Human Genome Epidemiology Literature Finder
Records 1 - 26 (of 26 Records) |
Query Trace: Abnormalities and PTPN11[original query] |
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Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome. The Journal of clinical endocrinology and metabolism 2004 Jul 89 (7): 3359-64. Yoshida Rie, Hasegawa Tomonobu, Hasegawa Yukihiro, Nagai Toshiro, Kinoshita Eiichi, Tanaka Yoko, Kanegane Hirokazu, Ohyama Kenji, Onishi Toshikazu, Hanew Kunihiko, Okuyama Torayuki, Horikawa Reiko, Tanaka Toshiaki, Ogata Tsuto |
The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. Blood 2005 Sep 106 (6): 2183-5. Kratz Christian P, Niemeyer Charlotte M, Castleberry Robert P, Cetin Mualla, Bergsträsser Eva, Emanuel Peter D, Hasle Henrik, Kardos Gabriela, Klein Cornelia, Kojima Seiji, Stary Jan, Trebo Monika, Zecca Marco, Gelb Bruce D, Tartaglia Marco, Loh Mignon |
PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype. Genetic testing 2006 10 (3): 186-91. Bertola Débora R, Pereira Alexandre C, Albano Lílian Maria José, De Oliveira Paulo S L, Kim Chong A, Krieger José Eduar |
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 |
Ocular manifestations of Noonan syndrome. Ophthalmic genetics 2012 Mar 33 (1): 1-5. Marin Lenina da Rocha Pitta, da Silva Felipe Theodoro Bezerra Gaspar Carvalho, de Sá Luís Carlos Ferreira, Brasil Amanda Salem, Pereira Alexandre, Furquim Isabel Mosca, Kim Chong Ae, Bertola Débora Rom |
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 |
Mutation Spectrum and Phenotypic Features in Noonan Syndrome with PTPN11 Mutations: Definition of Two Novel Mutations. Indian journal of pediatrics 2016 Jun 83 (6): 517-21. Atik Tahir, Aykut Ayca, Hazan Filiz, Onay Huseyin, Goksen Damla, Darcan Sukran, Tukun Ajlan, Ozkinay Fer |
Mutational status of NRAS, KRAS, and PTPN11 genes is associated with genetic/cytogenetic features in children with B-precursor acute lymphoblastic leukemia. Pediatric blood & cancer 2017 Aug . Liang Der-Cherng, Chen Shih-Hsiang, Liu Hsi-Che, Yang Chao-Ping, Yeh Ting-Chi, Jaing Tang-Her, Hung Iou-Jih, Hou Jen-Yin, Lin Tung-Huei, Lin Chun-Hui, Shih Lee-Yu |
Targeted next generation sequencing and identification of risk factors in World Health Organization defined atypical chronic myeloid leukemia. American journal of hematology 2017 Mar . Patnaik Mrinal M, Barraco Daniela, Lasho Terra L, Finke Christy M, Reichard Kaaren, Hoversten Katherine P, Ketterling Rhett P, Gangat Naseema, Tefferi Ayal |
Identification of novel mutational drivers reveals oncogene dependencies in multiple myeloma. Blood 2018 6 132 (6): 587-597. Walker Brian A, Mavrommatis Konstantinos, Wardell Christopher P, Ashby T Cody, Bauer Michael, Davies Faith E, Rosenthal Adam, Wang Hongwei, Qu Pingping, Hoering Antje, Samur Mehmet, Towfic Fadi, Ortiz Maria, Flynt Erin, Yu Zhinuan, Yang Zhihong, Rozelle Dan, Obenauer John, Trotter Matthew, Auclair Daniel, Keats Jonathan, Bolli Niccolo, Fulciniti Mariateresa, Szalat Raphael, Moreau Philippe, Durie Brian, Stewart A Keith, Goldschmidt Hartmut, Raab Marc S, Einsele Hermann, Sonneveld Pieter, San Miguel Jesus, Lonial Sagar, Jackson Graham H, Anderson Kenneth C, Avet-Loiseau Herve, Munshi Nikhil, Thakurta Anjan, Morgan Gareth |
What biologic factors predict for transformation to AML? Best practice & research. Clinical haematology 2018 11 31 (4): 341-345. Bejar Rafa |
Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation. The British journal of dermatology 2019 Jun 180 (6): 1438-1448. Bessis D, Miquel J, Bourrat E, Chiaverini C, Morice-Picard F, Abadie C, Manna F, Baumann C, Best M, Blanchet P, Bursztejn A-C, Capri Y, Coubes C, Giuliano F, Guillaumont S, Hadj-Rabia S, Jacquemont M-L, Jeandel C, Lacombe D, Mallet S, Mazereeuw-Hautier J, Molinari N, Pallure V, Pernet C, Philip N, Pinson L, Sarda P, Sigaudy S, Vial Y, Willems M, Geneviève D, Verloes A, Cavé |
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 |
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 |
Mutation and Phenotypic Spectrum of Patients With RASopathies. Indian pediatrics 2020 8 . Lallar Meenakshi, Bijarnia-Mahay Sunita, Verma I C, Mandal Kaushik, Puri Ratna D |
Role of lncRNA Morrbid in PTPN11(Shp2)E76K-driven juvenile myelomonocytic leukemia. Blood advances 2020 7 4 (14): 3246-3251. Cai Zhigang, Zhang Chi, Kotzin Jonathan J, Williams Adam, Henao-Mejia Jorge, Kapur Reub |
Clinical and molecular characterization of a multi-institutional cohort of pediatric spinal cord low-grade gliomas. Neuro-oncology advances 2020 10 2 (1): vdaa103. Grob Sydney T, Nobre Liana, Campbell Kristen R, Davies Kurtis D, Ryall Scott, Aisner Dara L, Hoffman Lindsey, Zahedi Shadi, Morin Andrew, Crespo Michele, Nellan Anandani, Green Adam L, Foreman Nicholas, Vibhakar Rajeev, Hankinson Todd C, Handler Michael H, Hawkins Cynthia, Tabori Uri, Kleinschmidt-DeMasters B K, Mulcahy Levy Jean |
Real-life experience with CPX-351 and impact on the outcome of high-risk AML patients: a multicentric French cohort. Blood advances 2021 Jan 5 (1): 176-184. Chiche Edmond, Rahmé Ramy, Bertoli Sarah, Dumas Pierre-Yves, Micol Jean-Baptiste, Hicheri Yosr, Pasquier Florence, Peterlin Pierre, Chevallier Patrice, Thomas Xavier, Loschi Michael, Genthon Alexis, Legrand Ollivier, Mohty Mohamad, Raffoux Emmanuel, Auberger Patrick, Caulier Alexis, Joris Magalie, Bonmati Caroline, Roth-Guepin Gabrielle, Lejeune Caroline, Pigneux Arnaud, Vey Norbert, Recher Christian, Ades Lionel, Cluzeau Thom |
RASopathies and hemostatic abnormalities: key role of platelet dysfunction. Orphanet journal of rare diseases 2021 12 16 (1): 499. Di Candia Francesca, Marchetti Valeria, Cirillo Ferdinando, Di Minno Alessandro, Rosano Carmen, Pagano Stefano, Siano Maria Anna, Falco Mariateresa, Assunto Antonia, Boccia Giovanni, Magliacane Gerardo, Pinna Valentina, De Luca Alessandro, Tartaglia Marco, Di Minno Giovanni, Strisciuglio Pietro, Melis Danie |
Mutation and Phenotypic Spectrum of Patients With RASopathies. Indian pediatrics 2021 1 58 (1): 30-33. Lallar Meenakshi, Bijarnia-Mahay Sunita, Verma I C, Mandal Kaushik, Puri Ratna D |
Genetic Characteristics According to Subgroup of Acute Myeloid Leukemia with Myelodysplasia-Related Changes. Journal of clinical medicine 2022 5 11 (9): . Kang Dain, Jung Jin, Park Silvia, Cho Byung-Sik, Kim Hee-Je, Kim Yeojae, Lee Jong-Mi, Kim Hoon Seok, Ahn Ari, Kim Myungshin, Kim Yongg |
Prediction of survival with intensive chemotherapy in acute myeloid leukemia. American journal of hematology 2022 4 97 (7): 865-876. Sasaki Koji, Ravandi Farhad, Kadia Tapan, DiNardo Courtney, Borthakur Gautam, Short Nicholas, Jain Nitin, Daver Naval, Jabbour Elias, Garcia-Manero Guillermo, Khoury Joseph, Konoplev Sergej, Loghavi Sanam, Patel Keyur, Montalban-Bravo Guillermo, Masarova Lucia, Konopleva Marina, Kantarjian Hag |
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 |
[Genomics of next generation sequencing in pediatric B-acute lymphoblastic leukemia and its impact on minimal residual disease]. Zhonghua er ke za zhi = Chinese journal of pediatrics 2023 6 61 (6): 527-532. Y Y Gao, Y J Jia, B Q Qi, X Y Zhang, Y M Chen, Y Zou, Y Guo, W Y Yang, L Zhang, S C Wang, R R Zhang, T F Liu, Z Song, X F Zhu, X J Ch |
Myeloid sarcoma with NPM1 mutation may be clinically and genetically distinct from AML with NPM1 mutation: a study from the Bone Marrow Pathology Group. Leukemia & lymphoma 2023 3 1-9. Ramia de Cap Maximiliano, Wu Leo P, Hirt Christian, Pihan German A, Patel Sanjay S, Tam Wayne, Bueso-Ramos Carlos E, Kanagal-Shamanna Rashmi, Raess Philipp W, Siddon Alexa, Narayanan Damodaran, Morgan Elizabeth A, Pinkus Geraldine S, Mason Emily F, Hsi Eric D, Rogers Heesun J, Toth Laura, Foucar Kathryn, Hurwitz Stephanie N, Bagg Adam, Rets Anton, George Tracy I, Orazi Attilio, Arber Daniel A, Hasserjian Robert P, Weinberg Olga K, |
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- Page last updated:Apr 16, 2024
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