Human Genome Epidemiology Literature Finder
Records 1 - 7 (of 7 Records) |
Query Trace: Syndrome and GLI2[original query] |
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Integrated genotypic analysis of hedgehog-related genes identifies subgroups of keratocystic odontogenic tumor with distinct clinicopathological features. PloS one 2013 8 (8): e70995. Shimada Yasuyuki, Katsube Ken-ichi, Kabasawa Yuji, Morita Kei-ichi, Omura Ken, Yamaguchi Akira, Sakamoto K |
Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy. American journal of human genetics 2016 Jul . Hildebrand Michael S, Griffin Nicole G, Damiano John A, Cops Elisa J, Burgess Rosemary, Ozturk Ezgi, Jones Nigel C, Leventer Richard J, Freeman Jeremy L, Harvey A Simon, Sadleir Lynette G, Scheffer Ingrid E, Major Heather, Darbro Benjamin W, Allen Andrew S, Goldstein David B, Kerrigan John F, Berkovic Samuel F, Heinzen Erin |
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 |
Biallelic PTCH1 Inactivation Is a Dominant Genomic Change in Sporadic Keratocystic Odontogenic Tumors. The American journal of surgical pathology 2019 11 44 (4): 553-560. Stojanov Ivan J, Schaefer Inga-Marie, Menon Reshma S, Wasman Jay, Gokozan Hamza N, Garcia Elizabeth P, Baur Dale A, Woo Sook-Bin, Sholl Lynette |
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 |
Genome-wide association analysis of metabolic syndrome quantitative traits in the GENNID multiethnic family study.
Diabetology & metabolic syndrome 2021 6 13 (1): 59. Wan Jia Y, Goodman Deborah L, Willems Emileigh L, Freedland Alexis R, Norden-Krichmar Trina M, Santorico Stephanie A, Edwards Karen L, |
Disorders of Sex Development in a Large Ukrainian Cohort: Clinical Diversity and Genetic Findings. Frontiers in endocrinology 2022 4 13 810782. Globa Evgenia, Zelinska Natalia, Shcherbak Yulia, Bignon-Topalovic Joelle, Bashamboo Anu, M?Elreavey K |
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- Page last updated:Apr 22, 2024
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