E-LIB Suche - Ergebnisse für: Jenkins, Zandra A.

1

Clustered de novo start-loss variants in GLUL result in a d..:

Jones, Amy G. ; Aquilino, Matilde ; Tinker, Rory J....
The American Journal of Human Genetics. 111 (2024) 4 - p. 729-741 , 2024

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

2

Pathogenic FLNA variants affecting the hinge region of fila..:

Wade, Emma M. ; Morgan, Tim ; Gimenez, Gregory...
American Journal of Medical Genetics Part A. , 2024

Link: https://doi.org/10.1002/..

3

Menke-Hennekam syndrome; delineation of domain-specific sub..:

Haghshenas, Sadegheh ; Bout, Hidde J. ; Schijns, Josephine M....
Human Genetics and Genomics Advances. 5 (2024) 3 - p. 100287 , 2024

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

4

Functional correlation of genome‐wide DNA methylation profi..:

Levy, Michael A. ; Relator, Raissa ; McConkey, Haley...
Human Mutation. 43 (2022) 11 - p. 1609-1628 , 2022

Link: https://doi.org/10.1002/..

5

Novel diagnostic DNA methylation episignatures expand and r..:

Levy, Michael A. ; McConkey, Haley ; Kerkhof, Jennifer...
Human Genetics and Genomics Advances. 3 (2022) 1 - p. 100075 , 2022

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

6

Exon skip‐inducing variants in FLNA in an attenuated form o..:

Wade, Emma M. ; Jenkins, Zandra A. ; Morgan, Tim...
American Journal of Medical Genetics Part A. 185 (2021) 12 - p. 3675-3682 , 2021

Link: https://doi.org/10.1002/..

7

The X‐linked filaminopathies: Synergistic insights from cli..:

Wade, Emma M. ; Halliday, Benjamin J. ; Jenkins, Zandra A...
Human Mutation. 41 (2020) 5 - p. 865-883 , 2020

Link: https://doi.org/10.1002/..

8

An Activating Variant inCTNNB1is Associated with a Sclerosi..:

Peng, Hui ; Jenkins, Zandra A ; White, Ruby...
The Journal of Clinical Endocrinology & Metabolism. 105 (2020) 3 - p. 688-695 , 2020

Link: https://doi.org/10.1210/..

9

A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesi..:

O'Neill, Adam C. ; Kyrousi, Christina ; Klaus, Johannes...
Cell Reports. 25 (2018) 10 - p. 2729-2741.e6 , 2018

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

10

Autosomal dominant frontometaphyseal dysplasia: Delineation..:

Wade, Emma M. ; Jenkins, Zandra A. ; Daniel, Philip B....
American Journal of Medical Genetics Part A. 173 (2017) 7 - p. 1739-1746 , 2017

Link: https://doi.org/10.1002/..

11

Differential regulation of twoFLNAtranscripts explains some..:

Jenkins, Zandra A ; Macharg, Alison ; Chang, Cheng-Yee...
Human Mutation. 39 (2017) 1 - p. 103-113 , 2017

Link: https://doi.org/10.1002/..

12

Diverse phenotypic consequences of mutations affecting the ..:

van Kogelenberg, Margriet ; Clark, Alice R. ; Jenkins, Zandra...
Journal of Molecular Medicine. 93 (2015) 7 - p. 773-782 , 2015

Link: https://doi.org/10.1007/..

13

Mutations in genes encoding the cadherin receptor-ligand pa..:

Cappello, Silvia ; Gray, Mary J ; Badouel, Caroline...
Nature Genetics. 45 (2013) 11 - p. 1300-1308 , 2013

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

14

Dysregulation of FHL1 spliceforms due to an indel mutation ..:

Tiffin, Heather R. ; Jenkins, Zandra A. ; Gray, Mary J....
neurogenetics. 14 (2013) 2 - p. 113-121 , 2013

Link: https://doi.org/10.1007/..

15

RefilinB (FAM101B) targets FilaminA to organize perinuclear..:

Gay, Olivia ; Gilquin, Benoît ; Nakamura, Fumihiko...
Proceedings of the National Academy of Sciences of the United States of America. 108 (2011) 28 - p. 11464-11469 , 2011

Link: https://www.jstor.org/st..