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Items: 1 to 20 of 98

1.

Childhood T-cell non-Hodgkin's lymphoma, colorectal carcinoma and brain tumor in association with café-au-lait spots caused by a novel homozygous PMS2 mutation.

Kratz CP, Niemeyer CM, Jüttner E, Kartal M, Weninger A, Schmitt-Graeff A, Kontny U, Lauten M, Utzolino S, Rädecke J, Fonatsch C, Wimmer K.

Leukemia. 2008 May;22(5):1078-80. Epub 2007 Nov 15. No abstract available.

PMID:
18007577
2.

Café-au-lait macules and pediatric malignancy caused by biallelic mutations in the DNA mismatch repair (MMR) gene PMS2.

Jackson CC, Holter S, Pollett A, Clendenning M, Chou S, Senter L, Ramphal R, Gallinger S, Boycott K.

Pediatr Blood Cancer. 2008 Jun;50(6):1268-70. doi: 10.1002/pbc.21514.

PMID:
18273873
3.

PMS2 mutations in childhood cancer.

De Vos M, Hayward BE, Charlton R, Taylor GR, Glaser AW, Picton S, Cole TR, Maher ER, McKeown CM, Mann JR, Yates JR, Baralle D, Rankin J, Bonthron DT, Sheridan E.

J Natl Cancer Inst. 2006 Mar 1;98(5):358-61.

4.

Homozygous PMS2 germline mutations in two families with early-onset haematological malignancy, brain tumours, HNPCC-associated tumours, and signs of neurofibromatosis type 1.

Krüger S, Kinzel M, Walldorf C, Gottschling S, Bier A, Tinschert S, von Stackelberg A, Henn W, Görgens H, Boue S, Kölble K, Büttner R, Schackert HK.

Eur J Hum Genet. 2008 Jan;16(1):62-72. Epub 2007 Sep 12.

5.

Homozygous PMS2 deletion causes a severe colorectal cancer and multiple adenoma phenotype without extraintestinal cancer.

Will O, Carvajal-Carmona LG, Gorman P, Howarth KM, Jones AM, Polanco-Echeverry GM, Chinaleong JA, Günther T, Silver A, Clark SK, Tomlinson I.

Gastroenterology. 2007 Feb;132(2):527-30. Epub 2006 Nov 29.

PMID:
17258725
6.

Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation.

Auclair J, Leroux D, Desseigne F, Lasset C, Saurin JC, Joly MO, Pinson S, Xu XL, Montmain G, Ruano E, Navarro C, Puisieux A, Wang Q.

Hum Mutat. 2007 Nov;28(11):1084-90.

PMID:
17557300
7.

A homozygous MSH6 mutation in a child with café-au-lait spots, oligodendroglioma and rectal cancer.

Menko FH, Kaspers GL, Meijer GA, Claes K, van Hagen JM, Gille JJ.

Fam Cancer. 2004;3(2):123-7.

PMID:
15340263
8.

Biallelic PMS2 mutations and a distinctive childhood cancer syndrome.

Tan TY, Orme LM, Lynch E, Croxford MA, Dow C, Dewan PA, Lipton L.

J Pediatr Hematol Oncol. 2008 Mar;30(3):254-7. doi: 10.1097/MPH.0b013e318161aa20.

PMID:
18376293
9.

Café-au-lait spots and early onset colorectal neoplasia: a variant of HNPCC?

Trimbath JD, Petersen GM, Erdman SH, Ferre M, Luce MC, Giardiello FM.

Fam Cancer. 2001;1(2):101-5.

PMID:
14574005
10.

Two PMS2 mutations in a Turcot syndrome family with small bowel cancers.

Agostini M, Tibiletti MG, Lucci-Cordisco E, Chiaravalli A, Morreau H, Furlan D, Boccuto L, Pucciarelli S, Capella C, Boiocchi M, Viel A.

Am J Gastroenterol. 2005 Aug;100(8):1886-91.

PMID:
16144131
11.

Colorectal Cancer due to Constitutional Mismatch Repair Deficiency Mimicking Neurofibromatosis I.

Urganci N, Genc DB, Kose G, Onal Z, Vidin OO.

Pediatrics. 2015 Oct;136(4):e1047-50. doi: 10.1542/peds.2015-1426. Epub 2015 Sep 21.

PMID:
26391938
12.

Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome.

De Vos M, Hayward BE, Picton S, Sheridan E, Bonthron DT.

Am J Hum Genet. 2004 May;74(5):954-64. Epub 2004 Apr 7.

13.
14.

Constitutional mismatch repair deficiency presenting in childhood as three simultaneous malignancies.

Walter AW, Ennis S, Best H, Vaughn CP, Swensen JJ, Openshaw A, Gripp KW.

Pediatr Blood Cancer. 2013 Nov;60(11):E135-6. doi: 10.1002/pbc.24613. Epub 2013 Jun 1.

PMID:
23729388
15.

PMS2 mutations in childhood cancer.

Bonthron DT, Hayward BE, De Vos M, Sheridan E.

Gut. 2005 Dec;54(12):1821. No abstract available.

16.

A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype.

Li L, Hamel N, Baker K, McGuffin MJ, Couillard M, Gologan A, Marcus VA, Chodirker B, Chudley A, Stefanovici C, Durandy A, Hegele RA, Feng BJ, Goldgar DE, Zhu J, De Rosa M, Gruber SB, Wimmer K, Young B, Chong G, Tischkowitz MD, Foulkes WD.

J Med Genet. 2015 May;52(5):348-52. doi: 10.1136/jmedgenet-2014-102934. Epub 2015 Feb 17.

PMID:
25691505
17.

A homozygous mutation in MSH6 causes Turcot syndrome.

Hegde MR, Chong B, Blazo ME, Chin LH, Ward PA, Chintagumpala MM, Kim JY, Plon SE, Richards CS.

Clin Cancer Res. 2005 Jul 1;11(13):4689-93.

18.

A homozygote splice site PMS2 mutation as cause of Turcot syndrome gives rise to two different abnormal transcripts.

Sjursen W, Bjørnevoll I, Engebretsen LF, Fjelland K, Halvorsen T, Myrvold HE.

Fam Cancer. 2009;8(3):179-86. doi: 10.1007/s10689-008-9225-5. Epub 2008 Nov 28.

PMID:
19039682
19.

Phenotype associated with recessively inherited mutations in DNA mismatch repair (MMR) genes.

de Vos M, Hayward B, Bonthron DT, Sheridan E.

Biochem Soc Trans. 2005 Aug;33(Pt 4):718-20. Review.

PMID:
16042583
20.

Hypothesis: Possible role of retinoic acid therapy in patients with biallelic mismatch repair gene defects.

Gottschling S, Reinhard H, Pagenstecher C, Krüger S, Raedle J, Plotz G, Henn W, Buettner R, Meyer S, Graf N.

Eur J Pediatr. 2008 Feb;167(2):225-9. Epub 2007 Mar 27.

PMID:
17387511
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