Human Genome Epidemiology Literature Finder
Records 1 - 18 (of 18 Records) |
Query Trace: HESX1[original query] |
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HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism. The Journal of clinical endocrinology and metabolism 2007 Feb 92 (2): 691-7. McNay David E G, Turton James P, Kelberman Daniel, Woods Kathryn S, Brauner Raja, Papadimitriou Anastasios, Keller Eberhard, Keller Alexandra, Haufs Nele, Krude Heiko, Shalet Stephen M, Dattani Mehul |
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 |
Pituitary stalk interruption syndrome in 58 Chinese patients: clinical features and genetic analysis. Clinical endocrinology 2012 Dec . Yang Y, Guo QH, Wang BA, Dou JT, Lv ZH, Ba JM, Lu JM, Pan CY, Mu YM |
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 |
Identification of HESX1 mutations in Kallmann syndrome. Fertility and sterility 2013 Jun 99 (7): 1831-7. Newbern Kayce, Natrajan Nithya, Kim Hyung-Goo, Chorich Lynn P, Halvorson Lisa M, Cameron Richard S, Layman Lawrence |
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 |
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 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 |
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 |
Predicted regulatory SNPs reveal potential drug targets and novel companion diagnostics in psoriasis. Journal of translational autoimmunity 2021 4 100096. Ruiz Ramírez Andrea Virginia, Flores-Saiffe Farías Adolfo, Chávez Álvarez Rocío Del Carmen, Prado Montes de Oca Ernes |
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 |
Whole Exome Sequencing in Patients With Ectopic Posterior Pituitary. Journal of the Endocrine Society 2022 8 6 (10): bvac116. Silva Tatiane S, Faucz Fabio R, Hernández-Ramírez Laura C, Pankratz Nathan, Lane John, Kay Denise M, Lyra Arthur, Kochi Cristiane, Stratakis Constantine A, Longui Carlos A, Mills James |
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- Page last updated:Apr 16, 2024
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