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1

Rhodopsin mutations in autosomal dominant retinitis pigmentosa

Mai Al-Maghtheh, Cheryl Gregory, Chris Inglehearn, Alison Hardcastle, Shomi Bhattacharya

Journal:

Year:

1993

Language:

english

File:

PDF, 605 KB

english, 1993

2

Autosomal Dominant Optic Atrophy: Penetrance and Expressivity in Patients With OPA1 Mutations

Amy C. Cohn, Carmel Toomes, Catherine Potter, Katherine V. Towns, Alex W. Hewitt, Chris F. Inglehearn, Jamie E. Craig, David A. Mackey

Journal:

American Journal of Ophthalmology

Year:

2007

Language:

english

File:

PDF, 524 KB

english, 2007

3

Changing the status quo bias

Khan, K. N., Ali, M., Toomes, C., Inglehearn, C. F., Bradbury, J.

Journal:

British Journal of Ophthalmology

Year:

2011

Language:

english

File:

PDF, 46 KB

english, 2011

4

Reviews of Books

Journal:

Year:

1996

Language:

english

File:

PDF, 119 KB

english, 1996

5

DETAILED RETINAL IMAGING IN CARRIERS OF OCULAR ALBINISM

Khan, Kamron N., Lord, Emma C., Arno, Gavin, Islam, Farrah, Carss, Keren J., Raymond, FLucy, Toomes, Carmel, Ali, Manir, Inglehearn, Chris F., Webster, Andrew R., Moore, Anthony T., Poulter, James A.,

Journal:

Year:

2017

Language:

english

File:

PDF, 601 KB

english, 2017

6

Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degeneration

T. Jeffrey Keen, Chris F. Inglehearn

Journal:

Year:

1996

Language:

english

File:

PDF, 634 KB

english, 1996

7

Localization of a novel t(1;7) translocation associated with Wilms' tumor predisposition and skeletal abnormalities

Paul A. Reynolds, Rachel M. Powlesland, T. Jeffrey Keen, Chris F. Inglehearn, Aimee F. Cunningham, Eric D. Green, Keith W. Brown

Journal:

Genes, Chromosomes and Cancer

Year:

1996

Language:

english

File:

PDF, 430 KB

english, 1996

8

A novel deletion (IVS11+3del4) identified in the human PAX6 gene in a patient with aniridia

Nicola J. Murton, Ishtiaq Rehman, Graeme C.M. Black, Chris F. Inglehearn, Amanda J. Churchill

Journal:

Year:

2000

Language:

english

File:

PDF, 13 KB

english, 2000

9

Two new rhodopsin transversion mutations (L40R; M216K) in families with autosomal dominant retinitis pigmentosa

Mai Al-Maghtheh, Chris Inglehearn, Peter Lunt, Marcelle Jay, Alan Bird, Shomi Bhattacharya

Journal:

Year:

1994

Language:

english

File:

PDF, 344 KB

english, 1994

10

Novel mutations in the small leucine-rich repeat protein/proteoglycan (SLRP) genes in high myopia

Marja Majava, Paul N. Bishop, Pasi Hägg, Paul G. Scott, Aine Rice, Chris Inglehearn, Christopher J. Hammond, Tim D. Spector, Leena Ala-Kokko, Minna Männikkö

Journal:

Year:

2007

Language:

english

File:

PDF, 972 KB

english, 2007

11

Pain relief for paediatric dental chair anaesthesia: current practice in a community dental clinic

S. Jürgens, R. S. Warwick, P. J. Inglehearn, D. S. Gooneratne

Journal:

International Journal of Paediatric Dentistry

Year:

2003

Language:

english

File:

PDF, 73 KB

english, 2003

12

Increased band sharing in DNA fingerprints of an inbred human population

R. J. Bellamy, C. F. Inglehearn, I. K. Jalili, A. J. Jeffreys, S. S. Bhattacharya

Journal:

Year:

1991

Language:

english

File:

PDF, 1.31 MB

english, 1991

13

10.1038/10314

Sullivan, Lori S., Heckenlively, John R., Bowne, Sara J., Zuo, Jian, Hide, Winston A., Gal, Andreas, Denton, Michael, Inglehearn, Chris F., Blanton, Susan H., Daiger, Stephen P.

Journal:

Nature Genetics

Year:

1999

Language:

english

File:

PDF, 581 KB

english, 1999

14

10.1038/41197

Inglehearn, Chris F.

Journal:

Year:

1997

Language:

english

File:

PDF, 142 KB

english, 1997

15

10.1038/44931

Jackson, Andrew, Inglehearn, Chris

Journal:

Year:

1999

Language:

english

File:

PDF, 66 KB

english, 1999

16

A possible genetic answer to a recently reported novel phenotype

Khan, K, Ali, M, Inglehearn, C

Journal:

Year:

2011

Language:

english

File:

PDF, 76 KB

english, 2011

17

Genetic linkage of cone–rod retinal dystrophy to chromosome 19q and evidence for segregation distortion

Evans, Kevin, Fryer, Alan, Inglehearn, Christopher, Duvall-Young, Josephine, Whittaker, Joanne L., Gregory, Cheryl Y., Butler, Rachel, Ebenezer, Neil, Hunt, David M., Bhattacharya, Shomi

Journal:

Nature Genetics

Year:

1994

File:

PDF, 383 KB

1994

18

Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy

Wells, John, Wroblewski, John, Keen, Jeffrey, Inglehearn, Christopher, Jubb, Christopher, Eckstein, Anja, Jay, Marcelle, Arden, Geoffrey, Bhattacharya, Shomi, Fitzke, Fred

Journal:

Nature Genetics

Year:

1993

File:

PDF, 735 KB

1993

19

A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p

Inglehearn, Chris F., Carter, Simon A., Keen, T.Jeffery, Lindsey, Janet, Stephenson, Anthea M., Bashir, Rumaisa, Al-Maghtheh, May, Moore, Anthony T., Jay, Marcelle, Bird, Alan C.

Journal:

Nature Genetics

Year:

1993

File:

PDF, 238 KB

1993

20

Intelligent linkage analysis using gene density estimates

Inglehearn, Chris F.

Journal:

Nature Genetics

Year:

1997

File:

PDF, 106 KB

1997

21

prp8 mutations that cause human retinitis pigmentosa lead to a U5 snRNP maturation defect in yeast

Boon, Kum-Loong, Grainger, Richard J, Ehsani, Parastoo, Barrass, J David, Auchynnikava, Tatsiana, Inglehearn, Chris F, Beggs, Jean D

Journal:

Nature Structural and Molecular Biology

Year:

2007

Language:

english

File:

PDF, 479 KB

english, 2007

22

Identification of a locus on chromosome 2q11 at which recessive amelogenesis imperfecta and cone-rod dystrophy cosegregate

Downey, Louise M, Keen, T Jeffrey, Jalili, Ismail K, McHale, John, Aldred, Michael J, Robertson, Steven P, Mighell, Alan, Fayle, Steven, Wissinger, Bernd, Inglehearn, Chris F

Journal:

European Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 97 KB

english, 2002

23

Identification of a locus (LCA9) for Leber's congenital amaurosis on chromosome 1p36

Keen, T Jeffrey, Mohamed, Moin D, McKibbin, Martin, Rashid, Yasmin, Jafri, Hussain, Maumenee, Irene H, Inglehearn, Chris F

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 76 KB

english, 2003

24

Comment on ‘cosegregation of two unlinked mutant alleles in some cases of autosomal dominant familial exudative vitreoretinopathy’

Bottomley, Helen M, Downey, Louise M, Inglehearn, Chris F, Toomes, Carmel

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 52 KB

english, 2005

25

Mutations in the Beta Propeller WDR72 Cause Autosomal-Recessive Hypomaturation Amelogenesis Imperfecta

Walid El-Sayed, David A. Parry, Roger C. Shore, Mushtaq Ahmed, Hussain Jafri, Yasmin Rashid, Suhaila Al-Bahlani, Sharifa Al Harasi, Jennifer Kirkham, Chris F. Inglehearn, Alan J. Mighell

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 715 KB

english, 2009

26

Regional Assignment of 30 Expressed Sequence Tags on Human Chromosome 7 Using a Somatic Cell Hybrid Panel

RESHMA J. PATEL, JEFFREY T. KEEN, KARL-HEINZ GRZESCHIK, WILLIAM C. NIERMAN, PHILLIP HAYES, SHOMI S. BHATTACHARYA, CHRIS F. INGLEHEARN

Journal:

Year:

1995

Language:

english

File:

PDF, 69 KB

english, 1995

27

A YAC Contig Spanning the Dominant Retinitis Pigmentosa Locus (RP9) on Chromosome 7p

T.Jeffrey Keen, Chris F. Inglehearn, Eric D. Green, Aimee F. Cunningham, Reshma J. Patel, Rachel E. Peacock, Steve Gerken, Ray White, Jean Weissenbach, Shomi S. Bhattacharya

Journal:

Year:

1995

File:

PDF, 373 KB

1995

28

Analysis of a Human Gene Homologous to Rat Ventral Prostate.1 Protein

Rachel E. Peacock, T.Jeffrey Keen, Chris F. Inglehearn

Journal:

Year:

1997

Language:

english

File:

PDF, 285 KB

english, 1997

29

3231 Frequencies of different forms of autosomal dominant retinitis pigmentosa and a new locus for adRP

C.F. Inglehearn, S. Bardien, E.E. Tarttelin, J. Greenberg, M. Al-Maghtheh, N. Ebenezer, T.J. Keen, M. Jay, A.C. Bird, S.S. Bhattacharya

Journal:

Vision Research

Year:

1995

Language:

english

File:

PDF, 125 KB

english, 1995

30

Localization of the aquaporin 1 (AQP1) gene within a YAC contig containing the polymorphic markers D7S632 and D7S526

T.Jeffrey Keen, Chris F. Inglehearn, Reshma J. Patel, Eric D. Green, Dale C. Peluso, Shomi S. Bhattacharya

Journal:

Year:

1995

Language:

english

File:

PDF, 253 KB

english, 1995

31

Collagen organization in the chicken cornea and structural alterations in the retinopathy, globe enlarged (rge) phenotype—An X-ray diffraction study

Craig Boote, Sally Hayes, Simon Jones, Andrew J. Quantock, Paul M. Hocking, Chris F. Inglehearn, Manir Ali, Keith M. Meek

Journal:

Journal of Structural Biology

Year:

2008

Language:

english

File:

PDF, 1.64 MB

english, 2008

32

Ultrastructural changes in the retinopathy, globe enlarged (rge) chick cornea

Craig Boote, Sally Hayes, Robert D. Young, Christina S. Kamma-Lorger, Paul M. Hocking, Ahmed Elsheikh, Chris F. Inglehearn, Manir Ali, Keith M. Meek

Journal:

Journal of Structural Biology

Year:

2009

Language:

english

File:

PDF, 1.27 MB

english, 2009

33

Familial Exudative Vitreoretinopathy and DiGeorge Syndrome: A New Locus for Familial Exudative Vitreoretinopathy on Chromosome 22q11.2?

David F. Gilmour, Louise M. Downey, Eamonn Sheridan, Vernon Long, John Bradbury, Chris F. Inglehearn, Carmel Toomes

Journal:

Year:

2009

Language:

english

File:

PDF, 435 KB

english, 2009

34

Illuminator, a desktop program for mutation detection using short-read clonal sequencing

Ian M. Carr, Joanne E. Morgan, Christine P. Diggle, Eamonn Sheridan, Alexander F. Markham, Clare V. Logan, Chris F. Inglehearn, Graham R. Taylor, David T. Bonthron

Journal:

Year:

2011

Language:

english

File:

PDF, 1.78 MB

english, 2011

35

Meiotic Drive at the Myotonic Dystrophy and the Cone-Rod Dystrophy Loci on Chromosome 19q13.3

CHRIS F. INGLEHEARN, CHERYL Y. GREGORY

Journal:

The American Journal of Human Genetics

Year:

1997

Language:

english

File:

PDF, 61 KB

english, 1997

36

Segregation of a PRKCG Mutation in Two RP11 Families

Mai Al-Maghtheh, Eranga N. Vithana, Chris F. Inglehearn, Tony Moore, Alan C. Bird, Shomi S. Bhattacharya

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 572 KB

english, 1998

37

LOD Scores, Location Scores, and X-Linked Cone Dystrophy

Chris F. Inglehearn

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 52 KB

english, 1998

38

A New Locus for Autosomal Dominant Familial Exudative Vitreoretinopathy Maps to Chromosome 11p12-13

L.M. Downey, T.J. Keen, E. Roberts, D.C. Mansfield, M. Bamashmus, C.F. Inglehearn

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 723 KB

english, 2001

39

PAP-1, the mutated gene underlying the RP9 form of dominant retinitis pigmentosa, is a splicing factor

Hiroshi Maita, Hirotake Kitaura, T. Jeffrey Keen, Chris F. Inglehearn, Hiroyoshi Ariga, Sanae M.M. Iguchi-Ariga

Journal:

Experimental Cell Research

Year:

2004

Language:

english

File:

PDF, 876 KB

english, 2004

40

16-P024 Functional characterization of the ciliary proteins lebercilin and MKS1

Gabrielle Wheway, Carmel Toomes, Chris Inglehearn, Colin Johnson

Journal:

Mechanisms of Development

Year:

2009

Language:

english

File:

PDF, 36 KB

english, 2009

41

An X-Ray Scattering Study into the Structural Basis of Corneal Refractive Function in an Avian Model

Morgan, Siân R., Dooley, Erin P., Hocking, Paul M., Inglehearn, Chris F., Ali, Manir, Sorensen, Thomas L.-M., Meek, Keith M., Boote, Craig

Journal:

Biophysical Journal

Year:

2013

Language:

english

File:

PDF, 2.19 MB

english, 2013

42

CFH, VEGF and HTRA1 promoter genotype may influence the response to intravitreal ranibizumab therapy for neovascular age-related macular degeneration

McKibbin, M., Ali, M., Bansal, S., Baxter, P. D., West, K., Williams, G., Cassidy, F., Inglehearn, C. F.

Journal:

British Journal of Ophthalmology

Year:

2012

Language:

english

File:

PDF, 110 KB

english, 2012

43

no evidence for linkage between late onset autosomal dominant retinitis pigmentosa and chromosome 3 locus D3S47 (C17): Evidence for genetic heterogeneity

Inglehearn, C.F., Jay, M., Lester, D.H., Bashir, R., Jay, B., Bird, A.C., Wright, A.F., Evans, H.J., Papiha, S.S., Bhattacharya, S.S.

Journal:

Year:

1990

Language:

english

File:

PDF, 987 KB

english, 1990

44

Aberrant Wnt signalling and cellular over-proliferation in a novel mouse model of Meckel–Gruber syndrome

Wheway, Gabrielle, Abdelhamed, Zakia, Natarajan, Subaashini, Toomes, Carmel, Inglehearn, Chris, Johnson, Colin A.

Journal:

Developmental Biology

Year:

2013

Language:

english

File:

PDF, 3.48 MB

english, 2013

45

Poster #T102 IDENTIFICATION OF A SUSCEPTIBILITY LOCUS IN A CONSANGUINEOUS FAMILY WITH MULTIPLE SCHIZOPHRENIA-AFFECTED MEMBERS

Ivorra, Jose L., Ali, Manir, Logan, Clare, Mahmood, Tariq, Khan, Shabana, Cardno, Alastair G., Johnson, Colin, Inglehearn, Chris F., Clapcote, Steven

Journal:

Schizophrenia Research

Year:

2014

Language:

english

File:

PDF, 105 KB

english, 2014

46

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

Keen, T.J., Inglehearn, C.F., Lester, D.H., Bashir, R., Jay, M., Bird, A.C., Jay, B., Bhattacharya, S.S.

Journal:

Year:

1991

Language:

english

File:

PDF, 3.95 MB

english, 1991

47

Exclusion of chromosome 6 and 8 locations in nonrhodopsin autosomal dominant retinitis pigmentosa families: Further locus heterogeneity in adRP

Bashir, R., Inglehearn, C.F., Keen, T.J., Lindsey, J., Atif, U., Carter, S.A., Stephenson, A.M., Jackson, A., Jay, M., Bird, A.C.

Journal:

Year:

1992

Language:

english

File:

PDF, 232 KB

english, 1992

48

Identification of Mutations in SLC24A4, Encoding a Potassium-Dependent Sodium/Calcium Exchanger, as a Cause of Amelogenesis Imperfecta

Parry, David A., Poulter, James A., Logan, Clare V., Brookes, Steven J., Jafri, Hussain, Ferguson, Christopher H., Anwari, Babra M., Rashid, Yasmin, Zhao, Haiqing, Johnson, Colin A., Inglehearn, Chris

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 594 KB

english, 2013

49

891 – Consanguinity multiplex and schizophrenia - the royal road to genes of major effect

Mahmood, T., Cardno, A., Nazar, Q., Clapcote, S., Inglehearn, C.

Journal:

European Psychiatry

Year:

2013

Language:

english

File:

PDF, 85 KB

english, 2013

50

Macular Dystrophy Associated with Mutations at Codon 172 in the Human Retinal Degeneration Slow Gene

Wroblewski, John J., Wells, John A., Eckstein, Anja, Fitzke, Fred, Jubb, Chris, Keen, T. Jeffrey, Inglehearn, Chris, Bhattacharya, Shomi, Arden, Geoffrey B., Jay, Marcelle, Bird, Alan C.

Journal:

Year:

1994

Language:

english

File:

PDF, 5.33 MB

english, 1994

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