Human Genome Epidemiology Literature Finder
Records 1 - 7 (of 7 Records) |
Query Trace: Abnormalities and MAP2K2[original query] |
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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 |
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 |
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 |
Characterization of bone homeostasis in individuals affected by cardio-facio-cutaneous syndrome. American journal of medical genetics. Part A 2021 12 188 (2): 414-421. Leoni Chiara, Viscogliosi Germana, Onesimo Roberta, Bisanti Cristian, Massese Miriam, Giorgio Valentina, Corbo Fabio, Tedesco Marta, Acampora Anna, Cipolla Clelia, Dell'Atti Claudia, Flex Elisabetta, Gervasoni Jacopo, Primiano Aniello, Rigante Donato, Tartaglia Marco, Zampino Giusep |
Systematic ophthalmologic evaluation in cardio-facio-cutaneous syndrome: A genotype-endophenotype correlation. American journal of medical genetics. Part A 2023 9 . Emanuele Crincoli, Chiara Leoni, Germana Viscogliosi, Roberta Onesimo, Roberta Mattei, Marco Tartaglia, Fiammetta Catania, Stanislao Rizzo, Giuseppe Zampino, Annabella Saler |
Molecular and phenotypic spectrum of cardio-facio-cutaneous syndrome in Chinese patients. Orphanet journal of rare diseases 2023 9 18 (1): 284. Biyun Feng, Xin Li, Qianwen Zhang, Yirou Wang, Shili Gu, Ru-En Yao, Zhiying Li, Shiyang Gao, Guoying Chang, Qun Li, Niu Li, Lijun Fu, Jian Wang, Xiumin Wa |
DNA Copy Number Alterations and Copy Neutral Loss of Heterozygosity in Adult Ph-Negative Acute B-Lymphoblastic Leukemia: Focus on the Genes Involved. International journal of molecular sciences 2023 12 24 (24): . Natalya Risinskaya, Maria Gladysheva, Abdulpatakh Abdulpatakhov, Yulia Chabaeva, Valeriya Surimova, Olga Aleshina, Anna Yushkova, Olga Dubova, Nikolay Kapranov, Irina Galtseva, Sergey Kulikov, Tatiana Obukhova, Andrey Sudarikov, Elena Parovichniko |
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