Mosaicism in Fanconi anemia: concise review and evaluation of published cases with focus on clinical course of blood count normalization

Successful engraftment of gene-corrected hematopoietic stem cells in non-conditioned patients with Fanconi anemia

(2019) Paula Río et al.   NATURE MEDICINE

Impairment of fetal hematopoietic stem cell function in the absence of Fancd2

(2017) Sakiko Suzuki et al.   EXPERIMENTAL HEMATOLOGY

Self-reverting mutations partially correct the blood phenotype in a Diamond Blackfan anemia patient

(2017) Parvathy Venugopal et al.   HAEMATOLOGICA

Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia

(2017) Roberta Bottega et al.   HAEMATOLOGICA

Cancer in the National Cancer Institute inherited bone marrow failure syndrome cohort after fifteen years of follow-up

(2017) Blanche P. Alter et al.   HAEMATOLOGICA

Self-reverting mutations partially correct the blood phenotype in a Diamond Blackfan anemia patient

(2017) Parvathy Venugopal et al.   HAEMATOLOGICA

Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia

(2017) Roberta Bottega et al.   HAEMATOLOGICA

Cancer in the National Cancer Institute inherited bone marrow failure syndrome cohort after fifteen years of follow-up

(2017) Blanche P. Alter et al.   HAEMATOLOGICA

Somatic mosaicism of an intragenic FANCB duplication in both fibroblast and peripheral blood cells observed in a Fanconi anemia patient leads to milder phenotype

(2017) Rajalakshmi S. Asur et al.   Molecular Genetics & Genomic Medicine

TGF-β Inhibition Rescues Hematopoietic Stem Cell Defects and Bone Marrow Failure in Fanconi Anemia

(2016) Haojian Zhang et al.   Cell Stem Cell

Aldehyde dehydrogenase 2 in aplastic anemia, Fanconi anemia and hematopoietic stem cells

(2016) Lauren D. Van Wassenhove et al.   MOLECULAR GENETICS AND METABOLISM

Androgen therapy in Fanconi anemia: A retrospective analysis of 30 years in Germany

(2016) Laura Paustian et al.   PEDIATRIC HEMATOLOGY AND ONCOLOGY

AluY-mediated germline deletion, duplication and somatic stem cell reversion inUBE2Tdefines a new subtype of Fanconi anemia

(2015) Elizabeth L. Virts et al.   HUMAN MOLECULAR GENETICS

Deficiency of UBE2T, the E2 Ubiquitin Ligase Necessary for FANCD2 and FANCI Ubiquitination, Causes FA-T Subtype of Fanconi Anemia

(2015) Kimberly A. Rickman et al.   Cell Reports

Comparison of Chromosome Breakage in Non-Mosaic and Mosaic Patients with Fanconi Anemia, Relatives, and Patients with Other Inherited Bone Marrow Failure Syndromes

(2014) John H. Fargo et al.   CYTOGENETIC AND GENOME RESEARCH

Fetal origins of hematopoietic failure in a murine model of Fanconi anemia

(2013) A. N. Kamimae-Lanning et al.   BLOOD

Variant ALDH2 is associated with accelerated progression of bone marrow failure in Japanese Fanconi anemia patients

(2013) A. Hira et al.   BLOOD

Revertant Somatic Mosaicism by Mitotic Recombination in Dyskeratosis Congenita

(2012) Marjolijn C.J. Jongmans et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The FA pathway counteracts oxidative stress through selective protection of antioxidant defense gene promoters

(2012) W. Du et al.   BLOOD

Molecular pathogenesis and clinical management of Fanconi anemia

(2012) Younghoon Kee et al.   JOURNAL OF CLINICAL INVESTIGATION

Chromosome fragility in patients with Fanconi anaemia: diagnostic implications and clinical impact

(2011) M. Castella et al.   JOURNAL OF MEDICAL GENETICS

Stem Cell Gene Therapy for Fanconi Anemia: Report from the 1st International Fanconi Anemia Gene Therapy Working Group Meeting

(2011) Jakub Tolar et al.   MOLECULAR THERAPY

Knockdown of Fanconi anemia genes in human embryonic stem cells reveals early developmental defects in the hematopoietic lineage

(2010) A. Tulpule et al.   BLOOD

Pathophysiology and management of inherited bone marrow failure syndromes

(2010) Akiko Shimamura et al.   BLOOD REVIEWS

Disease-corrected haematopoietic progenitors from Fanconi anaemia induced pluripotent stem cells

(2009) Ángel Raya et al.   NATURE