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Items: 1 to 20 of 244

1.

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.

2.

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
3.

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
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.
6.

Genetic heterogeneity in Peutz-Jeghers syndrome.

Boardman LA, Couch FJ, Burgart LJ, Schwartz D, Berry R, McDonnell SK, Schaid DJ, Hartmann LC, Schroeder JJ, Stratakis CA, Thibodeau SN.

Hum Mutat. 2000;16(1):23-30.

PMID:
10874301
7.

Peutz-Jeghers syndrome: confirmation of linkage to chromosome 19p13.3 and identification of a potential second locus, on 19q13.4.

Mehenni H, Blouin JL, Radhakrishna U, Bhardwaj SS, Bhardwaj K, Dixit VB, Richards KF, Bermejo-Fenoll A, Leal AS, Raval RC, Antonarakis SE.

Am J Hum Genet. 1997 Dec;61(6):1327-34.

8.

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
9.

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
10.

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.

11.

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
12.

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.

13.

Molecular genetic alterations in hamartomatous polyps and carcinomas of patients with Peutz-Jeghers syndrome.

Entius MM, Keller JJ, Westerman AM, van Rees BP, van Velthuysen ML, de Goeij AF, Wilson JH, Giardiello FM, Offerhaus GJ.

J Clin Pathol. 2001 Feb;54(2):126-31.

14.

[Peutz-Jeghers syndrome: case report and update on diagnosis and treatment].

Capasso L, Lombari P, Scarano MI, Izzo P, D'Ambrosio R, Iannucci A, Formisano V, Lombari C.

Minerva Chir. 2001 Dec;56(6):643-7. Review. Italian.

PMID:
11721206
15.

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
16.

Allelic imbalance at the LKB1 (STK11) locus in tumours from patients with Peutz-Jeghers' syndrome provides evidence for a hamartoma-(adenoma)-carcinoma sequence.

Wang ZJ, Ellis I, Zauber P, Iwama T, Marchese C, Talbot I, Xue WH, Yan ZY, Tomlinson I.

J Pathol. 1999 May;188(1):9-13.

PMID:
10398133
18.

Loss of cytoplasmic retention ability of mutant LKB1 found in Peutz-Jeghers syndrome patients.

Nezu J, Oku A, Shimane M.

Biochem Biophys Res Commun. 1999 Aug 11;261(3):750-5.

PMID:
10441497
19.

Complete germline deletion of the STK11 gene in a family with Peutz-Jeghers syndrome.

Le Meur N, Martin C, Saugier-Veber P, Joly G, Lemoine F, Moirot H, Rossi A, Bachy B, Cabot A, Joly P, Frébourg T.

Eur J Hum Genet. 2004 May;12(5):415-8.

20.

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.

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