Turcot syndrome (disorder)

Known as: CNS tumors with Familial polyposis of the colon, MMRCS, CHILDHOOD CANCER SYNDROME 
An autosomal dominant hereditary neoplastic syndrome caused by mutations in the PMS2, MLH1, MSH2, or APC genes. There are two types described, type 1… (More)

Topic mentions per year

Topic mentions per year

1976-2017
0102019762017

Papers overview

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Highly Cited
2016
Highly Cited
2016
PURPOSE Recurrent glioblastoma multiforme (GBM) is incurable with current therapies. Biallelic mismatch repair deficiency (bMMRD… (More)
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Highly Cited
2008
Highly Cited
2008
1. Ataxia Telangiectasia (includes Ataxia Telangiectasia 12 Complementation Groups A, C, D, E, Louis–Barr Syndrome) 2. Basal Cell… (More)
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2005
2005
Heterozygous mutations in one of the DNA mismatch repair genes cause hereditary nonpolyposis colorectal cancer (MIM114500… (More)
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2005
2005
We report the clinicopathological, genetic, and immunohistochemical characterization of an atypical Turcot syndrome (TS) family… (More)
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Highly Cited
2004
Highly Cited
2004
We investigated a family with an autosomal recessive syndrome of cafe-au-lait patches and childhood malignancy, notably… (More)
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2004
2004
The MutLalpha heterodimer formed by mismatch repair (MMR) proteins MLH1 and PMS2 is a major component of the MMR complex, yet… (More)
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2003
2003
Medulloblastoma is a malignant, invasive embryonal tumour of the cerebellum which manifests preferentially in children. A subset… (More)
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Highly Cited
2000
Highly Cited
2000
The cerebellar medulloblastoma (WHO Grade IV) is a highly malignant, invasive embryonal tumor with preferential manifestation in… (More)
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2000
2000
We have identified a family afflicted over multiple generations with posterior fossa tumors of infancy, including central nervous… (More)
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1994
1994
The Turcot syndrome (TS) is a rare, probably autosomal recessive, disorder characterized by development of primary… (More)
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