Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 10 (of 10 Records) |
Query Trace: Crouzon Syndrome[original query] |
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Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. American journal of human genetics 2002 Feb 70 (2): 472-86. Kan Shih-hsin, Elanko Navaratnam, Johnson David, Cornejo-Roldan Laura, Cook Jackie, Reich Elsa W, Tomkins Susan, Verloes Alain, Twigg Stephen R F, Rannan-Eliya Sahan, McDonald-McGinn Donna M, Zackai Elaine H, Wall Steven A, Muenke Maximilian, Wilkie Andrew O |
FGFR2 mutations among Thai children with Crouzon and Apert syndromes. The Journal of craniofacial surgery 2003 1 14 (1): 101-4; discussion 105-7. Shotelersuk Vorasuk, Mahatumarat Charan, Ittiwut Chupong, Rojvachiranonda Nond, Srivuthana Sumarlee, Wacharasindhu Suthipong, Tongkobpetch Sirapra |
Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome. European journal of human genetics : EJHG 2006 1 14 (3): 289-98. Lajeunie Elisabeth, Heuertz Solange, El Ghouzzi Vincent, Martinovic Jelena, Renier Dominique, Le Merrer Martine, Bonaventure Jac |
Clinicogenetic study of Turkish patients with syndromic craniosynostosis and literature review. Pediatric neurology 2014 May 50 (5): 482-90. Nur Banu G, Pehlivano?lu Suray, M?hç? Ercan, Cal??kan Mualla, Demir Durkad?n, Alper Ozgül M, Kayserili Hülya, Lüleci Güv |
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 |
Skull base morphology in fibroblast growth factor receptor type 2-related faciocraniosynostosis: a descriptive analysis. Neurosurgery 2015 May 76 (5): 571-83; discussion 583. Coll Guillaume, Arnaud Eric, Collet Corinne, Brunelle Francis, Sainte-Rose Christian, Di Rocco Federi |
Beare-Stevenson syndrome: two new patients, including a novel finding of tracheal cartilaginous sleeve. American journal of medical genetics. Part A 2015 Apr 167A (4): 852-7. Wenger Tara L, Bhoj Elizabeth J, Wetmore Ralph F, Mennuti Michael T, Bartlett Scott P, Mollen Thomas J, McDonald-McGinn Donna M, Zackai Elaine |
Apert and Crouzon syndromes-Cognitive development, brain abnormalities, and molecular aspects. American journal of medical genetics. Part A 2016 Mar . Fernandes Marilyse B L, Maximino Luciana P, Perosa Gimol B, Abramides Dagma V M, Passos-Bueno Maria Rita, Yacubian-Fernandes Adria |
FGFR2 mutations and associated clinical observations in two Chinese patients with Crouzon syndrome. Molecular medicine reports 2017 9 16 (5): 5841-5846. Lin Ying, Gao Hongbin, Ai Siming, Eswarakumar Jacob V P, Zhu Yi, Chen Chuan, Li Tao, Liu Bingqian, Jiang Hongye, Liu Yuhua, Li Yonghao, Wu Qingxiu, Li Haichun, Liang Xiaoling, Jin Chenjin, Huang Xinhua, Lu L |
A Pilot Study of Identification Genetic Background of Craniosynostosis Cases. The Journal of craniofacial surgery 2020 11 32 (3): 1059-1062. Atli Emine Ikbal, Yalcintepe Sinem, Atli Engin, Demir Selma, Mail Cisem, Eker Damla, Kalkan Rasime, Gurkan Hak |
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