Human Genome Epidemiology Literature Finder
Records 1 - 6 (of 6 Records) |
Query Trace: Abnormalities and POU1F1[original query] |
---|
Positive association between POU1F1 and mental retardation in young females in the Chinese Han population. Human molecular genetics 2006 Apr 15 (7): 1237-43. Sun Yun, Zhang Fuchang, Gao Jianjun, Gao Xiaocai, Guo Tingwei, Zhang Kejin, Shi Yongyong, Zheng Zijian, Tang Wei, Zheng Yonglan, Li Sheng, Li Xingwang, Feng Guoyin, Shen Xiaoming, He L |
Phosphodiesterase 8B gene variants are associated with serum TSH levels and thyroid function.
American journal of human genetics 2008 Jun 82 (6): 1270-80. Arnaud-Lopez Lisette, Usala Gianluca, Ceresini Graziano, Mitchell Braxton D, Pilia Maria Grazia, Piras Maria Grazia, Sestu Natascia, Maschio Andrea, Busonero Fabio, Albai Giuseppe, Dei Mariano, Lai Sandra, Mulas Antonella, Crisponi Laura, Tanaka Toshiko, Bandinelli Stefania, Guralnik Jack M, Loi Angela, Balaci Lenuta, Sole Gabriella, Prinzis Alessia, Mariotti Stefano, Shuldiner Alan R, Cao Antonio, Schlessinger David, Uda Manuela, Abecasis Gonçalo R, Nagaraja Ramaiah, Sanna Serena, Naitza Silv |
Mutation and gene copy number analyses of six pituitary transcription factor genes in 71 patients with combined pituitary hormone deficiency: identification of a single patient with LHX4 deletion. The Journal of clinical endocrinology and metabolism 2010 Aug 95 (8): 4043-7. Dateki Sumito, Fukami Maki, Uematsu Ayumi, Kaji Masayuki, Iso Manami, Ono Makoto, Mizota Michiyo, Yokoya Susumu, Motomura Katsuaki, Kinoshita Eiichi, Moriuchi Hiroyuki, Ogata Tsuto |
Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort. Clinical endocrinology 2015 Jul . De Rienzo Francesca, Mellone Simona, Bellone Simonetta, Babu Deepak, Fusco Ileana, Prodam Flavia, Petri Antonella, Muniswamy Ranjith, De Luca Filippo, Salerno Mariacarolina, Momigliano-Richardi Patricia, Bona Gianni, Giordano Mara, |
Rare Frequency of Mutations in Pituitary Transcription Factor Genes in Combined Pituitary Hormone or Isolated Growth Hormone Deficiencies in Korea. Yonsei medical journal 2017 May 58 (3): 527-532. Choi Jin Ho, Jung Chang Woo, Kang Eungu, Kim Yoon Myung, Heo Sun Hee, Lee Beom Hee, Kim Gu Hwan, Yoo Han Wo |
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 |
- Page last reviewed:Feb 1, 2024
- Page last updated:Mar 25, 2024
- Content source: