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Items: 1 to 20 of 92

1.

Peutz-Jeghers syndrome and family planning: the attitude towards prenatal diagnosis and pre-implantation genetic diagnosis.

van Lier MG, Korsse SE, Mathus-Vliegen EM, Kuipers EJ, van den Ouweland AM, Vanheusden K, van Leerdam ME, Wagner A.

Eur J Hum Genet. 2012 Feb;20(2):236-9. doi: 10.1038/ejhg.2011.152. Epub 2011 Aug 10.

2.

Quality of life and psychological distress in patients with Peutz-Jeghers syndrome.

van Lier MG, Mathus-Vliegen EM, van Leerdam ME, Kuipers EJ, Looman CW, Wagner A, Vanheusden K.

Clin Genet. 2010 Sep;78(3):219-26. doi: 10.1111/j.1399-0004.2010.01469.x.

PMID:
20695872
3.

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.

4.

Opinion about reproductive decision making among individuals undergoing BRCA1/2 genetic testing in a multicentre Spanish cohort.

Fortuny D, Balmaña J, Graña B, Torres A, Ramón y Cajal T, Darder E, Gadea N, Velasco A, López C, Sanz J, Alonso C, Brunet J.

Hum Reprod. 2009 Apr;24(4):1000-6. doi: 10.1093/humrep/den471. Epub 2008 Dec 26. Erratum in: Hum Reprod. 2009 Jul;24(7):1772.

PMID:
19112076
5.

Nasal polyposis in Peutz-Jeghers syndrome: a distinct histopathological and molecular genetic entity.

de Leng WW, Westerman AM, Weterman MA, Jansen M, van Dekken H, Giardiello FM, de Rooij FW, Paul Wilson JH, Offerhaus GJ, Keller JJ.

J Clin Pathol. 2007 Apr;60(4):392-6. Epub 2006 Jun 14.

6.

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.

7.
8.

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
9.

Professionals assess the acceptability of preimplantation genetic diagnosis and prenatal diagnosis for managing inherited predisposition to cancer.

Julian-Reynier C, Chabal F, Frebourg T, Lemery D, Noguès C, Puech F, Stoppa-Lyonnet D.

J Clin Oncol. 2009 Sep 20;27(27):4475-80. doi: 10.1200/JCO.2008.21.2712. Epub 2009 Aug 24.

PMID:
19704065
10.

Findings from the Peutz-Jeghers syndrome registry of uruguay.

Tchekmedyian A, Amos CI, Bale SJ, Zhu D, Arold S, Berrueta J, Nabon N, McGarrity T.

PLoS One. 2013 Nov 19;8(11):e79639. doi: 10.1371/journal.pone.0079639. eCollection 2013.

11.

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.

12.

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.

13.

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
14.

Peutz-Jeghers syndrome: clinicopathology and molecular alterations.

McGarrity TJ, Amos C.

Cell Mol Life Sci. 2006 Sep;63(18):2135-44. Review.

PMID:
16952058
15.

[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
16.

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
17.

Attitude towards pre-implantation genetic diagnosis for hereditary cancer.

Lammens C, Bleiker E, Aaronson N, Vriends A, Ausems M, Jansweijer M, Wagner A, Sijmons R, van den Ouweland A, van der Luijt R, Spruijt L, Gómez García E, Ruijs M, Verhoef S.

Fam Cancer. 2009;8(4):457-64. doi: 10.1007/s10689-009-9265-5. Epub 2009 Jul 30.

18.

A novel de novo mutation in LKB1 gene in a Chinese Peutz Jeghers syndrome patient significantly diminished p53 activity.

Liu L, Du X, Nie J.

Clin Res Hepatol Gastroenterol. 2011 Mar;35(3):221-6. doi: 10.1016/j.clinre.2010.11.008. Epub 2011 Mar 15.

PMID:
21411391
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.

Psychosocial impact of Peutz-Jeghers Syndrome.

Woo A, Sadana A, Mauger DT, Baker MJ, Berk T, McGarrity TJ.

Fam Cancer. 2009;8(1):59-65. doi: 10.1007/s10689-008-9202-z. Epub 2008 Jul 5.

PMID:
18604594

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