Theo dõi
Mai Al Maghtheh
Mai Al Maghtheh
Professor Molecular Biology and human genetics
Email được xác minh tại hebron.edu
Tiêu đề
Trích dẫn bởi
Trích dẫn bởi
Năm
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
4182001
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
1091994
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
971993
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
931996
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
881999
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
701995
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
531998
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
531993
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
371998
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
281994
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
211998
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
161994
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
91996
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
91994
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
81994
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
41993
Die Segregationsanalyse bei erblichen Augenerkrankungen–akademisches Extra oder notwendiger Aufwand?
MN Preising, HJ Bolz
Klinische Monatsblätter für Augenheilkunde 234 (03), 272-279, 2017
22017
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
11999
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
Hệ thống không thể thực hiện thao tác ngay bây giờ. Hãy thử lại sau.
Bài viết 1–20