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Items: 1 to 20 of 97

1.

Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome.

Sarkozy A, Conti E, Digilio MC, Marino B, Morini E, Pacileo G, Wilson M, Calabrò R, Pizzuti A, Dallapiccola B.

J Med Genet. 2004 May;41(5):e68. No abstract available.

2.

PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience.

Keren B, Hadchouel A, Saba S, Sznajer Y, Bonneau D, Leheup B, Boute O, Gaillard D, Lacombe D, Layet V, Marlin S, Mortier G, Toutain A, Beylot C, Baumann C, Verloes A, Cavé H; French Collaborative Noonan Study Group.

J Med Genet. 2004 Nov;41(11):e117. No abstract available.

3.

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
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.

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
6.

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
7.

Two novel and one recurrent PTPN11 mutations in LEOPARD syndrome.

Yoshida R, Nagai T, Hasegawa T, Kinoshita E, Tanaka T, Ogata T.

Am J Med Genet A. 2004 Nov 1;130A(4):432-4. No abstract available.

PMID:
15389709
8.

[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
9.

A novel PTPN11 gene mutation in a patient with LEOPARD Syndrome.

Du-Thanh A, Cave H, Bessis D, Puso C, Guilhou JJ, Dereure O.

Arch Dermatol. 2007 Sep;143(9):1210-1. No abstract available.

PMID:
17875892
10.

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
11.

[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
12.

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.

13.

[LEOPARD syndrome].

Yoshida R.

Nihon Rinsho. 2006 Sep 28;Suppl 3:465-7. Review. Japanese. No abstract available.

PMID:
17022588
14.

Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.

Sarkozy A, Conti E, Seripa D, Digilio MC, Grifone N, Tandoi C, Fazio VM, Di Ciommo V, Marino B, Pizzuti A, Dallapiccola B.

J Med Genet. 2003 Sep;40(9):704-8. No abstract available.

15.

Congenital intrahepatic portosystemic venous shunt: an unusual feature in LEOPARD syndrome and in neurofibromatosis type 1.

Digilio MC, Capolino R, Marino B, Sarkozy A, Dallapiccola B.

Am J Med Genet A. 2005 May 1;134(4):457-8. No abstract available.

PMID:
15669093
16.

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.

17.

Schizencephaly in LEOPARD syndrome.

Liang JS, Chien YH, Hwu WL, Yeh SJ, Peng SF.

Pediatr Neurol. 2009 Jul;41(1):71-3. doi: 10.1016/j.pediatrneurol.2009.02.015.

PMID:
19520282
18.

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
19.

Acute myelomonocytic leukemia in a boy with LEOPARD syndrome (PTPN11 gene mutation positive).

Uçar C, Calýskan U, Martini S, Heinritz W.

J Pediatr Hematol Oncol. 2006 Mar;28(3):123-5.

PMID:
16679933
20.

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

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