Human Genome Epidemiology Literature Finder
Records 1 - 6 (of 6 Records) |
Query Trace: Syndrome and GLI3[original query] |
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Identification of somatic chromosomal abnormalities in hypothalamic hamartoma tissue at the GLI3 locus. American journal of human genetics 2008 Feb 82 (2): 366-74. Craig David W, Itty Abraham, Panganiban Corrie, Szelinger Szabolcs, Kruer Michael C, Sekar Aswin, Reiman David, Narayanan Vinodh, Stephan Dietrich A, Kerrigan John |
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. Human mutation 2010 Oct 31 (10): 1142-54. Johnston Jennifer J, Sapp Julie C, Turner Joyce T, Amor David, Aftimos Salim, Aleck Kyrieckos A, Bocian Maureen, Bodurtha Joann N, Cox Gerald F, Curry Cynthia J, Day Ruth, Donnai Dian, Field Michael, Fujiwara Ikuma, Gabbett Michael, Gal Moran, Graham John M, Hedera Peter, Hennekam Raoul C M, Hersh Joseph H, Hopkin Robert J, Kayserili Hülya, Kidd Alexa M J, Kimonis Virginia, Lin Angela E, Lynch Sally Ann, Maisenbacher Melissa, Mansour Sahar, McGaughran Julie, Mehta Lakshmi, Murphy Helen, Raygada Margarita, Robin Nathaniel H, Rope Alan F, Rosenbaum Kenneth N, Schaefer G Bradley, Shealy Amy, Smith Wendy, Soller Maria, Sommer Annmarie, Stalker Heather J, Steiner Bernhard, Stephan Mark J, Tilstra David, Tomkins Susan, Trapane Pamela, Tsai Anne Chun-Hui, Van Allen Margot I, Vasudevan Pradeep C, Zabel Bernhard, Zunich Janice, Black Graeme C M, Biesecker Leslie |
Targeted next generation sequencing approach identifies eighteen new candidate genes in normosmic hypogonadotropic hypogonadism and Kallmann syndrome. Molecular and cellular endocrinology 2016 12 437 86-96. Quaynor Samuel D, Bosley Maggie E, Duckworth Christina G, Porter Kelsey R, Kim Soo-Hyun, Kim Hyung-Goo, Chorich Lynn P, Sullivan Megan E, Choi Jeong-Hyeon, Cameron Richard S, Layman Lawrence |
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 |
Nevoid Basal Cell Carcinoma Syndrome: PTCH1 Mutation Profile and Expression of Genes Involved in the Hedgehog Pathway in Argentinian Patients. Cells 2019 2 8 (2): . Martinez Maria Florencia, Romano Maria Vanesa, Martinez Alfredo Pedro, González Abel, Muchnik Carolina, Stengel Fernando Miguel, Mazzuoccolo Luis Daniel, Azurmendi Pablo Javi |
[Clinical Characteristics and Genetic Analysis of Klippel-Feil Syndrome]. Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae 2021 3 43 (1): 25-31. Li Zi Quan, Geng Mo Zhao, Zhao Sen, Wu Zhi Hong, Zhang Jian Guo, Wu Nan, Wang Yi Pe |
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