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Items: 1 to 20 of 121

1.

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.

2.

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. Epub 2011 Mar 2.

PMID:
21365175
3.

Hypertrophic neuropathy in Noonan syndrome with multiple lentigines.

Maridet C, Sole G, Morice-Picard F, Taieb A.

Am J Med Genet A. 2016 Jun;170(6):1570-2. doi: 10.1002/ajmg.a.37601. Epub 2016 Mar 7.

PMID:
26952712
4.

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
5.

PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype.

Bertola DR, Pereira AC, Albano LM, De Oliveira PS, Kim CA, Krieger JE.

Genet Test. 2006 Fall;10(3):186-91.

PMID:
17020470
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.

Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-Noonan syndrome.

Ekvall S, Sjörs K, Jonzon A, Vihinen M, Annerén G, Bondeson ML.

Am J Med Genet A. 2014 Mar;164A(3):579-87. doi: 10.1002/ajmg.a.36313. Epub 2013 Dec 19.

PMID:
24357598
8.

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. Epub 2013 Jun 27.

PMID:
23813970
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.

[LEOPARD syndrome].

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

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

PMID:
19174044
11.

Molecular screening strategies for NF1-like syndromes with café-au-lait macules (Review).

Zhang J, Li M, Yao Z.

Mol Med Rep. 2016 Nov;14(5):4023-4029. doi: 10.3892/mmr.2016.5760. Epub 2016 Sep 22. Review.

12.

LEOPARD syndrome: a variant of Noonan syndrome strongly associated with hypertrophic cardiomyopathy.

Carcavilla A, Santomé JL, Pinto I, Sánchez-Pozo J, Guillén-Navarro E, Martín-Frías M, Lapunzina P, Ezquieta B.

Rev Esp Cardiol (Engl Ed). 2013 May;66(5):350-6. doi: 10.1016/j.rec.2012.09.015. Epub 2013 Jan 11.

PMID:
24775816
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.

Clinical and molecular analysis of RASopathies in a group of Turkish patients.

Şimşek-Kiper PÖ, Alanay Y, Gülhan B, Lissewski C, Türkyilmaz D, Alehan D, Cetin M, Utine GE, Zenker M, Boduroğlu K.

Clin Genet. 2013 Feb;83(2):181-6. doi: 10.1111/j.1399-0004.2012.01875.x. Epub 2012 Apr 9.

PMID:
22420426
15.

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. Epub 2015 Sep 2.

PMID:
26337637
16.

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. Epub 2012 Apr 23.

PMID:
22528600
17.

Multiple café au lait spots in familial patients with MAP2K2 mutation.

Takenouchi T, Shimizu A, Torii C, Kosaki R, Takahashi T, Saya H, Kosaki K.

Am J Med Genet A. 2014 Feb;164A(2):392-6. doi: 10.1002/ajmg.a.36288. Epub 2013 Dec 5. Review.

PMID:
24311457
18.

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. Epub 2014 May 28.

19.

[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
20.

Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome.

Thiel C, Wilken M, Zenker M, Sticht H, Fahsold R, Gusek-Schneider GC, Rauch A.

Am J Med Genet A. 2009 Jun;149A(6):1263-7. doi: 10.1002/ajmg.a.32837.

PMID:
19449407

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