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Items: 1 to 20 of 122

1.

Medulloblastoma in a patient with the PTPN11 p.Thr468Met mutation.

Rankin J, Short J, Turnpenny P, Castle B, Hanemann CO.

Am J Med Genet A. 2013 Aug;161A(8):2027-9. doi: 10.1002/ajmg.a.36005.

PMID:
23813970
2.

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.

3.

Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentigines.

Conboy E, Dhamija R, Wang M, Xie J, Dyck PJ, Bridges AG, Spinner RJ, Clayton AC, Watson RE, Messiaen L, Babovic-Vuksanovic D.

J Med Genet. 2016 Feb;53(2):123-6. doi: 10.1136/jmedgenet-2015-103177.

PMID:
26337637
4.

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.

5.

Extensive abdominal lipomatosis in a patient with Noonan/LEOPARD syndrome (Noonan syndrome-Multiple Lentigines).

Piard J, Verloes A, Cavé H, Peuchmaur M, Bennaceur S, Leheup B.

Am J Med Genet A. 2012 Jun;158A(6):1406-10. doi: 10.1002/ajmg.a.35329.

PMID:
22528600
6.

[Arnold-Chiari malformation in Noonan syndrome and other syndromes of the RAS/MAPK pathway].

Ejarque I, Millán-Salvador JM, Oltra S, Pesudo-Martínez JV, Beneyto M, Pérez-Aytés A.

Rev Neurol. 2015 May 1;60(9):408-12. Review. Spanish.

PMID:
25912702
7.

[LEOPARD syndrome].

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

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

PMID:
19174044
8.

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
9.

Multiple granular cell tumors are an associated feature of LEOPARD syndrome caused by mutation in PTPN11.

Schrader KA, Nelson TN, De Luca A, Huntsman DG, McGillivray BC.

Clin Genet. 2009 Feb;75(2):185-9. doi: 10.1111/j.1399-0004.2008.01100.x.

PMID:
19054014
10.

Malignancy in Noonan syndrome and related disorders.

Smpokou P, Zand DJ, Rosenbaum KN, Summar ML.

Clin Genet. 2015 Dec;88(6):516-22. doi: 10.1111/cge.12568. Review.

PMID:
25683281
11.

LEOPARD syndrome (PTPN11, T468M) in three boys fulfilling neurofibromatosis type 1 clinical criteria.

Carcavilla A, Pinto I, Muñoz-Pacheco R, Barrio R, Martin-Frías M, Ezquieta B.

Eur J Pediatr. 2011 Aug;170(8):1069-74. doi: 10.1007/s00431-011-1418-5.

PMID:
21365175
12.

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
13.

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
14.

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
15.

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.

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.

A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype.

Edwards JJ, Martinelli S, Pannone L, Lo IF, Shi L, Edelmann L, Tartaglia M, Luk HM, Gelb BD.

Am J Med Genet A. 2014 Sep;164A(9):2351-5. doi: 10.1002/ajmg.a.36620.

18.

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. doi: 10.1097/MPH.0b013e31817588fb.

PMID:
18799937
19.

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.

PMID:
15690106
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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