Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 38 Records) |
Query Trace: Syndrome and FGFR1[original query] |
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Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia. The Journal of clinical endocrinology and metabolism 2012 Feb . Raivio T, Avbelj M, McCabe MJ, Romero CJ, Dwyer AA, Tommiska J, Sykiotis GP, Gregory LC, Diaczok D, Tziaferi V, Elting MW, Padidela R, Plummer L, Martin C, Feng B, Zhang C, Zhou QY, Chen H, Mohammadi M, Quinton R, Sidis Y, Radovick S, Dattani MT, Pitteloud N |
Greater prevalence of PROKR2 mutations in Kallmann syndrome patients from the Maghreb than in European patients. European journal of endocrinology / European Federation of Endocrine Societies 2013 Dec 169 (6): 805-9. Sarfati Julie, Fouveaut Corinne, Leroy Chrystel, Jeanpierre Marc, Hardelin Jean-Pierre, Dodé Catheri |
Evidence of genetic variations associated with rotator cuff disease. Journal of shoulder and elbow surgery / American Shoulder and Elbow Surgeons ... [et al.] 2014 Feb 23 (2): 227-35. Motta Geraldo da Rocha, Amaral Marcus Vinícius, Rezende Eduardo, Pitta Rafael, Vieira Thays Cristine dos Santos, Duarte Maria Eugenia Leite, Vieira Alexandre Rezende, Casado Priscila Ladei |
Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. American journal of medical genetics. Part C, Seminars in medical genetics 2013 Nov 163C (4): 259-70. Roscioli T, Elakis G, Cox T C, Moon D J, Venselaar H, Turner A M, Le T, Hackett E, Haan E, Colley A, Mowat D, Worgan L, Kirk E P, Sachdev R, Thompson E, Gabbett M, McGaughran J, Gibson K, Gattas M, Freckmann M-L, Dixon J, Hoefsloot L, Field M, Hackett A, Kamien B, Edwards M, Adès L C, Collins F A, Wilson M J, Savarirayan R, Tan T Y, Amor D J, McGillivray G, White S M, Glass I A, David D J, Anderson P J, Gianoutsos M, Buckley M |
Genetics of congenital hypogonadotropic hypogonadism in Denmark. European journal of medical genetics 2014 Jul 57 (7): 345-8. Tommiska Johanna, Känsäkoski Johanna, Christiansen Peter, Jørgensen Niels, Lawaetz Jacob Gerner, Juul Anders, Raivio Tane |
Mutational identification of fibroblast growth factor receptor 1 and fibroblast growth factor receptor 2 genes in craniosynostosis in Indian population. Indian journal of human genetics 2013 Oct 19 (4): 449-53. Pandey Rajeev Kumar, Bajpai Minu, Ali Abid, Gayan Sukanya, Singh Am |
Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants. European journal of human genetics : EJHG 2015 Jul 23 (7): 907-14. Paumard-Hernández Beatriz, Berges-Soria Julia, Barroso Eva, Rivera-Pedroza Carlos I, Pérez-Carrizosa Virginia, Benito-Sanz Sara, López-Messa Eva, Santos Fernando, García-Recuero Ignacio I, Romance Ana, Ballesta-Martínez Juliana María, López-González Vanesa, Campos-Barros Ángel, Cruz Jaime, Guillén-Navarro Encarna, Sánchez Del Pozo Jaime, Lapunzina Pablo, García-Miñaur Sixto, Heath Karen |
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 |
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 |
Recurrent Mutations of Chromatin-Remodeling Genes and Kinase Receptors in Pheochromocytomas and Paragangliomas. Clinical cancer research : an official journal of the American Association for Cancer Research 2015 Dec . Toledo Rodrigo A, Qin Yuejuan, Cheng Zi-Ming, Gao Qing, Iwata Shintaro, Silva Gustavo, Prasad Manju, Ocal I Tolgay, Rao Sarika, Aronin Neil, Barontini Marta B, Bruder Jan, Reddick Robert L, Chen Yidong, Aguiar Ricardo, Dahia Patricia L |
[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 |
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 |
Molecular genetic and clinical delineation of 22 patients with congenital hypogonadotropic hypogonadism. Journal of pediatric endocrinology & metabolism : JPEM 2017 Sep . Aoyama Kohei, Mizuno Haruo, Tanaka Tatsushi, Togawa Takao, Negishi Yutaka, Ohashi Kei, Hori Ikumi, Izawa Masako, Hamajima Takashi, Saitoh Shin |
A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations. Genetics in medicine : official journal of the American College of Medical Genetics 2017 12 20 (9): 1061-1068. Lee Eric, Le Trang, Zhu Ying, Elakis George, Turner Anne, Lo William, Venselaar Hanka, Verrenkamp Carol-Ann, Snow Nicole, Mowat David, Kirk Edwin Philip, Sachdev Rani, Smith Janine, Brown Natasha Jane, Wallis Mathew, Barnett Chris, McKenzie Fiona, Freckmann Mary-Louise, Collins Felicity, Chopra Maya, Gregersen Nerine, Hayes Ian, Rajagopalan Sulekha, Tan Tiong Yang, Stark Zornitza, Savarirayan Ravi, Yeung Alison, Adès Lesley, Gattas Michael, Gibson Kate, Gabbett Michael, Amor David John, Lattanzi Wanda, Boyd Simeon, Haan Eric, Gianoutsos Mark, Cox Timothy Chilton, Buckley Michael Francis, Roscioli To |
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 |
Association between the FGFR1 rs13317 single nucleotide polymorphism and orbitale-nasion depth based on cephalometric images. Journal of human genetics 2018 Jun . Adel Mohamed, Yamaguchi Tetsutaro, Tomita Daisuke, Kim Yong-Il, Takahashi Masahiro, Nakawaki Takatoshi, Hikita Yu, Haga Shugo, Nadim Mohamed, Kawaguchi Akira, Isa Mutsumi, El-Kenany Walid, El-Kadi Abbadi A, Park Soo-Byung, Ishida Hajime, Maki Koutaro, Kimura Ryosu |
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 |
Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies. Molecular genetics & genomic medicine 2019 Mar e625. Chacon-Camacho Oscar F, Lopez-Moreno Daniel, Morales-Sanchez Martha A, Hofmann Enriqueta, Pacheco-Quito Michelle, Wieland Ilse, Cortes-Gonzalez Vianney, Villanueva-Mendoza Cristina, Zenker Martin, Zenteno Juan Carl |
Prevalence and associated phenotypes of DUSP6, IL17RD and SPRY4 variants in a large Chinese cohort with isolated hypogonadotropic hypogonadism. Journal of medical genetics 2020 5 58 (1): 66-72. Men Meichao, Wang Xinying, Wu Jiayu, Zeng Wang, Jiang Fang, Zheng Ruizhi, Li Jia- |
Panel gene profiling of small bowel adenocarcinoma: Results from the NADEGE prospective cohort. International journal of cancer 2020 Nov . Aparicio Thomas, Svrcek Magali, Henriques Julie, Afchain Pauline, Lièvre Astrid, Tougeron David, Gagniere Johan, Terrebonne Eric, Piessen Guillaume, Legoux Jean-Louis, Lecaille Cédric, Pocard Marc, Gornet Jean-Marc, Zaanan Aziz, Lavau-Denes Sandrine, Lecomte Thierry, Deutsch David, Vernerey Dewi, Puig Pierre Laure |
A case of Kallmann syndrome associated to a novel missense mutation of the FGFR1 gene. Acta bio-medica : Atenei Parmensis 2020 1 90 (4): 577-579. Scavone Maria, Chiarello Paola, Talarico Valentina, Mascaro Italia, Caglioti Claudia, Galati Maria Concetta, Raiola Giusep |
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 |
Clinical and molecular features of idiopathic hypogonadotropic hypogonadism in Taiwan: A single center experience. Journal of the Formosan Medical Association = Taiwan yi zhi 2021 3 121 (1 Pt 1): 218-226. Cho Chih-Yi, Tsai Wen-Yu, Lee Cheng-Ting, Liu Shih-Yao, Huang Shu-Yuan, Chien Yin-Hsiu, Hwu Wuh-Liang, Lee Ni-Chung, Tung Yi-Chi |
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 |
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 |
Identification of a novel HOOK3-FGFR1 fusion gene involved in activation of the NF-kappaB pathway. Cancer cell international 2022 1 22 (1): 40. Zhang Xuehong, Wang Furong, Yan Fanzhi, Huang Dan, Wang Haina, Gao Beibei, Gao Yuan, Hou Zhijie, Lou Jiacheng, Li Weiling, Yan Jinso |
Genomic profiling of small bowel adenocarcinoma: a pooled analysis from 3 databases. British journal of cancer 2024 5 . Thomas Aparicio, Julie Henriques, Magali Svrcek, Aziz Zaanan, Sylvain Manfredi, Andrea Casadei-Gardini, David Tougeron, Jean-Marc Gornet, Marine Jary, Eric Terrebonne, Guillaume Piessen, Pauline Afchain, Cédric Lecaille, Marc Pocard, Thierry Lecomte, Margherita Rimini, Frédéric Di Fiore, Valérie Le Brun Ly, Stefano Cascinu, Dewi Vernerey, Pierre Laurent Pu |
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