Inglehearn, Chris F.: search on Z-Library

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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

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

3

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

4

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

5

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

6

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

7

Mutation in the Guanine Nucleotide–Binding Protein β-3 Causes Retinal Degeneration and Embryonic Mortality in Chickens

Tummala, Hemanth, Ali, Manir, Getty, Paul, Hocking, Paul M., Burt, David W., Inglehearn, Chris F., Lester, Douglas H.

Journal:

Investigative Ophthalmology & Visual Science

Year:

2006

Language:

english

File:

PDF, 432 KB

english, 2006

8

Homozygous single base deletion in TUSC3 causes intellectual disability with developmental delay in an Omani family

Al-Amri, Ahmed, Saegh, Abeer Al, Al-Mamari, Watfa, El-Asrag, Mohammed E., Ivorra, Jose L., Cardno, Alastair G., Inglehearn, Chris F., Clapcote, Steven J., Ali, Manir

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 318 KB

english, 2016

9

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

10

Spectral domain optical coherence tomography imaging of the posterior segment of the eye in the retinal dysplasia and degeneration chicken, an animal model of inherited retinal degeneration

McKibbin, Martin, Ali, Manir, Inglehearn, Chris, Shires, Mike, Boyle, Kenny, Hocking, Paul M.

Journal:

Veterinary Ophthalmology

Year:

2014

Language:

english

File:

PDF, 404 KB

english, 2014

11

An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q

Bardienb, Soraya, Ebenezer, Neil, Greenberg, Jacquie, Inglehearn, Chris F., Bartmann, Lecia, Goliath, Rene, Beighton, Peter, Ramesar, Rajkumar, Bhattacharya, Shomi S.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 365 KB

english, 1995

12

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

13

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

14

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

15

A missense variant in specificity protein 6 (SP6) is associated with amelogenesis imperfecta

Smith, Claire E L, Whitehouse, Laura L E, Poulter, James A, Hewitt, Laura Wilkinson, Nadat, Fatima, Jackson, Brian R, Manfield, Iain W, Edwards, Thomas A, Rodd, Helen D, Inglehearn, Chris F, Mighell,

Journal:

Human Molecular Genetics

Year:

2020

Language:

english

File:

PDF, 772 KB

english, 2020

16

A missense variant inCST3exerts a recessive effect on susceptibility to age-related macular degeneration resembling its association with Alzheimer’s disease

Butler, Joe M., Sharif, Umar, Ali, Manir, McKibbin, Martin, Thompson, Joseph P., Gale, Richard, Yang, Yit C., Inglehearn, Chris, Paraoan, Luminita

Journal:

Year:

2015

Language:

english

File:

PDF, 994 KB

english, 2015

17

Three Gene-Targeted Mouse Models of RNA Splicing Factor RP Show Late-Onset RPE and Retinal Degeneration

Graziotto, John J., Farkas, Michael H., Bujakowska, Kinga, Deramaudt, Bertrand M., Zhang, Qi, Nandrot, Emeline F., Inglehearn, Chris F., Bhattacharya, Shomi S., Pierce, Eric A.

Journal:

Investigative Ophthalmology & Visual Science

Year:

2011

Language:

english

File:

PDF, 3.35 MB

english, 2011

18

LHFPL5 mutation: A rare cause of non-syndromic autosomal recessive hearing loss

Al-Amri, Ahmed H., Al Saegh, Abeer, Al-Mamari, Watfa, El-Asrag, Mohammed E., Al-Kindi, Mohammed N., Al Khabouri, Mazin, Al Wardy, Nadia, Al Lamki, Khalsa, Gabr, Ahlam, Idris, Ahmed, Inglehearn, Chris

Journal:

European Journal of Medical Genetics

Year:

2018

Language:

english

File:

PDF, 890 KB

english, 2018

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

Association Between Missense Mutations in the BBS2 Gene and Nonsyndromic Retinitis Pigmentosa

Shevach, Elia, Ali, Manir, Mizrahi-Meissonnier, Liliana, McKibbin, Martin, El-Asrag, Mohammed, Watson, Christopher M., Inglehearn, Chris F., Ben-Yosef, Tamar, Blumenfeld, Anat, Jalas, Chaim, Banin, Ey

Journal:

JAMA Ophthalmology

Year:

2015

Language:

english

File:

PDF, 326 KB

english, 2015

21

Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19

Al-Maghtheh, Mai, Inglehearn, Chris F., Jeffrey, T. Keen, Evans, Kevin, Moore, Anthony T., Jay, Marcelle, Bird, Alan C., Bhattacharya, Shomi S.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 270 KB

english, 1994

22

A new pedigree with recessive CHED mapping to the CHED2 locus on 20p13

MOHAMED, MOIN D, McKIBBIN, MARTIN, JAFRI, HUSSEIN, RAASHED, YASMIN, WOODS, C GEOFFREY, INGLEHEARN, CHRIS F

Journal:

British Journal of Ophthalmology

Year:

2001

Language:

english

File:

PDF, 226 KB

english, 2001

23

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

24

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

25

Congenital Hereditary Endothelial Dystrophy Caused by SLC4A11 Mutations Progresses to Harboyan Syndrome

Siddiqui, Salina, Zenteno, Juan Carlos, Rice, Aine, Chacón-Camacho, Oscar, Naylor, Steven G., Rivera-de la Parra, David, Spokes, David M., James, Nigel, Toomes, Carmel, Inglehearn, Chris F., Ali, Mani

Journal:

Year:

2013

Language:

english

File:

PDF, 498 KB

english, 2013

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

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

28

Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta

Smith, Claire EL, Whitehouse, Laura LE, Poulter, James A, Brookes, Steven J, Day, Peter F, Soldani, Francesca, Kirkham, Jennifer, Inglehearn, Chris F, Mighell, Alan J

Journal:

European Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 1.23 MB

english, 2017

29

10.1038/44931

Jackson, Andrew, Inglehearn, Chris

Journal:

Year:

1999

Language:

english

File:

PDF, 66 KB

english, 1999

30

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

31

Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta

Poulter, James A, El-Sayed, Walid, Shore, Roger C, Kirkham, Jennifer, Inglehearn, Chris F, Mighell, Alan J

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 459 KB

english, 2014

32

The effect of COMT Val158Met and DRD2 C957T polymorphisms on executive function and the impact of early life stress

Klaus, Kristel, Butler, Kevin, Durrant, Simon J., Ali, Manir, Inglehearn, Chris F., Hodgson, Timothy L., Gutierrez, Humberto, Pennington, Kyla

Journal:

Brain and Behavior

Year:

2017

Language:

english

File:

PDF, 616 KB

english, 2017

33

Molecular genetics of human retinal dystrophies

Inglehearn, Chris F

Journal:

Year:

1998

Language:

english

File:

PDF, 327 KB

english, 1998

34

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

35

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

36

Ophthalmic manifestations of Heimler syndrome due to PEX6 mutations

Wangtiraumnuay, Nutsuchar, Alnabi, Waleed Abed, Tsukikawa, Mai, Thau, Avrey, Capasso, Jenina, Sharony, Reuven, Inglehearn, Chris F., Levin, Alex V.

Journal:

Ophthalmic Genetics

Year:

2018

Language:

english

File:

PDF, 1.62 MB

english, 2018

37

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

38

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

39

Intelligent linkage analysis using gene density estimates

Inglehearn, Chris F.

Journal:

Nature Genetics

Year:

1997

File:

PDF, 106 KB

1997

40

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

41

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

42

Linkage of congenital hereditary endothelial dystrophy to chromosome 20

Toma, N.Michael G., Ebenezer, Neil D., Inglehearn, Chris F., Plant, Catherine, Ficker, Linda A., Bhattacharya, Shomi S.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 1.94 MB

english, 1995

43

MACULAR DYSTROPHY ASSOCIATED WITH THE ARG172TRP SUBSTITUTION IN PERIPHERIN/RDS

ANAND, SEEMA, SHERIDAN, EAMONN, CASSIDY, FRANCES, INGLEHEARN, CHRIS, WILLIAMS, GRANGE, SPRINGELL, KELLY, ALLGAR, VICTORIA, KELLY, THU-LAN, McKIBBIN, MARTIN

Journal:

Year:

2009

Language:

english

File:

PDF, 858 KB

english, 2009

44

New missense variants in RELT causing hypomineralised amelogenesis imperfecta

Nikolopoulos, Georgios, Smith, Claire E.L., Brookes, Steven J., ElâAsrag, Mohammed E., Brown, Catriona J., Patel, Anesha, Murillo, Gina, O'Connell, Mary J., Inglehearn, Chris F., Mighell, Alan J.

Journal:

Clinical Genetics

Year:

2020

Language:

english

File:

PDF, 3.17 MB

english, 2020

45

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

46

The Influence of Lamellar Orientation on Corneal Material Behavior: Biomechanical and Structural Changes in an Avian Corneal Disorder

Boote, Craig, Elsheikh, Ahmed, Kassem, Wael, Kamma-Lorger, Christina S., Hocking, Paul M., White, Nick, Inglehearn, Chris F., Ali, Manir, Meek, Keith M.

Journal:

Investigative Ophthalmology & Visual Science

Year:

2011

Language:

english

File:

PDF, 3.61 MB

english, 2011

47

A clinical and molecular characterisation of CRB1-associated maculopathy

Khan, Kamron N., Robson, Anthony, Mahroo, Omar A. R., Arno, Gavin, Inglehearn, Chris F., Armengol, Monica, Waseem, Naushin, Holder, Graham E., Carss, Keren J., Raymond, Lucy F., Webster, Andrew R., Mo

Journal:

European Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 587 KB

english, 2018

48

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

49

Decreased Levels of the RNA Splicing Factor Prpf3 in Mice and Zebrafish Do Not Cause Photoreceptor Degeneration

Graziotto, John J., Inglehearn, Chris F., Pack, Michael A., Pierce, Eric A.

Journal:

Investigative Ophthalmology & Visual Science

Year:

2008

Language:

english

File:

PDF, 775 KB

english, 2008

50

Deletion of amelotin exons 3–6 is associated with amelogenesis imperfecta

Smith, Claire E.L., Murillo, Gina, Brookes, Steven J., Poulter, James A., Silva, Sandra, Kirkham, Jennifer, Inglehearn, Chris F., Mighell, Alan J.

Journal:

Human Molecular Genetics

Year:

2016

Language:

english

File:

PDF, 726 KB

english, 2016

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