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Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|October 1, 2021
Cancer in Children With Fanconi Anemia and Ataxia-Telangiectasia-A Nationwide Register-Based Cohort Study in GermanyChristina M Dutzmann, Claudia Spix, Isabell Popp, et al.
Human Mutation|October 8, 2005
The first missense alteration in the MCPH1 gene causes autosomal recessive microcephaly with an extremely mild cellular and clinical phenotypeMarc Trimborn, Reyk Richter, Nadine Sternberg, et al.
Breast Cancer Research and Treatment|August 2, 2011
Mutation analysis of the SLX4/FANCP gene in hereditary breast cancerRosa Landwehr, Natalia V Bogdanova, Natalia Antonenkova, et al.
The Journal of Clinical Investigation|December 12, 2024
A deep intronic mutation causes RAD50 deficiency through an unusual mechanism of distant exon activationKristine Bousset, Stefano Donega, Najim Ameziane, et al.
British Journal of Haematology|April 14, 2006
Delayed diagnosis and complications of Fanconi anaemia at advanced age--a paradigmKirsten Huck, Helmut Hanenberg, Sonja Gudowius, et al.
Familial Cancer|November 21, 2020
Infantile fibrosarcoma with TPM3-NTRK1 fusion in a boy with Bloom syndromeSue M Huson, Timo Staab, Marta Pereira, et al.
European Journal of Medical Genetics|September 7, 2011
A girl with an atypical form of ataxia telangiectasia and an additional de novo 3.14 Mb microduplication in region 19q12Oliver Bartsch, Detlev Schindler, Vera Beyer, et al.
The EMBO Journal|February 17, 2007
Histone H2AX and Fanconi anemia FANCD2 function in the same pathway to maintain chromosome stabilityMassimo Bogliolo, Alex Lyakhovich, Elsa Callén, et al.
Nucleic Acids Research|November 25, 2003
A novel approach to describe a U1 snRNA binding siteMarcel Freund, Corinna Asang, Susanne Kammler, et al.
American Journal of Human Genetics|May 5, 2009
Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorderRegina Waltes, Reinhard Kalb, Magtouf Gatei, et al.
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