Hypopituitarism
What's New
Last Posted: May 15, 2024
- Exome Sequencing has a high diagnostic rate in sporadic congenital hypopituitarism and reveals novel candidate genes.
Julian Martinez-Mayer, et al. The Journal of clinical endocrinology and metabolism 2024 0 - Genetic diagnosis of congenital hypopituitarism in Turkish patients by a target gene panel: novel pathogenic variants in GHRHR, GLI2, LHX4 and POU1F1 genes.
Tar?k K?rkgöz, et al. Archives of endocrinology and metabolism 2023 0 e220254 - Neuropathy target esterase activity predicts retinopathy among PNPLA6 disorders.
James Liu, et al. bioRxiv : the preprint server for biology 2023 0 - Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes.
Correa Fernanda A, et al. Clinical endocrinology 2017 0 (3) 425-431 - Next generation sequencing panel based on single molecule molecular inversion probes for detecting genetic variants in children with hypopituitarism.
Pérez Millán María I, et al. Molecular genetics & genomic medicine 2018 0 (4) 514-25 - Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR.
Nakaguma Marilena, et al. Endocrine connections 2019 0 (5) 590-595 - Evidence That the Etiology of Congenital Hypopituitarism Has a Major Genetic Component but Is Infrequently Monogenic.
Jee Youn Hee, et al. Frontiers in genetics 2021 0 697549 - Next-generation sequencing-based mutational analysis of idiopathic short stature and isolated growth hormone deficiency in Korean pediatric patients.
Ahn Jungmin, et al. Molecular and cellular endocrinology 2021 0 111489 - Apoplexy in sporadic pituitary adenomas: a single referral center experience and AIP mutation analysis.
Fialho Christhiane, et al. Archives of endocrinology and metabolism 2021 0 (3) 295-304 - Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism.
Schänzer Anne, et al. Annals of neurology 2021 0 (1) 143-158
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Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
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