578 related articles for article (PubMed ID: 32164556)
1. Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations.
Athota JP; Bhat M; Nampoothiri S; Gowrishankar K; Narayanachar SG; Puttamallesh V; Farooque MO; Shetty S
BMC Med Genet; 2020 Mar; 21(1):50. PubMed ID: 32164556
[TBL] [Abstract][Full Text] [Related]
2. Mutational analysis of the PTPN11 gene in Egyptian patients with Noonan syndrome.
Essawi ML; Ismail MF; Afifi HH; Kobesiy MM; El Kotoury A; Barakat MM
J Formos Med Assoc; 2013 Nov; 112(11):707-12. PubMed ID: 24183200
[TBL] [Abstract][Full Text] [Related]
3. PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.
Tartaglia M; Kalidas K; Shaw A; Song X; Musat DL; van der Burgt I; Brunner HG; Bertola DR; Crosby A; Ion A; Kucherlapati RS; Jeffery S; Patton MA; Gelb BD
Am J Hum Genet; 2002 Jun; 70(6):1555-63. PubMed ID: 11992261
[TBL] [Abstract][Full Text] [Related]
4. Hotspots in PTPN11 Gene Among Indian Children With Noonan Syndrome.
Narayanan DL; Pandey H; Moirangthem A; Mandal K; Gupta R; Puri RD; Patil SJ; Phadke SR
Indian Pediatr; 2017 Aug; 54(8):638-643. PubMed ID: 28607217
[TBL] [Abstract][Full Text] [Related]
5. Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations.
Yaoita M; Niihori T; Mizuno S; Okamoto N; Hayashi S; Watanabe A; Yokozawa M; Suzumura H; Nakahara A; Nakano Y; Hokosaki T; Ohmori A; Sawada H; Migita O; Mima A; Lapunzina P; Santos-Simarro F; García-Miñaúr S; Ogata T; Kawame H; Kurosawa K; Ohashi H; Inoue S; Matsubara Y; Kure S; Aoki Y
Hum Genet; 2016 Feb; 135(2):209-22. PubMed ID: 26714497
[TBL] [Abstract][Full Text] [Related]
6. Molecular and clinical profile of patients referred as Noonan or Noonan-like syndrome in Greece: a cohort of 86 patients.
Papadopoulos G; Papadopoulou A; Kosma K; Papadimitriou A; Papaevangelou V; Kanaka-Gantenbein C; Bountouvi E; Kitsiou-Tzeli S
Eur J Pediatr; 2022 Oct; 181(10):3691-3700. PubMed ID: 35904599
[TBL] [Abstract][Full Text] [Related]
7. Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype.
Ekvall S; Hagenäs L; Allanson J; Annerén G; Bondeson ML
Am J Med Genet A; 2011 Jun; 155A(6):1217-24. PubMed ID: 21548061
[TBL] [Abstract][Full Text] [Related]
8. Clinical and molecular characterization of children with Noonan syndrome and other RASopathies in Argentina.
Chinton J; Huckstadt V; Moresco A; Gravina LP; Obregon MG
Arch Argent Pediatr; 2019 Oct; 117(5):330-337. PubMed ID: 31560489
[TBL] [Abstract][Full Text] [Related]
9. Acute lymphoblastic leukemia developing in a patient with Noonan syndrome harboring a PTPN11 germline mutation.
Sakamoto K; Imamura T; Asai D; Goto-Kawashima S; Yoshida H; Fujiki A; Furutani A; Ishida H; Aoki Y; Hosoi H
J Pediatr Hematol Oncol; 2014 Mar; 36(2):e136-9. PubMed ID: 24072241
[TBL] [Abstract][Full Text] [Related]
10. PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome.
Ko JM; Kim JM; Kim GH; Yoo HW
J Hum Genet; 2008; 53(11-12):999-1006. PubMed ID: 19020799
[TBL] [Abstract][Full Text] [Related]
11. The spectrum of cardiac anomalies in Noonan syndrome as a result of mutations in the PTPN11 gene.
Sznajer Y; Keren B; Baumann C; Pereira S; Alberti C; Elion J; Cavé H; Verloes A
Pediatrics; 2007 Jun; 119(6):e1325-31. PubMed ID: 17515436
[TBL] [Abstract][Full Text] [Related]
12. PTPN11 and KRAS gene analysis in patients with Noonan and Noonan-like syndromes.
Brasil AS; Pereira AC; Wanderley LT; Kim CA; Malaquias AC; Jorge AA; Krieger JE; Bertola DR
Genet Test Mol Biomarkers; 2010 Jun; 14(3):425-32. PubMed ID: 20578946
[TBL] [Abstract][Full Text] [Related]
13. Phenotypic spectrum of 80 Greek patients referred as Noonan syndrome and PTPN11 mutation analysis: the value of initial clinical assessment.
Papadopoulou A; Issakidis M; Gole E; Kosma K; Fryssira H; Fretzayas A; Nicolaidou P; Kitsiou-Tzeli S
Eur J Pediatr; 2012 Jan; 171(1):51-8. PubMed ID: 21590266
[TBL] [Abstract][Full Text] [Related]
14. Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders.
Xu S; Fan Y; Sun Y; Wang L; Gu X; Yu Y
BMC Med Genomics; 2017 Oct; 10(1):62. PubMed ID: 29084544
[TBL] [Abstract][Full Text] [Related]
15. Mutational analysis of PTPN11 gene in Taiwanese children with Noonan syndrome.
Hung CS; Lin JL; Lee YJ; Lin SP; Chao MC; Lo FS
J Formos Med Assoc; 2007 Feb; 106(2):169-72. PubMed ID: 17339163
[TBL] [Abstract][Full Text] [Related]
16. High frequency of hotspot mutation in PTPN11 gene among Moroccan patients with Noonan syndrome.
Ouboukss F; Adadi N; Amasdl S; Smaili W; Laarabi FZ; Lyahyai J; Sefiani A; Ratbi I
J Appl Genet; 2024 May; 65(2):303-308. PubMed ID: 37987971
[TBL] [Abstract][Full Text] [Related]
17. New Mutations Associated with Rasopathies in a Central European Population and Genotype-Phenotype Correlations.
Čizmárová M; Hlinková K; Bertok S; Kotnik P; Duba HC; Bertalan R; Poločková K; Košťálová Ľ; Pribilincová Z; Hlavatá A; Kovács L; Ilenčíková D
Ann Hum Genet; 2016 Jan; 80(1):50-62. PubMed ID: 26607044
[TBL] [Abstract][Full Text] [Related]
18. [Phenotype variability in Noonan syndrome patients with and without PTPN11 mutation].
Ferreira LV; Souza SA; Montenegro LR; Arnhold IJ; Pasqualini T; Heinrich JJ; Keselman AC; Mendonça BB; Jorge AA
Arq Bras Endocrinol Metabol; 2007 Apr; 51(3):450-6. PubMed ID: 17546245
[TBL] [Abstract][Full Text] [Related]
19. Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.
Jongmans MC; van der Burgt I; Hoogerbrugge PM; Noordam K; Yntema HG; Nillesen WM; Kuiper RP; Ligtenberg MJ; van Kessel AG; van Krieken JH; Kiemeney LA; Hoogerbrugge N
Eur J Hum Genet; 2011 Aug; 19(8):870-4. PubMed ID: 21407260
[TBL] [Abstract][Full Text] [Related]
20. Clinical variability in a Noonan syndrome family with a new PTPN11 gene mutation.
Bertola DR; Pereira AC; de Oliveira PS; Kim CA; Krieger JE
Am J Med Genet A; 2004 Nov; 130A(4):378-83. PubMed ID: 15384080
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
