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Items: 1 to 20 of 240

1.

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.

2.

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
3.

[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
4.

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
5.

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.

6.

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.

PMID:
14961557
7.

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
8.

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.

9.

Activating mutations of the noonan syndrome-associated SHP2/PTPN11 gene in human solid tumors and adult acute myelogenous leukemia.

Bentires-Alj M, Paez JG, David FS, Keilhack H, Halmos B, Naoki K, Maris JM, Richardson A, Bardelli A, Sugarbaker DJ, Richards WG, Du J, Girard L, Minna JD, Loh ML, Fisher DE, Velculescu VE, Vogelstein B, Meyerson M, Sellers WR, Neel BG.

Cancer Res. 2004 Dec 15;64(24):8816-20.

10.

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
11.

PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13.

Maheshwari M, Belmont J, Fernbach S, Ho T, Molinari L, Yakub I, Yu F, Combes A, Towbin J, Craigen WJ, Gibbs R.

Hum Mutat. 2002 Oct;20(4):298-304.

PMID:
12325025
12.

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.

13.

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.

14.

Reduced phosphatase activity of SHP-2 in LEOPARD syndrome: consequences for PI3K binding on Gab1.

Hanna N, Montagner A, Lee WH, Miteva M, Vidal M, Vidaud M, Parfait B, Raynal P.

FEBS Lett. 2006 May 1;580(10):2477-82. Epub 2006 Apr 12.

15.

Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.

Tartaglia M, Mehler EL, Goldberg R, Zampino G, Brunner HG, Kremer H, van der Burgt I, Crosby AH, Ion A, Jeffery S, Kalidas K, Patton MA, Kucherlapati RS, Gelb BD.

Nat Genet. 2001 Dec;29(4):465-8. Erratum in: Nat Genet 2002 Jan;30(1):123. Nat Genet 2001 Dec;29(4):491.

PMID:
11704759
16.

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
17.

Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypes.

Keilhack H, David FS, McGregor M, Cantley LC, Neel BG.

J Biol Chem. 2005 Sep 2;280(35):30984-93. Epub 2005 Jun 29.

18.

How do Shp2 mutations that oppositely influence its biochemical activity result in syndromes with overlapping symptoms?

Edouard T, Montagner A, Dance M, Conte F, Yart A, Parfait B, Tauber M, Salles JP, Raynal P.

Cell Mol Life Sci. 2007 Jul;64(13):1585-90. Review.

PMID:
17453145
19.

[Noonan syndrome and Leopard syndrome linked to mutation of the gene PTPN11].

Dereure O.

Ann Dermatol Venereol. 2005 Apr;132(4):400. French. No abstract available.

PMID:
15886577
20.

[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

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