Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome-Reference-Cited by-同舟云学术

Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome

Published:2012-06-13 Issue:1 Volume:21 Page:55-61
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Baas Annette F,Gabbett Michael,Rimac Milan,Kansikas Minttu,Raphael Martine,Nievelstein Rutger AJ,Nicholls Wayne,Offerhaus Johan,Bodmer Danielle,Wernstedt Annekatrin,Krabichler Birgit,Strasser Ulrich,Nyström Minna,Zschocke Johannes,Robertson Stephen P,van Haelst Mieke M,Wimmer Katharina

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg2012117.pdf

Reference44 articles.

1. Wimmer K, Etzler J : Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg? Hum Genet 2008; 124: 105–122.

2. Jiricny J : The multifaceted mismatch-repair system. Nat Rev Mol Cell Biol 2006; 7: 335–346.

3. Ricciardone MD, Ozcelik T, Cevher B et al. Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1. Cancer Res 1999; 59: 290–293.

4. Wang Q, Lasset C, Desseigne F et al. Neurofibromatosis and early onset of cancers in hMLH1-deficient children. Cancer Res 1999; 59: 294–297.

5. Wimmer K, Kratz CP : Constitutional mismatch repair-deficiency syndrome. Haematologica 2010; 95: 699–701.

Cited by 44 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. Intraventricular Pleomorphic Xanthoastrocytoma: A Case Report and Systemic Review;Cureus;2024-01-18

2. Hereditary syndromes in pediatric hematooncology;Pediatric pharmacology;2024-01-03

3. Constitutional mismatch repair deficiency syndrome with atypical features caused by a homozygous MLH1 missense variant (c.1918C>A, p.(Pro640Thr)): a case report;Frontiers in Oncology;2023-08-17

4. Constitutional Mismatch Repair Deficiency Syndromes, a Neurofibromatosis 1 Mimicker That Hinders Timely Management;Journal of Pediatric Hematology/Oncology;2023-02-20

5. Congenital Brain Malformations: An Integrated Diagnostic Approach;Seminars in Pediatric Neurology;2022-07