Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 10 (of 10 Records) |
Query Trace: Apert Syndrome[original query] |
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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 |
Frequency of activating mutations in FGFR2 exon 7 in bladder tumors from patients with early-onset and regular-onset disease. International journal of clinical and experimental pathology 2014 7 (4): 1708-13. Spiegelberg Christine, Giedl Johannes, Gaisa Nadine T, Rogler Anja, Riener Marc-Oliver, Filbeck Thomas, Burger Maximilian, Ruemmele Petra, Hartmann Arndt, Stoehr Robe |
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 |
Methylenetetrahydrofolate reductase C677T variant in Indian children with craniosynostosis: Its role in the pathogenesis, risk of craniosynostosis. Indian journal of human genetics 2014 Apr 20 (2): 155-9. Pandey Rajeev Kumar, Ali Abid, Singh Amit, Gayan Sukanya, Bajpai Mi |
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 |
Mutations in the FGFR2 gene in Mexican patients with Apert syndrome. Genetics and molecular research : GMR 2015 14 (1): 2341-6. Ibarra-Arce A, Ortiz de Zárate-Alarcón G, Flores-Peña L G, Martínez-Hernández F, Romero-Valdovinos M, Olivo-Díaz |
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 |
Dermal fibroblast transcriptome indicates contribution of WNT signaling pathways in the pathogenesis of Apert syndrome. The Turkish journal of pediatrics 2018 7 59 (6): 619-624. Çetinkaya Arda, Ta?k?ran Ekim, Soyer Tutku, ?im?ek-Kiper Pelin Özlem, Utine Gülen Eda, Tunçbilek Gökhan, Boduro?lu Koray, Alika?ifo?lu Mehm |
Hearing, Speech, Language, and Communicative Participation in Patients With Apert Syndrome: Analysis of Correlation With Fibroblast Growth Factor Receptor 2 Mutation. The Journal of craniofacial surgery 2021 Jul . Kilcoyne Sarah, Luscombe Carrie, Scully Paula, Overton Sarah, Brockbank Sally, Swan Marc C, Johnson David, Wall Steven, Wilkie Andrew O |
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