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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 5 (of 5 Records)

Query Trace: Disease and POU1F1[original query]
Molecular screening of a large cohort of Moroccan patients with congenital hypopituitarism.
Clinical endocrinology 2015 1 82 (6): 876-84.
Fritez Nabila, Sobrier Marie-Laure, Iraqi Hinde, Vié-Luton Marie-Pierre, Netchine Irène, El Annas Abdessamad, Pantel Jacques, Collot Nathalie, Rose Sophie, Piterboth William, Legendre Marie, Chraibi Abdelmjid, Amselem Serge, Kadiri Abdelkrim, Hilal Lati
Genetic analysis of adult Slovenian patients with combined pituitary hormone deficiency.
Endocrine 2019 May .
Bajuk Studen Katica, Stefanija Magdalena Avbelj, Saveanu Alexandru, Barlier Anne, Brue Thierry, Pfeifer Mari
Analysis of Mutation Spectra of 28 Pathogenic Genes Associated With Congenital Hypothyroidism in the Chinese Han Population.
Frontiers in endocrinology 2021 12 695426.
Huang Miao, Lu Xiyan, Dong Guoqing, Li Jianxu, Chen Chengcong, Yu Qiuxia, Li Mingzhu, Su Yuey
IGSF1 mutations are the most frequent genetic aetiology of thyrotropin deficiency.
European journal of endocrinology 2022 10 187 (6): 787-795.
Fourneaux Rachel, Reynaud Rachel, Mougel Gregory, Castets Sarah, Bretones Patricia, Dauriat Benjamin, Edouard Thomas, Raverot Gerald, Barlier Anne, Brue Thierry, Castinetti Frederic, Saveanu Alexand
Genetic diagnosis of congenital hypopituitarism in Turkish patients by a target gene panel: novel pathogenic variants in GHRHR, GLI2, LHX4 and POU1F1 genes.
Archives of endocrinology and metabolism 2023 11 68 e220254.
Tar?k K?rkgöz, Semra Gürsoy, Sezer Acar, Özlem Nalbanto?lu, Beyhan Özkaya, Hüseyin An?l Korkmaz, Filiz Hazan, Behzat Özk
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