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Items: 1 to 20 of 225

1.

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
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.

STK11/LKB1 germline mutations are not identified in most Peutz-Jeghers syndrome patients.

Jiang CY, Esufali S, Berk T, Gallinger S, Cohen Z, Tobi M, Redston M, Bapat B.

Clin Genet. 1999 Aug;56(2):136-41.

PMID:
10517250
4.

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.

5.

Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: results of an Italian multicenter study.

Resta N, Pierannunzio D, Lenato GM, Stella A, Capocaccia R, Bagnulo R, Lastella P, Susca FC, Bozzao C, Loconte DC, Sabbà C, Urso E, Sala P, Fornasarig M, Grammatico P, Piepoli A, Host C, Turchetti D, Viel A, Memo L, Giunti L, Stigliano V, Varesco L, Bertario L, Genuardi M, Lucci Cordisco E, Tibiletti MG, Di Gregorio C, Andriulli A, Ponz de Leon M; AIFEG.

Dig Liver Dis. 2013 Jul;45(7):606-11. doi: 10.1016/j.dld.2012.12.018. Epub 2013 Feb 15.

PMID:
23415580
6.

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.

7.

High prevalence of germline STK11 mutations in Hungarian Peutz-Jeghers Syndrome patients.

Papp J, Kovacs ME, Solyom S, Kasler M, Børresen-Dale AL, Olah E.

BMC Med Genet. 2010 Nov 30;11:169. doi: 10.1186/1471-2350-11-169.

8.

Further observations on LKB1/STK11 status and cancer risk in Peutz-Jeghers syndrome.

Lim W, Hearle N, Shah B, Murday V, Hodgson SV, Lucassen A, Eccles D, Talbot I, Neale K, Lim AG, O'Donohue J, Donaldson A, Macdonald RC, Young ID, Robinson MH, Lee PW, Stoodley BJ, Tomlinson I, Alderson D, Holbrook AG, Vyas S, Swarbrick ET, Lewis AA, Phillips RK, Houlston RS.

Br J Cancer. 2003 Jul 21;89(2):308-13.

9.

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.

10.
11.

Molecular and clinical characteristics in 46 families affected with Peutz-Jeghers syndrome.

Mehenni H, Resta N, Guanti G, Mota-Vieira L, Lerner A, Peyman M, Chong KA, Aissa L, Ince A, Cosme A, Costanza MC, Rossier C, Radhakrishna U, Burt RW, Picard D.

Dig Dis Sci. 2007 Aug;52(8):1924-33. Epub 2007 Apr 3.

PMID:
17404884
12.

Large deletions and splicing-site mutations in the STK11 gene in Peutz-Jeghers Chilean families.

Orellana P, López-Köstner F, Heine C, Suazo C, Pinto E, Church J, Carvallo P, Alvarez K.

Clin Genet. 2013 Apr;83(4):365-9. doi: 10.1111/j.1399-0004.2012.01928.x. Epub 2012 Aug 7.

PMID:
22775437
13.

Genotype-phenotype correlations in Peutz-Jeghers syndrome.

Amos CI, Keitheri-Cheteri MB, Sabripour M, Wei C, McGarrity TJ, Seldin MF, Nations L, Lynch PM, Fidder HH, Friedman E, Frazier ML.

J Med Genet. 2004 May;41(5):327-33.

14.

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.

15.

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.

16.

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
17.

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.

18.

Identification of a novel de novo STK11 mutation in a Chinese child with Peutz-Jeghers syndrome.

Liu WL, Li F, He ZX, Jiang HY, Ai R, Zhu XP, Chen XX, Ma HW.

J Int Med Res. 2011;39(5):2033-8.

PMID:
22118009
19.

STK11/LKB1 germline mutations in the first Peutz-Jeghers syndrome patients identified in Slovakia.

Bartosova Z, Zavodna K, Krivulcik T, Usak J, Mlkva I, Kruzliak T, Hromec J, Usakova V, Kopecka I, Veres P, Bartosova Z, Bujalkova M.

Neoplasma. 2007;54(2):101-7.

PMID:
17319781
20.

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

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