Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium ‘Care for CMMRD’ (C4CMMRD)
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Title
Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium ‘Care for CMMRD’ (C4CMMRD)
Authors
Keywords
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Journal
JOURNAL OF MEDICAL GENETICS
Volume 51, Issue 6, Pages 355-365
Publisher
BMJ
Online
2014-04-16
DOI
10.1136/jmedgenet-2014-102284
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Note: Only part of the references are listed.- Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium “Care for CMMR-D” (C4CMMR-D)
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- Hepatic Adenomas Caused by Somatic HNF1A Mutations in Children With Biallelic Mismatch Repair Gene Mutations
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- 2009 Version of the Chompret Criteria for Li Fraumeni Syndrome
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- Rhabdomyosarcoma in patients with constitutional mismatch-repair-deficiency syndrome
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- Compound heterozygosity for two MSH2 mutations suggests mild consequences of the initiation codon variant c.1A>G of MSH2
- (2008) Carolien M Kets et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Homozygosity of MSH2 c.1906G→C germline mutation is associated with childhood colon cancer, astrocytoma and signs of Neurofibromatosis type I
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- The Clinical Phenotype of Lynch Syndrome Due to Germ-Line PMS2 Mutations
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- Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg?
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- Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination
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- Clinical epidemiology for childhood primary central nervous system tumors
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- RNA-based mutation analysis identifies an unusual MSH6 splicing defect and circumvents PMS2 pseudogene interference
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- Multifocal anaplastic astrocytoma in a patient with hereditary colorectal cancer, transcobalamin II deficiency, agenesis of the corpus callosum, mental retardation, and inherited PMS2 mutation
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