E-LIB Suche - Ergebnisse für: Shah, Amna Z.

1

Mutations in SPATA13/ASEF2 cause primary angle closure glau..:

Waseem, Naushin H. ; Low, Sancy ; Shah, Amna Z....
PLOS Genetics. 16 (2020) 4 - p. e1008721 , 2020

2

Neonatal brain-directed gene therapy rescues a mouse model ..:

kleine Holthaus, Sophia-Martha ; Herranz-Martin, Saul ; Massaro, Giulia...
Human Molecular Genetics. 28 (2019) 23 - p. 3867-3879 , 2019

Link: https://doi.org/10.1093/..

3

EYS Is a Protein Associated with the Ciliary Axoneme in Rod..:

Alfano, Giovanna ; Kruczek, Przemyslaw M. ; Shah, Amna Z....
PLOS ONE. 11 (2016) 11 - p. e0166397 , 2016

Link: https://doi.org/10.1371/..

4

First insights into the expression of VAX2 in humans and it..:

Alfano, Giovanna ; Shah, Amna Z. ; Jeffery, Glen.
Experimental Eye Research. 148 (2016) - p. 24-29 , 2016

Link: https://doi.org/10.1016/..

5

Transcriptional regulation of PRPF31 gene expression by MSR..:

Rose, Anna M. ; Shah, Amna Z. ; Venturini, Giulia...
Scientific Reports. 6 (2016) 1 - p. , 2016

Link: https://doi.org/10.1038/..

6

TOPORS, a Dual E3 Ubiquitin and Sumo1 Ligase, Interacts wit..:

Czub, Barbara ; Shah, Amna Z. ; Alfano, Giovanna...
PLOS ONE. 11 (2016) 2 - p. e0148678 , 2016

Link: https://doi.org/10.1371/..

7

DominantPRPF31Mutations Are Hypostatic to a RecessiveCNOT3P..:

Rose, Anna M. ; Shah, Amna Z. ; Venturini, Giulia...
Annals of Human Genetics. 78 (2013) 1 - p. 62-71 , 2013

Link: https://doi.org/10.1111/..

8

CNOT3 Is a Modifier of PRPF31 Mutations in Retinitis Pigmen..:

Venturini, Giulia ; Rose, Anna M. ; Shah, Amna Z....
PLoS Genetics. 8 (2012) 11 - p. e1003040 , 2012

Link: https://doi.org/10.1371/..

9

Expression of PRPF31 and TFPT: regulation in health and ret..:

Rose, Anna M. ; Shah, Amna Z. ; Waseem, Naushin H....
Human Molecular Genetics. 21 (2012) 18 - p. 4126-4137 , 2012

Link: https://doi.org/10.1093/..

10

TOPORS, implicated in retinal degeneration, is a cilia-cent..:

Chakarova, Christina F. ; Khanna, Hemant ; Shah, Amna Z....
Human Molecular Genetics. 20 (2010) 5 - p. 975-987 , 2010

Link: https://doi.org/10.1093/..

11

Mutations in SPATA13/ASEF2 cause primary angle closure glau..:

Waseem, Naushin H ; Low, Sancy ; Shah, Amna Z...
Waseem , N H , Low , S , Shah , A Z , Avisetti , D , Ostergaard , P , Simpson , M , Niemiec , K A , Martin-Martin , B , Aldehlawi , H , Usman , S , Lee , P S , Khawaja , A P , Ruddle , J B , Shah , A , Sackey , E , Day , A , Jiang , Y , Swinfield , G , Viswanathan , A , Alfano , G , Chakarova , C , Cordell , H J , Garway-Heath , D F , Khaw , P T , Bhattacharya , S S , Waseem , A & Foster , P J 2020 , ' Mutations in SPATA13/ASEF2 cause primary angle closure glaucoma ' , PLoS Genetics , vol. 16 , no. 4 , e1008721 . https://doi.org/10.1371/journal.pgen.1008721. , 2020

Link: https://kclpure.kcl.ac.u..

12

Mutations in SPATA13/ASEF2 cause primary angle closure glau..:

Waseem, Naushin H ; Low, Sancy ; Shah, Amna Z...
Waseem , N H , Low , S , Shah , A Z , Avisetti , D , Ostergaard , P , Simpson , M , Niemiec , K A , Martin-Martin , B , Aldehlawi , H , Usman , S , Lee , P S , Khawaja , A P , Ruddle , J B , Shah , A , Sackey , E , Day , A , Jiang , Y , Swinfield , G , Viswanathan , A , Alfano , G , Chakarova , C , Cordell , H J , Garway-Heath , D F , Khaw , P T , Bhattacharya , S S , Waseem , A & Foster , P J 2020 , ' Mutations in SPATA13/ASEF2 cause primary angle closure glaucoma ' , PLoS Genetics , vol. 16 , no. 4 , e1008721 . https://doi.org/10.1371/journal.pgen.1008721. , 2020

Link: https://kclpure.kcl.ac.u..

13

TOPORS, a dual E3 ubiquitin and Sumo1 ligase, interacts wit..:

Czub, Barbara ; Shah, Amna Z ; Alfano, Giovanna...
PLoS ONE, 11, 1-20.. , 2019

Link: https://idus.us.es/xmlui..

14

Transcriptional regulation of PRPF31 gene expression by MSR..:

Rose, Anna M ; Shah, Amna Z ; Venturini, Giulia...
https://doi.org/10.1038/srep19450. , 2018

Link: https://idus.us.es/xmlui..

15

Transcriptional regulation of PRPF31 gene expression by MSR..:

Rose, Anna M ; Shah, Amna Z ; Venturini, Giulia...
Publisher's version. , 2016

Link: http://hdl.handle.net/10..