E-LIB Suche - Ergebnisse für: Domene, Horacio M

1

An in vivo functional assay to characterize human STAT5B ge..:

Landi, Estefanía ; Karabatas, Liliana ; Rodríguez Gomez, Tomás...
Human Molecular Genetics. 32 (2023) 15 - p. 2473-2484 , 2023

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

2

Novel Insulin-Like Growth Factor 1 Gene Mutation: Broadenin..:

Giacomozzi, Claudio ; Martin, Ayelen ; Fernández, María Celia...
The Journal of Clinical Endocrinology & Metabolism. 108 (2022) 6 - p. 1355-1369 , 2022

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

3

Physiology of GH action and associated human disorders:

Domené, Horacio M. ; Wit, Jan M. ; Frank, Stuart J.
Molecular and Cellular Endocrinology. 520 (2021) - p. 111078 , 2021

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

4

Applying Bioinformatic Platforms, In Vitro, and In Vivo Fun..:

Domené, Sabina ; Scaglia, Paula A. ; Gutiérrez, Mariana L..
Cells. 10 (2021) 8 - p. 2063 , 2021

Link: https://doi.org/10.3390/..

5

MON-716 A Novel Human Heterozygous STAT5B Variant Leads to ..:

Domene, Sabina ; Plazas, Paola ; Domene, Horacio M...
Journal of the Endocrine Society. 4 (2020) Supplement_1 - p. , 2020

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

6

The role of acid-labile subunit (ALS) in the modulation of ..:

Domené, Sabina ; Domené, Horacio M.
Molecular and Cellular Endocrinology. 518 (2020) - p. 111006 , 2020

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

7

p.R209H GH1 variant challenges short stature assessment:

Sanguineti, Nora ; Braslavsky, Debora ; Scaglia, Paula A....
Growth Hormone & IGF Research. 50 (2020) - p. 23-26 , 2020

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

8

Genetic disorders of GH action pathway:

Domené, Horacio M. ; Fierro-Carrión, Gustavo
Growth Hormone & IGF Research. 38 (2018) - p. 19-23 , 2018

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

9

Same Phenotype in Children with Growth Hormone Deficiency a..:

Ioimo, Irene ; Guarracino, Carmen ; Meazza, Cristina..
Case Reports in Pediatrics. 2018 (2018) - p. 1-4 , 2018

Link: https://doi.org/10.1155/..

10

Characterization of four Latin American families confirms p..:

Scaglia, Paula A. ; Keselman, Ana C. ; Braslavsky, Débora...
Clinical Endocrinology. 87 (2017) 3 - p. 300-311 , 2017

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

11

Mutations in pregnancy‐associated plasma protein A2 cause s..:

Dauber, Andrew ; Muñoz‐Calvo, María T ; Barrios, Vicente...
EMBO Molecular Medicine. 8 (2016) 4 - p. 363-374 , 2016

Link: https://doi.org/10.15252..

12

Treatment With Recombinant Human Insulin-Like Growth Factor..:

Muñoz-Calvo, María T. ; Barrios, Vicente ; Pozo, Jesús...
The Journal of Clinical Endocrinology & Metabolism. 101 (2016) 11 - p. 3879-3883 , 2016

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

13

Assessment of pathogenicity of natural IGFALS gene variants..:

Martucci, Lucía C. ; Gutiérrez, Mariana L. ; Karabatas, Liliana M....
Molecular and Cellular Endocrinology. 429 (2016) - p. 19-28 , 2016

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

14

A Novel Missense Mutation in the SH2 Domain of theSTAT5BGen..:

Scaglia, Paula A. ; Martínez, Alicia S. ; Feigerlová, Eva...
The Journal of Clinical Endocrinology & Metabolism. 97 (2012) 5 - p. E830-E839 , 2012

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

15

Acid-labile subunit (ALS) deficiency:

Domené, Horacio M. ; Hwa, Vivian ; Jasper, Héctor G..
Best Practice & Research Clinical Endocrinology & Metabolism. 25 (2011) 1 - p. 101-113 , 2011

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