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Items: 1 to 20 of 102

1.

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
2.

Leopard syndrome.

Sarkozy A, Digilio MC, Dallapiccola B.

Orphanet J Rare Dis. 2008 May 27;3:13. doi: 10.1186/1750-1172-3-13. Review.

3.

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. doi: 10.1007/s00403-015-1597-4. Epub 2015 Sep 16.

PMID:
26377839
4.

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 1;140(7):740-6.

PMID:
16523510
5.

LEOPARD syndrome with recurrent PTPN11 mutation Y279C and different cutaneous manifestations: two case reports and a review of the literature.

Kalev I, Muru K, Teek R, Zordania R, Reimand T, Köbas K, Ounap K.

Eur J Pediatr. 2010 Apr;169(4):469-73. doi: 10.1007/s00431-009-1058-1. Epub 2009 Sep 20. Review.

PMID:
19768645
6.

Leopard syndrome.

Porciello R, Divona L, Strano S, Carbone A, Calvieri C, Giustini S.

Dermatol Online J. 2008 Mar 15;14(3):7.

PMID:
18627709
7.

LEOPARD syndrome without hearing loss or pulmonary stenosis: a report of 2 cases.

Ramos-Geldres TT, Dávila-Seijo P, Duat-Rodríguez A, Noguera-Morel L, Ezquieta-Zubicaray B, Rosón-López E, Hernández-Martín A, Torrelo-Fernández A.

Actas Dermosifiliogr. 2015 May;106(4):e19-22. doi: 10.1016/j.ad.2014.11.004. Epub 2014 Dec 24. English, Spanish.

PMID:
25544017
8.

Identification of a PTPN11 hot spot mutation in a child with atypical LEOPARD syndrome.

Zhang J, Shen J, Cheng R, Ni C, Liang J, Li M, Yao Z.

Mol Med Rep. 2016 Sep;14(3):2639-43. doi: 10.3892/mmr.2016.5547. Epub 2016 Jul 27. Review.

PMID:
27484170
9.

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. Epub 2006 May 30.

PMID:
16733669
10.

Familial cases of atypical clinical features genetically diagnosed as LEOPARD syndrome (multiple lentigines syndrome).

Kato H, Yoshida R, Tsukamoto K, Suga H, Eto H, Higashino T, Araki J, Ogata T, Yoshimura K.

Int J Dermatol. 2010 Oct;49(10):1146-51. doi: 10.1111/j.1365-4632.2010.04559.x.

PMID:
20883402
11.

Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11.

Kalidas K, Shaw AC, Crosby AH, Newbury-Ecob R, Greenhalgh L, Temple IK, Law C, Patel A, Patton MA, Jeffery S.

J Hum Genet. 2005;50(1):21-5. Epub 2004 Dec 10.

PMID:
15690106
12.

Phenotype-genotype correlation in a patient with co-occurrence of Marfan and LEOPARD syndromes.

Tang S, Hoshida H, Kamisago M, Yagi H, Momma K, Matsuoka R.

Am J Med Genet A. 2009 Oct;149A(10):2216-9. doi: 10.1002/ajmg.a.32735.

PMID:
19725129
13.

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. doi: 10.1016/S0929-6646(09)60408-3.

14.

LEOPARD syndrome-associated SHP2 mutation confers leanness and protection from diet-induced obesity.

Tajan M, Batut A, Cadoudal T, Deleruyelle S, Le Gonidec S, Saint Laurent C, Vomscheid M, Wanecq E, Tréguer K, De Rocca Serra-Nédélec A, Vinel C, Marques MA, Pozzo J, Kunduzova O, Salles JP, Tauber M, Raynal P, Cavé H, Edouard T, Valet P, Yart A.

Proc Natl Acad Sci U S A. 2014 Oct 21;111(42):E4494-503. doi: 10.1073/pnas.1406107111. Epub 2014 Oct 6.

15.

[PTPN11 gene mutation in LEOPARD syndrome].

Paradisi M, Pedicelli C, Ciasulli A, Pinto F, Conti E, Sarkozy A, Angelo C.

Minerva Pediatr. 2005 Aug;57(4):189-93. Italian.

PMID:
16172598
16.

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. doi: 10.1172/JCI44972. Epub 2011 Feb 21.

17.

Pathogenesis of multiple lentigines in LEOPARD syndrome with PTPN11 gene mutation.

Motegi S, Yokoyama Y, Ogino S, Yamada K, Uchiyama A, Perera B, Takeuchi Y, Ohnishi H, Ishikawa O.

Acta Derm Venereol. 2015 Nov;95(8):978-84. doi: 10.2340/00015555-2123.

18.

Coronary artery dilatation in LEOPARD syndrome. A child case and literature review.

Iwasaki Y, Horigome H, Takahashi-Igari M, Kato Y, Razzaque MA, Matsuoka R.

Congenit Heart Dis. 2009 Jan-Feb;4(1):38-41. doi: 10.1111/j.1747-0803.2008.00243.x. Review.

PMID:
19207402
19.

[LEOPARD syndrome].

Hansen LK, Risby K, Bygum A, Gerdes AM.

Ugeskr Laeger. 2009 Jan 19;171(4):247. Danish.

PMID:
19174044
20.

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.

PMID:
14991917

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