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Items: 1 to 20 of 127

1.

Haploinsufficiency of STK11 and neighboring genes cause a contiguous gene syndrome including Peutz-Jeghers phenotype.

Scollon S, McWalter K, Abe K, King J, Kimata K, Slavin TP.

Am J Med Genet A. 2012 Nov;158A(11):2959-62. doi: 10.1002/ajmg.a.35629. Epub 2012 Sep 14.

PMID:
22987620
2.

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
3.

Microdeletion of 19p13.3 in a girl with Peutz-Jeghers syndrome, intellectual disability, hypotonia, and distinctive features.

Kuroda Y, Saito T, Nagai J, Ida K, Naruto T, Masuno M, Kurosawa K.

Am J Med Genet A. 2015 Feb;167A(2):389-93. doi: 10.1002/ajmg.a.36813. Epub 2014 Dec 8.

PMID:
25487640
4.

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.

5.

Different phenotypes including gynecological cancer in three female patients with Peutz-Jeghers syndrome and mutations in the STK11 gene.

Heinritz W, Strenge S, Kujat A, Hockel M, Froster UG.

Onkologie. 2008 Nov;31(11):625-8. doi: 10.1159/000162284. Epub 2008 Oct 27.

PMID:
19145097
6.

Bronchioloalveolar carcinoma: a new cancer in Peutz-Jeghers syndrome.

von Herbay A, Arens N, Friedl W, Vogt-Moykopf I, Kayser K, Müller KM, Back W.

Lung Cancer. 2005 Feb;47(2):283-8.

PMID:
15639728
7.

Peutz-Jeghers syndrome: four novel inactivating germline mutations in the STK11 gene. Mutations in brief no. 227. Online.

Kruse R, Uhlhaas S, Lamberti C, Keller KM, Jackisch C, Steinhard J, Knöpfle G, Loff S, Back W, Stolte M, Jungck M, Propping P, Friedl W, Jenne DE.

Hum Mutat. 1999;13(3):257-8.

PMID:
10090485
8.

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.

9.

Sertoli Leydig cell ovarian tumour and gastric polyps as presenting features of Peutz-Jeghers syndrome.

Howell L, Bader A, Mullassery D, Losty P, Auth M, Kokai G.

Pediatr Blood Cancer. 2010 Jul 15;55(1):206-7. doi: 10.1002/pbc.22433.

PMID:
20310004
10.

[Peutz-Jeghers syndrome].

Miyaki M.

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

PMID:
10921312
11.

Peutz-Jeghers syndrome: molecular analysis of a three-generation kindred with a novel defect in the serine threonine kinase gene STK11.

Trojan J, Brieger A, Raedle J, Roth WK, Zeuzem S.

Am J Gastroenterol. 1999 Jan;94(1):257-61.

PMID:
9934767
12.

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.

13.

Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase.

Jenne DE, Reimann H, Nezu J, Friedel W, Loff S, Jeschke R, Müller O, Back W, Zimmer M.

Nat Genet. 1998 Jan;18(1):38-43.

PMID:
9425897
14.

Somatic mutation of the Peutz-Jeghers syndrome gene, LKB1/STK11, in malignant melanoma.

Guldberg P, thor Straten P, Ahrenkiel V, Seremet T, Kirkin AF, Zeuthen J.

Oncogene. 1999 Mar 4;18(9):1777-80.

15.
16.

Genetic screening for Peutz-Jeghers syndrome.

Ballhausen WG, Günther K.

Expert Rev Mol Diagn. 2003 Jul;3(4):471-9. Review.

PMID:
12877386
17.

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
18.

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.

19.

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
20.

A novel mutation in the STK11 gene causes heritable Peutz-Jeghers syndrome - a case report.

Chen JH, Zheng JJ, Guo Q, Liu C, Luo B, Tang SB, Cheng JD, Huang EW.

BMC Med Genet. 2017 Feb 23;18(1):19. doi: 10.1186/s12881-017-0373-z.

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