Human Genome Epidemiology Literature Finder
Records 1 - 27 (of 27 Records) |
Query Trace: PROP1[original query] |
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Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD). Clinical endocrinology 2005 Jul 63 (1): 10-8. Turton James P G, Mehta Ameeta, Raza Jamal, Woods Kathryn S, Tiulpakov Anatoly, Cassar Joseph, Chong Kling, Thomas Paul Q, Eunice Marumudi, Ammini Ariachery C, Bouloux Pierre M, Starzyk Jerzy, Hindmarsh Peter C, Dattani Mehul |
High prevalence of PROP1 gene mutations in Hungarian patients with childhood-onset combined anterior pituitary hormone deficiency. Endocrine 2006 Dec 30 (3): 255-60. Halász Zita, Toke Judit, Patócs Attila, Bertalan Rita, Tömböl Zsófia, Sallai Agnes, Hosszú Eva, Muzsnai Agota, Kovács László, Sólyom János, Fekete György, Rácz Káro |
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 |
Functional SNPs within the intron 1 of the PROP1 gene contribute to combined growth hormone deficiency (CPHD). The Journal of clinical endocrinology and metabolism 2012 Sep 97 (9): E1791-7. Godi Michela, Mellone Simona, Tiradani Luigi, Marabese Rita, Bardelli Claudio, Salerno Mariacarolina, Prodam Flavia, Bellone Simonetta, Petri Antonella, Momigliano-Richiardi Patricia, Bona Gianni, Giordano Ma |
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, |
Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations. European journal of human genetics : EJHG 2015 Jun . Dusatkova Petra, Pfäffle Roland, Brown Milton R, Akulevich Natallia, Arnhold Ivo Jp, Kalina Maria A, Kot Karolina, Krzisnik Ciril, Lemos Manuel C, Malikova Jana, Navardauskaite Ruta, Obermannova Barbora, Pribilincova Zuzana, Sallai Agnes, Stipancic Gordana, Verkauskiene Rasa, Cinek Ondrej, Blum Werner F, Parks John S, Austerlitz Frederic, Lebl J |
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 |
The c.301_302delAG PROP1 gene mutation in Romanian patients with multiple pituitary hormone deficiency. Journal of pediatric endocrinology & metabolism : JPEM 2015 Sep 28 (9-10): 993-8. Lazea Cecilia, Grigorescu-Sido Paula, Popp Radu, Legendre Marie, Amselem Serge, Al-Khzouz Camelia, Bucerzan Simona, Cre? Victoria, Cri?an Mirela, Brad Cristi |
Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations. Clinical endocrinology 2017 7 87 (6): 725-732. Madeira Joao Lo, Nishi Mirian Y, Nakaguma Marilena, Benedetti Anna F, Biscotto Isabela Peixoto, Fernandes Thamiris, Pequeno Thiago, Figueiredo Thalita, Franca Marcela M, Correa Fernanda A, Otto Aline P, Abrão Milena, Miras Mirta B, Santos Silvana, Jorge Alexander Al, Costalonga Everlayny F, Mendonca Berenice B, Arnhold Ivo Jp, Carvalho Luciani |
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 |
Next generation sequencing panel based on single molecule molecular inversion probes for detecting genetic variants in children with hypopituitarism. Molecular genetics & genomic medicine 2018 5 6 (4): 514-25. Pérez Millán María I, Vishnopolska Sebastian A, Daly Alexandre Z, Bustamante Juan P, Seilicovich Adriana, Bergadá Ignacio, Braslavsky Débora, Keselman Ana C, Lemons Rosemary M, Mortensen Amanda H, Marti Marcelo A, Camper Sally A, Kitzman Jacob |
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 |
Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR. Endocrine connections 2019 4 8 (5): 590-595. Nakaguma Marilena, Correa Fernanda A, Santana Lucas S, Benedetti Anna F F, Perez Ricardo V, Huayllas Martha K P, Miras Mirta B, Funari Mariana F A, Lerario Antonio M, Mendonca Berenice B, Carvalho Luciani R S, Jorge Alexander A L, Arnhold Ivo J |
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 |
Mutation spectrum analysis of 29 causative genes in 43 Chinese patients with congenital hypothyroidism. Molecular medicine reports 2020 Apr . Wang Huijuan, Kong Xiaohong, Pei Yanrui, Cui Xuemei, Zhu Yijie, He Zixuan, Wang Yanxia, Zhang Lirong, Zhuo Lixia, Chen Chao, Yan Xiao |
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 |
Mutations Within the Transcription Factor PROP1 in a Cohort of Turkish Patients with Combined Pituitary Hormone Deficiency. Journal of clinical research in pediatric endocrinology 2020 1 12 (3): 261-268. Bulut Fatma Derya, Özdemir Dilek Semine, Kotan Damla, Mengen Eda, Gürbüz Fatih, Yüksel Bilg |
The Thousand Polish Genomes-A Database of Polish Variant Allele Frequencies. International journal of molecular sciences 2022 5 23 (9): . Kaja El?bieta, Lejman Adrian, Sielski Dawid, Sypniewski Mateusz, Gambin Tomasz, Dawidziuk Mateusz, Suchocki Tomasz, Golik Pawe?, Wojtaszewska Marzena, Mroczek Magdalena, St?pie? Maria, Szyda Joanna, Lisiak-Teodorczyk Karolina, Wolbach Filip, Ko?odziejska Daria, Ferdyn Katarzyna, D?browski Maciej, Wo?na Alicja, ?ytkiewicz Marcin, Bodora-Troi?ska Anna, Elikowski Waldemar, Król Zbigniew J, Zaczy?ski Artur, Pawlak Agnieszka, Gil Robert, Wierzba Waldemar, Dobosz Paula, Zawadzka Katarzyna, Zawadzki Pawe?, Sztromwasser Paw |
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 |
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- Page last updated:Apr 22, 2024
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