Arrate Pereda

Gasteiz / Vitoria, PV, Spain

Last Updated: 09/26/2026

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Found 41 publications

Concordant epigenetic and discordant clinical PHP1B/iPPSD3 manifestations in two monozygotic adolescent twins.

Concordant epigenetic and discordant clinical PHP1B/iPPSD3 manifestations in two monozygotic adolescent twins.

Journal: Clinical epigenetics
Published: October 29, 2025

Germline-derived GNAS-Gsα variants associated with both gain-of-function and loss-of-function phenotypes.

Germline-derived GNAS-Gsα variants associated with both gain-of-function and loss-of-function phenotypes.

Journal: European journal of endocrinology
Published: December 06, 2024

Heterodisomy in the GNAS locus is also a cause of pseudohypoparathyroidism type 1B (iPPSD3).

Heterodisomy in the GNAS locus is also a cause of pseudohypoparathyroidism type 1B (iPPSD3).

Journal: Frontiers in endocrinology
Published: October 02, 2024

Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis.

Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis.

Journal: Clinical epigenetics
Published: April 25, 2024

Choosing the Best Tissue and Technique to Detect Mosaicism in Fibrous Dysplasia/McCune-Albright Syndrome (FD/MAS).

Choosing the Best Tissue and Technique to Detect Mosaicism in Fibrous Dysplasia/McCune-Albright Syndrome (FD/MAS).

Journal: Genes
Published: December 15, 2023

Incidental finding at methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA): how to proceed?

Incidental finding at methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA): how to proceed?

Journal: Frontiers in genetics
Published: August 21, 2023

Vitamin D deficiency in adulthood: Presentation of 2familial cases simulating pseudohypoparathyroidism

Vitamin D deficiency in adulthood: Presentation of 2familial cases simulating pseudohypoparathyroidism

Journal: Medicina clinica
Published: April 03, 2023

Recombinant growth hormone improves growth and adult height in patients with maternal inactivating GNAS mutations.

Recombinant growth hormone improves growth and adult height in patients with maternal inactivating GNAS mutations.

Journal: European journal of endocrinology
Published: March 29, 2023

Analysis of a large case series of fatal familial insomnia to determine tests with the highest diagnostic value.

Analysis of a large case series of fatal familial insomnia to determine tests with the highest diagnostic value.

Journal: Journal of neuropathology and experimental neurology
Published: December 02, 2022

Frequency of de novo variants and parental mosaicism in families with inactivating PTH/PTHrP signaling disorder type 2.

Frequency of de novo variants and parental mosaicism in families with inactivating PTH/PTHrP signaling disorder type 2.

Journal: Frontiers in endocrinology
Published: September 27, 2022

Growth patterns and outcomes of growth hormone therapy in patients with acrodysostosis.

Growth patterns and outcomes of growth hormone therapy in patients with acrodysostosis.

Journal: Journal of endocrinological investigation
Published: September 08, 2022

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: May 23, 2022
Showing 1-12 of 41

Last Updated: 09/26/2026