HuGE Literature Finder
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| The Prognostic Ability of RAS Pathway-Related Gene Mutations in Patients with Myeloid Neoplasms Treated with Hypomethylating Agents. Acta haematologica 2021 Jul 1-11. Park Hee Sue, Son Bo Ra, Shin Kyeong Seob, Byeon Seonggyu, Kim Hee Kyung, Yang Yaewon, Jeong Yusook, Han Hye Sook, Lee Ki Hyeong, Kwon Jihy |
| Noonan syndrome patients beyond the obvious phenotype: A potential unfavorable metabolic profile. American journal of medical genetics. Part A 2020 Dec . Noronha Renata M, Villares Sandra M F, Torres Natalia, Quedas Elisangela P S, Homma Thais Kataoka, Albuquerque Edoarda V A, Moraes Michelle B, Funari Mariana F A, Bertola Debora R, Jorge Alexander A L, Malaquias Alexsandra |
| A phenome-wide association study of 26 mendelian genes reveals phenotypic expressivity of common and rare variants within the general population. PLoS genetics 2020 Nov 16 (11): e1008802. Tcheandjieu Catherine, Aguirre Matthew, Gustafsson Stefan, Saha Priyanka, Potiny Praneetha, Haendel Melissa, Ingelsson Erik, Rivas Manuel A, Priest James |
| Molecular basis of ETV6-mediated predisposition to childhood acute lymphoblastic leukemia. Blood 2020 Jul . Nishii Rina, Baskin-Doerfler Rebekah, Yang Wentao, Oak Ninad, Zhao Xujie, Yang Wenjian, Hoshitsuki Keito, Bloom Mackenzie, Verbist Katherine C, Burns Melissa A, Li Zhenhua, Lin Ting-Nien, Qian Maoxiang, Moriyama Takaya, Gastier-Foster Julie M, Rabin Karen R, Raetz Elizabeth, Mullighan Charles G, Pui Ching-Hon, Yeoh Allen Eng Juh, Zhang Jinghui, Metzger Monika, Klco Jeffery M, Hunger Stephen P, Newman Scott, Wu Gang, Loh Mignon L, Nichols Kim E, Yang Jun |
| Genotype-phenotype correlation analysis in Japanese patients with Noonan syndrome. Endocrine journal 2019 Jul . Shoji Yasuko, Ida Shinobu, Niihori Tetsuya, Aoki Yoko, Okamoto Nobuhiko, Etani Yuri, Kawai Masano |
| 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 |
| Genetic Polymorphisms Associated with the Neutrophil?Lymphocyte Ratio and Their Clinical Implications for Metabolic Risk Factors. Journal of clinical medicine 2018 Aug 7 (8): . Park Boram, Choe Eun Kyung, Kang Hae Yeon, Shin Eunsoon, Lee Sangwoo, Won Sung |
| 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 |
| The genetic landscape of paediatric de novo acute myeloid leukaemia as defined by single nucleotide polymorphism array and exon sequencing of 100 candidate genes. British journal of haematology 2016 Mar . Olsson Linda, Zettermark Sofia, Biloglav Andrea, Castor Anders, Behrendtz Mikael, Forestier Erik, Paulsson Kajsa, Johansson Bert |
| 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 |
| Molecular Characterization of Pediatric Acute Myeloid Leukemia: Results of a Multicentric Study in Brazil. Archives of medical research 2016 11 47 (8): 656-667. Andrade Francianne Gomes, Noronha Elda Pereira, Brisson Gisele Dallapicola, Dos Santos Vicente Bueno Filipe, Cezar Ingrid Sardou, Terra-Granado Eugênia, Thuler Luiz Claudio Santos, Pombo-de-Oliveira Maria S, |
| 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 |
| New Mutations Associated with Rasopathies in a Central European Population and Genotype-Phenotype Correlations. Annals of human genetics 2015 Nov . ?izmárová M, Hlinková K, Bertok S, Kotnik P, Duba H C, Bertalan R, Polo?ková K, Koš?álová ?, Pribilincová Z, Hlavatá A, Kovács L, Ilen?íková |
| Chronic pain in Noonan Syndrome: A previously unreported but common symptom. American journal of medical genetics. Part A 2015 Aug . Vegunta Sravanthi, Cotugno Richard, Williamson Amber, Grebe Theresa |
| The first PTPN1 1 mutations in hotspot exons reported in Moroccan children with Noonan syndrome and comparison of mutation rate to previous studies. Turkish journal of medical sciences 2015 45 (2): 306-12. El Bouchikhi Ihssane, Samri Imane, Iraqui Houssaini Mohammed, Trhanint Saaid, Bouguenouch Laila, Sayel Hanane, Hida Moustapha, Atmani Samir, Ouldim Kar |
| TET2 mutations predict response to hypomethylating agents in myelodysplastic syndrome patients. Blood 2014 Oct 124 (17): 2705-12. Bejar Rafael, Lord Allegra, Stevenson Kristen, Bar-Natan Michal, Pérez-Ladaga Albert, Zaneveld Jacques, Wang Hui, Caughey Bennett, Stojanov Petar, Getz Gad, Garcia-Manero Guillermo, Kantarjian Hagop, Chen Rui, Stone Richard M, Neuberg Donna, Steensma David P, Ebert Benjamin |
| Pleiotropic genes for metabolic syndrome and inflammation. Molecular genetics and metabolism 2014 Aug 112 (4): 317-38. Kraja Aldi T, Chasman Daniel I, North Kari E, Reiner Alexander P, Yanek Lisa R, Kilpeläinen Tuomas O, Smith Jennifer A, Dehghan Abbas, Dupuis Josée, Johnson Andrew D, Feitosa Mary F, Tekola-Ayele Fasil, Chu Audrey Y, Nolte Ilja M, Dastani Zari, Morris Andrew, Pendergrass Sarah A, Sun Yan V, Ritchie Marylyn D, Vaez Ahmad, Lin Honghuang, Ligthart Symen, Marullo Letizia, Rohde Rebecca, Shao Yaming, Ziegler Mark A, Im Hae Kyung, , , , , , , , , , , , Schnabel Renate B, Jørgensen Torben, Jørgensen Marit E, Hansen Torben, Pedersen Oluf, Stolk Ronald P, Snieder Harold, Hofman Albert, Uitterlinden Andre G, Franco Oscar H, Ikram M Arfan, Richards J Brent, Rotimi Charles, Wilson James G, Lange Leslie, Ganesh Santhi K, Nalls Mike, Rasmussen-Torvik Laura J, Pankow James S, Coresh Josef, Tang Weihong, Linda Kao W H, Boerwinkle Eric, Morrison Alanna C, Ridker Paul M, Becker Diane M, Rotter Jerome I, Kardia Sharon L R, Loos Ruth J F, Larson Martin G, Hsu Yi-Hsiang, Province Michael A, Tracy Russell, Voight Benjamin F, Vaidya Dhananjay, O'Donnell Christopher J, Benjamin Emelia J, Alizadeh Behrooz Z, Prokopenko Inga, Meigs James B, Borecki Ingrid |
| Frequent cases of RAS-mutated Down syndrome acute lymphoblastic leukaemia lack JAK2 mutations. Nature communications 2014 5 4654. Nikolaev Sergey I, Garieri Marco, Santoni Federico, Falconnet Emilie, Ribaux Pascale, Guipponi Michel, Murray Aoife, Groet Jürgen, Giarin Emanuela, Basso Giuseppe, Nizetic Dean, Antonarakis Stylianos |
| Large-scale pooled next-generation sequencing of 1077 genes to identify genetic causes of short stature. The Journal of clinical endocrinology and metabolism 2013 Aug 98 (8): E1428-37. Wang Sophie R, Carmichael Heather, Andrew Shayne F, Miller Timothy C, Moon Jennifer E, Derr Michael A, Hwa Vivian, Hirschhorn Joel N, Dauber Andr |
| A common variant in the PTPN11 gene contributes to the risk of tetralogy of Fallot. Circulation. Cardiovascular genetics 2012 Jun 5 (3): 287-92. Goodship Judith A, Hall Darroch, Topf Ana, Mamasoula Chrysovalanto, Griffin Helen, Rahman Thahira J, Glen Elise, Tan Huay, Palomino Doza Julian, Relton Caroline L, Bentham Jamie, Bhattacharya Shoumo, Cosgrove Catherine, Brook David, Granados-Riveron Javier, Bu'Lock Frances A, O'Sullivan John, Stuart A Graham, Parsons Jonathan, Cordell Heather J, Keavney Berna |
| 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 |
| 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 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 |
| Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation. European journal of human genetics : EJHG 2011 Aug 19 (8): 870-4. Jongmans Marjolijn C J, van der Burgt Ineke, Hoogerbrugge Peter M, Noordam Kees, Yntema Helger G, Nillesen Willy M, Kuiper Roland P, Ligtenberg Marjolijn J L, van Kessel Ad Geurts, van Krieken J Han J M, Kiemeney Lambertus A L M, Hoogerbrugge Nicoli |
| Phenotypic spectrum of 80 Greek patients referred as Noonan syndrome and PTPN11 mutation analysis: the value of initial clinical assessment. European journal of pediatrics 2011 May . Papadopoulou A, Issakidis M, Gole E, Kosma K, Fryssira H, Fretzayas A, Nicolaidou P, Kitsiou-Tzeli S |
| The language phenotype of children and adolescents with Noonan syndrome. Journal of speech, language, and hearing research : JSLHR 2010 Aug 53 (4): 917-32. Pierpont Elizabeth I, Ellis Weismer Susan, Roberts Amy E, Tworog-Dube Erica, Pierpont Mary Ella, Mendelsohn Nancy J, Seidenberg Mark |
| 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 |
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- Page last updated:Jun 28, 2022
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