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Items: 1 to 20 of 33

1.

Determination of the catalytic activity of LEOPARD syndrome-associated SHP2 mutants toward parafibromin, a bona fide SHP2 substrate involved in Wnt signaling.

Noda S, Takahashi A, Hayashi T, Tanuma S, Hatakeyama M.

Biochem Biophys Res Commun. 2016 Jan 22;469(4):1133-9. doi: 10.1016/j.bbrc.2015.12.117. Epub 2015 Dec 29.

PMID:
26742426
2.

LEOPARD Syndrome with Patent Ductus Arteriosus and Hypertrophic Cardiomyopathy.

Jayaprasad N, Madhavan S.

J Assoc Physicians India. 2015 May;63(5):76-7.

PMID:
26591153
3.

PTPN11 mutation manifesting as LEOPARD syndrome associated with hypertrophic plexi and neuropathic pain.

Spatola M, Wider C, Kuntzer T, Croquelois A.

BMC Neurol. 2015 Apr 16;15:55. doi: 10.1186/s12883-015-0310-8.

4.

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. doi: 10.1002/ajmg.a.36982. Epub 2015 Feb 23.

5.

A novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple lentigines.

Nishi E, Mizuno S, Nanjo Y, Niihori T, Fukushima Y, Matsubara Y, Aoki Y, Kosho T.

Am J Med Genet A. 2015 Feb;167A(2):407-11. doi: 10.1002/ajmg.a.36842. Epub 2014 Nov 25.

PMID:
25423878
6.

Structure, function, and pathogenesis of SHP2 in developmental disorders and tumorigenesis.

Huang WQ, Lin Q, Zhuang X, Cai LL, Ruan RS, Lu ZX, Tzeng CM.

Curr Cancer Drug Targets. 2014;14(6):567-88. Review.

PMID:
25039348
7.

Molecular basis of gain-of-function LEOPARD syndrome-associated SHP2 mutations.

Yu ZH, Zhang RY, Walls CD, Chen L, Zhang S, Wu L, Liu S, Zhang ZY.

Biochemistry. 2014 Jul 1;53(25):4136-51. doi: 10.1021/bi5002695. Epub 2014 Jun 17.

8.

PZR coordinates Shp2 Noonan and LEOPARD syndrome signaling in zebrafish and mice.

Paardekooper Overman J, Yi JS, Bonetti M, Soulsby M, Preisinger C, Stokes MP, Hui L, Silva JC, Overvoorde J, Giansanti P, Heck AJ, Kontaridis MI, den Hertog J, Bennett AM.

Mol Cell Biol. 2014 Aug;34(15):2874-89. doi: 10.1128/MCB.00135-14. Epub 2014 May 27.

9.

Leopard syndrome caused by heterozygous missense mutation of Tyr 279 Cys in the PTPN11 gene in a sporadic case of Chinese Han.

Wang Y, Chen C, Wang DW.

Int J Cardiol. 2014 Jul 1;174(3):e101-4. doi: 10.1016/j.ijcard.2014.04.161. Epub 2014 Apr 22. No abstract available.

PMID:
24820750
10.

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. doi: 10.1016/j.rec.2012.09.015. Epub 2013 Jan 11.

PMID:
24775816
11.

RASopathies: from Noonan to LEOPARD syndrome.

Martínez-Quintana E, Rodríguez-González F.

Rev Esp Cardiol (Engl Ed). 2013 Sep;66(9):756-7. doi: 10.1016/j.rec.2013.05.005. Epub 2013 Jul 5. No abstract available.

PMID:
24773692
12.

LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies.

Santoro C, Pacileo G, Limongelli G, Scianguetta S, Giugliano T, Piluso G, Ragione FD, Cirillo M, Mirone G, Perrotta S.

BMC Med Genet. 2014 Apr 26;15:44. doi: 10.1186/1471-2350-15-44.

13.

Insights into desmosome biology from inherited human skin disease and cardiocutaneous syndromes.

Nitoiu D, Etheridge SL, Kelsell DP.

Cell Commun Adhes. 2014 Jun;21(3):129-40. doi: 10.3109/15419061.2014.908854. Epub 2014 Apr 16. Review.

PMID:
24738885
14.

Noonan and LEOPARD syndrome Shp2 variants induce heart displacement defects in zebrafish.

Bonetti M, Paardekooper Overman J, Tessadori F, Noël E, Bakkers J, den Hertog J.

Development. 2014 May;141(9):1961-70. doi: 10.1242/dev.106310. Epub 2014 Apr 9.

15.

LEOPARD syndrome: maxillofacial care.

Aboh IV, Chisci G, Gennaro P, Gabriele G, Cascino F, Ginori A, Giovannetti F, Iannetti G.

J Craniofac Surg. 2014 May;25(3):1094-5. doi: 10.1097/SCS.0000000000000616.

PMID:
24705231
16.

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;14:10. doi: 10.1186/1472-6807-14-10.

17.

Anesthesia and LEOPARD syndrome: a review of forty-nine anesthetic exposures.

Yeoh TY, Wittwer ED, Weingarten TN, Sprung J.

J Cardiothorac Vasc Anesth. 2014 Oct;28(5):1243-50. doi: 10.1053/j.jvca.2013.09.015. Epub 2014 Jan 23.

PMID:
24461361
18.

When rare illuminates common: how cardiocutaneous syndromes transformed our perspective on arrhythmogenic cardiomyopathy.

Sen-Chowdhry S, McKenna WJ.

Cell Commun Adhes. 2014 Feb;21(1):3-11. doi: 10.3109/15419061.2013.876415. Review.

PMID:
24460197
19.

Leopard syndrome: a report of five cases from one family in two generations.

Begić F, Tahirović H, Kardašević M, Kalev I, Muru K.

Eur J Pediatr. 2014 Jun;173(6):819-22. doi: 10.1007/s00431-013-2243-9. Epub 2014 Jan 9.

PMID:
24401936
20.

LEOPARD syndrome with Wolff-Parkinson-White syndrome on electrocardiography.

Ghosh S, Chaudhuri S, Jain VK.

Indian J Dermatol Venereol Leprol. 2013 Nov-Dec;79(6):821-4. doi: 10.4103/0378-6323.120742. No abstract available.

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