SCOPUS 정보 검색 플랫폼

Volumn 59, Issue 4, 1996, Pages 864-871

Evidence for a major retinitis pigmentosa locus on 19q13.4 (RP11), and association with a unique bimodal expressivity phenotype

(8) Al Maghtheh, Mai b Vithana, Eranga b Tarttelin, Emma b Jay, Marcelle b Evans, Kevin b Moore, Tony b Bhattacharya, Shomi b Inglehearn, Chris F a

a UNIVERSITY COLLEGE LONDON (United Kingdom)

b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 19Q; CHROMOSOME 7P; FEMALE; GENETIC LINKAGE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; NIGHT BLINDNESS; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; UNITED KINGDOM; VISUAL FIELD DEFECT;

CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 19; FEMALE; HUMANS; LINKAGE (GENETICS); MALE; PEDIGREE; PHENOTYPE; RETINITIS PIGMENTOSA;

EID: 0029797311 PISSN: 00029297 EISSN: None Source Type: Journal
DOI: None Document Type: Article

Times cited : (56)

References (7)

1
- 0028123295
- Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19
- Al-Maghtheh M, Inglehearn CF, Keen TJ, Evans K, Moore AT, Jay M, Bird AC, et al (1994) Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19. Hum Mol Genet 3:351-354
- (1994) Hum Mol Genet , vol.3 , pp. 351-354
- Al-Maghtheh, M.¹ Inglehearn, C.F.² Keen, T.J.³ Evans, K.⁴ Moore, A.T.⁵ Jay, M.⁶ Bird, A.C.⁷

2
- 0023732713
- A computer programme to make analysis with LIPED and LINKAGE easier to perform and less prone to input errors
- Attwood J, Bryant S (1988) A computer programme to make analysis with LIPED and LINKAGE easier to perform and less prone to input errors. Ann Hum Genet 52:259
- (1988) Ann Hum Genet , vol.52 , pp. 259
- Attwood, J.¹ Bryant, S.²

3
- 0029143376
- An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q
- Bardien S, Ebenezer N, Greenberg J, Inglehearn CF, Bartmann L, Goliath R, Beighton P, et al (1995) An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q. Hum Mol Genet 4:1459-1462
- (1995) Hum Mol Genet , vol.4 , pp. 1459-1462
- Bardien, S.¹ Ebenezer, N.² Greenberg, J.³ Inglehearn, C.F.⁴ Bartmann, L.⁵ Goliath, R.⁶ Beighton, P.⁷

4
- 0026347736
- Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8
- Blanton SH, Heckenlively JR, Cottingham AW, Freidman J, Sadler LA, Wagner M, Freidman LH, et al (1991) Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8. Genomics 11:857-869
- (1991) Genomics , vol.11 , pp. 857-869
- Blanton, S.H.¹ Heckenlively, J.R.² Cottingham, A.W.³ Freidman, J.⁴ Sadler, L.A.⁵ Wagner, M.⁶ Freidman, L.H.⁷

5
- 0018823543
- Population genetic studies of retinitis pigmentosa
- Boughman JA, Confally PM, Nance WE (1980) Population genetic studies of retinitis pigmentosa. Am J Hum Genet 32:223-235
- (1980) Am J Hum Genet , vol.32 , pp. 223-235
- Boughman, J.A.¹ Confally, P.M.² Nance, W.E.³

6
- 0025105161
- A point mutation of rhodopsin gene in one form of retinitis pigmentosa
- Dryja TP, McGee TL, Reichel E, Hahn LB, Cowley GS, Yandell DW, Sandberg MA, et al (1990) A point mutation of rhodopsin gene in one form of retinitis pigmentosa. Nature 343:364-366
- (1990) Nature , vol.343 , pp. 364-366
- Dryja, T.P.¹ McGee, T.L.² Reichel, E.³ Hahn, L.B.⁴ Cowley, G.S.⁵ Yandell, D.W.⁶ Sandberg, M.A.⁷

7
- 0029151529
- Bimodal expressivity in dominant retinitis pigmentosa genetically linked to chromosome 19q
- Evans K, Al-Maghtheh M, Fitzke FW, Moore AT, Jay M, Inglehearn CF, Arden GB, et al (1995) Bimodal expressivity in dominant retinitis pigmentosa genetically linked to chromosome 19q. Br J Ophthalmol 79:841-846
- (1995) Br J Ophthalmol , vol.79 , pp. 841-846
- Evans, K.¹ Al-Maghtheh, M.² Fitzke, F.W.³ Moore, A.T.⁴ Jay, M.⁵ Inglehearn, C.F.⁶ Arden, G.B.⁷

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.