SCOPUS 정보 검색 플랫폼

Volumn 129, Issue 10, 2011, Pages 1377-1378

Identification of novel mutations,in pakistani families with autosomal recessive retinitis pigmentosa

(17) Azam, Maleeha a,c Collin, Rob W J a,b Malik, Ayesha c Khan, Muhammad I a,c Shah, Syed Tahir A c Shah, Aftab A c Hussain, Alamdar c Sadeque, Ahmed c Arimadyo, Kentar a Ajmal, Muhammad c,d Azam, Ayesha e Qureshi, Nadeem f Bokhari, Habib c Strom, Tim M g Cremers, Frans P M a,b,c Qamar, Raheel c Den Hollander, Anneke I a,b

a RADBOUD UNIVERSITY MEDICAL CENTER (Netherlands)

b RADBOUD UNIVERSITY MEDICAL CENTER (Netherlands)

c Shifa College of Medicine ^* (Pakistan)

d SHIFA COLLEGE OF MEDICINE (Pakistan)

e MAYO HOSPITAL (Pakistan)

f AL SHIFA TRUST EYE HOSPITAL (Pakistan)

g INSTITUTE OF EPIDEMIOLOGY (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; ELECTRORETINOGRAPHY; FAMILY; GENE MUTATION; HOMOZYGOSITY; HUMAN; MISSENSE MUTATION; NIGHT BLINDNESS; OPHTHALMOSCOPY; PAKISTAN; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; SINGLE NUCLEOTIDE POLYMORPHISM;

CONSANGUINITY; DNA MUTATIONAL ANALYSIS; GENES, RECESSIVE; GENETIC LINKAGE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; MICROSATELLITE REPEATS; MUTATION; PAKISTAN; POLYMORPHISM, SINGLE NUCLEOTIDE; RETINITIS PIGMENTOSA;

EID: 80053897695 PISSN: 00039950 EISSN: 15383601 Source Type: Journal
DOI: 10.1001/archophthalmol.2011.290 Document Type: Article

Times cited : (16)

References (6)

1
- 53449085007
- Status of children in blind schools in the northern areas of Pakistan
- Kazmi HS, Shah AA, Awan AA, Khan J, Siddiqui N. Status of children in blind schools in the northern areas of Pakistan. J Ayub Med Coll Abbottabad. 2007;19(4):37-39.
- (2007) J Ayub Med Coll Abbottabad , vol.19 , Issue.4 , pp. 37-39
- Kazmi, H.S.¹ Shah, A.A.² Awan, A.A.³ Khan, J.⁴ Siddiqui, N.⁵

2
- 51549112053
- Prevalence of retinitis pigmentosa in South Indian population aged above 40 years
- Sen P, Bhargava A, George R, et al. Prevalence of retinitis pigmentosa in South Indian population aged above 40 years. Ophthalmic Epidemiol. 2008;15(4):279-281.
- (2008) Ophthalmic Epidemiol , vol.15 , Issue.4 , pp. 279-281
- Sen, P.¹ Bhargava, A.² George, R.³

3
- 0034866964
- Consanguinity and its relevance to clinical genetics
- Bittles AH. Consanguinity and its relevance to clinical genetics. Clin Genet. 2001;60(2):89-98.
- (2001) Clin Genet , vol.60 , Issue.2 , pp. 89-98
- Bittles, A.H.¹

4
- 33646019292
- Quantification of homozygosity in consanguineous individuals with autosomal recessive disease
- Woods CG, Cox J, Springell K, et al. Quantification of homozygosity in consanguineous individuals with autosomal recessive disease. Am J Hum Genet. 2006;78(5):889-896.
- (2006) Am J Hum Genet , vol.78 , Issue.5 , pp. 889-896
- Woods, C.G.¹ Cox, J.² Springell, K.³

5
- 70149103767
- A novel mutation in GRK1 causes Oguchi disease in a consanguineous Pakistani family
- Azam M, Collin RWJ, Khan MI, et al. A novel mutation in GRK1 causes Oguchi disease in a consanguineous Pakistani family. Mol Vis. 2009;15:1788-1793.
- (2009) Mol Vis , vol.15 , pp. 1788-1793
- Azam, M.¹ Collin, R.W.J.² Khan, M.I.³

6
- 77955591104
- Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia
- Azam M, Collin RWJ, Shah STA, et al. Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia. Mol Vis. 2010;16:774-781.
- (2010) Mol Vis , vol.16 , pp. 774-781
- Azam, M.¹ Collin, R.W.J.² Shah, S.T.A.³

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.