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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 14, 2025. (Total: 235269Documents)
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Records 1 - 5 (of 5 Records)

Query Trace: Hamartoma and SHH[original query]
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
Pathogenic variants of DYNC2H1, KIAA0556, and PTPN11 associated with hypothalamic hamartoma.
Neurology 2019 Jun .
Fujita Atsushi, Higashijima Takefumi, Shirozu Hiroshi, Masuda Hiroshi, Sonoda Masaki, Tohyama Jun, Kato Mitsuhiro, Nakashima Mitsuko, Tsurusaki Yoshinori, Mitsuhashi Satomi, Mizuguchi Takeshi, Takata Atsushi, Miyatake Satoko, Miyake Noriko, Fukuda Masafumi, Kameyama Shigeki, Saitsu Hirotomo, Matsumoto Naomic
Mutations in the sonic hedgehog pathway cause macrocephaly-associated conditions due to crosstalk to the PI3K/AKT/mTOR pathway.
American journal of medical genetics. Part A 2019 10 179 (12): 2517-2531.
Klein Steven D, Nguyen Dzung C, Bhakta Viraj, Wong Derek, Chang Vivian Y, Davidson Tom B, Martinez-Agosto Julian
Incomplete hippocampal inversion in patients with mutations in genes involved in sonic hedgehog signaling.
Heliyon 2023 4 9 (4): e14712.
Higashijima Takefumi, Shirozu Hiroshi, Saitsu Hirotomo, Sonoda Masaki, Fujita Atsushi, Masuda Hiroshi, Yamamoto Tetsuya, Matsumoto Naomichi, Kameyama Shige
Re-evaluation of the concept of basaloid follicular hamartoma associated with naevoid basal cell carcinoma syndrome: a morphological, immunohistochemical and molecular study.
Pathology 2024 10 .
Simon Barbieux, Fanélie Jouenne, Marie-Christine Machet, Sylvie Fraitag, Nicolas Macagno, Maxime Battistella, Bernard Cribier, Pierre Sohier, Sara Laurent-Roussel, Agnès Carlotti, Fanny Beltzung, Marie-Laure Jullié, Isabelle Moulonguet, Nicole Basset-Seguin, Lydia Deschamps, Samia Mourah, Mahtab Samimi, Serge Guyétant, Thibault Kervarr
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