Elsevier.

Parry, DA, Smith, CEL orcid.org/0000-0001-8320-5105, El-Sayed, W et al. (17 more authors) (2016) Mutations in the pH Sensing G-protein Coupled Receptor GPR68 cause Amelogenesis Imperfecta. American Journal of Human Genetics, 99 (4). pp. 984-990. ISSN 0002-9297

Poulter, JA, Al-Araimi, M, Conte, I et al. (26 more authors) (2013) Recessive Mutations in SLC38A8 Cause Foveal Hypoplasia and Optic Nerve Misrouting without Albinism. American Journal of Human Genetics, 93 (6). 1143 - 1150. ISSN 0002-9297

Poulter, JA, El-Sayed, W, Shore, RC et al. (3 more authors) (2013) Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta. European Journal of Human Genetics, 22. 132 - 135. ISSN 1018-4813

Poulter, JA, Smith, CEL, Murrillo, G et al. (9 more authors) (2015) A distinctive oral phenotype points to FAM20A mutations not identified by Sanger sequencing. Molecular Genetics & Genomic Medicine, 3 (6). pp. 543-549.

R

Riches, K, Franklin, L, Maqbool, A et al. (10 more authors) (2013) Apolipoprotein(a) acts as a chemorepellent to human vascular smooth muscle cells via integrin αVβ3 and RhoA/ROCK-mediated mechanisms. The International Journal of Biochemistry and Cell Biology, 45 (8). 1776 - 1783. ISSN 1357-2725

S

Savic, S, Parry, D, Carter, C et al. (7 more authors) (2015) A new case of Fas-associated death domain protein deficiency and update on treatment outcomes. Journal of Allergy and Clinical Immunology, 136 (2). 502 - 505. ISSN 0091-6749

Schmidts, M, Hou, Y, Cortés, CR et al. (25 more authors) (2015) TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. Nature Communications, 6. 7074.

Sergouniotis, PI, McKibbin, M, Robson, AG et al. (14 more authors) (2015) Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 Gene. Investigative Ophthalmology & Visual Science, 56 (13). pp. 8083-8090. ISSN 0146-0404

Shaheen, R, Szymanska, K, Basu, B et al. (36 more authors) (2016) Characterizing the morbid genome of ciliopathies. Genome Biology, 17 (1). 242. ISSN 1474-760X

Shevach, E, Ali, M, Mizrahi-Meissonnier, L et al. (9 more authors) (2015) Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa. JAMA Ophthalmology, 133 (3). 312 - 318. ISSN 2168-6165

Siddiqui, S, Zenteno, JC, Rice, A et al. (8 more authors) (2014) Congenital hereditary endothelial dystrophy caused by SLC4A11 mutations progresses to Harboyan syndrome. Cornea, 33 (3). 247 - 251. ISSN 0277-3740

Slaats, GG, Wheway, G, Foletto, V et al. (9 more authors) (2015) Screen-based identification and validation of four new ion channels as regulators of renal ciliogenesis. Journal of Cell Science, 128 (24). pp. 4550-4559. ISSN 0021-9533

Smith, CEL orcid.org/0000-0001-8320-5105, Murillo, G, Brookes, SJ orcid.org/0000-0002-9097-7311 et al. (5 more authors) (2016) Deletion of amelotin exons 3-6 is associated with amelogenesis imperfecta. Human Molecular Genetics, 25 (16). pp. 3578-3587. ISSN 0964-6906

Smith, CEL orcid.org/0000-0001-8320-5105, Poulter, JA orcid.org/0000-0003-2048-5693, Levin, AV et al. (9 more authors) (2016) Spectrum of PEX1 and PEX6 variants in Heimler syndrome. European Journal of Human Genetics, 24 (11). pp. 1565-1571. ISSN 1018-4813

T

Taylor, RL, Arno, G, Poulter, JA orcid.org/0000-0003-2048-5693 et al. (18 more authors) (2017) Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy. JAMA Ophthalmology. ISSN 2168-6165

This list was generated on Thu Mar 23 03:36:23 2017 GMT.