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Query Trace: Noonan Syndrome and KRAS[original query] |
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PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome. Journal of human genetics 2008 53 (11-12): 999-1006. Ko Jung Min, Kim Jae-Min, Kim Gu-Hwan, Yoo Han-Wo |
Response to growth hormone in short children with Noonan syndrome: correlation to genotype. Hormone research 2009 12 72 Suppl 2 52-6. Binder Gerha |
Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations. European journal of human genetics : EJHG 2009 Jun 17 (6): 733-40. Dentici Maria Lisa, Sarkozy Anna, Pantaleoni Francesca, Carta Claudio, Lepri Francesca, Ferese Rosangela, Cordeddu Viviana, Martinelli Simone, Briuglia Silvana, Digilio Maria Cristina, Zampino Giuseppe, Tartaglia Marco, Dallapiccola Bru |
PTPN11 and KRAS gene analysis in patients with Noonan and Noonan-like syndromes. Genetic testing and molecular biomarkers 2010 Jun 14 (3): 425-32. Brasil Amanda Salem, Pereira Alexandre C, Wanderley Luciana Turolla, Kim Chong Ae, Malaquias Alexsandra C, Jorge Alexander A L, Krieger José Eduardo, Bertola Débora Rom |
Investigation of gene dosage imbalances in patients with Noonan syndrome using multiplex ligation-dependent probe amplification analysis. European journal of medical genetics 0 53 (3): 117-21. Nyström Anna-Maja, Ekvall Sara, Thuresson Ann-Charlotte, Denayer Ellen, Legius Eric, Kamali-Moghaddam Masood, Westermark Bengt, Annerén Göran, Bondeson Marie-Loui |
Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: cardiofaciocutaneous syndrome and Noonan syndrome. American journal of medical genetics. Part A 2010 Mar 152A (3): 591-600. Pierpont Elizabeth I, Pierpont Mary Ella, Mendelsohn Nancy J, Roberts Amy E, Tworog-Dube Erica, Rauen Katherine A, Seidenberg Mark |
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 |
Gene mutations in the Ras pathway and the prognostic implication in Korean patients with juvenile myelomonocytic leukemia. Annals of hematology 2012 Apr 91 (4): 511-7. Park Hyung-Doo, Lee Soo Hyun, Sung Ki Woong, Koo Hong Hoe, Jung Nak Gyun, Cho Bin, Kim Hak Ki, Park In-Ae, Lee Ki-O, Ki Chang-Seok, Kim Sun-Hee, Yoo Keon Hee, Kim Hee-J |
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 |
Prevalence of sequence variants in the RAS-mitogen activated protein kinase signaling pathway in pre-adolescent children with hypertrophic cardiomyopathy. Circulation. Cardiovascular genetics 2012 Jun 5 (3): 317-26. Kaski Juan Pablo, Syrris Petros, Shaw Adam, Alapi Krisztina Zuborne, Cordeddu Viviana, Esteban Maria Teresa Tome, Jenkins Sharon, Ashworth Michael, Hammond Peter, Tartaglia Marco, McKenna William J, Elliott Perry |
Alterations in RAS-MAPK genes in 200 Spanish patients with Noonan and other neuro-cardio-facio-cutaneous syndromes. Genotype and cardiopathy. Revista española de cardiología (English ed.) 2012 May 65 (5): 447-55. Ezquieta Begoña, Santomé José L, Carcavilla Atilano, Guillén-Navarro Encarna, Pérez-Aytés Antonio, Sánchez del Pozo Jaime, García-Miñaur Sixto, Castillo Emilia, Alonso Milagros, Vendrell Teresa, Santana Alfredo, Maroto Enrique, Galbis Lilia |
Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations. Human genetics 2015 Dec . Yaoita Masako, Niihori Tetsuya, Mizuno Seiji, Okamoto Nobuhiko, Hayashi Shion, Watanabe Atsushi, Yokozawa Masato, Suzumura Hiroshi, Nakahara Akihiko, Nakano Yusuke, Hokosaki Tatsunori, Ohmori Ayumi, Sawada Hirofumi, Migita Ohsuke, Mima Aya, Lapunzina Pablo, Santos-Simarro Fernando, García-Miñaúr Sixto, Ogata Tsutomu, Kawame Hiroshi, Kurosawa Kenji, Ohashi Hirofumi, Inoue Shin-Ichi, Matsubara Yoichi, Kure Shigeo, Aoki Yo |
The impact of the genetic background in the Noonan syndrome phenotype induced by K-Ras(V14I). Rare diseases (Austin, Tex.) 2015 3 (1): e1045169. Hernández-Porras Isabel, Jiménez-Catalán Beatriz, Schuhmacher Alberto J, Guerra Carm |
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 |
Growth patterns of patients with Noonan syndrome: correlation with age and genotype. European journal of endocrinology / European Federation of Endocrine Societies 2016 Feb . Cessans Catie, Ehlinger Virginie, Arnaud Catherine, Yart Armelle, Capri Yline, Barat Pascal, Cammas Benoit, Lacombe Didier, Coutant Regis, David Albert, Baron Sabine, Weill Jacques, Leheup Bruno, Nicolino Marc, Salles Jean-Pierre, Verloes Alain, Tauber Maithe, Cavé Hélène, Edouard Thom |
Novel mutations and their genotype-phenotype correlations in patients with Noonan syndrome, using next-generation sequencing. Advances in medical sciences 2017 9 63 (1): 87-93. Tafazoli Alireza, Eshraghi Peyman, Pantaleoni Francesca, Vakili Rahim, Moghaddassian Morteza, Ghahraman Martha, Muto Valentina, Paolacci Stefano, Golyan Fatemeh Fardi, Abbaszadegan Mohammad Re |
Comparison of effectiveness of growth hormone therapy according to disease-causing genes in children with Noonan syndrome. Korean journal of pediatrics 2018 12 62 (7): 274-280. Jo Kyo Jin, Kim Yoo Mi, Yoon Ju Young, Lee Yeoun Joo, Han Young Mi, Yoo Han-Wook, Kim Hyang-Sook, Cheon Chong K |
Severe Noonan syndrome phenotype associated with a germline Q71R MRAS variant: a recurrent substitution in RAS homologs in various cancers. American journal of medical genetics. Part A 2019 6 179 (8): 1628-1630. Suzuki Hisato, Takenouchi Toshiki, Uehara Tomoko, Takasago Satoshi, Ihara Satoshi, Yoshihashi Hiroshi, Kosaki Kenji |
Molecular and phenotypic spectrum of Noonan syndrome in Chinese patients. Clinical genetics 2019 6 96 (4): 290-299. Li Xin, Yao Ruen, Tan Xin, Li Niu, Ding Yu, Li Juan, Chang Guoying, Chen Yao, Ma Lizhuang, Wang Jian, Fu Lijun, Wang Xium |
Noonan Syndrome in South Africa: Clinical and Molecular Profiles. Frontiers in genetics 2019 5 10 333. Tekendo-Ngongang Cedrik, Agenbag Gloudi, Bope Christian Domilongo, Esterhuizen Alina Izabela, Wonkam Ambroi |
Clinical and mutation profile of pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: results from a Chinese cohort. Orphanet journal of rare diseases 2019 2 14 (1): 29. Chen Hao, Li Xin, Liu Xiaoliang, Wang Jian, Zhang Zhen, Wu Jinjin, Huang Meirong, Guo Ying, Li Fen, Wang Xiumin, Fu Lij |
The spectrum of genetic variants and phenotypic features of Southeast Asian patients with Noonan syndrome. Molecular genetics & genomic medicine 2019 2 7 (4): e00581. Koh Ai-Ling, Tan Ee-Shien, Brett Maggie S, Lai Angeline H M, Jamuar Saumya Shekhar, Ng Ivy, Tan Ene-Ch |
Providing more evidence on LZTR1 variants in Noonan syndrome patients. American journal of medical genetics. Part A 2019 Dec . Chinton Josefina, Huckstadt Victoria, Mucciolo Mafalda, Lepri Francesca, Novelli Antonio, Gravina Luis Pablo, Obregon María Gabrie |
In-Silico and In-Vitro Analysis of Human SOS1 Protein Causing Noonan Syndrome - A Novel Approach to Explore the Molecular Pathways. Current genomics 2022 4 22 (7): 526-540. Sigamani Vinoth, Rajasingh Sheeja, Gurusamy Narasimman, Panda Arunima, Rajasingh Johns |
New insights on Noonan syndrome's clinical phenotype: a single center retrospective study. BMC pediatrics 2022 12 22 (1): 734. Baldo Francesco, Fachin Alice, Da Re Beatrice, Rubinato Elisa, Bobbo Marco, Barbi Egid |
Molecular and clinical profile of patients referred as Noonan or Noonan-like syndrome in Greece: a cohort of 86 patients. European journal of pediatrics 2022 Oct 181 (10): 3691-3700. Papadopoulos George, Papadopoulou Anna, Kosma Konstantina, Papadimitriou Anastasios, Papaevangelou Vassiliki, Kanaka-Gantenbein Christina, Bountouvi Evangelia, Kitsiou-Tzeli Soph |
Noonan syndrome and Noonan-like syndrome with loose anagen hair: rare phenotypes may emerge during follow-up. Translational pediatrics 2024 8 13 (7): 1161-1168. Ziqin Liu, Jianming Lai, Fuying So |
- Page last reviewed:Feb 1, 2024
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