E-LIB Suche - Ergebnisse für: de Nanclares, Guiomar Perez

1

Recombinant growth hormone improves growth and adult height..:

Ertl, Diana-Alexandra ; de Nanclares, Guiomar Perez ; Jüppner, Harald...
European Journal of Endocrinology. 189 (2023) 1 - p. 123-131 , 2023

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

2

Imprinting disorders:

Eggermann, Thomas ; Monk, David ; de Nanclares, Guiomar Perez...
Nature Reviews Disease Primers. 9 (2023) 1 - p. , 2023

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

3

Trans-acting genetic variants causing multilocus imprinting..:

Eggermann, Thomas ; Yapici, Elzem ; Bliek, Jet...
Clinical Epigenetics. 14 (2022) 1 - p. , 2022

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

4

First step towards a consensus strategy for multi-locus dia..:

Mackay, Deborah ; Bliek, Jet ; Kagami, Masayo...
Clinical Epigenetics. 14 (2022) 1 - p. , 2022

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

5

Novel genetic variants of KHDC3L and other members of the s..:

Pignata, Laura ; Cecere, Francesco ; Verma, Ankit...
Clinical Epigenetics. 14 (2022) 1 - p. , 2022

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

6

The role of ZFP57 and additional KRAB-zinc finger proteins ..:

Monteagudo-Sánchez, Ana ; Hernandez Mora, Jose Ramon ; Simon, Carlos...
Nucleic Acids Research. 48 (2020) 20 - p. 11394-11407 , 2020

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

7

The most recurrent monogenic disorders that overlap with th..:

Vidal, S. ; Brandi, N. ; Pacheco, P....
European Journal of Paediatric Neurology. 23 (2019) 4 - p. 609-620 , 2019

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

8

Differences in expression rather than methylation at placen..:

Monteagudo-Sánchez, Ana ; Sánchez-Delgado, Marta ; Mora, Jose Ramon Hernandez...
Clinical Epigenetics. 11 (2019) 1 - p. , 2019

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

9

Wind of change in pseudohypoparathyroidism and related diso..:

Lecumberri, Beatriz ; Martos-Moreno, Gabriel Ángel ; de Nanclares, Guiomar Perez
Endocrinología, Diabetes y Nutrición (English ed.). 65 (2018) 8 - p. 425-427 , 2018

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

10

Mutations causing acrodysostosis-2 facilitate activation of..:

Briet, Claire ; Pereda, Arrate ; Le Stunff, Catherine...
Human Molecular Genetics. 26 (2017) 20 - p. 3883-3894 , 2017

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

11

Erratum to: Imprinting disorders: a group of congenital dis..:

Eggermann, Thomas ; de Nanclares, Guiomar Perez ; Maher, Eamonn R....
Clinical Epigenetics. 8 (2016) 1 - p. , 2016

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

12

From pseudohypoparathyroidism to inactivating PTH/PTHrP sig..:

Thiele, Susanne ; Mantovani, Giovanna ; Barlier, Anne...
European Journal of Endocrinology. 175 (2016) 6 - p. P1-P17 , 2016

Link: https://doi.org/10.1530/..

13

Multilocus methylation defects in imprinting disorders:

Mackay, Deborah J.G. ; Eggermann, Thomas ; Buiting, Karin...
Biomolecular Concepts. 6 (2015) 1 - p. 47-57 , 2015

Link: https://doi.org/10.1515/..

14

Report of two novel mutations in PTHLH associated with brac..:

Thomas‐Teinturier, Cecile ; Pereda, Arrate ; Garin, Intza...
American Journal of Medical Genetics Part A. 170 (2015) 3 - p. 734-742 , 2015

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

15

Novel Microdeletions Affecting the GNAS Locus in Pseudohypo..:

Garin, Intza ; Elli, Francesca M. ; Linglart, Agnes...
The Journal of Clinical Endocrinology & Metabolism. 100 (2015) 4 - p. E681-E687 , 2015

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