155 related articles for article (PubMed ID: 21910226)
1. 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]
2. 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]
3. Leopard syndrome.
Sarkozy A; Digilio MC; Dallapiccola B
Orphanet J Rare Dis; 2008 May; 3():13. PubMed ID: 18505544
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. PTPN11 gene mutations: linking the Gln510Glu mutation to the "LEOPARD syndrome phenotype".
Digilio MC; Sarkozy A; Pacileo G; Limongelli G; Marino B; Dallapiccola B
Eur J Pediatr; 2006 Nov; 165(11):803-5. PubMed ID: 16733669
[TBL] [Abstract][Full Text] [Related]
6. LEOPARD syndrome: clinical diagnosis in the first year of life.
Digilio MC; Sarkozy A; de Zorzi A; Pacileo G; Limongelli G; Mingarelli R; Calabrò R; Marino B; Dallapiccola B
Am J Med Genet A; 2006 Apr; 140(7):740-6. PubMed ID: 16523510
[TBL] [Abstract][Full Text] [Related]
7. Tyrosyl phosphorylation of PZR promotes hypertrophic cardiomyopathy in PTPN11-associated Noonan syndrome with multiple lentigines.
Yi JS; Perla S; Enyenihi L; Bennett AM
JCI Insight; 2020 Aug; 5(15):. PubMed ID: 32584792
[TBL] [Abstract][Full Text] [Related]
8. Leopard syndrome and hypertrophic cardiomyopathy: an association related to sudden death.
Antunes Mde O; Arteaga E; Matsumoto AY; Ianni BM
Arq Bras Cardiol; 2009 Jun; 92(6):e44-6, e71-3. PubMed ID: 19629299
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. PTPN11 mutations in LEOPARD syndrome: report of four cases in Taiwan.
Lin IS; Wang JN; Chao SC; Wu JM; Lin SJ
J Formos Med Assoc; 2009 Oct; 108(10):803-7. PubMed ID: 19864201
[TBL] [Abstract][Full Text] [Related]
11. Structural insights into Noonan/LEOPARD syndrome-related mutants of protein-tyrosine phosphatase SHP2 (PTPN11).
Qiu W; Wang X; Romanov V; Hutchinson A; Lin A; Ruzanov M; Battaile KP; Pai EF; Neel BG; Chirgadze NY
BMC Struct Biol; 2014 Mar; 14():10. PubMed ID: 24628801
[TBL] [Abstract][Full Text] [Related]
12. Phenotypical diversity of patients with LEOPARD syndrome carrying the worldwide recurrent p.Tyr279Cys PTPN11 mutation.
Nemes E; Farkas K; Kocsis-Deák B; Drubi A; Sulák A; Tripolszki K; Dósa P; Ferenc L; Nagy N; Széll M
Arch Dermatol Res; 2015 Dec; 307(10):891-5. PubMed ID: 26377839
[TBL] [Abstract][Full Text] [Related]
13. Multiple granular cell tumors are an associated feature of LEOPARD syndrome caused by mutation in PTPN11.
Schrader KA; Nelson TN; De Luca A; Huntsman DG; McGillivray BC
Clin Genet; 2009 Feb; 75(2):185-9. PubMed ID: 19054014
[TBL] [Abstract][Full Text] [Related]
14. PTPN11 gene mutation and severe neonatal hypertrophic cardiomyopathy: what is the link?
Faienza MF; Giordani L; Ferraris M; Bona G; Cavallo L
Pediatr Cardiol; 2009 Oct; 30(7):1012-5. PubMed ID: 19582499
[TBL] [Abstract][Full Text] [Related]
15. LEOPARD-type SHP2 mutant Gln510Glu attenuates cardiomyocyte differentiation and promotes cardiac hypertrophy via dysregulation of Akt/GSK-3β/β-catenin signaling.
Ishida H; Kogaki S; Narita J; Ichimori H; Nawa N; Okada Y; Takahashi K; Ozono K
Am J Physiol Heart Circ Physiol; 2011 Oct; 301(4):H1531-9. PubMed ID: 21803945
[TBL] [Abstract][Full Text] [Related]
16. A novel PTPN11 mutation in LEOPARD syndrome.
Conti E; Dottorini T; Sarkozy A; Tiller GE; Esposito G; Pizzuti A; Dallapiccola B
Hum Mutat; 2003 Jun; 21(6):654. PubMed ID: 14961557
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. Rapidly progressive hypertrophic cardiomyopathy in an infant with Noonan syndrome with multiple lentigines: palliative treatment with a rapamycin analog.
Hahn A; Lauriol J; Thul J; Behnke-Hall K; Logeswaran T; Schänzer A; Böğürcü N; Garvalov BK; Zenker M; Gelb BD; von Gerlach S; Kandolf R; Kontaridis MI; Schranz D
Am J Med Genet A; 2015 Apr; 167A(4):744-51. PubMed ID: 25708222
[TBL] [Abstract][Full Text] [Related]
20. PTPN11 mutations and genotype-phenotype correlations in Noonan and LEOPARD syndromes.
Ogata T; Yoshida R
Pediatr Endocrinol Rev; 2005 Jun; 2(4):669-74. PubMed ID: 16208280
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
