Human Genome Epidemiology Literature Finder
Records 1 - 29 (of 29 Records) |
Query Trace: POU1F1[original query] |
---|
Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency. The Journal of clinical endocrinology and metabolism 2005 Aug 90 (8): 4762-70. Turton James P G, Reynaud Rachel, Mehta Ameeta, Torpiano John, Saveanu Alexandru, Woods Kathryn S, Tiulpakov Anatoly, Zdravkovic Vera, Hamilton Jill, Attard-Montalto Simon, Parascandalo Ray, Vella Cecil, Clayton Peter E, Shalet Stephen, Barton John, Brue Thierry, Dattani Mehul |
Genetic variation in the growth hormone synthesis pathway in relation to circulating insulin-like growth factor-I, insulin-like growth factor binding protein-3, and breast cancer risk: results from the European prospective investigation into cancer and nutrition study. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2005 Oct 14 (10): 2316-25. Canzian Federico, McKay James D, Cleveland Rebecca J, Dossus Laure, Biessy Carine, Boillot Catherine, Rinaldi Sabina, Llewellyn Midge, Chajès Véronique, Clavel-Chapelon Françoise, Téhard Bertrand, Chang-Claude Jenny, Linseisen Jakob, Lahmann Petra H, Pischon Tobias, Trichopoulos Dimitrios, Trichopoulou Antonia, Zilis Dimosthenes, Palli Domenico, Tumino Rosario, Vineis Paolo, Berrino Franco, Bueno-de-Mesquita H Bas, van Gils Carla H, Peeters Petra H M, Pera Guillem, Barricarte Aurelio, Chirlaque María-Dolores, Quirós J Ramon, Larrañaga Nerea, Martínez-García Carmen, Allen Naomi E, Key Timothy J, Bingham Sheila A, Khaw Kay-Tee, Slimani Nadia, Norat Teresa, Riboli Elio, Kaaks Rudo |
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 |
CTNNB1 gene mutations, pituitary transcription factors, and MicroRNA expression involvement in the pathogenesis of adamantinomatous craniopharyngiomas. Hormones & cancer 2011 7 1 (4): 187-96. Campanini Marina Lanciotti, Colli Leandro Machado, Paixao Beatriz Maria Carvalho, Cabral Tatiana Pereira Freitas, Amaral Fernando Colbari, Machado Helio Rubens, Neder Luciano Serafin, Saggioro Fabiano, Moreira Ayrton Custodio, Antonini Sonir Roberto Rauber, de Castro Margar |
Pituitary stalk dysgenesis-induced hypopituitarism in adult patients: prevalence, evolution of hormone dysfunction and genetic analysis. Neuroendocrinology 2011 93 (3): 181-8. Fernandez-Rodriguez Eva, Quinteiro Celsa, Barreiro Jesus, Marazuela Mónica, Pereiro Inmaculada, Peinó Roberto, Cabezas-Agrícola Jose Manuel, Dominguez Fernando, Casanueva Felipe F, Bernabeu Ignac |
[Genetic background of inherited multiple pituitary hormone deficiency. Mutations of PROP1 gene in Hungary]. Orvosi hetilap 2011 Feb 152 (6): 221-32. Halász Zi |
Gradual loss of ACTH due to a novel mutation in LHX4: comprehensive mutation screening in Japanese patients with congenital hypopituitarism. PloS one 2012 7 (9): 9. Takagi M, Ishii T, Inokuchi M, Amano N, Narumi S, Asakura Y, Muroya K, Hasegawa Y, Adachi M, Hasegawa T |
Molecular analysis of PROP1, POU1F1, LHX3, and HESX1 in Turkish patients with combined pituitary hormone deficiency: a multicenter study. Endocrine 2015 Jun 49 (2): 479-91. Ba? Firdevs, Uyguner Z Oya, Darendeliler Feyza, Aycan Zehra, Çetinkaya Ergun, Berbero?lu Merih, ?iklar Zeynep, Öcal Gönül, Darcan ?ükran, Gök?en Damla, Topalo?lu Ali Kemal, Yüksel Bilgin, Özbek Mehmet Nuri, Ercan Oya, Evliyao?lu Olcay, Çetinkaya Semra, ?en Ya?ar, Atabek Emre, Toksoy Güven, Aydin Banu Küçükemre, Bundak Rüvey |
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, |
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 |
Associations of POU1F1 gene polymorphisms and protein structure changes with growth traits and blood metabolites in two Iranian sheep breeds. Journal of genetics 2015 1 93 (3): 831-5. Sadeghi Mostafa, Jalil-Sarghale Ali, Moradi-Shahrbabak Mohamm |
POU class 1 homeobox 1 gene polymorphisms associated with growth traits in Korean native chicken. Asian-Australasian journal of animal sciences 2018 May 31 (5): 643-649. Manjula Prabuddha, Choi Nuri, Seo Dongwon, Lee Jun He |
HPA Axis Genes, and Their Interaction with Childhood Maltreatment, are Related to Cortisol Levels and Stress-Related Phenotypes. Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology 2017 Jun . Gerritsen Lotte, Milaneschi Yuri, Vinkers Christiaan, van Hemert Bert, van Velzen Laura, Schmaal Lianne, Penninx Brenda W |
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 |
Genetic screening of regulatory regions of pituitary transcription factors in patients with idiopathic pituitary hormone deficiencies. Pituitary 2017 12 21 (1): 76-83. Elizabeth Melitza, Hokken-Koelega Anita C S, Schuilwerve Joyce, Peeters Robin P, Visser Theo J, de Graaff Laura C |
A novel missense mutation (L280V) within POU1F1 gene strongly affects litter size and growth traits in goat. Theriogenology 2019 6 135 198-203. Zhang Yanghai, Cui Wenbo, Yang Han, Wang Min, Yan Hailong, Zhu Haijing, Liu Jinwang, Qu Lei, Lan Xianyong, Pan Chuanyi |
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 |
Associations between genetic variants of the POU1F1 gene and production traits in Saanen goats. Archives animal breeding 2019 62 (1): 249-255. Isik Raziye, Bilgen Güldeh |
Genetic spectrum and predictors of mutations in four known genes in Asian Indian patients with growth hormone deficiency and orthotopic posterior pituitary: an emphasis on regional genetic diversity. Pituitary 2020 9 23 (6): 701-715. Kale Shantanu, Gada Jugal V, Jadhav Swati, Lila Anurag R, Sarathi Vijaya, Budyal Sweta, Patt Hiren, Goroshi Manjunath R, Thadani Puja M, Arya Sneha, Kamble Aparna A, Patil Virendra A, Acharya Shrikrishna, Sankhe Shilpa, Shivane Vyankatesh, Raghavan Vijaya, Bandgar Tushar R, Shah Nalini |
SEMA3A and IGSF10 Are Novel Contributors to Combined Pituitary Hormone Deficiency (CPHD). Frontiers in endocrinology 2020 7 11 368. Budny Bartlomiej, Zemojtel Tomasz, Kaluzna Malgorzata, Gut Pawel, Niedziela Marek, Obara-Moszynska Monika, Rabska-Pietrzak Barbara, Karmelita-Katulska Katarzyna, Stajgis Marek, Ambroziak Urszula, Bednarczuk Tomasz, Wrotkowska Elzbieta, Bukowska-Olech Ewelina, Jamsheer Aleksander, Ruchala Marek, Ziemnicka Katarzy |
A novel 23?bp indel mutation in PRL gene is associated with growth traits in Luxi Blackhead sheep. Animal biotechnology 2020 4 32 (6): 740-747. Mao Cui, Akhatayeva Zhanerke, Cheng Haijian, Zhang Guoping, Jiang Fugui, Meng Xianfeng, Yao Yuni, Elnour Ibrahim Elsaeid, Lan Xianyong, Song Enlia |
A patient with combined pituitary hormone deficiency and osteogenesis imperfecta associated with mutations in LHX4 and COL1A2. Journal of advanced research 2020 2 21 121-127. Hemwong Nalinee, Phokaew Chureerat, Srichomthong Chalurmpon, Tongkobpetch Siraprapa, Srilanchakon Khomsak, Supornsilchai Vichit, Suphapeetiporn Kanya, Porntaveetus Thantrira, Shotelersuk Voras |
A novel POU1F1 pathogenic variant: Two familial case reports with phenotype expansion. Clinical genetics 2021 8 100 (5): 641-642. Musa Noha, Elmonem Mohamed A, Beetz Christian, Hafez Mona, Hassan Mona, Rolfs Arndt, Selim Laila, Elkhateeb No |
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 |
POU1F1 mutations in combined pituitary hormone deficiency: differing spectrum of mutations in a Western-Indian cohort and systematic analysis of world literature. Pituitary 2021 3 24 (5): 657-669. Jadhav Swati, Diwaker Chakra, Lila Anurag R, Gada Jugal V, Kale Shantanu, Sarathi Vijaya, Thadani Puja M, Arya Sneha, Patil Virendra A, Shah Nalini S, Bandgar Tushar |
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 |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 22, 2024
- Content source: