(Q40146955)

English

Gastrointestinal Findings in the Largest Series of Patients With Hereditary Biallelic Mismatch Repair Deficiency Syndrome: Report from the International Consortium

scientific article published on 5 January 2016

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scholarly article

1 reference

Europe PubMed Central

17 September 2017

Gastrointestinal Findings in the Largest Series of Patients With Hereditary Biallelic Mismatch Repair Deficiency Syndrome: Report from the International Consortium (English)

1 reference

Europe PubMed Central

17 September 2017

DNA mismatch repair

1 reference

based on heuristic

inferred from title

11

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Europe PubMed Central

17 September 2017

Douglas Riegert-Johnson

25

object named as

Douglas Riegert-Johnson

0 references

32

object named as

Uri Tabori

1 reference

Europe PubMed Central

17 September 2017

15

object named as

David Malkin

0 references

Steven Gallinger

2

object named as

Steven Gallinger

1 reference

Europe PubMed Central

17 September 2017

Andrea L Rideout

21

object named as

Andrea L Rideout

1 reference

Europe PubMed Central

17 September 2017

6

object named as

Ronit Elhasid

1 reference

Europe PubMed Central

17 September 2017

5

object named as

Rina Dvir

1 reference

Europe PubMed Central

17 September 2017

author name string

Melyssa Aronson

1

1 reference

Europe PubMed Central

17 September 2017

Zane Cohen

3

1 reference

Europe PubMed Central

17 September 2017

Shlomi Cohen

4

1 reference

Europe PubMed Central

17 September 2017

Hagit N Baris

7

1 reference

Europe PubMed Central

17 September 2017

Revital Kariv

8

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Europe PubMed Central

17 September 2017

Harriet Druker

9

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Europe PubMed Central

17 September 2017

Helen Chan

10

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Europe PubMed Central

17 September 2017

Paul Kortan

12

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17 September 2017

Spring Holter

13

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Europe PubMed Central

17 September 2017

Kara Semotiuk

14

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Europe PubMed Central

17 September 2017

Roula Farah

16

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17 September 2017

Alain Sayad

17

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17 September 2017

Brandie Heald

18

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17 September 2017

Matthew F Kalady

19

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17 September 2017

Lynette S Penney

20

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17 September 2017

Mohsin Rashid

22

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17 September 2017

Linda Hasadsri

23

1 reference

Europe PubMed Central

17 September 2017

Pavel Pichurin

24

1 reference

Europe PubMed Central

17 September 2017

Douglas Riegert-Johnson

25

1 reference

Europe PubMed Central

17 September 2017

Brittany Campbell

26

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17 September 2017

Doua Bakry

27

1 reference

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17 September 2017

Hala Al-Rimawi

28

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17 September 2017

Qasim Kholaif Alharbi

29

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Musa Alharbi

30

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Ashraf Shamvil

31

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17 September 2017

Carol Durno

33

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17 September 2017

language of work or name

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publication date

5 January 2016

1 reference

Europe PubMed Central

17 September 2017

The American Journal of Gastroenterology

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Europe PubMed Central

17 September 2017

111

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17 September 2017

2

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17 September 2017

275-284

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Europe PubMed Central

17 September 2017

https://scigraph.springernature.com/pub.10.1038/ajg.2015.392

0 references

Homozygous PMS2 deletion causes a severe colorectal cancer and multiple adenoma phenotype without extraintestinal cancer.

1 reference

https://pubmed.ncbi.nlm.nih.gov/26729549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium “Care for CMMR-D” (C4CMMR-D)

1 reference

https://pubmed.ncbi.nlm.nih.gov/26729549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation.

1 reference

https://pubmed.ncbi.nlm.nih.gov/26729549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/26729549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium.

1 reference

https://pubmed.ncbi.nlm.nih.gov/26729549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg?

1 reference

https://pubmed.ncbi.nlm.nih.gov/26729549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evidence for a recessive inheritance of Turcot's syndrome caused by compound heterozygous mutations within the PMS2 gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/26729549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gastrointestinal cancers and neurofibromatosis type 1 features in children with a germline homozygous MLH1 mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/26729549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A homozygote splice site PMS2 mutation as cause of Turcot syndrome gives rise to two different abnormal transcripts

1 reference

https://pubmed.ncbi.nlm.nih.gov/26729549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Café-au-lait spots and early onset colorectal neoplasia: a variant of HNPCC?

1 reference

https://pubmed.ncbi.nlm.nih.gov/26729549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

High-grade brain tumors in siblings with biallelic MSH6 mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/26729549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Compound heterozygosity for twoMSH6 mutations in a patient with early onset colorectal cancer, vitiligo and systemic lupus erythematosus

1 reference

https://pubmed.ncbi.nlm.nih.gov/26729549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium 'care for CMMRD' (C4CMMRD).

1 reference

https://pubmed.ncbi.nlm.nih.gov/26729549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Homozygosity of MSH2 c.1906G-->C germline mutation is associated with childhood colon cancer, astrocytoma and signs of Neurofibromatosis type I.

1 reference

https://pubmed.ncbi.nlm.nih.gov/26729549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial T-cell non-Hodgkin lymphoma caused by biallelic MSH2 mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/26729549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines.

1 reference

https://pubmed.ncbi.nlm.nih.gov/26729549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The gastrointestinal phenotype of germline biallelic mismatch repair gene mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/26729549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diversity of the clinical presentation of the MMR gene biallelic mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/26729549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A homozygous MSH6 mutation in a child with café-au-lait spots, oligodendroglioma and rectal cancer

1 reference

https://pubmed.ncbi.nlm.nih.gov/26729549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/26729549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Constitutional mismatch repair deficiency presenting in childhood as three simultaneous malignancies.

1 reference

https://pubmed.ncbi.nlm.nih.gov/26729549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The molecular basis of Turcot's syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/26729549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Simultaneous colonic adenocarcinoma and medulloblastoma in a 12-year-old with biallelic deletions in PMS2.

1 reference

https://pubmed.ncbi.nlm.nih.gov/26729549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pediatric duodenal cancer and biallelic mismatch repair gene mutations.

1 reference

https://pubmed.ncbi.nlm.nih.gov/26729549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Medulloblastoma, acute myelocytic leukemia and colonic carcinomas in a child with biallelic MSH6 mutations.

1 reference

https://pubmed.ncbi.nlm.nih.gov/26729549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Compound heterozygosity for two MSH6 mutations in a patient with early onset of HNPCC-associated cancers, but without hematological malignancy and brain tumor.

1 reference

https://pubmed.ncbi.nlm.nih.gov/26729549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Homozygous PMS2 germline mutations in two families with early-onset haematological malignancy, brain tumours, HNPCC-associated tumours, and signs of neurofibromatosis type 1.

1 reference

https://pubmed.ncbi.nlm.nih.gov/26729549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two PMS2 mutations in a Turcot syndrome family with small bowel cancers.

1 reference

https://pubmed.ncbi.nlm.nih.gov/26729549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Café-au-lait macules and pediatric malignancy caused by biallelic mutations in the DNA mismatch repair (MMR) gene PMS2.

1 reference

https://pubmed.ncbi.nlm.nih.gov/26729549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/26729549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rhabdomyosarcoma in patients with constitutional mismatch-repair-deficiency syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/26729549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome.

1 reference

https://pubmed.ncbi.nlm.nih.gov/26729549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novelMSH2 germline mutation in homozygous state in two brothers with colorectal cancers diagnosed at the age of 11 and 12 years

1 reference

https://pubmed.ncbi.nlm.nih.gov/26729549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Constitutional mismatch repair deficiency and childhood leukemia/lymphoma--report on a novel biallelic MSH6 mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/26729549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Six novel heterozygous MLH1, MSH2, and MSH6 and one homozygous MLH1 germline mutations in hereditary nonpolyposis colorectal cancer

1 reference

https://pubmed.ncbi.nlm.nih.gov/26729549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Constitutional mismatch repair-deficiency syndrome presenting as colonic adenomatous polyposis: clues from the skin

1 reference

https://pubmed.ncbi.nlm.nih.gov/26729549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The gastrointestinal manifestation of constitutional mismatch repair deficiency syndrome: from a single adenoma to polyposis-like phenotype and early onset cancer.

1 reference

https://pubmed.ncbi.nlm.nih.gov/26729549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Oncologic surveillance for subjects with biallelic mismatch repair gene mutations: 10 year follow-up of a kindred.

1 reference

https://pubmed.ncbi.nlm.nih.gov/26729549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Constitutive deficiency in DNA mismatch repair

1 reference

https://pubmed.ncbi.nlm.nih.gov/26729549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multifocal anaplastic astrocytoma in a patient with hereditary colorectal cancer, transcobalamin II deficiency, agenesis of the corpus callosum, mental retardation, and inherited PMS2 mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/26729549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neurofibromatosis von Recklinghausen type I phenotype and early onset of cancers in siblings compound heterozygous for mutations in MSH6

1 reference

https://pubmed.ncbi.nlm.nih.gov/26729549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Turcot's syndrome: a diagnostic consideration in a child with primary adenocarcinoma of the colon

1 reference

https://pubmed.ncbi.nlm.nih.gov/26729549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A homozygous mutation in MSH6 causes Turcot syndrome.

1 reference

https://pubmed.ncbi.nlm.nih.gov/26729549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1038/AJG.2015.392

1 reference

Europe PubMed Central

17 September 2017

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0 references

1 reference

Europe PubMed Central

17 September 2017

ResearchGate publication ID

0 references

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