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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

198 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency.
Akin L, Rizzoti K, Gregory LC, Corredor B, Le Quesne Stabej P, Williams H, Buonocore F, Mouilleron S, Capra V, McGlacken-Byrne SM, Martos-Moreno GÁ, Azmanov DN, Kendirci M, Kurtoglu S, Suntharalingham JP, Galichet C, Gustincich S, Tasic V, Achermann JC, Accogli A, Filipovska A, Tuilpakov A, Maghnie M, Gucev Z, Gonen ZB, Pérez-Jurado LA, Robinson I, Lovell-Badge R, Argente J, Dattani MT. Akin L, et al. Genet Med. 2022 Feb;24(2):384-397. doi: 10.1016/j.gim.2021.09.019. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906446 Free PMC article.
[Genetic disorders and growth hormone].
Pérez Jurado LA, Phillips JA, Argente J. Pérez Jurado LA, et al. An Esp Pediatr. 1992 Jun;36 Suppl 50:57-67. An Esp Pediatr. 1992. PMID: 1416508 Review. Spanish. No abstract available.
[Growth and chronic diseases].
Pozo J, Muñoz MT, Pérez-Jurado LA, Argente J. Pozo J, et al. An Esp Pediatr. 1992 Jun;36 Suppl 50:81-93. An Esp Pediatr. 1992. PMID: 1416511 Review. Spanish. No abstract available.
[Bardet-Biedl syndrome: diagnostic usefulness of exome sequencing].
Martos Moreno GÁ, Rodríguez-Santiago B, González Gutiérrez-Solana L, Pérez-Jurado LA, Argente J. Martos Moreno GÁ, et al. An Pediatr (Barc). 2014 Mar;80(3):e100-1. doi: 10.1016/j.anpedi.2013.09.005. Epub 2013 Oct 26. An Pediatr (Barc). 2014. PMID: 24168823 Free article. Spanish. No abstract available.
Mutations in pregnancy-associated plasma protein A2 cause short stature due to low IGF-I availability.
Dauber A, Muñoz-Calvo MT, Barrios V, Domené HM, Kloverpris S, Serra-Juhé C, Desikan V, Pozo J, Muzumdar R, Martos-Moreno GÁ, Hawkins F, Jasper HG, Conover CA, Frystyk J, Yakar S, Hwa V, Chowen JA, Oxvig C, Rosenfeld RG, Pérez-Jurado LA, Argente J. Dauber A, et al. EMBO Mol Med. 2016 Apr 1;8(4):363-74. doi: 10.15252/emmm.201506106. EMBO Mol Med. 2016. PMID: 26902202 Free PMC article.
198 results