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Leopard syndrome.

Sarkozy A, Digilio MC, Dallapiccola B.

Orphanet J Rare Dis. 2008 May 27;3:13. Review.PMID: 18505544 [PubMed - indexed for MEDLINE]Related articlesFree article

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 [PubMed - indexed for MEDLINE]Related articles

Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene.

Digilio MC, Conti E, Sarkozy A, Mingarelli R, Dottorini T, Marino B, Pizzuti A, Dallapiccola B.

Am J Hum Genet. 2002 Aug;71(2):389-94. Epub 2002 Jun 7.PMID: 12058348 [PubMed - indexed for MEDLINE]Related articlesFree article

[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 [PubMed - indexed for MEDLINE]Related articles

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 [PubMed - indexed for MEDLINE]Related articles

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.PMID: 19864201 [PubMed - indexed for MEDLINE]Related articlesFree article

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 [PubMed - indexed for MEDLINE]Related articles

Noonan syndrome.

van der Burgt I.

Orphanet J Rare Dis. 2007 Jan 14;2:4. Review.PMID: 17222357 [PubMed - indexed for MEDLINE]Related articlesFree article

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 [PubMed - indexed for MEDLINE]Related articles

PTPN11 mutations in LEOPARD syndrome.

Legius E, Schrander-Stumpel C, Schollen E, Pulles-Heintzberger C, Gewillig M, Fryns JP.

J Med Genet. 2002 Aug;39(8):571-4.PMID: 12161596 [PubMed - indexed for MEDLINE]Related articlesFree article

Common acute lymphoblastic leukemia in a girl with genetically confirmed LEOPARD syndrome.

Laux D, Kratz C, Sauerbrey A.

J Pediatr Hematol Oncol. 2008 Aug;30(8):602-4.PMID: 18799937 [PubMed - indexed for MEDLINE]Related articles

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 [PubMed - indexed for MEDLINE]Related articles

PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects.

Kontaridis MI, Swanson KD, David FS, Barford D, Neel BG.

J Biol Chem. 2006 Mar 10;281(10):6785-92. Epub 2005 Dec 23.PMID: 16377799 [PubMed - indexed for MEDLINE]Related articlesFree article

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;4(1):38-41. Review.PMID: 19207402 [PubMed - indexed for MEDLINE]Related articles

[Molecular genetic mutation analysis of the PTPN11 gene in the multiple lentigines (LEOPARD) syndrome]

Froster UG, Glander HJ, Heinritz W.

Hautarzt. 2003 Dec;54(12):1190-2. German. PMID: 14634749 [PubMed - indexed for MEDLINE]Related articles

Schizencephaly in LEOPARD syndrome.

Liang JS, Chien YH, Hwu WL, Yeh SJ, Peng SF.

Pediatr Neurol. 2009 Jul;41(1):71-3.PMID: 19520282 [PubMed - indexed for MEDLINE]Related articles

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. Epub 2009 Sep 20.PMID: 19768645 [PubMed - in process]Related articles

PTPN11 mutations and genotype-phenotype correlations in Noonan and LEOPARD syndromes.

Ogata T, Yoshida R.

Pediatr Endocrinol Rev. 2005 Jun;2(4):669-74. Review.PMID: 16208280 [PubMed - indexed for MEDLINE]Related articles

A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome.

Sarkozy A, Obregon MG, Conti E, Esposito G, Mingarelli R, Pizzuti A, Dallapiccola B.

Eur J Hum Genet. 2004 Dec;12(12):1069-72.PMID: 15470362 [PubMed - indexed for MEDLINE]Related articlesFree article

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. Epub 2009 Jul 7.PMID: 19582499 [PubMed - indexed for MEDLINE]Related articles