| 1 | CMMRD
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| Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome.
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| Baas AF, Gabbett M, Rimac M, Kansikas M, Raphael M, Nievelstein RA, Nicholls W, Offerhaus J, Bodmer D, Wernstedt A, Krabichler B, Strasser U, Nyström M, Zschocke J, Robertson SP, van Haelst MM, Wimmer K.
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| Eur J Hum Genet 21(1):55-61. doi: 10.1038/ejhg.2012.117. Epub 2012 Jun 13.
2013
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| 2 | CMMRD, MLH1
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| Role for genetic anticipation in Lynch syndrome.
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| Nilbert M, Timshel S, Bernstein I, Larsen K.
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| J Clin Oncol 27(3):360-4. Epub 2008 Dec 15.
2009
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| 3 | CMMRD, PMS2
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| Homozygous PMS2 germline mutations in two families with early-onset haematological malignancy, brain tumours, HNPCC-associated tumours, and signs of neurofibromatosis type 1.
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| KrŸger S, Kinzel M, Walldorf C, Gottschling S, Bier A, Tinschert S, von Stackelberg A, Henn W, Gšrgens H, Boue S, Kšlble K, BŸttner R, Schackert HK.
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| Eur J Hum Genet 16(1):62-72. Epub 2007 Sep 12. 2008
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| 4 | CMMRD, MLH1, MSH2, MSH6, PMS2
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| Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg?
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| Wimmer K, Etzler J.
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| Hum Genet 124(2):105-22. Epub 2008 Aug 18. Review. 2008
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| 5 | CMMRD, MSH6
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| Hereditary cancer-associated missense mutations in hMSH6 uncouple ATP hydrolysis from DNA mismatch binding.
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| Cyr JL, Heinen CD.
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| J Biol Chem 283(46):31641-8. Epub 2008 Sep 11.
2008
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| 6 | CMMRD, MLH1, MSH2, MSH6, PMS2
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| Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies.
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| Poley JW, Wagner A, Hoogmans MM, Menko FH, Tops C, Kros JM, Reddingius RE, Meijers-Heijboer H, Kuipers EJ, Dinjens WN; Rotterdam Initiative on Gastrointestinal Hereditary Tumors.
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| Cancer 109(11):2349-56.
2007
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| 7 | CMMRD, PMS2
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| Homozygous PMS2 deletion causes a severe colorectal cancer and multiple adenoma phenotype without extraintestinal cancer.
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| Will O, Carvajal-Carmona LG, Gorman P, Howarth KM, Jones AM, Polanco-Echeverry GM, Chinaleong JA, Günther T, Silver A, Clark SK, Tomlinson I.
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| Gastroenterology 132(2):527-30. Epub 2006 Nov 29.
2007
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| 8 | CMMRD, PMS2, PMS2L1
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| Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome.
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| De Vos M, Hayward BE, Picton S, Sheridan E, Bonthron DT.
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| Am J Hum Genet 74(5):954-64. Epub 2004 Apr 7. 2004
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