HuGE Literature Finder
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| 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 |
| 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 |
| Association of polymorphisms with a family history of cancer and the presence of germline mutations in the BRCA1/BRCA2 genes. Hereditary cancer in clinical practice 2016 14 2. Fernandes Gabriela C, Michelli Rodrigo A D, Scapulatempo-Neto Cristovam, Palmero Edenir |
| 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 |
| 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 |
| 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 |
| A novel mutation in FGFR2. American journal of medical genetics. Part A 2015 Jan 167A (1): 123-7. Goos Jacqueline A C, van den Ouweland Ans M W, Swagemakers Sigrid M A, Verkerk Annemieke J M H, Hoogeboom A Jeannette M, van Veelen Marie-Lise C, Mathijssen Irene M J, van der Spek Peter |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
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- Page last updated:Jun 27, 2022
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