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

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

7 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency.
Tucker EJ, Gutfreund N, Belaud-Rotureau MA, Gilot D, Brun T, Kline BL, Bell KM, Domin-Bernhard M, Théard C, Touraine P, Robevska G, van van den Bergen J, Ayers KL, Sinclair AH, Dötsch V, Jaillard S. Tucker EJ, et al. Among authors: kline bl. Hum Mutat. 2022 Oct;43(10):1443-1453. doi: 10.1002/humu.24432. Epub 2022 Jul 29. Hum Mutat. 2022. PMID: 35801529 Free PMC article.
Premature Ovarian Insufficiency in CLPB Deficiency: Transcriptomic, Proteomic and Phenotypic Insights.
Tucker EJ, Baker MJ, Hock DH, Warren JT, Jaillard S, Bell KM, Sreenivasan R, Bakhshalizadeh S, Hanna CA, Caruana NJ, Wortmann SB, Rahman S, Pitceathly RDS, Donadieu J, Alimi A, Launay V, Coppo P, Christin-Maitre S, Robevska G, van den Bergen J, Kline BL, Ayers KL, Stewart PN, Stroud DA, Stojanovski D, Sinclair AH. Tucker EJ, et al. Among authors: kline bl. J Clin Endocrinol Metab. 2022 Nov 25;107(12):3328-3340. doi: 10.1210/clinem/dgac528. J Clin Endocrinol Metab. 2022. PMID: 36074910 Free PMC article.
Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency.
Bakhshalizadeh S, Hock DH, Siddall NA, Kline BL, Sreenivasan R, Bell KM, Casagranda F, Kamalanathan S, Sahoo J, Narayanan N, Naik D, Suryadevara V, Compton AG, Amarasekera SSC, Kapoor R, Jaillard S, Simpson A, Robevska G, van den Bergen J, Pachernegg S, Ayers KL, Thorburn DR, Stroud DA, Hime GR, Sinclair AH, Tucker EJ. Bakhshalizadeh S, et al. Among authors: kline bl. Hum Genet. 2023 Jul;142(7):879-907. doi: 10.1007/s00439-023-02563-z. Epub 2023 May 6. Hum Genet. 2023. PMID: 37148394 Free PMC article.
Biallelic FANCA variants detected in sisters with isolated premature ovarian insufficiency.
Tucker EJ, Sharp MF, Lokchine A, Bell KM, Palmer CS, Kline BL, Robevska G, van den Bergen J, Dulon J, Stojanovski D, Ayers KL, Touraine P, Crismani W, Jaillard S, Sinclair AH. Tucker EJ, et al. Among authors: kline bl. Clin Genet. 2024 Sep;106(3):321-335. doi: 10.1111/cge.14543. Epub 2024 May 23. Clin Genet. 2024. PMID: 38779778