Human Genome Epidemiology Literature Finder
Records 1 - 16 (of 16 Records) |
Query Trace: LHX3[original query] |
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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 |
A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.
Human molecular genetics 2010 Jun 19 (11): 2303-12. Okada Yukinori, Kamatani Yoichiro, Takahashi Atsushi, Matsuda Koichi, Hosono Naoya, Ohmiya Hiroko, Daigo Yataro, Yamamoto Kazuhiko, Kubo Michiaki, Nakamura Yusuke, Kamatani Naoyu |
Replication study of the association of SNPs in the LHX3-QSOX2 and IGF1 loci with adult height in the Japanese population; wide-ranging comparison of each SNP genotype distribution. Legal medicine (Tokyo, Japan) 2012 Jul 14 (4): 205-8. Fujihara Junko, Takeshita Haruo, Kimura-Kataoka Kaori, Yuasa Isao, Iida Reiko, Ueki Misuzu, Nagao Masataka, Kominato Yoshihiko, Yasuda Toshihi |
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 |
A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.
PLoS genetics 2013 9 (2): e1003266. Porcu Eleonora, Medici Marco, Pistis Giorgio, Volpato Claudia B, Wilson Scott G, Cappola Anne R, Bos Steffan D, Deelen Joris, den Heijer Martin, Freathy Rachel M, Lahti Jari, Liu Chunyu, Lopez Lorna M, Nolte Ilja M, O'Connell Jeffrey R, Tanaka Toshiko, Trompet Stella, Arnold Alice, Bandinelli Stefania, Beekman Marian, Böhringer Stefan, Brown Suzanne J, Buckley Brendan M, Camaschella Clara, de Craen Anton J M, Davies Gail, de Visser Marieke C H, Ford Ian, Forsen Tom, Frayling Timothy M, Fugazzola Laura, Gögele Martin, Hattersley Andrew T, Hermus Ad R, Hofman Albert, Houwing-Duistermaat Jeanine J, Jensen Richard A, Kajantie Eero, Kloppenburg Margreet, Lim Ee M, Masciullo Corrado, Mariotti Stefano, Minelli Cosetta, Mitchell Braxton D, Nagaraja Ramaiah, Netea-Maier Romana T, Palotie Aarno, Persani Luca, Piras Maria G, Psaty Bruce M, Räikkönen Katri, Richards J Brent, Rivadeneira Fernando, Sala Cinzia, Sabra Mona M, Sattar Naveed, Shields Beverley M, Soranzo Nicole, Starr John M, Stott David J, Sweep Fred C G J, Usala Gianluca, van der Klauw Melanie M, van Heemst Diana, van Mullem Alies, Vermeulen Sita H, Visser W Edward, Walsh John P, Westendorp Rudi G J, Widen Elisabeth, Zhai Guangju, Cucca Francesco, Deary Ian J, Eriksson Johan G, Ferrucci Luigi, Fox Caroline S, Jukema J Wouter, Kiemeney Lambertus A, Pramstaller Peter P, Schlessinger David, Shuldiner Alan R, Slagboom Eline P, Uitterlinden André G, Vaidya Bijay, Visser Theo J, Wolffenbuttel Bruce H R, Meulenbelt Ingrid, Rotter Jerome I, Spector Tim D, Hicks Andrew A, Toniolo Daniela, Sanna Serena, Peeters Robin P, Naitza Silv |
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, |
Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation.
Nature communications 2015 6 8658. Artigas María Soler, Wain Louise V, Miller Suzanne, Kheirallah Abdul Kader, Huffman Jennifer E, Ntalla Ioanna, Shrine Nick, Obeidat Ma'en, Trochet Holly, McArdle Wendy L, Alves Alexessander Couto, Hui Jennie, Zhao Jing Hua, Joshi Peter K, Teumer Alexander, Albrecht Eva, Imboden Medea, Rawal Rajesh, Lopez Lorna M, Marten Jonathan, Enroth Stefan, Surakka Ida, Polasek Ozren, Lyytikäinen Leo-Pekka, Granell Raquel, Hysi Pirro G, Flexeder Claudia, Mahajan Anubha, Beilby John, Bossé Yohan, Brandsma Corry-Anke, Campbell Harry, Gieger Christian, Gläser Sven, González Juan R, Grallert Harald, Hammond Chris J, Harris Sarah E, Hartikainen Anna-Liisa, Heliövaara Markku, Henderson John, Hocking Lynne, Horikoshi Momoko, Hutri-Kähönen Nina, Ingelsson Erik, Johansson Åsa, Kemp John P, Kolcic Ivana, Kumar Ashish, Lind Lars, Melén Erik, Musk Arthur W, Navarro Pau, Nickle David C, Padmanabhan Sandosh, Raitakari Olli T, Ried Janina S, Ripatti Samuli, Schulz Holger, Scott Robert A, Sin Don D, Starr John M, , Viñuela Ana, Völzke Henry, Wild Sarah H, Wright Alan F, Zemunik Tatijana, Jarvis Deborah L, Spector Tim D, Evans David M, Lehtimäki Terho, Vitart Veronique, Kähönen Mika, Gyllensten Ulf, Rudan Igor, Deary Ian J, Karrasch Stefan, Probst-Hensch Nicole M, Heinrich Joachim, Stubbe Beate, Wilson James F, Wareham Nicholas J, James Alan L, Morris Andrew P, Jarvelin Marjo-Riitta, Hayward Caroline, Sayers Ian, Strachan David P, Hall Ian P, Tobin Martin |
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 |
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 |
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 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 |
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 |
Does the FSHB c.-211G>T polymorphism impact Sertoli cell number and the spermatogenic potential in infertile patients? Andrology 2020 Feb . Schubert Maria, Kaldewey Sophie, Pérez Lanuza Lina, Krenz Henrike, Dugas Martin, Berres Sven, Kliesch Sabine, Wistuba Joachim, Gromoll Jö |
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 |
Comprehensive Identification of Pathogenic Gene Variants in Patients With Neuroendocrine Disorders. The Journal of clinical endocrinology and metabolism 2021 Mar . Vishnopolska Sebastian Alexis, Mercogliano Maria Florencia, Camilletti Maria Andrea, Mortensen Amanda Helen, Braslavsky Debora, Keselman Ana, Bergadá Ignacio, Olivieri Federico, Miranda Lucas, Marino Roxana, Ramírez Pablo, Pérez Garrido Natalia, Patiño Mejia Helen, Ciaccio Marta, Di Palma Maria Isabel, Belgorosky Alicia, Martí Marcelo Adrian, Kitzman Jacob Otto, Camper Sally Ann, Pérez-Millán Maria In |
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