Fanconi anemia with biallelic FANCD1/BRCA2 mutations – Case report of a family with three affected children-Reference-Cited by-同舟云学术

Fanconi anemia with biallelic FANCD1/BRCA2 mutations – Case report of a family with three affected children

Published:2016-03 Issue:3 Volume:59 Page:152-157
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Svojgr Karel,Sumerauer David,Puchmajerova Alena,Vicha Ales,Hrusak Ondrej,Michalova Kyra,Malis Josef^ORCID,Smisek Petr,Kyncl Martin,Novotna Drahuse^ORCID,Machackova Eva,Jencik Jan^ORCID,Pycha Karel,Vaculik Miroslav^ORCID,Kodet Roman,Stary Jan

Funder

Ministry of Health, Czech Republic

University Hospital Motol, Prague, Czech Republic

General Teaching Hospital Prague

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference25 articles.

1. Fanconi anemia and the development of leukemia;Alter;Best. Pract. Res. Clin. Haematol.,2014

2. VACTERL-h association and fanconi anemia;Alter;Mol. Syndromol.,2013

3. Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2;Alter;J. Med. Genet.,2007

4. BRCA in breast cancer: ESMO clinical recommendations;Balmana;Ann. Oncol.,2009

5. An update on PARP inhibitors for the treatment of cancer;Benafif;Onco Targets Ther.,2015

Cited by 13 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. Longitudinal clinical manifestations of Fanconi anemia: A systematized review;Blood Reviews;2024-08

2. Complex Interplay between DNA Damage and Autophagy in Disease and Therapy;Biomolecules;2024-07-29

3. Medulloblastoma in children with Fanconi anemia: Association with FA-D1/FA-N, SHH type and poor survival independent of treatment strategies;Neuro-Oncology;2024-06-26

4. Pathological consequences of DNA damage in the kidney;Nature Reviews Nephrology;2023-01-26

5. Compound Heterozygous Variants in Pediatric Cancers: A Systematic Review;Frontiers in Genetics;2020-05-19