Human Genome Epidemiology Literature Finder
Records 1 - 7 (of 7 Records) |
Query Trace: Holoprosencephaly and GLI2[original query] |
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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 |
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 |
Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway. Human mutation 2016 Jul . Dubourg Christèle, Carré Wilfrid, Hamdi-Rozé Houda, Mouden Charlotte, Roume Joëlle, Abdelmajid Benmansour, Amram Daniel, Baumann Clarisse, Chassaing Nicolas, Coubes Christine, Faivre-Olivier Laurence, Ginglinger Emmanuelle, Gonzales Marie, Levy-Mozziconacci Annie, Lynch Sally-Ann, Naudion Sophie, Pasquier Laurent, Poidvin Amélie, Prieur Fabienne, Sarda Pierre, Toutain Annick, Dupé Valérie, Akloul Linda, Odent Sylvie, de Tayrac Marie, David Véroniq |
Clues for Polygenic Inheritance of Pituitary Stalk Interruption Syndrome From Exome Sequencing in 20 Patients. The Journal of clinical endocrinology and metabolism 2017 Nov . Zwaveling-Soonawala Nitash, Alders Marielle, Jongejan Aldo, Kovacic Lidija, Duijkers Floor A, Maas Saskia M, Fliers Eric, van Trotsenburg A S Paul, Hennekam Raoul |
Novel GLI2 mutations identified in patients with Combined Pituitary Hormone Deficiency (CPHD): Evidence for a pathogenic effect by functional characterization. Clinical endocrinology 2018 12 90 (3): 449-456. Babu Deepak, Fanelli Antonella, Mellone Simona, Muniswamy Ranjith, Wasniewska Malgorzata, Prodam Flavia, Petri Antonella, Bellone Simonetta, Salerno Maria Carolina, Giordano Ma |
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 |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 22, 2024
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