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Items: 1 to 20 of 160

1.

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
2.

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.

3.

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
4.

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.

5.

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.

6.

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.

7.

An updated mutation spectrum in an Australian series of PJS patients provides further evidence for only one gene locus.

Chow E, Meldrum CJ, Crooks R, Macrae F, Spigelman AD, Scott RJ.

Clin Genet. 2006 Nov;70(5):409-14.

PMID:
17026623
8.

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.

9.
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.

Nine novel germline mutations of STK11 in ten families with Peutz-Jeghers syndrome.

Nakagawa H, Koyama K, Miyoshi Y, Ando H, Baba S, Watatani M, Yasutomi M, Matsuura N, Monden M, Nakamura Y.

Hum Genet. 1998 Aug;103(2):168-72.

PMID:
9760200
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.

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.

14.
15.

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
16.

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.

17.

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
18.

First report of somatic mosaicism for mutations in STK11 in four patients with Peutz-Jeghers syndrome.

McKay V, Cairns D, Gokhale D, Mountford R, Greenhalgh L.

Fam Cancer. 2016 Jan;15(1):57-61. doi: 10.1007/s10689-015-9839-3.

PMID:
26386697
19.

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
20.

A Clinical and Molecular Genetic Study in 11 Chinese Children With Peutz-Jeghers Syndrome.

Zheng B, Wang C, Jia Z, Liu Z, Li M, Jin Y, Pan J.

J Pediatr Gastroenterol Nutr. 2017 Apr;64(4):559-564. doi: 10.1097/MPG.0000000000001316.

PMID:
27467201

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