E-LIB Suche - Ergebnisse für: Lopez, Estelle

1

A recurrent missense variant in EYA3 gene is associated wit..:

Tingaud-Sequeira, Angèle ; Trimouille, Aurélien ; Salaria, Manju...
Human Genetics. 140 (2021) 6 - p. 933-944 , 2021

2

Functional and genetic analyses of ZYG11B provide evidences..:

Tingaud‐Sequeira, Angèle ; Trimouille, Aurélien ; Marlin, Sandrine...
Molecular Genetics & Genomic Medicine. 8 (2020) 10 - p. , 2020

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

3

MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary T..:

Li, Chunmei ; Jensen, Victor L. ; Park, Kwangjin...
PLOS Biology. 14 (2016) 3 - p. e1002416 , 2016

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

4

Mutations inMYT1, encoding the myelin transcription factor ..:

Lopez, Estelle ; Berenguer, Marie ; Tingaud-Sequeira, Angèle...
Journal of Medical Genetics. 53 (2016) 11 - p. 752-760 , 2016

Link: https://doi.org/10.1136/..

5

The oral-facial-digital syndrome gene C2CD3 encodes a posit..:

Thauvin-Robinet, Christel ; Lee, Jaclyn S ; Lopez, Estelle...
Nature Genetics. 46 (2014) 8 - p. 905-911 , 2014

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

6

C5orf42 is the major gene responsible for OFD syndrome type..:

Lopez, Estelle ; Thauvin-Robinet, Christel ; Reversade, Bruno...
Human Genetics. 133 (2013) 3 - p. 367-377 , 2013

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

7

Phosphorylated C/EBPβ Influences a Complex Network Involvin..:

Viart, Victoria ; Varilh, Jessica ; Lopez, Estelle...
PLoS ONE. 8 (2013) 4 - p. e60211 , 2013

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

8

Cohen syndrome is associated with major glycosylation defec..:

Duplomb, Laurence ; Duvet, Sandrine ; Picot, Damien...
Human Molecular Genetics. 23 (2013) 9 - p. 2391-2399 , 2013

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

9

Detailed clinical, genetic and neuroimaging characterizatio..:

Darmency-Stamboul, Véronique ; Burglen, Lydie ; Lopez, Estelle...
European Journal of Medical Genetics. 56 (2013) 6 - p. 301-308 , 2013

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

10

Search for a gene responsible for Floating‐Harbor syndrome ..:

Lopez, Estelle ; Callier, Patrick ; Cormier‐Daire, Valérie...
American Journal of Medical Genetics Part A. 158A (2012) 2 - p. 333-339 , 2012

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

11

NF-E2-related factor 2, a key inducer of antioxidant defens..:

René, Céline ; Lopez, Estelle ; Claustres, Mireille..
Cellular and Molecular Life Sciences. 67 (2010) 13 - p. 2297-2309 , 2010

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

12

The Multiplicity of Serotonin Receptors: Uselessly Diverse ..:

Roth, Bryan L. ; Lopez, Estelle ; Patel, Shamil.
The Neuroscientist. 6 (2000) 4 - p. 252-262 , 2000

Link: https://doi.org/10.1177/..

13

A recurrent missense variant in EYA3 gene is associated wit..:

TINGAUD-SEQUEIRA, Angele ; TRIMOUILLE, Aurelien ; SALARIA, Manju...
0340-6717 (print) 1432-1203 (online). , 2021

Link: https://oskar-bordeaux.f..

14

Functional and genetic analyses of ZYG11B provide evidences..:

Tingaud‐Sequeira, Angèle ; Trimouille, Aurélien ; Marlin, Sandrine...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7549578/. , 2020

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

15

15 years of research on Oral-Facial-Digital syndromes: from..:

Bruel, Ange-Line ; Franco, Brunella ; Duffourd, Yannis...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5557276/. , 2017

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