E-LIB Suche - Ergebnisse für: Cuvertino, Sara

1

Effect of a retinoic acid analogue on BMP-driven pluripoten..:

Mancini, Fabrizio E. ; Humphreys, Paul E. A. ; Woods, Steven...
Scientific Reports. 14 (2024) 1 - p. , 2024

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

2

Germline intergenic duplications at Xq26.1 underlie Bazex–D..:

Liu, Yanshan ; Banka, Siddharth ; Huang, Yingzhi...
British Journal of Dermatology. 187 (2022) 6 - p. 948-961 , 2022

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

3

Impaired eIF5A function causes a Mendelian disorder that is..:

Faundes, Víctor ; Jennings, Martin D. ; Crilly, Siobhan...
Nature Communications. 12 (2021) 1 - p. , 2021

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

4

Haploinsufficiency of ATP6V0C possibly underlies 16p13.3 de..:

Tinker, Rory J ; Burghel, George J ; Garg, Shruti...
American Journal of Medical Genetics Part A. 185 (2020) 1 - p. 196-202 , 2020

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

5

Correction: A restricted spectrum of missense KMT2D variant..:

Cuvertino, Sara ; Hartill, Verity ; Colyer, Alice...
Genetics in Medicine. 22 (2020) 5 - p. 980 , 2020

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

6

A restricted spectrum of missense KMT2D variants cause a mu..:

Cuvertino, Sara ; Hartill, Verity ; Colyer, Alice...
Genetics in Medicine. 22 (2020) 5 - p. 867-877 , 2020

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

7

Mutations in PCYT2 disrupt etherlipid biosynthesis and caus..:

Vaz, Frédéric M ; McDermott, John H ; Alders, Mariëlle...
Brain. 142 (2019) 11 - p. 3382-3397 , 2019

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

8

ACTB Loss-of-Function Mutations Result in a Pleiotropic Dev..:

Cuvertino, Sara ; Stuart, Helen M. ; Chandler, Kate E....
The American Journal of Human Genetics. 101 (2017) 6 - p. 1021-1033 , 2017

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

9

SOX7 promotes the maintenance and proliferation of B cell p..:

Cuvertino, Sara ; Filiciotto, Genny ; Masurekar, Ashish...
Oncotarget. 8 (2016) 39 - p. 64974-64983 , 2016

Link: https://doi.org/10.18632..

10

In Vivo Repopulating Activity Emerges at the Onset of Hemat..:

Pearson, Stella ; Cuvertino, Sara ; Fleury, Maud..
Stem Cell Reports. 4 (2015) 3 - p. 431-444 , 2015

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

11

The MET oncogene transforms human primary bone-derived cell..:

Dani, Nadia ; Olivero, Martina ; Mareschi, Katia...
Journal of Bone and Mineral Research. 27 (2012) 6 - p. 1322-1334 , 2012

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

12

Germline intergenic duplications at Xq26.1 underlie Bazex-D..:

Liu, Yanshan ; Banka, Siddharth ; Huang, Yingzhi...
Liu , Y , Banka , S , Huang , Y , Hardman-Smart , J , Pye , D , Torrelo , A , Beaman , G M , Kazanietz , M G , Baker , M J , Ferrazzano , C , Shi , C , Orozco , G , Eyre , S , van Geel , M , Bygum , A , Fischer , J , Miedzybrodzka , Z , Abuzahra , F , Rübben , A , Cuvertino , S , Ellingford , J M , Smith , M J , Evans , D G , Weppner-Parren , L J M T , van Steensel , M A M , Chaudhary , I H , Mangham , D C , Lear , J T , Paus , R , Frank , J , Newman , W G & Zhang , X 2022 , ' Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndrome ' , British Journal of Dermatology . https://doi.org/10.1111/bjd.21842. , 2022

Link: https://research.manches..

13

Impaired eIF5A function causes a Mendelian disorder that is..:

Faundes, Víctor ; Jennings, Martin D ; Crilly, Siobhan...
Faundes , V , Jennings , M D , Crilly , S , Legraie , S , Withers , S E , Cuvertino , S , Davies , S J , Douglas , A G L , Fry , A E , Harrison , V , Amiel , J , Lehalle , D , Newman , W G , Newkirk , P , Ranells , J , Splitt , M , Cross , L A , Saunders , C J , Sullivan , B R , Granadillo , J L , Gordon , C T , Kasher , P R , Pavitt , G D & Banka , S 2021 , ' Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine ' , Nature Communications , vol. 12 , no. 1 , 833 . https://doi.org/10.1038/s41467-021-21053-2. , 2021

Link: https://research.manches..

14

Impaired eIF5A function causes a Mendelian disorder that is..:

Faundes, Víctor ; Jennings, Martin D ; Crilly, Siobhan...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7864902/. , 2021

Link: http://www.ncbi.nlm.nih...

15

Impaired eIF5A function causes a Mendelian disorder that is..:

Faúndes Gómez, Víctor Manuel ; Jennings, Martin D ; Crilly, Siobhan...
Nature Communications (2021) 12:833. , 2021

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