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Items: 1 to 20 of 131

1.

[Mutation screening of LKB1 gene in familial Peutz-Jeghers syndrome patients].

Chen CY, Zhang XM, Wang FY, Wang ZK, Zhu M, Ma GJ, Zhang YY, Jin XX, Shi H, Liu J.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2012 Apr;29(2):121-5. doi: 10.3760/cma.j.issn.1003-9406.2012.02.001. Chinese.

PMID:
22487816
2.

Genetic Screening and Analysis of LKB1 Gene in Chinese Patients with Peutz-Jeghers Syndrome.

Chen C, Zhang X, Wang D, Wang F, Pan J, Wang Z, Liu C, Wu L, Lu H, Li N, Wei J, Shi H, Wan H, Zhu M, Chen S, Zhou Y, Zhou X, Yang L, Liu J.

Med Sci Monit. 2016 Oct 10;22:3628-3640.

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.

One novel deletion and one splicing mutation of the LKB1 gene in two Chinese patients with Peutz-Jeghers syndrome.

Chen C, Zhang X, Wang F, Liu C, Lu H, Wan H, Wei J, Liu J.

DNA Cell Biol. 2012 Oct;31(10):1535-40. Epub 2012 Aug 28.

PMID:
22928647
5.

Mutations and impaired function of LKB1 in familial and non-familial Peutz-Jeghers syndrome and a sporadic testicular cancer.

Ylikorkala A, Avizienyte E, Tomlinson IP, Tiainen M, Roth S, Loukola A, Hemminki A, Johansson M, Sistonen P, Markie D, Neale K, Phillips R, Zauber P, Twama T, Sampson J, Järvinen H, Mäkelä TP, Aaltonen LA.

Hum Mol Genet. 1999 Jan;8(1):45-51.

PMID:
9887330
6.

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
7.

[Germline LKB1 gene mutation screening in 4 Chinese Peutz-Jeghers syndrome pedigrees].

Wang Z, Yan Z, Bi G, Xu W, Huang T.

Zhonghua Wai Ke Za Zhi. 2000 Feb;38(2):104-5. Chinese.

PMID:
11832000
8.

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
9.

Germline mutations of the LKB1 (STK11) gene in Peutz-Jeghers patients.

Wang ZJ, Churchman M, Avizienyte E, McKeown C, Davies S, Evans DG, Ferguson A, Ellis I, Xu WH, Yan ZY, Aaltonen LA, Tomlinson IP.

J Med Genet. 1999 May;36(5):365-8.

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.
12.

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
13.

[Clinical characteristics and mutation analysis of the LKB1 gene in a Peutz-Jeghers syndrome pedigree].

Pan J, Li M, Jin Y, Zhang XM, Zhu M, Chen SQ.

Zhonghua Er Ke Za Zhi. 2013 Feb;51(2):145-9. Chinese.

PMID:
23527983
14.

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
15.

Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity.

Mehenni H, Gehrig C, Nezu J, Oku A, Shimane M, Rossier C, Guex N, Blouin JL, Scott HS, Antonarakis SE.

Am J Hum Genet. 1998 Dec;63(6):1641-50.

16.

LKB1 exonic and whole gene deletions are a common cause of Peutz-Jeghers syndrome.

Volikos E, Robinson J, Aittomäki K, Mecklin JP, Järvinen H, Westerman AM, de Rooji FW, Vogel T, Moeslein G, Launonen V, Tomlinson IP, Silver AR, Aaltonen LA.

J Med Genet. 2006 May;43(5):e18.

17.

Somatic mutations of LKB1 and beta-catenin genes in gastrointestinal polyps from patients with Peutz-Jeghers syndrome.

Miyaki M, Iijima T, Hosono K, Ishii R, Yasuno M, Mori T, Toi M, Hishima T, Shitara N, Tamura K, Utsunomiya J, Kobayashi N, Kuroki T, Iwama T.

Cancer Res. 2000 Nov 15;60(22):6311-3.

18.

Molecular insights into Peutz-Jeghers syndrome: two probands with a germline mutation of LKB1.

Hosogi H, Nagayama S, Kawamura J, Koshiba Y, Nomura A, Itami A, Okabe H, Satoh S, Watanabe G, Sakai Y.

J Gastroenterol. 2008;43(6):492-7. doi: 10.1007/s00535-008-2185-6. Epub 2008 Jul 4.

PMID:
18600394
19.

[Peutz-Jeghers syndrome].

Miyaki M.

Nihon Rinsho. 2000 Jul;58(7):1400-4. Review. Japanese.

PMID:
10921312
20.

Two novel mutations and a new STK11/LKB1 gene isoform in Peutz-Jeghers patients.

Resta N, Stella A, Susca FC, Di Giacomo M, Forleo G, Miccolis I, Rossini FP, Genuardi M, Piepoli A, Grammatico P, Guanti G.

Hum Mutat. 2002 Jul;20(1):78-9.

PMID:
12112668

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