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Kallmann Syndrome

Kallmann syndrome in women: from genes to diagnosis and treatment

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Pages 296-300 | Received 01 Nov 2012, Accepted 12 Nov 2012, Published online: 31 Jan 2013

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Bao-Fang Jin, Zhi-Yong Ji, Zhi-Ying Su, Li-Bin Mei, Xian-Jing Huang, Shao-Bin Lin, Ping Li & Yan-Wei Sha. (2018) Identification of a novel mutation in FGFR1 gene in patients with Kallmann syndrome by high throughput sequencing. Systems Biology in Reproductive Medicine 64:3, pages 202-206.
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I. Ilovayskaya, V. Zektser & L. Lazebnik. (2017) Similarity of female central (hypogonadotropic) hypogonadism and postmenopause. Climacteric 20:4, pages 356-361.
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Nelmar Valentina Ortiz-Cabrera, Teresa Gavela-Pérez, Francisco Javier Mejorado-Molano, Jessica Mire Santillán-Coello, José Miguel Villacampa-Aubá, María José Trujillo-Tiebas & Leandro Soriano-Guillén. (2022) Diagnostic yield of clinical exome sequencing in congenital hypogonadotropic hypogonadism considering the degree of olfactory impairment. Anales de Pediatría (English Edition) 97:4, pages 247-254.
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Yujun Liu & Xu Zhi. (2021) Advances in Genetic Diagnosis of Kallmann Syndrome and Genetic Interruption. Reproductive Sciences 29:6, pages 1697-1709.
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Daniela Donat, Sonja Lukac, Ivana Bajkin, Ivana Vorgucin, Viktor Till & Sladjana Zagorac. (2022) Testicular ultrasound in a patient with Kallmann syndrome: A case report. Medicinski pregled Medical review 75:7-8, pages 247-249.
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Junke Xia, Xiao Luo, Xinyuan Zhang & Xiangdong Kong. (2021) Two females presenting primary amenorrhea diagnosed with Kallmann syndrome caused by novel FGFR1 variants . Journal of Obstetrics and Gynaecology Research 47:10, pages 3727-3731.
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Haijun Yuan, Sipeng Deng, Wei Gao, Huaxin Li & Mei Yuan. (2021) Identification of MMACHC and PROKR2 mutations causing coexistent cobalamin C disease and Kallmann syndrome in a young woman. Metabolic Brain Disease 36:3, pages 447-452.
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Huining Tian, Zi Yan, You Lv, Lin Sun, Xiaokun Gang & Guixia Wang. (2020) Eight rare urinary disorders in a patient with Kallmann syndrome. Medicine 99:43, pages e22936.
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Tali Weiss, Timna Soroka, Lior Gorodisky, Sagit Shushan, Kobi Snitz, Reut Weissgross, Edna Furman-Haran, Thijs Dhollander & Noam Sobel. (2020) Human Olfaction without Apparent Olfactory Bulbs. Neuron 105:1, pages 35-45.e5.
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Chang Soo Ryu, Jung Hyun Sakong, Eun Hee Ahn, Jung Oh Kim, Daeun Ko, Ji Hyang Kim, Woo Sik Lee & Nam Keun Kim. (2018) Association study of the three functional polymorphisms (TAS2R46G>A, OR4C16G>A, and OR4X1A>T) with recurrent pregnancy loss. Genes & Genomics 41:1, pages 61-70.
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Karolina Dżaman, Karolina Zborowska – Piskadło, Mirosława Pietniczka – Załęska & Ireneusz Kantor. (2017) Kallmann syndrome in pediatric otorhinolaryngology practice – Case report and literature review. International Journal of Pediatric Otorhinolaryngology 100, pages 149-153.
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Roberto Maggi, Anna Maria Cariboni, Marina Montagnani Marelli, Roberta Manuela Moretti, Valentina Andrè, Monica Marzagalli & Patrizia Limonta. (2016) GnRH and GnRH receptors in the pathophysiology of the human female reproductive system. Human Reproduction Update 22:3, pages 358-381.
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Natalia Hernando‐Quintana, Jesús Playán‐Usón, José Antonio Crespo‐Burillo, Miguel Ángel Marín‐Cárdenas & José Gazulla. (2015) Ataxia and focal dystonia in Kallmann syndrome. Clinical Case Reports 4:2, pages 182-185.
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Wei-Jun Gu, Qian Zhang, Ying-Qian Wang, Guo-Qing Yang, Tian-Pei Hong, Da-Long Zhu, Jin-Kui Yang, Guang Ning, Nan Jin, Kang Chen, Li Zang, An-Ping Wang, Jin Du, Xian-Ling Wang, Li-Juan Yang, Jian-Ming Ba, Zhao-Hui Lv, Jing-Tao Dou & Yi-Ming Mu. (2015) Mutation analyses in pedigrees and sporadic cases of ethnic Han Chinese Kallmann syndrome patients. Experimental Biology and Medicine 240:11, pages 1480-1489.
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Soo-Hyun Kim. (2015) Congenital Hypogonadotropic Hypogonadism and Kallmann Syndrome: Past, Present, and Future. Endocrinology and Metabolism 30:4, pages 456.
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