Homozygosity at variant MLH1 can lead to secondary mutation in NF1, neurofibromatosis type I and early onset leukemia-Reference-Cited by-同舟云学术

Homozygosity at variant MLH1 can lead to secondary mutation in NF1, neurofibromatosis type I and early onset leukemia

Published:2008-01 Issue:1-2 Volume:637 Page:209-214
ISSN:0027-5107
Container-title:Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis
language:en
Short-container-title:Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis

Author:

Alotaibi Hani,Ricciardone Marie D.,Ozturk Mehmet

Publisher

Elsevier BV

Subject

Health, Toxicology and Mutagenesis,Genetics,Molecular Biology

Reference17 articles.

1. A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity;Huson;J. Med. Genet.,1989

2. Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1;Ricciardone;Cancer Res.,1999

3. Neurofibromatosis and early onset of cancers in hMLH1-deficient children;Wang;Cancer Res.,1999

4. Extensive somatic microsatellite mutations in normal human tissue;Vilkki;Cancer Res.,2001

5. A homozygous germ-line mutation in the human MSH2 gene predisposes to hematological malignancy and multiple cafe-au-lait spots;Whiteside;Cancer Res.,2002

Cited by 30 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Neurofibromatosis type 1 mosaicism in patients with constitutional mismatch repair deficiency;Journal of Medical Genetics;2023-09-29

2. Clinical presentation and genetic analyses of neurofibromatosis type 1 in independent patients with monoallelic double de novo closely spaced mutations in the NF1 gene;Human Mutation;2022-06-28

3. Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants;Human Genetics;2021-12-20

4. Impacts of NF1 Gene Mutations and Genetic Modifiers in Neurofibromatosis Type 1;Frontiers in Neurology;2021-09-08

5. Genetic Factors of Non-Obstructive Azoospermia: Consequences on Patients’ and Offspring Health;Journal of Clinical Medicine;2021-09-05