145 related articles for article (PubMed ID: 35475426)
1. Cardiac features of Noonan syndrome in Japanese patients.
Ichikawa Y; Kuroda H; Ikegawa T; Kawai S; Ono S; Kim KS; Yanagi S; Kurosawa K; Aoki Y; Ueda H
Cardiol Young; 2023 Apr; 33(4):564-569. PubMed ID: 35475426
[TBL] [Abstract][Full Text] [Related]
2. [Gene mutation and clinical phenotype analysis of patients with Noonan syndrome and hypertrophic cardiomyopathy].
Liu XH; Ding WW; Han L; Liu XR; Xiao YY; Yang J; Mo Y
Zhonghua Er Ke Za Zhi; 2017 Oct; 55(10):780-784. PubMed ID: 29050118
[No Abstract] [Full Text] [Related]
3. Genotype-phenotype correlation analysis in Japanese patients with Noonan syndrome.
Shoji Y; Ida S; Niihori T; Aoki Y; Okamoto N; Etani Y; Kawai M
Endocr J; 2019 Nov; 66(11):983-994. PubMed ID: 31292302
[TBL] [Abstract][Full Text] [Related]
4. Cardiovascular Abnormalities and Gene Mutations in Children With Noonan Syndrome.
Sun L; Xie YM; Wang SS; Zhang ZW
Front Genet; 2022; 13():915129. PubMed ID: 35770001
[No 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. 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]
7. Coronary artery ectasia in Noonan syndrome: Report of an individual with SOS1 mutation and literature review.
Calcagni G; Baban A; De Luca E; Leonardi B; Pongiglione G; Digilio MC
Am J Med Genet A; 2016 Mar; 170(3):665-9. PubMed ID: 26686981
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Alterations in RAS-MAPK genes in 200 Spanish patients with Noonan and other neuro-cardio-facio-cutaneous syndromes. Genotype and cardiopathy.
Ezquieta B; Santomé JL; Carcavilla A; Guillén-Navarro E; Pérez-Aytés A; Sánchez del Pozo J; García-Miñaur S; Castillo E; Alonso M; Vendrell T; Santana A; Maroto E; Galbis L
Rev Esp Cardiol (Engl Ed); 2012 May; 65(5):447-55. PubMed ID: 22465605
[TBL] [Abstract][Full Text] [Related]
10. Succesful MEK-inhibition of severe hypertrophic cardiomyopathy in RIT1-related Noonan Syndrome.
Leegaard A; Gregersen PA; Nielsen TØ; Bjerre JV; Handrup MM
Eur J Med Genet; 2022 Nov; 65(11):104630. PubMed ID: 36184070
[TBL] [Abstract][Full Text] [Related]
11. PTPN11 mutation associated with aortic dilation and hypertrophic cardiomyopathy in a pediatric patient with Noonan syndrome.
Jefferies JL; Belmont JW; Pignatelli R; Towbin JA; Craigen WJ
Pediatr Cardiol; 2010 Jan; 31(1):114-6. PubMed ID: 19795160
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. Cardiovascular disease in Noonan syndrome.
Pierpont ME; Digilio MC
Curr Opin Pediatr; 2018 Oct; 30(5):601-608. PubMed ID: 30024444
[TBL] [Abstract][Full Text] [Related]
15. LEOPARD syndrome: a variant of Noonan syndrome strongly associated with hypertrophic cardiomyopathy.
Carcavilla A; Santomé JL; Pinto I; Sánchez-Pozo J; Guillén-Navarro E; Martín-Frías M; Lapunzina P; Ezquieta B
Rev Esp Cardiol (Engl Ed); 2013 May; 66(5):350-6. PubMed ID: 24775816
[TBL] [Abstract][Full Text] [Related]
16. Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation.
Kouz K; Lissewski C; Spranger S; Mitter D; Riess A; Lopez-Gonzalez V; Lüttgen S; Aydin H; von Deimling F; Evers C; Hahn A; Hempel M; Issa U; Kahlert AK; Lieb A; Villavicencio-Lorini P; Ballesta-Martinez MJ; Nampoothiri S; Ovens-Raeder A; Puchmajerová A; Satanovskij R; Seidel H; Unkelbach S; Zabel B; Kutsche K; Zenker M
Genet Med; 2016 Dec; 18(12):1226-1234. PubMed ID: 27101134
[TBL] [Abstract][Full Text] [Related]
17. Cardiac Manifestations of Noonan Syndrome.
Karnik R; Geiger M
Pediatr Endocrinol Rev; 2019 May; 16(Suppl 2):471-476. PubMed ID: 31115199
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. [RIT1: a novel gene associated with Noonan syndrome].
Arroyo-Carrera I; Solo de Zaldivar-Tristancho M; Martin-Fernandez R; Vera-Torres M; Gonzalez de Buitrago-Amigo JF; Botet-Rodriguez J
Rev Neurol; 2016 Oct; 63(8):358-362. PubMed ID: 27699752
[TBL] [Abstract][Full Text] [Related]
20. SOS1 mutations in Noonan syndrome: Cardiomyopathies and not only congenital heart defects! Report of six patients including two novel variants and literature review.
Baban A; Olivini N; Lepri FR; Calì F; Mucciolo M; Digilio MC; Calcagni G; di Mambro C; Dallapiccola B; Adorisio R; Novelli A; Drago F
Am J Med Genet A; 2019 Oct; 179(10):2083-2090. PubMed ID: 31368652
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
