Human Genome Epidemiology Literature Finder
Records 1 - 11 (of 11 Records) |
Query Trace: Syndrome and FGFR3[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 |
Clinical and molecular diagnosis of the skeletal dysplasias associated with mutations in the gene encoding Fibroblast Growth Factor Receptor 3 (FGFR3) in Portugal. Clinical genetics 2009 Feb 75 (2): 150-6. Almeida M R, Campos-Xavier A B, Medeira A, Cordeiro I, Sousa A B, Lima M, Soares G, Rocha M, Saraiva J, Ramos L, Sousa S, Marcelino J P, Correia A, Santos H |
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 |
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 |
Assessing the midface in Muenke syndrome: A cephalometric analysis and review of the literature. Journal of plastic, reconstructive & aesthetic surgery : JPRAS 2016 Jul . Samra Fares, Bauder Andrew R, Swanson Jordan W, Whitaker Linton A, Bartlett Scott P, Taylor Jesse |
Clonal Relatedness and Mutational Differences between Upper Tract and Bladder Urothelial Carcinoma. Clinical cancer research : an official journal of the American Association for Cancer Research 2018 10 25 (3): 967-976. Audenet François, Isharwal Sumit, Cha Eugene K, Donoghue Mark T A, Drill Esther N, Ostrovnaya Irina, Pietzak Eugene J, Sfakianos John P, Bagrodia Aditya, Murugan Paari, Dalbagni Guido, Donahue Timothy F, Rosenberg Jonathan E, Bajorin Dean F, Arcila Maria E, Hechtman Jaclyn F, Berger Michael F, Taylor Barry S, Al-Ahmadie Hikmat, Iyer Gopa, Bochner Bernard H, Coleman Jonathan A, Solit David |
Genomic Characterization of Upper-Tract Urothelial Carcinoma in Patients With Lynch Syndrome. JCO precision oncology 2019 3 2018 . Donahu Timothy F, Bagrodia Aditya, Audenet François, Donoghue Mark T A, Cha Eugene K, Sfakianos John P, Sperling Dahlia, Al-Ahmadie Hikmat, Clendenning Mark, Rosty Christophe, Buchanan Daniel D, Jenkins Mark, Hopper John, Winship Ingrid, Templeton Allyson S, Walsh Michael F, Stadler Zsofia K, Iyer Gopa, Taylor Barry, Coleman Jonathan, Lindor Noralane M, Solit David B, Bochner Bernard |
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 |
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 |
High Prevalence of DICER1 Mutations and Low Frequency of Gene Fusions in Pediatric Follicular-Patterned Tumors of the Thyroid. Endocrine pathology 2021 7 32 (3): 336-346. Bae Ja-Seong, Jung Seung-Hyun, Hirokawa Mitsuyoshi, Bychkov Andrey, Miyauchi Akira, Lee Sohee, Chung Yeun-Jun, Jung Chan Kw |
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- Page last updated:Apr 22, 2024
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