Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 177

1.

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
2.

Hepatoblastoma in a Noonan syndrome patient with a PTPN11 mutation.

Yoshida R, Ogata T, Masawa N, Nagai T.

Pediatr Blood Cancer. 2008 Jun;50(6):1274-6. doi: 10.1002/pbc.21509.

PMID:
18253957
3.

Germline PTPN11 missense mutation in a case of Noonan syndrome associated with mediastinal and retroperitoneal neuroblastic tumors.

Mutesa L, Pierquin G, Janin N, Segers K, Thomée C, Provenzi M, Bours V.

Cancer Genet Cytogenet. 2008 Apr 1;182(1):40-2. doi: 10.1016/j.cancergencyto.2007.12.005.

PMID:
18328949
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.

Cochlear implantation and clinical features in patients with Noonan syndrome and Noonan syndrome with multiple lentigines caused by a mutation in PTPN11.

van Nierop JWI, van Trier DC, van der Burgt I, Draaisma JMT, Mylanus EAM, Snik AF, Admiraal RJC, Kunst HPM.

Int J Pediatr Otorhinolaryngol. 2017 Jun;97:228-234. doi: 10.1016/j.ijporl.2017.04.024. Epub 2017 Apr 17.

PMID:
28483241
6.

[New findings in Noonan syndrome and Leopard syndrome: activating mutations in RAF-1 and SOS-1].

Dereure O.

Ann Dermatol Venereol. 2008 Aug-Sep;135(8-9):624-5. doi: 10.1016/j.annder.2008.06.002. Epub 2008 Aug 8. French. No abstract available.

PMID:
18789305
7.

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
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 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
10.

[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
11.

Occurrence of acute lymphoblastic leukemia and juvenile myelomonocytic leukemia in a patient with Noonan syndrome carrying the germline PTPN11 mutation p.E139D.

Pauli S, Steinemann D, Dittmann K, Wienands J, Shoukier M, Möschner M, Burfeind P, Manukjan G, Göhring G, Escherich G.

Am J Med Genet A. 2012 Mar;158A(3):652-8. doi: 10.1002/ajmg.a.34439. Epub 2012 Feb 7.

PMID:
22315187
12.

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.

13.

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.

14.

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.

15.

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
16.

[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
17.

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
18.

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
19.

Orthopaedic conditions in Ras/MAPK related disorders.

Reinker KA, Stevenson DA, Tsung A.

J Pediatr Orthop. 2011 Jul-Aug;31(5):599-605. doi: 10.1097/BPO.0b013e318220396e.

PMID:
21654472
20.

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

Supplemental Content

Support Center