E-LIB Suche - Ergebnisse für: Matera, Ivana

1

Biallelic variants in LIG3 cause a novel mitochondrial neur..:

Bonora, Elena ; Chakrabarty, Sanjiban ; Kellaris, Georgios...
Brain. 144 (2021) 5 - p. 1451-1466 , 2021

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

2

Novel ACTG2 variants disclose allelic heterogeneity and bi‐..:

Matera, Ivana ; Bordo, Domenico ; Di Duca, Marco...
Clinical Genetics. 99 (2020) 3 - p. 430-436 , 2020

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

3

Whole exome sequencing coupled with unbiased functional ana..:

Gui, Hongsheng ; Schriemer, Duco ; Cheng, William W....
Genome Biology. 18 (2017) 1 - p. , 2017

Link: https://doi.org/10.1186/..

4

Genetics of enteric neuropathies:

Brosens, Erwin ; Burns, Alan J. ; Brooks, Alice S....
Developmental Biology. 417 (2016) 2 - p. 198-208 , 2016

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

5

Trans-ethnic meta-analysis of genome-wide association studi..:

Tang, Clara Sze-man ; Gui, Hongsheng ; Kapoor, Ashish...
Human Molecular Genetics. , 2016

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

6

Variants of the ACTG2 gene correlate with degree of severit..:

Matera, Ivana ; Rusmini, Marta ; Guo, Yiran...
European Journal of Human Genetics. 24 (2016) 8 - p. 1211-1215 , 2016

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

7

Expression Variability and Function of the RET Gene in Adul..:

Rusmini, Marta ; Griseri, Paola ; Matera, Ivana...
Journal of Cellular Physiology. 229 (2014) 12 - p. 2027-2037 , 2014

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

8

Correction: Induction of RET Dependent and Independent Pro-..:

Rusmini, Marta ; Griseri, Paola ; Lantieri, Francesca...
PLoS ONE. 8 (2013) 4 - p. , 2013

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

9

Allele-Specific Expression at theRETLocus in Blood and Gut ..:

Matera, Ivana ; Musso, Marco ; Griseri, Paola...
Human Mutation. 34 (2013) 7 - p. 1047-1047 , 2013

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

10

Allele-Specific Expression at theRETLocus in Blood and Gut ..:

Matera, Ivana ; Musso, Marco ; Griseri, Paola...
Human Mutation. 34 (2013) 5 - p. 754-762 , 2013

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

11

Induction of RET Dependent and Independent Pro-Inflammatory..:

Rusmini, Marta ; Griseri, Paola ; Lantieri, Francesca...
PLoS ONE. 8 (2013) 3 - p. e59066 , 2013

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

12

Gpnmb is a melanoblast‐expressed, MITF‐dependent gene:

Loftus, Stacie K. ; Antonellis, Anthony ; Matera, Ivana...
Pigment Cell & Melanoma Research. 22 (2009) 1 - p. 99-110 , 2009

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

13

A sensitized mutagenesis screen identifies Gli3 as a modifi..:

Matera, Ivana ; Watkins-Chow, Dawn E. ; Loftus, Stacie K....
Human Molecular Genetics. 17 (2008) 14 - p. 2118-2131 , 2008

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

14

Geldanamycin promotes nuclear localisation and clearance of..:

Bachetti, Tiziana ; Bocca, Paola ; Borghini, Silvia...
The International Journal of Biochemistry & Cell Biology. 39 (2007) 2 - p. 327-339 , 2007

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

15

Parental origin and somatic mosaicism of PHOX2B mutations i..:

Parodi, Sara ; Bachetti, Tiziana ; Lantieri, Francesca...
Human Mutation. 29 (2007) 1 - p. 206-206 , 2007

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