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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 21, 2025. (Total: 235532Documents)
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Records 1 - 9 (of 9 Records)

Query Trace: Hypopituitarism and GLI2[original query]
Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly.
Clinical endocrinology 2013 Apr 78 (4): 551-7.
França Marcela M, Jorge Alexander A L, Carvalho Luciani R S, Costalonga Everlayny F, Otto Aline P, Correa Fernanda A, Mendonca Berenice B, Arnhold Ivo J
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
Functional characterization of a heterozygous GLI2 missense mutation in patients with multiple pituitary hormone deficiency.
The Journal of clinical endocrinology and metabolism 2013 Mar 98 (3): E567-75.
Flemming G M C, Klammt J, Ambler G, Bao Y, Blum W F, Cowell C, Donaghue K, Howard N, Kumar A, Sanchez J, Stobbe H, Pfäffle R
Sonic Hedgehog mutations are not a common cause of congenital hypopituitarism in the absence of complex midline cerebral defects.
Clinical endocrinology 2015 Apr 82 (4): 562-9.
Paulo Sabrina Soares, Fernandes-Rosa Fábio L, Turatti Wendy, Coeli-Lacchini Fernanda Borchers, Martinelli Carlos E, Nakiri Guilherme S, Moreira Ayrton C, Santos Antônio C, de Castro Margaret, Antonini Sonir
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
A novel truncating variant of GLI2 associated with Culler-Jones syndrome impairs Hedgehog signalling.
PloS one 2019 1 14 (1): e0210097.
Valenza Fabiola, Cittaro Davide, Stupka Elia, Biancolini Donatella, Patricelli Maria Grazia, Bonanomi Dario, Lazarevi? Dej
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
Genetic diagnosis of congenital hypopituitarism in Turkish patients by a target gene panel: novel pathogenic variants in GHRHR, GLI2, LHX4 and POU1F1 genes.
Archives of endocrinology and metabolism 2023 11 68 e220254.
Tar?k K?rkgöz, Semra Gürsoy, Sezer Acar, Özlem Nalbanto?lu, Beyhan Özkaya, Hüseyin An?l Korkmaz, Filiz Hazan, Behzat Özk
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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