Pages that link to "Q43853234"

The following pages link to PMS2 mutations in childhood cancer (Q43853234):

Displaying 35 items.

• Spectrum and risk of neoplasia in Werner syndrome: a systematic review (Q21133607) (← links)
• The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations (Q24655454) (← links)
• Childhood brain tumours due to germline bi-allelic mismatch repair gene mutations (Q34160516) (← links)
• Identification of nuclear protein targets for six leukemogenic tyrosine kinases governed by post-translational regulation (Q34321183) (← links)
• Cancer incidence among the south Asian and non-south Asian population under 30 years of age in Yorkshire, UK. (Q34344100) (← links)
• Evidence that hMLH3 functions primarily in meiosis and in hMSH2-hMSH3 mismatch repair. (Q34441207) (← links)
• Homozygous PMS2 germline mutations in two families with early-onset haematological malignancy, brain tumours, HNPCC-associated tumours, and signs of neurofibromatosis type 1. (Q34686576) (← links)
• Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg? (Q34809944) (← links)
• Increased incidence of endometrioid tumors caused by aberrations in E-cadherin promoter of mismatch repair-deficient mice. (Q35083547) (← links)
• A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome (Q35119757) (← links)
• Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination (Q36946520) (← links)
• Familial T-cell non-Hodgkin lymphoma caused by biallelic MSH2 mutations (Q37004663) (← links)
• Thyroid cancer in a patient with a germline MSH2 mutation. Case report and review of the Lynch syndrome expanding tumour spectrum (Q37326213) (← links)
• Primary immunodeficiencies associated with DNA-repair disorders (Q37713997) (← links)
• The gastrointestinal phenotype of germline biallelic mismatch repair gene mutations (Q37763509) (← links)
• Inherited Defects of Immunoglobulin Class Switch Recombination (Q37778043) (← links)
• The Diagnostic and Clinical Significance of Café-au-lait Macules (Q37796203) (← links)
• Extensive gene conversion at the PMS2 DNA mismatch repair locus (Q38305431) (← links)
• Connections between constitutional mismatch repair deficiency syndrome and neurofibromatosis type 1. (Q38806007) (← links)
• Recommendations on Surveillance and Management of Biallelic Mismatch Repair Deficiency (BMMRD) Syndrome: A Consensus Statement by the US Multi-Society Task Force on Colorectal Cancer (Q38871499) (← links)
• The E705K mutation in hPMS2 exerts recessive, not dominant, effects on mismatch repair (Q40222264) (← links)
• A homozygote splice site PMS2 mutation as cause of Turcot syndrome gives rise to two different abnormal transcripts (Q42445665) (← links)
• Muir Torre syndrome and MSH2 mutations: the importance of dermatological awareness (Q43199579) (← links)
• Simple detection of germline microsatellite instability for diagnosis of constitutional mismatch repair cancer syndrome (Q45400063) (← links)
• Germline PMS2 and somatic POLE exonuclease mutations cause hypermutability of the leading DNA strand in biallelic mismatch repair deficiency syndrome brain tumours. (Q47647485) (← links)
• Cerebral primitive neuroectodermal tumor in an adult with a heterozygous MSH2 mutation (Q47951157) (← links)
• The Changing Landscape of Lynch Syndrome due to PMS2 Mutations. (Q48332104) (← links)
• Ikaros is a mutational target for lymphomagenesis in Mlh1-deficient mice (Q50919937) (← links)
• Constitutional mismatch repair deficiency presenting in childhood as three simultaneous malignancies (Q50943353) (← links)
• 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 (Q79845333) (← links)
• Higher occurrence of childhood cancer in families with germline mutations in BRCA2, MMR and CDKN2A genes (Q81280342) (← links)
• Genetic testing of children at risk for adult onset conditions: when is testing indicated? (Q81597313) (← links)
• Diagnosis of a case of homozygous constitutional MMR-deficiency by the use of a gene-panel in a non-consanguineous family: A case report (Q89639018) (← links)
• Biochemical and structural characterization of two variants of uncertain significance in the PMS2 gene (Q91090476) (← links)
• Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenic NF1/SPRED1 variant negative children suspected of sporadic neurofibromatosis type 1 (Q98287674) (← links)