A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13. 4 (RP11) EN Vithana, L Abu-Safieh, MJ Allen, A Carey, M Papaioannou, ... Molecular cell 8 (2), 375-381, 2001 | 418 | 2001 |
Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19 M Al-Maghtheh, CF Inglehearn, TK Jeffrey, K Evans, AT Moore, M Jay, ... Human molecular genetics 3 (2), 351-354, 1994 | 109 | 1994 |
Rhodopsin mutations in autosomal dominant retinitis pigmentosa M Al‐Maghtheh, C Gregory, C Inglehearn, A Hardcastle, S Bhattacharya Human Mutation 2 (4), 249-255, 1993 | 97 | 1993 |
Evidence for a major retinitis pigmentosa locus on 19q13. 4 (RP11) and association with a unique bimodal expressivity phenotype M Al-Maghtheh, E Vithana, E Tarttelin, M Jay, K Evans, T Moore, ... American journal of human genetics 59 (4), 864, 1996 | 93 | 1996 |
Evidence for interaction between human PRUNE and nm23-H1 NDPKinase A Reymond, S Volorio, G Merla, M Al-Maghtheh, O Zuffardi, A Bulfone, ... Oncogene 18 (51), 7244-7252, 1999 | 88 | 1999 |
Bimodal expressivity in dominant retinitis pigmentosa genetically linked to chromosome 19q. K Evans, M Al-Maghtheh, FW Fitzke, AT Moore, M Jay, CF Inglehearn, ... British journal of ophthalmology 79 (9), 841-846, 1995 | 70 | 1995 |
A linkage survey of 20 dominant retinitis pigmentosa families: frequencies of the nine known loci and evidence for further heterogeneity. CF Inglehearn, EE Tarttelin, C Plant, RE Peacock, M Al-Maghtheh, ... Journal of medical genetics 35 (1), 1-5, 1998 | 53 | 1998 |
Dominant retinitis pigmentosa associated with two rhodopsin gene mutations: leu-40-arg and an insertion disrupting the 5′-splice junction of exon 5 RY Kim, M Al-Maghtheh, FW Fitzke, GB Arden, M Jay, SS Bhattacharya, ... Archives of Ophthalmology 111 (11), 1518-1524, 1993 | 53 | 1993 |
Segregation of a PRKCG mutation in two RP11 families M Al-Maghtheh, EN Vithana, CF Inglehearn, T Moore, AC Bird, ... The American Journal of Human Genetics 62 (5), 1248-1252, 1998 | 37 | 1998 |
Further refinement of the location for autosomal dominant retinitis pigmentosa on chromosome 7p (RP9) CF Inglehearn, TJ Keen, M Al-Maghtheh, CY Gregory, MR Jay, AT Moore, ... American journal of human genetics 54 (4), 675, 1994 | 28 | 1994 |
RP11 is the second most common locus for dominant retinitis pigmentosa E Vithana, M Al-Maghtheh, SS Bhattacharya, CF Inglehearn Journal of medical genetics 35 (2), 174, 1998 | 21 | 1998 |
A 150 bp insertion in the rhodopsin gene of an autosomal dominant retinitis pigmentosa family M Al-Maghtheh, RY Kim, A Hardcastle, C Inglehearn, SS Bhattacharya Human molecular genetics 3 (1), 205-206, 1994 | 16 | 1994 |
Simple tests for rhodopsin involvement in retinitis pigmentosa E Tarttelin, M Al-Maghtheh, J Keen, S Bhattacharya, C Inglehearn Journal of Medical Genetics 33 (3), 262, 1996 | 9 | 1996 |
Two new rhodopsin transversion mutations (L40R; M216K) in families with autosomal dominant retinitis pigmentosa M Al‐Maghtheh, C Inglehearn, P Lunt, M Jay, A Bird, S Bhattacharya Human Mutation 3 (4), 409-410, 1994 | 9 | 1994 |
Loci for autosomal dominant retinitis pigmentosa and dominant cystoid macular dystrophy on chromosome 7p are not allelic C Inglehearn, TJ Keen, M Al-Maghtheh, S Bhattacharya American journal of human genetics 55 (3), 581, 1994 | 8 | 1994 |
Variation in DNA polymorphisms of the short arm of the human X chromosome: genetic affinity of Parsi from western India M Al-Maghtheh, V Ray, SS Mastana, MD Garralda, SS Bhattacharya, ... Human heredity 43 (4), 239-243, 1993 | 4 | 1993 |
Die Segregationsanalyse bei erblichen Augenerkrankungen–akademisches Extra oder notwendiger Aufwand? MN Preising, HJ Bolz Klinische Monatsblätter für Augenheilkunde 234 (03), 272-279, 2017 | 2 | 2017 |
Physical map of the RP11 locus for autosomal dominant retinitis pigmentosa and investigation of a candidate gene. EN Vithana, M Al-Maghtheh, N Kenmochi, S Higa, SS Bhattacharya AM J HUM GENET 65 (4), A422-A422, 1999 | 1 | 1999 |
Rhodopsin mutations in photoreceptor degeneration: implications for protein dysfunction S Bhattacharya, M Al-Maghtheh, C Inglehearn Protein Dysfunction in Human Genetic Disease, 187-202, 2024 | | 2024 |
Positional cloning of the RP11 gene; Deeper contig of the region, and identification of new candidate genes MA Al-Maghtheh, E Vithana, SS Bhattacharya INVEST OPHTH VIS SCI 40 (4), S604-S604, 1999 | | 1999 |