Human Genome Epidemiology Literature Finder
Records 1 - 7 (of 7 Records) |
Query Trace: Hypopituitarism and 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 |
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 |
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 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 |
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 |
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 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 |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 22, 2024
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