Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 47 Records) |
Query Trace: PROKR2[original query] |
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Gene-gene interactions and risk of recurrent miscarriages in carriers of endocrine gland-derived vascular endothelial growth factor and prokineticin receptor polymorphisms. Fertility and sterility 2014 Oct 102 (4): 1071-1077.e3. Su Mei-Tsz, Lin Sheng-Hsiang, Chen Yi-Chi, Kuo Pao-L |
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 |
FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficiencies. Endocrine connections 2015 Jun 4 (2): 100-7. Correa Fernanda A, Trarbach Ericka B, Tusset Cintia, Latronico Ana Claudia, Montenegro Luciana R, Carvalho Luciani R, Franca Marcela M, Otto Aline P, Costalonga Everlayny F, Brito Vinicius N, Abreu Ana Paula, Nishi Mirian Y, Jorge Alexander A L, Arnhold Ivo J P, Sidis Yisrael, Pitteloud Nelly, Mendonca Berenice |
Correlation between Pituitary Stalk Interruption Syndrome and Prokineticin Receptor 2 and Prokineticin 2 Mutations. Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae 2016 Feb 38 (1): 37-41. Han Bai-Yu, Li Le-le, Wang Cheng-Zhi, Guo Qing-Hua, Lv Zhao-Hui, Mu Yi-Ming, Dou Jing-T |
Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants.
Genome medicine 2017 Mar 9 (1): 23. Nagy Reka, Boutin Thibaud S, Marten Jonathan, Huffman Jennifer E, Kerr Shona M, Campbell Archie, Evenden Louise, Gibson Jude, Amador Carmen, Howard David M, Navarro Pau, Morris Andrew, Deary Ian J, Hocking Lynne J, Padmanabhan Sandosh, Smith Blair H, Joshi Peter, Wilson James F, Hastie Nicholas D, Wright Alan F, McIntosh Andrew M, Porteous David J, Haley Chris S, Vitart Veronique, Hayward Caroli |
Next-generation sequencing of patients with congenital anosmia. European journal of human genetics : EJHG 2017 12 25 (12): 1377-1387. Alkelai Anna, Olender Tsviya, Dode Catherine, Shushan Sagit, Tatarskyy Pavel, Furman-Haran Edna, Boyko Valery, Gross-Isseroff Ruth, Halvorsen Matthew, Greenbaum Lior, Milgrom Roni, Yamada Kazuya, Haneishi Ayumi, Blau Ilan, Lancet Dor |
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- |
Mutation profiles and clinical characteristics of Chinese males with isolated hypogonadotropic hypogonadism. Fertility and sterility 2018 8 110 (3): 486-495.e5. Zhou Chengming, Niu Yonghua, Xu Hao, Li Zongzhe, Wang Tao, Yang Weimin, Wang Shaogang, Wang Dao Wen, Liu Jiho |
PROKR2 mutations in idiopathic hypogonadotropic hypogonadism: selective disruption of the binding to a G?-protein leads to biased signaling. FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2018 12 33 (3): 4538-4546. Zhao Yaguang, Wu Jiayu, Jia Hong, Wang Xinying, Zheng Ruizhi, Jiang Fang, Chen Dan-Na, Chen Zhiheng, Li Jia- |
Prevalence and associated phenotypes of PLXNA1 variants in normosmic and anosmic idiopathic hypogonadotropic hypogonadism. Clinical genetics 2019 Feb 95 (2): 320-324. Kotan Leman D, Isik Emregul, Turan Ihsan, Mengen Eda, Akkus Gamze, Tastan Mehmet, Gurbuz Fatih, Yuksel Bilgin, Topaloglu A Kem |
Identification of gene variants in a cohort of hypogonadotropic hypogonadism: Diagnostic utility of custom NGS panel and WES in unravelling genetic complexity of the disease. Molecular and cellular endocrinology 2020 8 517 110968. Gach Agnieszka, Pinkier Iwona, Sa?aci?ska Kinga, Szarras-Czapnik Maria, Salachna Dominik, Kuci?ska Agata, Rybak-Krzyszkowska Magda, Sakowicz Aga |
Correlations Among Genotype and Outcome in Chinese Male Patients With Congenital Hypogonadotropic Hypogonadism Under HCG Treatment. The journal of sexual medicine 2020 3 17 (4): 645-657. Chen Yinwei, Sun Taotao, Niu Yonghua, Wang Daoqi, Xiong Zhiyong, Li Chuanzhou, Liu Kang, Qiu Youlan, Sun Yi, Gong Jianan, Wang Tao, Wang Shaogang, Xu Hao, Liu Jiho |
Whole exome sequencing and trio analysis to broaden the variant spectrum of genes in idiopathic hypogonadotropic hypogonadism. Asian journal of andrology 2020 11 23 (3): 288-293. Zhang Jian, Tang Shu-Yan, Zhu Xiao-Bin, Li Peng, Lu Jian-Qi, Cong Jiang-Shan, Wang Ling-Bo, Zhang Feng, Li Zhe |
A simultaneous next-generation sequencing approach to the diagnosis of couple infertility. Minerva endocrinology 2021 5 47 (1): 4-10. Precone Vincenza, Notarangelo Angelantonio, Marceddu Giuseppe, D'Agruma Leonardo, Cannarella Rossella, Calogero Aldo E, Cristofoli Francesca, Guerri Giulia, Paolacci Stefano, Castori Marco, Bertelli Matt |
Comparison of Clinical Characteristics and Spermatogenesis in CHH Patients Caused by PROKR2 and FGFR1 Mutations. Reproductive sciences (Thousand Oaks, Calif.) 2021 5 28 (11): 3219-3227. Li Shuying, Zhao Yaling, Nie Min, Yang Yufan, Hao Ming, Mao Jiangfeng, Wu Xuey |
Exploring the Genetic Diversity of Isolated Hypogonadotropic Hypogonadism and Its Phenotypic Spectrum: A Case Series. Journal of reproduction & infertility 2021 3 22 (1): 38-46. Danda Vijay Sheker Reddy, Paidipelly Srinivas Rao, Verepula Madhavi, Lodha Piyush, Thaduri Krishna Reddy, Konda Chaitanya, Ruhi Aps |
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 Natalia, Patiño Mejia Helen, Ciaccio Marta, Di Palma Maria Isabel, Belgorosky Alicia, Martí Marcelo Adrian, Kitzman Jacob Otto, Camper Sally Ann, Pérez-Millán Maria In |
Interplay between Genome, Metabolome and Microbiome in Colorectal Cancer. Cancers 2021 12 13 (24): . Garcia-Etxebarria Koldo, Clos-Garcia Marc, Telleria Oiana, Nafría Beatriz, Alonso Cristina, Iruarrizaga-Lejarreta Marta, Franke Andre, Crespo Anais, Iglesias Agueda, Cubiella Joaquín, Bujanda Luis, Falcón-Pérez Juan Manu |
Molecular diagnosis for growth hormone deficiency in Chinese children and adolescents and evaluation of impact of rare genetic variants on treatment efficacy of growth hormone. Clinica chimica acta; international journal of clinical chemistry 2021 11 524 1-10. He Dongye, Li Yanying, Yang Wanling, Chen Shuxiong, Sun Hailing, Li Ping, Zhang Mei, Ban |
Next-generation sequencing-based mutational analysis of idiopathic short stature and isolated growth hormone deficiency in Korean pediatric patients. Molecular and cellular endocrinology 2021 10 544 111489. Ahn Jungmin, Oh Jiyoung, Suh Junghwan, Song Kyungchul, Kwon Ahreum, Chae Hyun Wook, Oh Jun Suk, Lee Hae In, Lee Myeong Seob, Kim Ho-Seo |
Molecular screening of PROKR2 gene in girls with idiopathic central precocious puberty. Italian journal of pediatrics 2021 1 47 (1): 5. Aiello Francesca, Cirillo Grazia, Cassio Alessandra, Di Mase Raffaella, Tornese Gianluca, Umano Giuseppina R, Miraglia Del Giudice Emanuele, Grandone An |
Genetic spectrum of Kallmann syndrome: Single-center experience and systematic review. Clinical endocrinology 2022 9 97 (6): 804-813. Patil Virendra A, Lila Anurag Ranjan, Shah Nalini, Arya Sneha, Sarathi Vijaya, Shah Ravikumar, Jadhav Swati S, Memon Saba Samad, Karlekar Manjiri, Bandgar Tush |
Novel Genomic Variants, Atypical Phenotypes and Evidence of a Digenic/Oligogenic Contribution to Disorders/Differences of Sex Development in a Large North African Cohort. Frontiers in genetics 2022 9 13 900574. Zidoune Housna, Ladjouze Asmahane, Chellat-Rezgoune Djalila, Boukri Asma, Dib Scheher Aman, Nouri Nassim, Tebibel Meryem, Sifi Karima, Abadi Noureddine, Satta Dalila, Benelmadani Yasmina, Bignon-Topalovic Joelle, El-Zaiat-Munsch Maeva, Bashamboo Anu, McElreavey K |
Genetic causes of central precocious puberty. Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 2022 8 31 (3): 101-109. Tajima Toshihi |
[Analysis of PROKR2 gene mutation in patients with hypogonadotropic hypogonadism]. Zhonghua nei ke za zhi 2022 8 61 (8): 933-936. Xie Y D, Zheng R Z, Han H J, Yuan J D, Li Jia |
Correlation Analysis of Genotypes and Phenotypes in Chinese Male Pediatric Patients With Congenital Hypogonadotropic Hypogonadism. Frontiers in endocrinology 2022 13 846801. Wang Yi, Qin Miao, Fan Lijun, Gong Chunx |
[Analysis of a patient with Kallmann syndrome and a 45,X/46,XY karyotype]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022 11 39 (11): 1275-1278. Ma Fuhui, Wang Xinling, Reziwanguli Wusiman, Chen Yuan, Guo Yanyi |
Clinical and genetic evaluation of children with short stature of unknown origin. BMC medical genomics 2023 8 16 (1): 194. Qianqian Zhao, Yanying Li, Qian Shao, Chuanpeng Zhang, Shuang Kou, Wanling Yang, Mei Zhang, Bo B |
PROKR2 Mutations in Patients with Short Stature Who Have Isolated Growth Hormone Deficiency and Multiple Pituitary Hormone Deficiency. Journal of clinical research in pediatric endocrinology 2023 6 . Asl? Derya Kardelen, Adam Najafli, Firdevs Ba?, Birsen Karaman, Güven Toksoy, ?ükran Poyrazo?lu, ?ahin Avc?, Umut Altuno?lu, Zehra Yava? Abal?, Ay?e P?nar Öztürk, Esin Karak?l?ç Özturan, Seher Ba?aran, Feyza Darendeliler, Z Oya Uygun |
Utility of whole-exome sequencing for patients with multiple congenital anomalies with or without intellectual disability/developmental delay in East Asia population. Molecular genetics & genomic medicine 2023 2 e2160. Hsu Rai-Hseng, Lee Chen-Hao, Chien Yin-Hsiu, Lin Shuan-Pei, Hung Miao-Zi, Chen Nai-Chi, Lin Yi-Lin, Hwu Wuh-Liang, Lee Ni-Chu |
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- Page last updated:Apr 22, 2024
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