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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Oct 1, 2023. (Total: 221588Documents)
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Records 1 - 16 (of 16 Records)

Query Trace: Noonan Syndrome and BRAF[original query]
Genotype differences in cognitive functioning in Noonan syndrome.
Genes, brain, and behavior 2009 Apr 8 (3): 275-82.
Pierpont E I, Pierpont M E, Mendelsohn N J, Roberts A E, Tworog-Dube E, Seidenberg M
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
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
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
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
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
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
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
Noonan Syndrome in Thai Children.
Indian pediatrics 2020 10 57 (10): 967-968.
Boonchooduang Nonglak, Louthrenoo Orawan, Tanpaiboon Prano
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
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
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