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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 8 (of 8 Records)

Query Trace: Hypopituitarism and HESX1[original query]
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
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
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
Clinical and genetic features of childhood-onset congenital combined pituitary hormone deficiency: a retrospective, single-center cohort study.
Annals of pediatric endocrinology & metabolism 2025 1 29 (6): 379-386.
Yoonha Lee, Young Ah Lee, Jung Min Ko, Choong Ho Shin, Yun Jeong L
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