Human Genome Epidemiology Literature Finder
Rare Diseases
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Records 1 - 17 (of 17 Records) |
| Query Trace: Costello Syndrome[original query] |
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| High resolution melting analysis for mutation detection for PTPN11 gene: applications of this method for diagnosis of Noonan syndrome. Clinica chimica acta; international journal of clinical chemistry 2009 Nov 409 (1-2): 75-7. Lo Fu-Sung, Luo Ji-Dung, Lee Yann-Jinn, Shu San-Ging, Kuo Min-Tzu, Chiou Chiuan-Chi |
| Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation. Human mutation 2010 1 31 (3): 284-94. Kobayashi Tomoko, Aoki Yoko, Niihori Tetsuya, Cavé Hélène, Verloes Alain, Okamoto Nobuhiko, Kawame Hiroshi, Fujiwara Ikuma, Takada Fumio, Ohata Takako, Sakazume Satoru, Ando Tatsuya, Nakagawa Noriko, Lapunzina Pablo, Meneses Antonio G, Gillessen-Kaesbach Gabriele, Wieczorek Dagmar, Kurosawa Kenji, Mizuno Seiji, Ohashi Hirofumi, David Albert, Philip Nicole, Guliyeva Afag, Narumi Yoko, Kure Shigeo, Tsuchiya Shigeru, Matsubara Yoic |
| Spectrum of mutations in Noonan syndrome and their correlation with phenotypes. The Journal of pediatrics 2011 Dec 159 (6): 1029-35. Lee Beom Hee, Kim Jae-Min, Jin Hye Young, Kim Gu-Hwan, Choi Jin-Ho, Yoo Han-Wo |
| Assessing genotype-phenotype correlation in Costello syndrome using a severity score. Genetics in medicine : official journal of the American College of Medical Genetics 2013 Jul 15 (7): 554-7. McCormick Elizabeth M, Hopkins Elizabeth, Conway Laura, Catalano Sarah, Hossain Jobayer, Sol-Church Katia, Stabley Deborah L, Gripp Karen |
| Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes. British journal of cancer 2015 Mar . Kratz C P, Franke L, Peters H, Kohlschmidt N, Kazmierczak B, Finckh U, Bier A, Eichhorn B, Blank C, Kraus C, Kohlhase J, Pauli S, Wildhardt G, Kutsche K, Auber B, Christmann A, Bachmann N, Mitter D, Cremer F W, Mayer K, Daumer-Haas C, Nevinny-Stickel-Hinzpeter C, Oeffner F, Schlüter G, Gencik M, Überlacker B, Lissewski C, Schanze I, Greene M H, Spix C, Zenker |
| Cardiac Manifestations and Associations with Gene Mutations in Patients Diagnosed with RASopathies. Pediatric cardiology 2016 Aug . Jhang Won Kyoung, Choi Jin-Ho, Lee Beom Hee, Kim Gu-Hwan, Yoo Han-Wo |
| Novel pathogenic variant in the HRAS gene with lethal outcome and a broad phenotypic spectrum among Polish patients with Costello syndrome. Clinical dysmorphology 2016 12 26 (2): 83-90. Pelc Magdalena, Ciara El?bieta, Jezela-Stanek Aleksandra, Kugaudo Monika, Cie?likowska Agata, Jurkiewicz Dorota, Janeczko Magdalena, Chrzanowska Krystyna, Krajewska-Walasek Ma?gorzata, Skórka Aga |
| Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes. Human genetics 2018 10 138 (1): 21-35. Umeki Ikumi, Niihori Tetsuya, Abe Taiki, Kanno Shin-Ichiro, Okamoto Nobuhiko, Mizuno Seiji, Kurosawa Kenji, Nagasaki Keisuke, Yoshida Makoto, Ohashi Hirofumi, Inoue Shin-Ichi, Matsubara Yoichi, Fujiwara Ikuma, Kure Shigeo, Aoki Yo |
| Clinical and molecular characterization of children with Noonan syndrome and other RASopathies in Argentina. Archivos argentinos de pediatria 2019 9 117 (5): 330-337. Chinton Josefina, Huckstadt Victoria, Moresco Angélica, Gravina L Pablo, Obregon M Gabrie |
| Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan. American journal of medical genetics. Part A 2019 12 182 (2): 357-364. Lee Chung-Lin, Tan Louis Tan Hock-Cheong, Lin Hsiang-Yu, Hwu Wuh-Liang, Lee Ni-Chung, Chien Yin-Hsiu, Chuang Chih-Kuang, Wu Mei-Hwan, Wang Jou-Kou, Chu Shao-Yin, Lin Ju-Li, Lo Fu-Sung, Su Pen-Hua, Hsu Chia-Chi, Ko Yu-Yuan, Chen Ming-Ren, Chiu Hui-Ching, Lin Shuan-P |
| Comparison of hair manifestations in cardio-facio-cutaneous and Costello syndromes highlights the influence of the RAS pathway on hair growth. Journal of the European Academy of Dermatology and Venereology : JEADV 2019 11 34 (3): 601-607. Urban J, Qi L, Zhao H, Rybak I, Rauen K A, Kiuru |
| Germline Cancer Predisposition Variants in?Pediatric Rhabdomyosarcoma: A Report From the Children's Oncology Group. Journal of the National Cancer Institute 2020 12 113 (7): 875-883. Li He, Sisoudiya Saumya D, Martin-Giacalone Bailey A, Khayat Michael M, Dugan-Perez Shannon, Marquez-Do Deborah A, Scheurer Michael E, Muzny Donna, Boerwinkle Eric, Gibbs Richard A, Chi Yueh-Yun, Barkauskas Donald A, Lo Tammy, Hall David, Stewart Douglas R, Schiffman Joshua D, Skapek Stephen X, Hawkins Douglas S, Plon Sharon E, Sabo Aniko, Lupo Philip |
| Bone tissue homeostasis and risk of fractures in Costello syndrome: A 4-year follow-up study. American journal of medical genetics. Part A 2021 12 188 (2): 422-430. Leoni Chiara, Bisanti Cristian, Viscogliosi Germana, Onesimo Roberta, Massese Miriam, Giorgio Valentina, Corbo Fabio, Acampora Anna, Cipolla Clelia, Flex Elisabetta, Dell'Atti Claudia, Rigante Donato, Tartaglia Marco, Zampino Giusep |
| Clinical and molecular characterization of Costello syndrome in unrelated Mexican patients. Clinical dysmorphology 2021 11 31 (2): 55-58. Ríos-González Blanca E, Rodríguez-Ortiz Jessica F, Castro-Martínez Anna G, Magaña-Torres María T, Barros-Núñez Patric |
| Musculo-skeletal phenotype of Costello syndrome and cardio-facio-cutaneous syndrome: insights on the functional assessment status. Orphanet journal of rare diseases 2021 1 16 (1): 43. Leoni Chiara, Romeo Domenico Marco, Pelliccioni Michele, Di Già Mariangela, Onesimo Roberta, Giorgio Valentina, Flex Elisabetta, Tedesco Marta, Tartaglia Marco, Rigante Donato, Valassina Antonio, Zampino Giusep |
| Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment. Journal of clinical medicine 2023 8 12 (15): . Atilano Carcavilla, Ana Cambra, José L Santomé, Verónica Seidel, Jaime Cruz, Milagros Alonso, Jesús Pozo, Irene Valenzuela, Encarna Guillén-Navarro, Fernando Santos-Simarro, Isabel González-Casado, Amparo Rodríguez, Constancio Medrano, Juan Pedro López-Siguero, Begoña Ezquie |
| Cancer in Costello syndrome: a systematic review and meta-analysis. British journal of cancer 2023 3 . Astiazaran-Symonds Esteban, Ney Gina M, Higgs Cecilia, Oba Leatrisse, Srivastava Radhika, Livinski Alicia A, Rosenberg Philip S, Stewart Douglas |
- Page last reviewed:Feb 1, 2023
- Page last updated:Sep 18, 2023
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