Inglehearn CF - Search Results

1

Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement.

El-Asrag ME, Sergouniotis PI, McKibbin M, Plagnol V, Sheridan E, Waseem N, Abdelhamed Z, McKeefry D, Van Schil K, Poulter JA; UK Inherited Retinal Disease Consortium; Johnson CA, Carr IM, Leroy BP, De Baere E, Inglehearn CF, Webster AR, Toomes C, Ali M. El-Asrag ME, et al. Among authors: inglehearn cf. Am J Hum Genet. 2015 Jun 4;96(6):948-54. doi: 10.1016/j.ajhg.2015.04.006. Epub 2015 May 14. Am J Hum Genet. 2015. PMID: 25983245 Free PMC article.

2

A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis pigmentosa.

Inglehearn CF, Keen TJ, Bashir R, Jay M, Fitzke F, Bird AC, Crombie A, Bhattacharya S. Inglehearn CF, et al. Hum Mol Genet. 1992 Apr;1(1):41-5. doi: 10.1093/hmg/1.1.41. Hum Mol Genet. 1992. PMID: 1301135

3

Molecular genetics of inherited retinal degenerations.

Lindsay S, Inglehearn CF, Curtis A, Bhattacharya S. Lindsay S, et al. Among authors: inglehearn cf. Curr Opin Genet Dev. 1992 Jun;2(3):459-66. doi: 10.1016/s0959-437x(05)80158-3. Curr Opin Genet Dev. 1992. PMID: 1504622 Review.

4

Autosomal dominant retinitis pigmentosa: four new mutations in rhodopsin, one of them in the retinal attachment site.

Keen TJ, Inglehearn CF, Lester DH, Bashir R, Jay M, Bird AC, Jay B, Bhattacharya SS. Keen TJ, et al. Among authors: inglehearn cf. Genomics. 1991 Sep;11(1):199-205. doi: 10.1016/0888-7543(91)90119-y. Genomics. 1991. PMID: 1765377

5

Increased band sharing in DNA fingerprints of an inbred human population.

Bellamy RJ, Inglehearn CF, Jalili IK, Jeffreys AJ, Bhattacharya SS. Bellamy RJ, et al. Among authors: inglehearn cf. Hum Genet. 1991 Jul;87(3):341-7. doi: 10.1007/BF00200917. Hum Genet. 1991. PMID: 1864611

6

A 3-bp deletion in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa.

Inglehearn CF, Bashir R, Lester DH, Jay M, Bird AC, Bhattacharya SS. Inglehearn CF, et al. Am J Hum Genet. 1991 Jan;48(1):26-30. Am J Hum Genet. 1991. PMID: 1985460 Free PMC article.

7

Rapid detection of single base mismatches as heteroduplexes on Hydrolink gels.

Keen J, Lester D, Inglehearn C, Curtis A, Bhattacharya S. Keen J, et al. Trends Genet. 1991 Jan;7(1):5. doi: 10.1016/0168-9525(91)90004-a. Trends Genet. 1991. PMID: 2003336 No abstract available.

8

Linkage of internal minisatellite loci on chromosome 1 and exclusion of autosomal dominant retinitis pigmentosa proximal to rhesus.

Inglehearn CF, Papiha SS, Jay M, Wright AF, Moore AT, Bhattacharya SS. Inglehearn CF, et al. J Med Genet. 1990 Jan;27(1):14-6. doi: 10.1136/jmg.27.1.14. J Med Genet. 1990. PMID: 2106582 Free PMC article.

9

Better fingerprinting with PCR.

Bellamy R, Inglehearn C, Lester D, Hardcastle A, Bhattacharya S. Bellamy R, et al. Trends Genet. 1990 Feb;6(2):32. doi: 10.1016/0168-9525(90)90054-a. Trends Genet. 1990. PMID: 2336717 No abstract available.

10

Linkage to D3S47 (C17) in one large autosomal dominant retinitis pigmentosa family and exclusion in another: confirmation of genetic heterogeneity.

Lester DH, Inglehearn CF, Bashir R, Ackford H, Esakowitz L, Jay M, Bird AC, Wright AF, Papiha SS, Bhattacharya SS. Lester DH, et al. Among authors: inglehearn cf. Am J Hum Genet. 1990 Sep;47(3):536-41. Am J Hum Genet. 1990. PMID: 2393026 Free PMC article.

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