|
1
|
Voron DA, Hatfield HH and Kalkhoff RK:
Multiple lentigines syndrome: Case report and review of the
literature. Am J Med. 60:447–456. 1976. View Article : Google Scholar : PubMed/NCBI
|
|
2
|
Digilio MC, Sarkozy A, de Zorzi A, Pacileo
G, Limongelli G, Mingarelli R, Calabrò R, Marino B and Dallapiccola
B: LEOPARD syndrome: Clinical diagnosis in the first year of life.
Am J Med Genet A. 140:740–746. 2006. View Article : Google Scholar : PubMed/NCBI
|
|
3
|
Martínez-Quintana E and Rodríguez-González
F: LEOPARD syndrome: Clinical features and gene mutations. Mol
Syndromol. 3:145–157. 2012.PubMed/NCBI
|
|
4
|
Nishi E, Mizuno S, Nanjo Y, Niihori T,
Fukushima Y, Matsubara Y, Aoki Y and Kosho T: A novel heterozygous
MAP2K1 mutation in a patient with Noonan syndrome with multiple
lentigines. Am J Med Genet A. 167A:407–411. 2015. View Article : Google Scholar
|
|
5
|
Wang Y, Chen C and Wang DW: Leopard
syndrome caused by heterozygous missense mutation of Tyr 279 Cys in
the PTPN11 gene in a sporadic case of Chinese Han. Int J Cardiol.
174:e101–e104. 2014. View Article : Google Scholar : PubMed/NCBI
|
|
6
|
Lin IS, Wang JN, Chao SC, Wu JM and Lin
SJ: PTPN11 mutations in LEOPARD syndrome: Report of four cases in
Taiwan. J Formos Med Assoc. 108:803–807. 2009. View Article : Google Scholar : PubMed/NCBI
|
|
7
|
Valero MC, Martín Y, Hernández-Imaz E,
Marina Hernández A, Meleán G, Valero AM, Javier Rodríguez-Álvarez
F, Tellería D and Hernández-Chico C: A highly sensitive genetic
protocol to detect NF1 mutations. J Mol Diagn. 13:113–122. 2011.
View Article : Google Scholar : PubMed/NCBI
|
|
8
|
Zhang J, Tong H, Fu X, Zhang Y, Liu J,
Cheng R, Liang J, Peng J, Sun Z, Liu H, et al: Molecular
Characterization of NF1 and Neurofibromatosis type 1
genotype-phenotype correlations in a Chinese population. Sci Rep.
5:112912015. View Article : Google Scholar : PubMed/NCBI
|
|
9
|
Santoro C, Pacileo G, Limongelli G,
Scianguetta S, Giugliano T, Piluso G, Ragione FD, Cirillo M, Mirone
G and Perrotta S: LEOPARD syndrome: Clinical dilemmas in
differential diagnosis of RASopathies. BMC Med Genet. 15:442014.
View Article : Google Scholar : PubMed/NCBI
|
|
10
|
Limongelli G, Sarkozy A, Pacileo G,
Calabrò P, Digilio MC, Maddaloni V, Gagliardi G, Di Salvo G,
Iacomino M, Marino B, et al: Genotype-phenotype analysis and
natural history of left ventricular hypertrophy in LEOPARD
syndrome. Am J Med Genet A. 146A:620–628. 2008. View Article : Google Scholar : PubMed/NCBI
|
|
11
|
Carcavilla A, Pinto I, Muñoz-Pacheco R,
Barrio R, Martin-Frías M and Ezquieta B: LEOPARD syndrome (PTPN11,
T468M) in three boys fulfilling neurofibromatosis type 1 clinical
criteria. Eur J Pediatr. 170:1069–1074. 2011. View Article : Google Scholar : PubMed/NCBI
|
|
12
|
Keren B, Hadchouel A, Saba S, Sznajer Y,
Bonneau D, Leheup B, Boute O, Gaillard D, Lacombe D, Layet V, et
al: PTPN11 mutations in patients with LEOPARD syndrome: A French
multicentric experience. J Med Genet. 41:e1172004. View Article : Google Scholar : PubMed/NCBI
|
|
13
|
Carcavilla A, Santomé JL, Pinto I,
Sánchez-Pozo J, Guillén-Navarro E, Martín-Frías M, Lapunzina P and
Ezquieta B: LEOPARD syndrome: A variant of Noonan syndrome strongly
associated with hypertrophic cardiomyopathy. Rev Esp Cardiol (Engl
Ed). 66:350–356. 2013. View Article : Google Scholar
|
|
14
|
Sarkozy A, Conti E, Digilio MC, Marino B,
Morini E, Pacileo G, Wilson M, Calabrò R, Pizzuti A and
Dallapiccola B: Clinical and molecular analysis of 30 patients with
multiple lentigines LEOPARD syndrome. J Med Genet. 41:e682004.
View Article : Google Scholar : PubMed/NCBI
|
|
15
|
Rankin J, Short J, Turnpenny P, Castle B
and Hanemann CO: Medulloblastoma in a patient with the PTPN11
p.Thr468Met mutation. Am J Med Genet A. 161A:2027–2029. 2013.
View Article : Google Scholar : PubMed/NCBI
|
|
16
|
Conti E, Dottorini T, Sarkozy A, Tiller
GE, Esposito G, Pizzuti A and Dallapiccola B: A novel PTPN11
mutation in LEOPARD syndrome. Hum Mutat. 21:6542003. View Article : Google Scholar
|
|
17
|
Osawa R, Akiyama M, Yamanaka Y, Ujiie H,
Nemoto-Hasebe I, Takeda A, Yanagi T and Shimizu H: A novel PTPN11
missense mutation in a patient with LEOPARD syndrome. Br J
Dermatol. 161:1202–1204. 2009. View Article : Google Scholar : PubMed/NCBI
|
|
18
|
Digilio MC, Conti E, Sarkozy A, Mingarelli
R, Dottorini T, Marino B, Pizzuti A and Dallapiccola B: Grouping of
multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11
gene. Am J Hum Genet. 71:389–394. 2002. View Article : Google Scholar : PubMed/NCBI
|
|
19
|
Kontaridis MI, Swanson KD, David FS,
Barford D and Neel BG: PTPN11 (Shp2) mutations in LEOPARD syndrome
have dominant negative, not activating, effects. J Biol Chem.
281:6785–6792. 2006. View Article : Google Scholar
|
|
20
|
Schramm C, Fine DM, Edwards MA, Reeb AN
and Krenz M: The PTPN11 loss-of-function mutation Q510E-Shp2 causes
hypertrophic cardiomyopathy by dysregulating mTOR signaling. Am J
Physiol Heart Circ Physiol. 302:H231–H243. 2012. View Article : Google Scholar
|
|
21
|
Marin TM, Keith K, Davies B, Conner DA,
Guha P, Kalaitzidis D, Wu X, Lauriol J, Wang B, Bauer M, et al:
Rapamycin reverses hypertrophic cardiomyopathy in a mouse model of
LEOPARD syndrome-associated PTPN11 mutation. J Clin Invest.
121:1026–1043. 2011. View
Article : Google Scholar : PubMed/NCBI
|
|
22
|
Motegi S, Yokoyama Y, Ogino S, Yamada K,
Uchiyama A, Perera B, Takeuchi Y, Ohnishi H and Ishikawa O:
Pathogenesis of multiple lentigines in LEOPARD syndrome with PTPN11
gene mutation. Acta Derm Venereol. 95:978–984. 2015. View Article : Google Scholar : PubMed/NCBI
|
|
23
|
Yu ZH, Zhang RY, Walls CD, Chen L, Zhang
S, Wu L, Liu S and Zhang ZY: Molecular basis of gain-of-function
LEOPARD syndrome-associated SHP2 mutations. Biochemistry.
53:4136–4151. 2014. View Article : Google Scholar : PubMed/NCBI
|
|
24
|
Yu ZH, Xu J, Walls CD, Chen L, Zhang S,
Zhang R, Wu L, Wang L, Liu S and Zhang ZY: Structural and
mechanistic insights into LEOPARD syndrome-associated SHP2
mutations. J Biol Chem. 288:10472–10482. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
25
|
Tartaglia M, Mehler EL, Goldberg R,
Zampino G, Brunner HG, Kremer H, van der Burgt I, Crosby AH, Ion A,
Jeffery S, et al: Mutations in PTPN11, encoding the protein
tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet.
29:465–468. 2001. View
Article : Google Scholar : PubMed/NCBI
|
|
26
|
Sarkozy A, Digilio MC and Dallapiccola B:
Leopard syndrome. Orphanet J Rare Dis. 3:132008. View Article : Google Scholar : PubMed/NCBI
|
|
27
|
Kratz CP, Rapisuwon S, Reed H, Hasle H and
Rosenberg PS: Cancer in Noonan, Costello, cardiofaciocutaneous and
LEOPARD syndromes. Am J Med Genet C Semin Med Genet. 157C:83–89.
2011. View Article : Google Scholar : PubMed/NCBI
|
|
28
|
Tartaglia M, Niemeyer CM, Fragale A, Song
X, Buechner J, Jung A, Hählen K, Hasle H, Licht JD and Gelb BD:
Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia,
myelodysplastic syndromes and acute myeloid leukemia. Nat Genet.
34:148–150. 2003. View
Article : Google Scholar
|
