Ali, Manir : rechercher sur Z-Library

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1

Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus

Crow, Yanick J, Hayward, Bruce E, Parmar, Rekha, Robins, Peter, Leitch, Andrea, Ali, Manir, Black, Deborah N, van Bokhoven, Hans, Brunner, Han G, Hamel, Ben C

Journal:

Nature Genetics

Année:

2006

Langue:

english

Fichier:

PDF, 176 KB

english, 2006

2

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

Crow, Yanick J, Leitch, Andrea, Hayward, Bruce E, Garner, Anna, Parmar, Rekha, Griffith, Elen, Ali, Manir, Semple, Colin, Aicardi, Jean, Babul-Hirji, Riyana

Journal:

Nature Genetics

Année:

2006

Langue:

english

Fichier:

PDF, 383 KB

english, 2006

3

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:

Année:

2017

Langue:

english

Fichier:

PDF, 601 KB

english, 2017

4

Mpdz Null Allele in an Avian Model of Retinal Degeneration and Mutations in Human Leber Congenital Amaurosis and Retinitis Pigmentosa

Ali, Manir, Hocking, Paul M., McKibbin, Martin, Finnegan, Sorcha, Shires, Mike, Poulter, James A., Prescott, Katrina, Booth, Adam, Raashid, Yasmin, Jafri, Hussain, Ruddle, Jonathan B., Mackey, David A

Journal:

Investigative Ophthalmology & Visual Science

Année:

2011

Langue:

english

Fichier:

PDF, 1.60 MB

english, 2011

5

A newly identified aldolase B splicing mutation (G→C, 5′ intron 5) in hereditary fructose intolerance from New Zealand

Manir Ali, Carolyn L. James, Timothy M. Cox

Journal:

Année:

1996

Langue:

english

Fichier:

PDF, 216 KB

english, 1996

6

Fcγ receptor type IIIA is associated with rheumatoid arthritis in two distinct ethnic groups

Ann W. Morgan, Bridget Griffiths, Frederique Ponchel, Bridget M. N. Montague, Manir Ali, Philip P. Gardner, Hock-Chye Gooi, R. Deva Situnayake, Alexander F. Markham, Paul Emery, John D. Isaacs

Journal:

Arthritis & Rheumatism

Année:

2000

Langue:

english

Fichier:

PDF, 73 KB

english, 2000

7

Identification of autosomal recessive disease loci using out-bred nuclear families

Ian M. Carr, Christine P. Diggle, Nader Touqan, Rashida Anwar, Eamonn G. Sheridan, David T. Bonthron, Colin A. Johnson, Manir Ali, Alexander F. Markham

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 255 KB

english, 2012

8

Loss of the Metalloprotease ADAM9 Leads to Cone-Rod Dystrophy in Humans and Retinal Degeneration in Mice

David A. Parry, Carmel Toomes, Lina Bida, Michael Danciger, Katherine V. Towns, Martin McKibbin, Samuel G. Jacobson, Clare V. Logan, Manir Ali, Jacquelyn Bond, Rebecca Chance, Steven Swendeman, Lauren

Journal:

The American Journal of Human Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 1.26 MB

english, 2009

9

Null Mutations in LTBP2 Cause Primary Congenital Glaucoma

Manir Ali, Martin McKibbin, Adam Booth, David A. Parry, Payal Jain, S. Amer Riazuddin, J. Fielding Hejtmancik, Shaheen N. Khan, Sabika Firasat, Mike Shires, David F. Gilmour, Katherine Towns, Anna-Lou

Journal:

The American Journal of Human Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 1.05 MB

english, 2009

10

Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy

James A. Poulter, Manir Ali, David F. Gilmour, Aine Rice, Hiroyuki Kondo, Kenshi Hayashi, David A. Mackey, Lisa S. Kearns, Jonathan B. Ruddle, Jamie E. Craig, Eric A. Pierce, Louise M. Downey, Moin D.

Journal:

The American Journal of Human Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 515 KB

english, 2010

11

Application of differential display to immunological research

Manir Ali, Alexander F. Markham, John D. Isaacs

Journal:

Journal of Immunological Methods

Année:

2001

Langue:

english

Fichier:

PDF, 213 KB

english, 2001

12

Clinical phenotype associated with homozygosity for a HOXD13 7-residue polyalanine tract expansion

Katherine Horsnell, Manir Ali, Saghira Malik, Louise Wilson, Christine Hall, Philippe Debeer, Yanick Crow

Journal:

European Journal of Medical Genetics

Année:

2006

Langue:

english

Fichier:

PDF, 227 KB

english, 2006

13

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

Année:

2008

Langue:

english

Fichier:

PDF, 1.64 MB

english, 2008

14

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

Année:

2009

Langue:

english

Fichier:

PDF, 1.27 MB

english, 2009

15

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

Année:

2013

Langue:

english

Fichier:

PDF, 2.19 MB

english, 2013

16

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

Année:

2014

Langue:

english

Fichier:

PDF, 105 KB

english, 2014

17

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

Année:

2014

Langue:

english

Fichier:

PDF, 404 KB

english, 2014

18

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

Année:

2006

Langue:

english

Fichier:

PDF, 432 KB

english, 2006

19

Recessive Mutations in TSPAN12 Cause Retinal Dysplasia and Severe Familial Exudative Vitreoretinopathy (FEVR)

Poulter, James A., Davidson, Alice E., Ali, Manir, Gilmour, David F., Parry, David A., Mintz-Hittner, Helen A., Carr, Ian M., Bottomley, Helen M., Long, Vernon W., Downey, Louise M., Sergouniotis, Pan

Journal:

Investigative Ophthalmology & Visual Science

Année:

2012

Langue:

english

Fichier:

PDF, 769 KB

english, 2012

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

Année:

2015

Langue:

english

Fichier:

PDF, 326 KB

english, 2015

21

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:

Année:

2015

Langue:

english

Fichier:

PDF, 994 KB

english, 2015

22

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

Année:

2011

Langue:

english

Fichier:

PDF, 3.61 MB

english, 2011

23

Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy

Poulter, James A., Ali, Manir, Gilmour, David F., Rice, Aine, Kondo, Hiroyuki, Hayashi, Kenshi, Mackey, David A., Kearns, Lisa S., Ruddle, Jonathan B., Craig, Jamie E., Pierce, Eric A., Downey, Louise

Journal:

The American Journal of Human Genetics

Année:

2016

Langue:

english

Fichier:

PDF, 54 KB

english, 2016

24

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

Année:

2016

Langue:

english

Fichier:

PDF, 318 KB

english, 2016

25

Alteration of substrate specificity by a naturally-occurring aldolase B mutation (Ala337→Val) in fructose intolerance

RELLOS*, Peter, ALI*, Manir, VIDAILHET, Michel, SYGUSCH, Jurgen, COX, Timothy M.

Journal:

Biochemical Journal

Année:

1999

Langue:

english

Fichier:

PDF, 164 KB

english, 1999

26

Alteration of substrate specificity by a naturally-occurring aldolase B mutation (Ala337→Val) in fructose intolerance

RELLOS, Peter, ALI, Manir, VIDAILHET, Michel, SYGUSCH, Jurgen, COX, Timothy M.

Journal:

Biochemical Journal

Année:

1999

Langue:

english

Fichier:

PDF, 164 KB

english, 1999

27

Use of a gene-based case-control association approach in exome sequencing data to elucidate the molecular basis of a mendelian phenotype

Sergouniotis, Panagiotis I, Robson, Anthony G, El-Asrag, Mohammed E, Ali, Manir, Holder, Graham E, Black, Graeme C, Webster, Andrew R, Plagnol, Vincent

Journal:

Année:

2017

Langue:

english

Fichier:

PDF, 63 KB

english, 2017

28

Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy

Taylor, Rachel L., Arno, Gavin, Poulter, James A., Khan, Kamron N., Morarji, Jiten, Hull, Sarah, Pontikos, Nikolas, Rueda Martin, Antonio, Smith, Katherine R., Ali, Manir, Toomes, Carmel, McKibbin, Ma

Journal:

JAMA Ophthalmology

Année:

2017

Langue:

english

Fichier:

PDF, 1.49 MB

english, 2017

29

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

Année:

2017

Langue:

english

Fichier:

PDF, 616 KB

english, 2017

30

Rapid Visualisation of Microarray Copy Number Data for the Detection of Structural Variations Linked to a Disease Phenotype

Carr, Ian M., Diggle, Christine P., Khan, Kamron, Inglehearn, Chris, McKibbin, Martin, Bonthron, David T., Markham, Alexander F., Anwar, Rashida, Dobbie, Angus, Pena, Sergio D.J., Ali, Manir, Adamovic

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 849 KB

english, 2012

31

Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes

Astuti, Galuh, van den Born, L., Khan, M., Hamel, Christian, Bocquet, Béatrice, Manes, Gaël, Quinodoz, Mathieu, Ali, Manir, Toomes, Carmel, McKibbin, Martin, El-Asrag, Mohammed, Haer-Wigman, Lonneke,

Journal:

Année:

2018

Langue:

english

Fichier:

PDF, 2.99 MB

english, 2018

32

Retinal Phenotypes in Patients Homozygous for the G1961E Mutation in the ABCA4 Gene

Burton, David S. M., Ali, Manir, McKibbin, Martin

Journal:

Investigative Ophthalmology & Visual Science

Année:

2013

Langue:

english

Fichier:

PDF, 166 KB

english, 2013

33

Profiling Retinal Biochemistry in the MPDZ Mutant Retinal Dysplasia and Degeneration Chick: A Model of Human RP and LCA

Beattie, James R., Finnegan, Sorcha, Hamilton, Ross W., Ali, Manir, Inglehearn, Christopher F., Stitt, Alan W., McGarvey, John J., Hocking, Paul M., Curry, William J.

Journal:

Investigative Ophthalmology & Visual Science

Année:

2012

Langue:

english

Fichier:

PDF, 1.75 MB

english, 2012

34

Influence of total absorbed dose of Co-60 γ-radiation on the properties of h-MoO3 thin films

Sen, Sapan Kumar, Manir, M.S., Dutta, Supria, Ali, M.H., Khan, M.N.I., Matin, M.A., Hakim, M.A.

Journal:

Thin Solid Films

Année:

2019

Langue:

english

Fichier:

PDF, 1.52 MB

english, 2019