Human Genome Epidemiology Literature Finder
Records 1 - 6 (of 6 Records) |
Query Trace: Cryptorchidism and PTPN11[original query] |
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PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. American journal of human genetics 2002 Jun 70 (6): 1555-63. Tartaglia Marco, Kalidas Kamini, Shaw Adam, Song Xiaoling, Musat Dan L, van der Burgt Ineke, Brunner Han G, Bertola Débora R, Crosby Andrew, Ion Andra, Kucherlapati Raju S, Jeffery Steve, Patton Michael A, Gelb Bruce |
[Phenotype variability in Noonan syndrome patients with and without PTPN11 mutation]. Arquivos brasileiros de endocrinologia e metabologia 2007 Apr 51 (3): 450-6. Ferreira Lize V, Souza Silvia A L, Montenegro Luciana R, Arnhold Ivo J P, Pasqualini Titania, Heinrich Juan Jorge, Keselman Ana Claudia, Mendonça Berenice B, Jorge Alexander A |
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 |
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 |
Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations. BMC medical genetics 2020 3 21 (1): 50. Athota Jeevana Praharsha, Bhat Meenakshi, Nampoothiri Sheela, Gowrishankar Kalpana, Narayanachar Sanjeeva Ghanti, Puttamallesh Vinuth, Farooque Mohammed Oomer, Shetty Swat |
[The clinical phenotype and gene analysis of syndromic deafness with PTPN11 gene mutation]. Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery 2022 3 57 (3): 317-323. Gao Y, Li Z C, Ma X L, Gao Y Q, Xiao Y, Dai X, Ma |
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- Page last updated:Apr 22, 2024
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