Human Genome Epidemiology Literature Finder
Records 1 - 14 (of 14 Records) |
Query Trace: SOX3[original query] |
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Mutation analysis of subjects with 46, XX sex reversal and 46, XY gonadal dysgenesis does not support the involvement of SOX3 in testis determination. Human genetics 2001 1 107 (6): 650-2. Lim H N, Berkovitz G D, Hughes I A, Hawkins J |
X-linked sex-determining region Y box 3 (SOX3) gene mutations are uncommon in men with idiopathic oligoazoospermic infertility. The Journal of clinical endocrinology and metabolism 2004 Aug 89 (8): 4146-8. Raverot Gerald, Lejeune Herve, Kotlar Tom, Pugeat Michel, Jameson J Lar |
Mutation and gene copy number analyses of six pituitary transcription factor genes in 71 patients with combined pituitary hormone deficiency: identification of a single patient with LHX4 deletion. The Journal of clinical endocrinology and metabolism 2010 Aug 95 (8): 4043-7. Dateki Sumito, Fukami Maki, Uematsu Ayumi, Kaji Masayuki, Iso Manami, Ono Makoto, Mizota Michiyo, Yokoya Susumu, Motomura Katsuaki, Kinoshita Eiichi, Moriuchi Hiroyuki, Ogata Tsuto |
Pituitary stalk interruption syndrome in 58 Chinese patients: clinical features and genetic analysis. Clinical endocrinology 2012 Dec . Yang Y, Guo QH, Wang BA, Dou JT, Lv ZH, Ba JM, Lu JM, Pan CY, Mu YM |
Gradual loss of ACTH due to a novel mutation in LHX4: comprehensive mutation screening in Japanese patients with congenital hypopituitarism. PloS one 2012 7 (9): 9. Takagi M, Ishii T, Inokuchi M, Amano N, Narumi S, Asakura Y, Muroya K, Hasegawa Y, Adachi M, Hasegawa T |
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 |
Molecular screening of a large cohort of Moroccan patients with congenital hypopituitarism. Clinical endocrinology 2015 1 82 (6): 876-84. Fritez Nabila, Sobrier Marie-Laure, Iraqi Hinde, Vié-Luton Marie-Pierre, Netchine Irène, El Annas Abdessamad, Pantel Jacques, Collot Nathalie, Rose Sophie, Piterboth William, Legendre Marie, Chraibi Abdelmjid, Amselem Serge, Kadiri Abdelkrim, Hilal Lati |
Study of six patients with complete F9 deletion characterized by cytogenetic microarray: role of the SOX3 gene in intellectual disability. Journal of thrombosis and haemostasis : JTH 2016 Oct 14 (10): 1988-1993. Jourdy Y, Chatron N, Carage M-L, Fretigny M, Meunier S, Zawadzki C, Gay V, Negrier C, Sanlaville D, Vinciguerra |
Targeted Gene Panel Sequencing for Molecular Diagnosis of Kallmann Syndrome and Normosmic Idiopathic Hypogonadotropic Hypogonadism. Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association 2018 9 127 (8): 538-544. Kim Ja Hye, Seo Go Hun, Kim Gu-Hwan, Huh Juyoung, Hwang Il Tae, Jang Ja-Hyun, Yoo Han-Wook, Choi Jin- |
Long Noncoding RNA SOX2-OT: Regulations, Functions, and Roles on Mental Illnesses, Cancers, and Diabetic Complications. BioMed research international 2020 12 2020 2901589. Li Pu-Yu, Wang Ping, Gao She-Gan, Dong Dao-Y |
Screening for structural variants of four candidate genes in dogs with disorders of sex development revealed the first case of a large deletion in NR5A1. Animal reproduction science 2020 10 223 106632. Nowacka-Woszuk Joanna, Szczerbal Izabela, Stachowiak Monika, Dzimira Stanislaw, Nizanski Wojciech, Biezynski Janusz, Nowak Tomasz, Gogulski Maciej, Switonski Mar |
Case Report: A Novel Point Mutation of SOX3 in a Subject With Growth Hormone Deficiency, Hypogonadotrophic Hypogonadism, and Borderline Intellectual Disability. Frontiers in endocrinology 2022 3 13 810375. Li Jing, Zhong Yuxia, Guo Tao, Yu Yerong, Li Jianw |
Identification of an SRY-negative 46,XX infertility male with a heterozygous deletion downstream of SOX3 gene. Molecular cytogenetics 2022 2 15 (1): 2. Qin Shengfang, Wang Xueyan, Wang J |
Role of chromosomal imbalances in the pathogenesis of DSD: A retrospective analysis of 115 prenatal samples. European journal of medical genetics 2023 3 66 (6): 104748. Mary L, Fradin M, Pasquier L, Quelin C, Loget P, Le Lous M, Le Bouar G, Nivot-Adamiak S, Lokchine A, Dubourg C, Jauffret V, Nouyou B, Henry C, Launay E, Odent S, Jaillard S, Belaud-Rotureau M |
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- Page last updated:Apr 29, 2024
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