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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 - 4 (of 4 Records)

Query Trace: Hypopituitarism and OTX2[original query]
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
Heterozygous defects in PAX6 gene and congenital hypopituitarism.
European journal of endocrinology / European Federation of Endocrine Societies 2015 Jan 172 (1): 37-45.
Takagi Masaki, Nagasaki Keisuke, Fujiwara Ikuma, Ishii Tomohiro, Amano Naoko, Asakura Yumi, Muroya Koji, Hasegawa Yukihiro, Adachi Masanori, Hasegawa Tomono
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
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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