Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 89

Similar articles for PubMed (Select 15139004)

1.

HNPCC mutation MLH1 P648S makes the functional protein unstable, and homozygosity predisposes to mild neurofibromatosis type 1.

Raevaara TE, Gerdes AM, Lönnqvist KE, Tybjaerg-Hansen A, Abdel-Rahman WM, Kariola R, Peltomäki P, Nyström-Lahti M.

Genes Chromosomes Cancer. 2004 Jul;40(3):261-5.

PMID:
15139004
2.

Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1.

Ricciardone MD, Ozçelik T, Cevher B, Ozdağ H, Tuncer M, Gürgey A, Uzunalimoğlu O, Cetinkaya H, Tanyeli A, Erken E, Oztürk M.

Cancer Res. 1999 Jan 15;59(2):290-3.

3.

Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type.

Wang Q, Montmain G, Ruano E, Upadhyaya M, Dudley S, Liskay RM, Thibodeau SN, Puisieux A.

Hum Genet. 2003 Feb;112(2):117-23. Epub 2002 Nov 21.

PMID:
12522551
4.

Neurofibromatosis and early onset of cancers in hMLH1-deficient children.

Wang Q, Lasset C, Desseigne F, Frappaz D, Bergeron C, Navarro C, Ruano E, Puisieux A.

Cancer Res. 1999 Jan 15;59(2):294-7.

5.

[HNPCC syndrome, microsatellite instability and NF1 gene alteration].

Puisieux A.

Bull Cancer. 1999 Oct;86(10):812-4. Review. French.

PMID:
10572231
6.

Gastrointestinal cancers and neurofibromatosis type 1 features in children with a germline homozygous MLH1 mutation.

Gallinger S, Aronson M, Shayan K, Ratcliffe EM, Gerstle JT, Parkin PC, Rothenmund H, Croitoru M, Baumann E, Durie PR, Weksberg R, Pollett A, Riddell RH, Ngan BY, Cutz E, Lagarde AE, Chan HS.

Gastroenterology. 2004 Feb;126(2):576-85.

PMID:
14762794
7.

[The first molecular analysis of a Hungarian HNPCC family: a novel MSH2 germline mutation].

Czakó L, Tiszlavicz L, Takács R, Baradnay G, Lonovics J, Cserni G, Závodná K, Bartosova Z.

Orv Hetil. 2005 May 15;146(20):1009-16. Hungarian.

PMID:
15945244
8.

Pathogenicity of the hereditary colorectal cancer mutation hMLH1 del616 linked to shortage of the functional protein.

Raevaara TE, Vaccaro C, Abdel-Rahman WM, Mocetti E, Bala S, Lönnqvist KE, Kariola R, Lynch HT, Peltomäki P, Nyström-Lahti M.

Gastroenterology. 2003 Aug;125(2):501-9.

PMID:
12891553
9.

Homozygosity at variant MLH1 can lead to secondary mutation in NF1, neurofibromatosis type I and early onset leukemia.

Alotaibi H, Ricciardone MD, Ozturk M.

Mutat Res. 2008 Jan 1;637(1-2):209-14. Epub 2007 Aug 9.

PMID:
17889038
10.

Use of molecular tumor characteristics to prioritize mismatch repair gene testing in early-onset colorectal cancer.

Southey MC, Jenkins MA, Mead L, Whitty J, Trivett M, Tesoriero AA, Smith LD, Jennings K, Grubb G, Royce SG, Walsh MD, Barker MA, Young JP, Jass JR, St John DJ, Macrae FA, Giles GG, Hopper JL.

J Clin Oncol. 2005 Sep 20;23(27):6524-32. Epub 2005 Aug 22.

11.

Assessing the pathogenicity of MLH1 missense mutations in patients with suspected hereditary nonpolyposis colorectal cancer: correlation with clinical, genetic and functional features.

Belvederesi L, Bianchi F, Loretelli C, Gagliardini D, Galizia E, Bracci R, Rosati S, Bearzi I, Viel A, Cellerino R, Porfiri E.

Eur J Hum Genet. 2006 Jul;14(7):853-9. Epub 2006 May 17.

12.

Microsatellite instability and novel mismatch repair gene mutations in northern Chinese population with hereditary non-polyposis colorectal cancer.

Sheng JQ, Chan TL, Chan YW, Huang JS, Chen JG, Zhang MZ, Guo XL, Mu H, Chan AS, Li SR, Yuen ST, Leung SY.

Chin J Dig Dis. 2006;7(4):197-205.

PMID:
17054581
13.

Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1.

Raevaara TE, Korhonen MK, Lohi H, Hampel H, Lynch E, Lönnqvist KE, Holinski-Feder E, Sutter C, McKinnon W, Duraisamy S, Gerdes AM, Peltomäki P, Kohonen-Ccorish M, Mangold E, Macrae F, Greenblatt M, de la Chapelle A, Nyström M.

Gastroenterology. 2005 Aug;129(2):537-49.

PMID:
16083711
14.

Six novel heterozygous MLH1, MSH2, and MSH6 and one homozygous MLH1 germline mutations in hereditary nonpolyposis colorectal cancer.

Rey JM, Noruzinia M, Brouillet JP, Sarda P, Maudelonde T, Pujol P.

Cancer Genet Cytogenet. 2004 Dec;155(2):149-51.

PMID:
15571801
15.

Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German Hereditary Nonpolyposis Colorectal Cancer Consortium.

Plaschke J, Engel C, Krüger S, Holinski-Feder E, Pagenstecher C, Mangold E, Moeslein G, Schulmann K, Gebert J, von Knebel Doeberitz M, Rüschoff J, Loeffler M, Schackert HK.

J Clin Oncol. 2004 Nov 15;22(22):4486-94. Epub 2004 Oct 13.

16.

A homozygous germ-line mutation in the human MSH2 gene predisposes to hematological malignancy and multiple café-au-lait spots.

Whiteside D, McLeod R, Graham G, Steckley JL, Booth K, Somerville MJ, Andrew SE.

Cancer Res. 2002 Jan 15;62(2):359-62.

18.

Ten novel MSH2 and MLH1 germline mutations in families with HNPCC.

Krüger S, Bier A, Plaschke J, Höhl R, Aust DE, Kreuz FR, Pistorius SR, Saeger HD, Rothhammer V, Al-Taie O, Schackert HK.

Hum Mutat. 2004 Oct;24(4):351-2.

PMID:
15365996
19.

Immunohistochemistry and microsatellite instability testing for selecting MLH1, MSH2 and MSH6 mutation carriers in hereditary non-polyposis colorectal cancer.

Caldés T, Godino J, Sanchez A, Corbacho C, De la Hoya M, Lopez Asenjo J, Saez C, Sanz J, Benito M, Ramon Y Cajal S, Diaz-Rubio E.

Oncol Rep. 2004 Sep;12(3):621-9.

PMID:
15289847
20.

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.

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk