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Items: 1 to 20 of 160

1.

High Resolution Melting analysis as a rapid and efficient method of screening for small mutations in the STK11 gene in patients with Peutz-Jeghers syndrome.

Borun P, Bartkowiak A, Banasiewicz T, Nedoszytko B, Nowakowska D, Teisseyre M, Limon J, Lubinski J, Kubaszewski L, Walkowiak J, Czkwianianc E, Siolek M, Kedzia A, Krokowicz P, Cichy W, Plawski A.

BMC Med Genet. 2013 May 30;14:58. doi: 10.1186/1471-2350-14-58.

2.

High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome.

Aretz S, Stienen D, Uhlhaas S, Loff S, Back W, Pagenstecher C, McLeod DR, Graham GE, Mangold E, Santer R, Propping P, Friedl W.

Hum Mutat. 2005 Dec;26(6):513-9.

PMID:
16287113
3.

Germline mutations of the STK11 gene in Korean Peutz-Jeghers syndrome patients.

Yoon KA, Ku JL, Choi HS, Heo SC, Jeong SY, Park YJ, Kim NK, Kim JC, Jung PM, Park JG.

Br J Cancer. 2000 Apr;82(8):1403-6.

4.

A novel de novo mutation in the serine-threonine kinase STK11 gene in a Korean patient with Peutz-Jeghers syndrome.

Yoo JH, Yoo JH, Choi YJ, Kang JG, Sun YK, Ki CS, Lee KA, Choi JR.

BMC Med Genet. 2008 May 22;9:44. doi: 10.1186/1471-2350-9-44.

5.

[Mutation analysis of STK11 gene coding region for 20 Chinese patients with Peutz-Jeghers syndrome].

Zhao X, Li Y, Ling Y, Chen H, Zhang B, Xia T, Zhou P.

Nan Fang Yi Ke Da Xue Xue Bao. 2012 Apr;32(4):511-4. Chinese.

6.

Mutations in STK11 gene in Czech Peutz-Jeghers patients.

Vasovcák P, Puchmajerová A, Roubalík J, Krepelová A.

BMC Med Genet. 2009 Jul 19;10:69. doi: 10.1186/1471-2350-10-69.

7.

Mapping of a translocation breakpoint in a Peutz-Jeghers hamartoma to the putative PJS locus at 19q13.4 and mutation analysis of candidate genes in polyp and STK11-negative PJS cases.

Hearle N, Lucassen A, Wang R, Lim W, Ross F, Wheeler R, Moore I, Shipley J, Houlston R.

Genes Chromosomes Cancer. 2004 Oct;41(2):163-9.

PMID:
15287029
8.

Exonic STK11 deletions are not a rare cause of Peutz-Jeghers syndrome.

Hearle NC, Rudd MF, Lim W, Murday V, Lim AG, Phillips RK, Lee PW, O'donohue J, Morrison PJ, Norman A, Hodgson SV, Lucassen A, Houlston RS.

J Med Genet. 2006 Apr;43(4):e15.

9.

Two novel STK11 mutations in three Chinese families with Peutz-Jeghers syndrome.

Zuo YG, Xu KJ, Su B, Ho MG, Liu YH.

Chin Med J (Engl). 2007 Jul 5;120(13):1183-6.

PMID:
17637250
10.

Novel mutations in the LKB1/STK11 gene in Dutch Peutz-Jeghers families.

Westerman AM, Entius MM, Boor PP, Koole R, de Baar E, Offerhaus GJ, Lubinski J, Lindhout D, Halley DJ, de Rooij FW, Wilson JH.

Hum Mutat. 1999;13(6):476-81.

PMID:
10408777
11.

STK11 domain XI mutations: candidate genetic drivers leading to the development of dysplastic polyps in Peutz-Jeghers syndrome.

Wang Z, Wu B, Mosig RA, Chen Y, Ye F, Zhang Y, Gong W, Gong L, Huang F, Wang X, Nie B, Zheng H, Cui M, Wang Y, Wang J, Chen C, Polydorides AD, Zhang DY, Martignetti JA, Jiang B.

Hum Mutat. 2014 Jul;35(7):851-8. doi: 10.1002/humu.22549. Epub 2014 Jun 3.

PMID:
24652667
12.

[Mutation analysis of STK11 gene in a Chinese family with Peutz-Jeghers syndrome].

Zhao X, Huang Y, Yang B, Zhao Y.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Jun;31(3):294-7. doi: 10.3760/cma.j.issn.1003-9406.2014.03.008. Chinese.

PMID:
24928005
13.
15.

A novel mutation in STK11 gene is associated with Peutz-Jeghers Syndrome in Indian patients.

Thakur N, Reddy DN, Rao GV, Mohankrishna P, Singh L, Chandak GR.

BMC Med Genet. 2006 Sep 30;7:73.

16.

Specific Alu elements involved in a significant percentage of copy number variations of the STK11 gene in patients with Peutz-Jeghers syndrome.

Borun P, De Rosa M, Nedoszytko B, Walkowiak J, Plawski A.

Fam Cancer. 2015 Sep;14(3):455-61. doi: 10.1007/s10689-015-9800-5.

17.

De novo germline mutation in the serine-threonine kinase STK11/LKB1 gene associated with Peutz-Jeghers syndrome.

Hernan I, Roig I, Martin B, Gamundi MJ, Martinez-Gimeno M, Carballo M.

Clin Genet. 2004 Jul;66(1):58-62.

PMID:
15200509
18.

Nine novel germline mutations of STK11 in ten families with Peutz-Jeghers syndrome.

Nakagawa H, Koyama K, Miyoshi Y, Ando H, Baba S, Watatani M, Yasutomi M, Matsuura N, Monden M, Nakamura Y.

Hum Genet. 1998 Aug;103(2):168-72.

PMID:
9760200
19.

Mutation analysis of the STK11/LKB1 gene and clinical characteristics of an Australian series of Peutz-Jeghers syndrome patients.

Scott RJ, Crooks R, Meldrum CJ, Thomas L, Smith CJ, Mowat D, McPhillips M, Spigelman AD.

Clin Genet. 2002 Oct;62(4):282-7.

PMID:
12372054
20.

An updated mutation spectrum in an Australian series of PJS patients provides further evidence for only one gene locus.

Chow E, Meldrum CJ, Crooks R, Macrae F, Spigelman AD, Scott RJ.

Clin Genet. 2006 Nov;70(5):409-14.

PMID:
17026623

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