401 related articles for article (PubMed ID: 30732632)
1. Clinical and mutation profile of pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: results from a Chinese cohort.
Chen H; Li X; Liu X; Wang J; Zhang Z; Wu J; Huang M; Guo Y; Li F; Wang X; Fu L
Orphanet J Rare Dis; 2019 Feb; 14(1):29. PubMed ID: 30732632
[TBL] [Abstract][Full Text] [Related]
2. Prevalence of pathogenic and likely pathogenic variants in the RASopathy genes in patients who have had panel testing for cardiomyopathy.
Aljeaid D; Sanchez AI; Wakefield E; Chadwell SE; Moore N; Prada CE; Zhang W
Am J Med Genet A; 2019 Apr; 179(4):608-614. PubMed ID: 30762279
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. NGS testing for cardiomyopathy: Utility of adding RASopathy-associated genes.
Ceyhan-Birsoy O; Miatkowski MM; Hynes E; Funke BH; Mason-Suares H
Hum Mutat; 2018 Jul; 39(7):954-958. PubMed ID: 29696744
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results.
Calcagni G; Limongelli G; D'Ambrosio A; Gesualdo F; Digilio MC; Baban A; Albanese SB; Versacci P; De Luca E; Ferrero GB; Baldassarre G; Agnoletti G; Banaudi E; Marek J; Kaski JP; Tuo G; Russo MG; Pacileo G; Milanesi O; Messina D; Marasini M; Cairello F; Formigari R; Brighenti M; Dallapiccola B; Tartaglia M; Marino B
Int J Cardiol; 2017 Oct; 245():92-98. PubMed ID: 28768581
[TBL] [Abstract][Full Text] [Related]
7. Pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: the multifaceted consequences of PTPN11 mutations.
Calcagni G; Digilio MC; Marino B; Tartaglia M
Orphanet J Rare Dis; 2019 Jul; 14(1):163. PubMed ID: 31277675
[TBL] [Abstract][Full Text] [Related]
8. Prevalence of sequence variants in the RAS-mitogen activated protein kinase signaling pathway in pre-adolescent children with hypertrophic cardiomyopathy.
Kaski JP; Syrris P; Shaw A; Alapi KZ; Cordeddu V; Esteban MT; Jenkins S; Ashworth M; Hammond P; Tartaglia M; McKenna WJ; Elliott PM
Circ Cardiovasc Genet; 2012 Jun; 5(3):317-26. PubMed ID: 22589294
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1.
Fahrner JA; Frazier A; Bachir S; Walsh MF; Applegate CD; Thompson R; Halushka MK; Murphy AM; Gunay-Aygun M
Am J Med Genet A; 2012 Jun; 158A(6):1414-21. PubMed ID: 22585553
[TBL] [Abstract][Full Text] [Related]
11. Noonan Syndrome Case Report: PTPN11 and Other Potential Genetic Factors Contributing to Lethal Hypertrophic Right Ventricular Cardiomyopathy.
Daoud E; Zwick D
Pediatr Dev Pathol; 2019; 22(4):386-390. PubMed ID: 30665336
[TBL] [Abstract][Full Text] [Related]
12. Cardiac transplantation in children with Noonan syndrome.
McCallen LM; Ameduri RK; Denfield SW; Dodd DA; Everitt MD; Johnson JN; Lee TM; Lin AE; Lohr JL; May LJ; Pierpont ME; Stevenson DA; Chatfield KC
Pediatr Transplant; 2019 Sep; 23(6):e13535. PubMed ID: 31259454
[TBL] [Abstract][Full Text] [Related]
13. Familial aggregation of genetically heterogeneous hypertrophic cardiomyopathy: a boy with LEOPARD syndrome due to PTPN11 mutation and his nonsyndromic father lacking PTPN11 mutations.
Digilio MC; Pacileo G; Sarkozy A; Limongelli G; Conti E; Cerrato F; Marino B; Pizzuti A; Calabrò R; Dallapiccola B
Birth Defects Res A Clin Mol Teratol; 2004 Feb; 70(2):95-8. PubMed ID: 14991917
[TBL] [Abstract][Full Text] [Related]
14. Genotype-cardiac phenotype correlations in a large single-center cohort of patients affected by RASopathies: Clinical implications and literature review.
Leoni C; Blandino R; Delogu AB; De Rosa G; Onesimo R; Verusio V; Marino MV; Lanza GA; Rigante D; Tartaglia M; Zampino G
Am J Med Genet A; 2022 Feb; 188(2):431-445. PubMed ID: 34643321
[TBL] [Abstract][Full Text] [Related]
15. Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.
Aoki Y; Niihori T; Banjo T; Okamoto N; Mizuno S; Kurosawa K; Ogata T; Takada F; Yano M; Ando T; Hoshika T; Barnett C; Ohashi H; Kawame H; Hasegawa T; Okutani T; Nagashima T; Hasegawa S; Funayama R; Nagashima T; Nakayama K; Inoue S; Watanabe Y; Ogura T; Matsubara Y
Am J Hum Genet; 2013 Jul; 93(1):173-80. PubMed ID: 23791108
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy.
Motta M; Sagi-Dain L; Krumbach OHF; Hahn A; Peleg A; German A; Lissewski C; Coppola S; Pantaleoni F; Kocherscheid L; Altmüller F; Schanze D; Logeswaran T; Chahrokh-Zadeh S; Munzig A; Nakhaei-Rad S; Cavé H; Ahmadian MR; Tartaglia M; Zenker M
Hum Mol Genet; 2020 Jul; 29(11):1772-1783. PubMed ID: 31108500
[TBL] [Abstract][Full Text] [Related]
18. Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.
Pandit B; Sarkozy A; Pennacchio LA; Carta C; Oishi K; Martinelli S; Pogna EA; Schackwitz W; Ustaszewska A; Landstrom A; Bos JM; Ommen SR; Esposito G; Lepri F; Faul C; Mundel P; López Siguero JP; Tenconi R; Selicorni A; Rossi C; Mazzanti L; Torrente I; Marino B; Digilio MC; Zampino G; Ackerman MJ; Dallapiccola B; Tartaglia M; Gelb BD
Nat Genet; 2007 Aug; 39(8):1007-12. PubMed ID: 17603483
[TBL] [Abstract][Full Text] [Related]
19. Rapamycin reverses hypertrophic cardiomyopathy in a mouse model of LEOPARD syndrome-associated PTPN11 mutation.
Marin TM; Keith K; Davies B; Conner DA; Guha P; Kalaitzidis D; Wu X; Lauriol J; Wang B; Bauer M; Bronson R; Franchini KG; Neel BG; Kontaridis MI
J Clin Invest; 2011 Mar; 121(3):1026-43. PubMed ID: 21339643
[TBL] [Abstract][Full Text] [Related]
20. Implantable cardioverter defibrillator for progressive hypertrophic cardiomyopathy in a patient with LEOPARD syndrome and a novel PTPN11 mutation Gln510His.
Wakabayashi Y; Yamazaki K; Narumi Y; Fuseya S; Horigome M; Wakui K; Fukushima Y; Matsubara Y; Aoki Y; Kosho T
Am J Med Genet A; 2011 Oct; 155A(10):2529-33. PubMed ID: 21910226
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]