Publications by the researcher in collaboration with Idoia Martínez de Lapiscina Martín (9)

2024

  1. Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development

    eBioMedicine, Vol. 99

2023

  1. Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations

    PloS one, Vol. 18, Núm. 7, pp. e0287515

2021

  1. Incidence of diabetes mellitus and associated risk factors in the adult population of the Basque country, Spain

    Scientific Reports, Vol. 11, Núm. 1

2020

  1. Clinical ande molecular characterization of dsd patients: impact of next generation sequencing in diagnosis

    Clinical ande molecular characterization of dsd patients: impact of next generation sequencing in diagnosis

  2. Forty-One Individuals With Mutations in the AVP-NPII Gene Associated With Familial Neurohypophyseal Diabetes Insipidus

    The Journal of clinical endocrinology and metabolism, Vol. 105, Núm. 4

  3. Rare Germline DICER1 Variants in Pediatric Patients With Cushing's Disease: What Is Their Role?

    Frontiers in Endocrinology, Vol. 11

  4. Response to Letter to the Editor: "Forty-One Individuals with Mutations in the AVP-NPII Gene Associated with Familial Neurohypophyseal Diabetes Insipidus

    The Journal of clinical endocrinology and metabolism, Vol. 105, Núm. 7

2019

  1. 9.8 Hiperpituitarismo.

    Manual de pediatría (Ergon), pp. 754-757

  2. Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic Disease

    Frontiers in Genetics, Vol. 10