Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Edit custom filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2017 2
2018 2
2019 2
2020 5
2021 4
2023 1
2024 5
2025 4
2026 3

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

27 results

Results by year

Filters applied: . Clear all
Page 1
Acromegaly and genetics.
de Lapiscina IM, Baquero C, Castaño L. de Lapiscina IM, et al. Vitam Horm. 2026;131:235-263. doi: 10.1016/bs.vh.2025.10.008. Epub 2025 Dec 16. Vitam Horm. 2026. PMID: 41912295 Review.
Broader impact and outcome of human NR5A1/SF1 variants.
Kouri C, Naamneh-Elzenaty R, de Lapiscina IM, Flück CE. Kouri C, et al. Among authors: de lapiscina im. Best Pract Res Clin Endocrinol Metab. 2025 Jul;39(4):102023. doi: 10.1016/j.beem.2025.102023. Epub 2025 Jul 4. Best Pract Res Clin Endocrinol Metab. 2025. PMID: 40645834 Free article. Review.
Oligogenic analysis across broad phenotypes of 46,XY differences in sex development associated with NR5A1/SF-1 variants: findings from the international SF1next study.
Kouri C, Martinez de Lapiscina I, Naamneh-Elzenaty R, Sommer G, Sauter KS, Flück CE; SF1next study group. Kouri C, et al. Among authors: martinez de lapiscina i. EBioMedicine. 2025 Mar;113:105624. doi: 10.1016/j.ebiom.2025.105624. Epub 2025 Mar 3. EBioMedicine. 2025. PMID: 40037090 Free PMC article.
Novel variant in the CNNM2 gene associated with dominant hypomagnesemia.
García-Castaño A, Madariaga L, Antón-Gamero M, Mejia N, Ponce J, Gómez-Conde S, Pérez de Nanclares G, De la Hoz AB, Martínez R, Saso L, Martínez de LaPiscina I, Urrutia I, Velasco O, Aguayo A, Castaño L, Gaztambide S. García-Castaño A, et al. Among authors: martinez de lapiscina i. PLoS One. 2020 Sep 30;15(9):e0239965. doi: 10.1371/journal.pone.0239965. eCollection 2020. PLoS One. 2020. PMID: 32997713 Free PMC article.
NR5A1/SF-1 Collaborates with Inhibin α and the Androgen Receptor.
Naamneh Elzenaty R, Kouri C, Martinez de Lapiscina I, Sauter KS, Moreno F, Camats-Tarruella N, Flück CE. Naamneh Elzenaty R, et al. Among authors: martinez de lapiscina i. Int J Mol Sci. 2024 Sep 20;25(18):10109. doi: 10.3390/ijms251810109. Int J Mol Sci. 2024. PMID: 39337600 Free PMC article.
Five patients with disorders of calcium metabolism presented with GCM2 gene variants.
García-Castaño A, Madariaga L, Gómez-Conde S, Cordo CLR, López-Iglesias M, Garcia-Fernández Y, Martín A, González P, Goicolea I, de Nanclares GP, De la Hoz AB, Aguayo A, de LaPiscina IM, Martínez R, Saso L, Urrutia I, Velasco O, Castaño L, Gaztambide S. García-Castaño A, et al. Among authors: de lapiscina im. Sci Rep. 2021 Feb 3;11(1):2968. doi: 10.1038/s41598-021-82661-y. Sci Rep. 2021. PMID: 33536578 Free PMC article.
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.
Martinez de Lapiscina I, Kouri C, Aurrekoetxea J, Sanchez M, Naamneh Elzenaty R, Sauter KS, Camats N, Grau G, Rica I, Rodriguez A, Vela A, Cortazar A, Alonso-Cerezo MC, Bahillo P, Bertholt L, Esteva I, Castaño L, Flück CE. Martinez de Lapiscina I, et al. PLoS One. 2023 Jul 11;18(7):e0287515. doi: 10.1371/journal.pone.0287515. eCollection 2023. PLoS One. 2023. PMID: 37432935 Free PMC article.
Forty-One Individuals With Mutations in the AVP-NPII Gene Associated With Familial Neurohypophyseal Diabetes Insipidus.
García-Castaño A, Madariaga L, Pérez de Nanclares G, Vela A, Rica I, Gaztambide S, Martínez R, Martinez de LaPiscina I, Urrutia I, Aguayo A, Velasco O; Familial neurohypophyseal diabetes insipidus Spanish working group; Castaño L. García-Castaño A, et al. Among authors: martinez de lapiscina i. J Clin Endocrinol Metab. 2020 Apr 1;105(4):dgaa069. doi: 10.1210/clinem/dgaa069. J Clin Endocrinol Metab. 2020. PMID: 32052034
27 results