Similar articles for PMID: 12058348

Year	Number of Results
1993	1
1995	1
1997	1
2000	1
2001	1
2002	5
2003	11
2004	14
2005	20
2006	16
2007	9
2008	12
2009	6
2010	8
2011	12
2012	9
2013	7
2014	12
2015	8
2016	5
2017	3
2018	5
2019	6
2020	10
2021	8
2022	5
2023	4
2024	1

1

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. Digilio MC, et al. Am J Hum Genet. 2002 Aug;71(2):389-94. doi: 10.1086/341528. Epub 2002 Jun 7. Am J Hum Genet. 2002. PMID: 12058348 Free PMC article.

2

PTPN11 mutations in LEOPARD syndrome.

Legius E, Schrander-Stumpel C, Schollen E, Pulles-Heintzberger C, Gewillig M, Fryns JP. Legius E, et al. J Med Genet. 2002 Aug;39(8):571-4. doi: 10.1136/jmg.39.8.571. J Med Genet. 2002. PMID: 12161596 Free PMC article.

3

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. Kalidas K, et al. J Hum Genet. 2005;50(1):21-25. doi: 10.1007/s10038-004-0212-x. Epub 2004 Dec 10. J Hum Genet. 2005. PMID: 15690106

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. Digilio MC, et al. Am J Med Genet A. 2006 Apr 1;140(7):740-6. doi: 10.1002/ajmg.a.31156. Am J Med Genet A. 2006. PMID: 16523510

5

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. Sarkozy A, et al. Eur J Hum Genet. 2004 Dec;12(12):1069-72. doi: 10.1038/sj.ejhg.5201290. Eur J Hum Genet. 2004. PMID: 15470362

6

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

Kontaridis MI, Swanson KD, David FS, Barford D, Neel BG. Kontaridis MI, et al. J Biol Chem. 2006 Mar 10;281(10):6785-92. doi: 10.1074/jbc.M513068200. Epub 2005 Dec 23. J Biol Chem. 2006. PMID: 16377799 Free article.

7

PTPN11 gene mutations: linking the Gln510Glu mutation to the "LEOPARD syndrome phenotype".

Digilio MC, Sarkozy A, Pacileo G, Limongelli G, Marino B, Dallapiccola B. Digilio MC, et al. Eur J Pediatr. 2006 Nov;165(11):803-5. doi: 10.1007/s00431-006-0163-7. Epub 2006 May 30. Eur J Pediatr. 2006. PMID: 16733669

8

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

Froster UG, Glander HJ, Heinritz W. Froster UG, et al. Hautarzt. 2003 Dec;54(12):1190-2. doi: 10.1007/s00105-003-0640-0. Hautarzt. 2003. PMID: 14634749 German.

9

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. Qiu W, et al. BMC Struct Biol. 2014 Mar 14;14:10. doi: 10.1186/1472-6807-14-10. BMC Struct Biol. 2014. PMID: 24628801 Free PMC article.

10

Leopard syndrome.

Sarkozy A, Digilio MC, Dallapiccola B. Sarkozy A, et al. Orphanet J Rare Dis. 2008 May 27;3:13. doi: 10.1186/1750-1172-3-13. Orphanet J Rare Dis. 2008. PMID: 18505544 Free PMC article. Review.

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