HuGE Literature Finder
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| Detection of brain somatic variation in epilepsy-associated developmental lesions. Epilepsia 2022 Jun . Bedrosian Tracy A, Miller Katherine E, Grischow Olivia E, Schieffer Kathleen M, LaHaye Stephanie, Yoon Hyojung, Miller Anthony R, Navarro Jason, Westfall Jesse, Leraas Kristen, Choi Samantha, Williamson Rachel, Fitch James, Kelly Benjamin J, White Peter, Lee Kristy, McGrath Sean, Cottrell Catherine E, Magrini Vincent, Leonard Jeffrey, Pindrik Jonathan, Shaikhouni Ammar, Boué Daniel R, Thomas Diana L, Pierson Christopher R, Wilson Richard K, Ostendorf Adam P, Mardis Elaine R, Koboldt Daniel |
| 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 Nora, Patiño Mejia Helena, Ciaccio Marta, Di Palma Maria Isabel, Belgorosky Alicia, Martí Marcelo Adrian, Kitzman Jacob Otto, Camper Sally Ann, Pérez-Millán Maria In |
| Epithelial-Myoepithelial Carcinoma: Frequent Morphologic and Molecular Evidence of Preexisting Pleomorphic Adenoma, Common HRAS Mutations in PLAG1-intact and HMGA2-intact Cases, and Occasional TP53, FBXW7, and SMARCB1 Alterations in High-grade Cases. The American journal of surgical pathology 2017 Nov . El Hallani Soufiane, Udager Aaron M, Bell Diana, Fonseca Isabel, Thompson Lester D R, Assaad Adel, Agaimy Abbas, Luvison Alyssa M, Miller Caitlyn, Seethala Raja R, Chiosea Simi |
| Spectrum of phenotype and genotype of congenital isolated hypogonadotropic hypogonadism in Asian Indians. Clinical endocrinology 2015 Dec . Nair Sandhya, Jadhav Swati, Lila Anurag, Jagtap Varsha, Bukan Amol, Pandit Reshma, Ekbote Alka, Dharmalingam Mala, Kumar Prasanna, Kalra Pramila, Gandhi Pramod, Walia Rama, Sankhe Shilpa, Raghavan Vijaya, Shivane Vyankatesh, Menon Padma, Bandgar Tushar, Shah Nali |
| Clinical and genetic characteristics of craniosynostosis in Hungary. American journal of medical genetics. Part A 2015 Aug . Bessenyei Beáta, Nagy Andrea, Szakszon Katalin, Mokánszki Attila, Balogh Erzsébet, Ujfalusi Anikó, Tihanyi Mariann, Novák László, Bognár László, Oláh É |
| Mutation analyses in pedigrees and sporadic cases of ethnic Han Chinese Kallmann syndrome patients. Experimental biology and medicine (Maywood, N.J.) 2015 Jun . Gu Wei-Jun, Zhang Qian, Wang Ying-Qian, Yang Guo-Qing, Hong Tian-Pei, Zhu Da-Long, Yang Jin-Kui, Ning Guang, Jin Nan, Chen Kang, Zang Li, Wang An-Ping, Du Jin, Wang Xian-Ling, Yang Li-Juan, Ba Jian-Ming, Lv Zhao-Hui, Dou Jing-Tao, Mu Yi-Mi |
| Fibroblast growth factor family aberrations in cancers: clinical and molecular characteristics. Cell cycle (Georgetown, Tex.) 2015 14 (13): 2121-8. Parish A, Schwaederle M, Daniels G, Piccioni D, Fanta P, Schwab R, Shimabukuro K, Parker B A, Helsten T, Kurzrock |
| [Children with idiopathic hypogonadotropic hypogonadism: clinical data analysis and mutations analysis of KAL1 and FGFR1 gene]. Zhonghua er ke za zhi. Chinese journal of pediatrics 2014 Dec 52 (12): 942-7. Qin Miao, Gong Chunxiu, Qi Zhan, Wu Di, Liu Min, Gu Yi, Cao Bingyan, Li Wenjing, Liang Xuej |
| Genome-wide copy number analysis and systematic mutation screening in 58 patients with hypogonadotropic hypogonadism. Fertility and sterility 2014 Oct 102 (4): 1130-1136.e3. Izumi Yoko, Suzuki Erina, Kanzaki Susumu, Yatsuga Shuichi, Kinjo Saori, Igarashi Maki, Maruyama Tetsuo, Sano Shinichiro, Horikawa Reiko, Sato Naoko, Nakabayashi Kazuhiko, Hata Kenichiro, Umezawa Akihiro, Ogata Tsutomu, Yoshimura Yasunori, Fukami Ma |
| Initial experience with genomic profiling of heavily pretreated breast cancers. Annals of surgical oncology 2014 Oct 21 (10): 3216-22. Staren Edgar D, Braun Donald, Tan Bradford, Gupta Digant, Kim Seungchan, Kramer Kim, Markman Maur |
| Molecular screening for a personalized treatment approach in advanced adrenocortical cancer. The Journal of clinical endocrinology and metabolism 2013 Oct 98 (10): 4080-8. De Martino Maria Cristina, Al Ghuzlan Abir, Aubert Sebastien, Assié Guillaume, Scoazec Jean-Yves, Leboulleux Sophie, Do Cao Christine, Libè Rossella, Nozières Cécile, Lombès Marc, Pattou François, Borson-Chazot Francoise, Hescot Ségolène, Mazoyer Clement, Young Jacques, Borget Isabelle, Colao Annamaria, Pivonello Rosario, Soria Jean-Charles, Bertherat Jerome, Schlumberger Martin, Lacroix Ludovic, Baudin Er |
| Loss-of-function mutations in the genes encoding prokineticin-2 or prokineticin receptor-2 cause autosomal recessive Kallmann syndrome. The Journal of clinical endocrinology and metabolism 2008 Oct 93 (10): 4113-8. Abreu Ana Paula, Trarbach Ericka Barbosa, de Castro Margaret, Frade Costa Elaine Maria, Versiani Beatriz, Matias Baptista Maria Tereza, Garmes Heraldo Mendes, Mendonca Berenice Bilharinho, Latronico Ana Claud |
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- Page last updated:Feb 01, 2023
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