580 related articles for article (PubMed ID: 26467218)
1. Mutation in NRAS in familial Noonan syndrome--case report and review of the literature.
Ekvall S; Wilbe M; Dahlgren J; Legius E; van Haeringen A; Westphal O; Annerén G; Bondeson ML
BMC Med Genet; 2015 Oct; 16():95. PubMed ID: 26467218
[TBL] [Abstract][Full Text] [Related]
2. Constitutional NRAS mutations are rare among patients with Noonan syndrome or juvenile myelomonocytic leukemia.
Kraoua L; Journel H; Bonnet P; Amiel J; Pouvreau N; Baumann C; Verloes A; Cavé H
Am J Med Genet A; 2012 Oct; 158A(10):2407-11. PubMed ID: 22887781
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-Noonan syndrome.
Ekvall S; Sjörs K; Jonzon A; Vihinen M; Annerén G; Bondeson ML
Am J Med Genet A; 2014 Mar; 164A(3):579-87. PubMed ID: 24357598
[TBL] [Abstract][Full Text] [Related]
5. A severe form of Noonan syndrome and autosomal dominant café-au-lait spots - evidence for different genetic origins.
Nyström AM; Ekvall S; Strömberg B; Holmström G; Thuresson AC; Annerén G; Bondeson ML
Acta Paediatr; 2009 Apr; 98(4):693-8. PubMed ID: 19120036
[TBL] [Abstract][Full Text] [Related]
6. Noonan syndrome: comparing mutation-positive with mutation-negative dutch patients.
Croonen EA; Nillesen W; Schrander C; Jongmans M; Scheffer H; Noordam C; Draaisma JM; van der Burgt I; Yntema HG
Mol Syndromol; 2013 Jun; 4(5):227-34. PubMed ID: 23885229
[TBL] [Abstract][Full Text] [Related]
7. Copy number variants and rasopathies: germline KRAS duplication in a patient with syndrome including pigmentation abnormalities.
Gilbert-Dussardier B; Briand-Suleau A; Laurendeau I; Bilan F; Cavé H; Verloes A; Vidaud M; Vidaud D; Pasmant E
Orphanet J Rare Dis; 2016 Jul; 11(1):101. PubMed ID: 27450488
[TBL] [Abstract][Full Text] [Related]
8. Diagnosis of Noonan syndrome and related disorders using target next generation sequencing.
Lepri FR; Scavelli R; Digilio MC; Gnazzo M; Grotta S; Dentici ML; Pisaneschi E; Sirleto P; Capolino R; Baban A; Russo S; Franchin T; Angioni A; Dallapiccola B
BMC Med Genet; 2014 Jan; 15():14. PubMed ID: 24451042
[TBL] [Abstract][Full Text] [Related]
9. Multiple café au lait spots in familial patients with MAP2K2 mutation.
Takenouchi T; Shimizu A; Torii C; Kosaki R; Takahashi T; Saya H; Kosaki K
Am J Med Genet A; 2014 Feb; 164A(2):392-6. PubMed ID: 24311457
[TBL] [Abstract][Full Text] [Related]
10. Genotype and phenotype spectrum of NRAS germline variants.
Altmüller F; Lissewski C; Bertola D; Flex E; Stark Z; Spranger S; Baynam G; Buscarilli M; Dyack S; Gillis J; Yntema HG; Pantaleoni F; van Loon RL; MacKay S; Mina K; Schanze I; Tan TY; Walsh M; White SM; Niewisch MR; García-Miñaúr S; Plaza D; Ahmadian MR; Cavé H; Tartaglia M; Zenker M
Eur J Hum Genet; 2017 Jun; 25(7):823-831. PubMed ID: 28594414
[TBL] [Abstract][Full Text] [Related]
11. Co-occurrence of hypertrophic cardiomyopathy and myeloproliferative disorder in a neonate with Noonan syndrome carrying Thr73Ile mutation in PTPN11.
Yagasaki H; Nakane T; Hasebe Y; Watanabe A; Kise H; Toda T; Koizumi K; Hoshiai M; Sugita K
Am J Med Genet A; 2015 Dec; 167A(12):3144-7. PubMed ID: 26286251
[TBL] [Abstract][Full Text] [Related]
12. Mutation analysis of the genes involved in the Ras-mitogen-activated protein kinase (MAPK) pathway in Korean patients with Noonan syndrome.
Lee ST; Ki CS; Lee HJ
Clin Genet; 2007 Aug; 72(2):150-5. PubMed ID: 17661820
[TBL] [Abstract][Full Text] [Related]
13. Noonan Syndrome in South Africa: Clinical and Molecular Profiles.
Tekendo-Ngongang C; Agenbag G; Bope CD; Esterhuizen AI; Wonkam A
Front Genet; 2019; 10():333. PubMed ID: 31057598
[TBL] [Abstract][Full Text] [Related]
14. Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome.
Thiel C; Wilken M; Zenker M; Sticht H; Fahsold R; Gusek-Schneider GC; Rauch A
Am J Med Genet A; 2009 Jun; 149A(6):1263-7. PubMed ID: 19449407
[TBL] [Abstract][Full Text] [Related]
15. Noonan syndrome with café-au-lait spots and multiple lentigines syndrome are not linked to the neurofibromatosis type 1 locus.
Ahlbom BE; Dahl N; Zetterqvist P; Annerén G
Clin Genet; 1995 Aug; 48(2):85-9. PubMed ID: 7586657
[TBL] [Abstract][Full Text] [Related]
16. Two cases of Noonan syndrome with severe respiratory and gastroenteral involvement and the SOS1 mutation F623I.
Fabretto A; Kutsche K; Harmsen MB; Demarini S; Gasparini P; Fertz MC; Zenker M
Eur J Med Genet; 2010; 53(5):322-4. PubMed ID: 20673819
[TBL] [Abstract][Full Text] [Related]
17. Juvenile myelomonocytic leukemia-associated variants are associated with neo-natal lethal Noonan syndrome.
Mason-Suares H; Toledo D; Gekas J; Lafferty KA; Meeks N; Pacheco MC; Sharpe D; Mullen TE; Lebo MS
Eur J Hum Genet; 2017 Apr; 25(4):509-511. PubMed ID: 28098151
[TBL] [Abstract][Full Text] [Related]
18. Investigation of gene dosage imbalances in patients with Noonan syndrome using multiplex ligation-dependent probe amplification analysis.
Nyström AM; Ekvall S; Thuresson AC; Denayer E; Legius E; Kamali-Moghaddam M; Westermark B; Annerén G; Bondeson ML
Eur J Med Genet; 2010; 53(3):117-21. PubMed ID: 20302979
[TBL] [Abstract][Full Text] [Related]
19. [Cardiofaciocutaneous syndrome, a Noonan syndrome related disorder: clinical and molecular findings in 11 patients].
Carcavilla A; García-Miñaúr S; Pérez-Aytés A; Vendrell T; Pinto I; Guillén-Navarro E; González-Meneses A; Aoki Y; Grinberg D; Ezquieta B
Med Clin (Barc); 2015 Jan; 144(2):67-72. PubMed ID: 25194980
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
