Human Genome Epidemiology Literature Finder
|
Records 1 - 4 (of 4 Records) |
| Query Trace: Disease and GHRHR[original query] |
|---|
| A recurrent signal peptide mutation in the growth hormone releasing hormone receptor with defective translocation to the cell surface and isolated growth hormone deficiency. The Journal of clinical endocrinology and metabolism 2009 Oct 94 (10): 3939-47. Godi Michela, Mellone Simona, Petri Antonella, Arrigo Teresa, Bardelli Claudio, Corrado Lucia, Bellone Simonetta, Prodam Flavia, Momigliano-Richiardi Patricia, Bona Gianni, Giordano Ma |
| 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 |
| Whole Exome Sequencing Uncovered the Genetic Architecture of Growth Hormone Deficiency Patients. Frontiers in endocrinology 2021 9 12 711991. Yu Chenxi, Xie Bobo, Zhao Zhengye, Zhao Sen, Liu Lian, Cheng Xi, Li Xiaoxin, Cao Bingyan, Shao Jiashen, Chen Jiajia, Zhao Hengqiang, Yan Zihui, Su Chang, Niu Yuchen, Song Yanning, Wei Liya, Wang Yi, Ren Xiaoya, Fan Lijun, Zhang Beibei, Li Chuan, Gui Baoheng, Zhang Yuanqiang, Wang Lianlei, Chen Shaoke, Zhang Jianguo, Wu Zhihong, Gong Chunxiu, Fan Xin, Wu N |
| 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 |
- Page last reviewed:Feb 1, 2024
- Content source: