Human Genome Epidemiology Literature Finder
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Records 1 - 26 (of 26 Records) |
| Query Trace: Syndrome and FGFR2[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 |
| Do Craniosynostosis syndrome phenotypes with both FGFR2 and TWIST mutations have a worse clinical outcome? The Journal of craniofacial surgery 2006 1 17 (1): 166-72. Anderson P J, Netherway D J, Cox T C, Roscioli T, David D |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Apert's syndrome: Study by whole exome sequencing. Genes & diseases 2018 9 5 (2): 119-122. Munshi Anjana, Khetarpal Preeti, Das Satrupa, Rao Venkateshwar, Valecha Monica, Bansal Manita, Kumar Rosh |
| 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 |
| Analysis of Mutation and Loss of Heterozygosity by Whole-Exome Sequencing Yields Insights into Pseudomyxoma Peritonei. The Journal of molecular diagnostics : JMD 2018 6 20 (5): 635-642. Pengelly Reuben J, Rowaiye Babatunde, Pickard Karen, Moran Brendan, Dayal Sanjeev, Tapper William, Mirnezami Alex, Cecil Tom, Mohamed Faheez, Carr Norman, Ennis Sar |
| 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 |
| 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 |
| Discovering Genotype Variants in an Infant with VACTERL through Clinical Exome Sequencing: A Support for Personalized Risk Assessment and Disease Prevention. Pediatric reports 2021 1 13 (1): 45-56. Pelizzo Gloria, Chiricosta Luigi, Mazzon Emanuela, Zuccotti Gian Vincenzo, Avanzini Maria Antonietta, Croce Stefania, Lima Mario, Bramanti Placido, Calcaterra Valer |
| Puberty Status Modifies the Effects of Genetic Variants, Lifestyle Factors and Their Interactions on Adiponectin: The BCAMS Study. Frontiers in endocrinology 2022 1 12 737459. Wu Yunpeng, Zhong Ling, Li Ge, Han Lanwen, Fu Junling, Li Yu, Li Lujiao, Zhang Qian, Guo Yiran, Xiao Xinhua, Qi Lu, Li Ming, Gao Shan, Willi Steven |
| Uncommon molecular alterations in follicular-derived thyroid carcinoma: A single institution study. Pathology, research and practice 2024 5 258 155355. Borislav A Alexiev, Erica R Vormittag-Nocito, Jochen Lorch, Anjana Yeldandi, Paul R Buttars, Lawrence J Jennin |
| Tasurgratinib in patients with cholangiocarcinoma or gastric cancer: Expansion part of the first-in-human phase I study. Cancer science 2024 10 . Chigusa Morizane, Makoto Ueno, Tatsuya Ioka, Masahiro Tajika, Masafumi Ikeda, Kensei Yamaguchi, Hiroki Hara, Hiroshi Yabusaki, Atsushi Miyamoto, Satoru Iwasa, Manabu Muto, Tsutomu Takashima, Keiko Minashi, Yoshito Komatsu, Tomohiro Nishina, Takako Eguchi Nakajima, Atsuchi Takeno, Toshikazu Moriwaki, Masayuki Furukawa, Takatoshi Sahara, Hiroki Ikezawa, Maiko Nomoto, Shuya Takashima, Taisuke Uehara, Setsuo Funasaka, Masakazu Yashiro, Junji Furu |
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