Phenotypic and genotypic characterisation of biallelic mismatch repair deficiency (BMMR-D) syndrome.
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How Research on Human Progeroid and Antigeroid Syndromes Can Contribute to the Longevity Dividend InitiativeHomozygous germ-line mutation of the PMS2 mismatch repair gene: a unique case report of constitutional mismatch repair deficiency (CMMRD)Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous PolyposisGermline PMS2 mutation screened by mismatch repair protein immunohistochemistry of colorectal cancer in Japan.Implementation of next generation sequencing into pediatric hematology-oncology practice: moving beyond actionable alterations.Inherited predisposition to breast and ovarian cancer in non-Jewish populations in Israel.Connections between constitutional mismatch repair deficiency syndrome and neurofibromatosis type 1.Elucidating the clinical significance of two PMS2 missense variants coexisting in a family fulfilling hereditary cancer criteria.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.Pediatric glioblastoma: a single institution experience.Metachronous T-Lymphoblastic Lymphoma and Burkitt Lymphoma in a Child With Constitutional Mismatch Repair Deficiency Syndrome.Comprehensive Analysis of Hypermutation in Human Cancer.Atypical dermal melanocytosis: a diagnostic clue in constitutional mismatch repair deficiency syndrome.Constitutional mismatch repair deficiency in a healthy child: On the spot diagnosis?Frameshift mutational target gene analysis identifies similarities and differences in constitutional mismatch repair-deficiency and Lynch syndrome.The Changing Landscape of Lynch Syndrome due to PMS2 Mutations.Recent progress in Lynch syndrome and other familial colorectal cancer syndromes.Biallelic Mismatch Repair Deficiency in an Adolescent FemaleRole of video capsule endoscopy in patients with constitutional mismatch repair deficiency (CMMRD) syndrome: report from the International CMMRD Consortium
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P2860
Phenotypic and genotypic characterisation of biallelic mismatch repair deficiency (BMMR-D) syndrome.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
Phenotypic and genotypic chara ...... deficiency (BMMR-D) syndrome.
@en
type
label
Phenotypic and genotypic chara ...... deficiency (BMMR-D) syndrome.
@en
prefLabel
Phenotypic and genotypic chara ...... deficiency (BMMR-D) syndrome.
@en
P2093
P50
P1476
Phenotypic and genotypic chara ...... deficiency (BMMR-D) syndrome.
@en
P2093
Brittany Campbell
Carol A Durno
Doua Bakry
International BMMRD Consortium
Melyssa Aronson
P304
P356
10.1016/J.EJCA.2015.02.008
P577
2015-04-13T00:00:00Z