Related references
Note: Only part of the references are listed.Monosomy 21q22.11-q22.13 Presenting as a Fanconi Anemia Phenotype
Robert S. Byrd et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2011)
De Novo 21q22.1q22.2 Deletion Including RUNX1 Mimicking a Congenital Infection
Julien Thevenon et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2011)
Syndromic Mental Retardation With Thrombocytopenia Due to 21q22.11q22.12 Deletion: Report of Three Patients
Eleni Katzaki et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)
Pathophysiology and management of inherited bone marrow failure syndromes
Akiko Shimamura et al.
BLOOD REVIEWS (2010)
RAD51C: a novel cancer susceptibility gene is linked to Fanconi anemia and breast cancer
Kumar Somyajit et al.
CARCINOGENESIS (2010)
Chromosome 21 and platelets: a gene dosage effect?
J. L. Huret et al.
CLINICAL GENETICS (2010)
Monosomy 21q: two cases of del(21q) and review of the literature
J.-L. Huret et al.
CLINICAL GENETICS (2010)
Detailed molecular and clinical characterization of three patients with 21q deletions
A. Lindstrand et al.
CLINICAL GENETICS (2010)
Constitutional RUNX1 deletion presenting as non-syndromic thrombocytopenia with myelodysplasia: 21q22 ITSN1 as a candidate gene in mental retardation
Saskia van der Crabben et al.
LEUKEMIA RESEARCH (2010)
Olig1 and Olig2 triplication causes developmental brain defects in Down syndrome
Lina Chakrabarti et al.
NATURE NEUROSCIENCE (2010)
Sporadic neonatal Fanconi's anemia with VACTERL association
Nobuko Kanemoto et al.
PEDIATRICS INTERNATIONAL (2010)
How the Fanconi Anemia Pathway Guards the Genome
George-Lucian Moldovan et al.
ANNUAL REVIEW OF GENETICS (2009)
Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21
Robert Lyle et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2009)
Fanconi anemia in infancy: report of hematopoietic stem cell transplantation to a 13-month-old patient
Koichi Oshima et al.
INTERNATIONAL JOURNAL OF HEMATOLOGY (2009)
RUNX1 mutations are frequent in chronic myelomonocytic leukemia and mutations at the C-terminal region might predict acute myeloid leukemia transformation
M-C Kuo et al.
LEUKEMIA (2009)
Syndromic thrombocytopenia and predisposition to acute myelogenous leukemia caused by constitutional microdeletions on chromosome 21q
Marwan Shinawi et al.
BLOOD (2008)
Down syndrome and the genes of human chromosome 21: current knowledge and future potentials
M. Pritchard et al.
CYTOGENETIC AND GENOME RESEARCH (2008)
Clinical phenotype of germline RUNX1 haploinsufficiency:: from point mutations to large genomic deletions
Mylene Beri-Dexheimer et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2008)
Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays
Juliane Hoyer et al.
JOURNAL OF MEDICAL GENETICS (2007)
Molecular pathogenesis of Fanconi anemia: recent progress
Toshiyasu Taniguchi et al.
BLOOD (2006)
Deletion of chromosome 21 disturbs human brain morphogenesis
GM Yao et al.
GENETICS IN MEDICINE (2006)
Familial mutations of the transcription factor RUNX1 (AML1, CBFA2) predispose to acute myeloid leukemia
P Ganly et al.
LEUKEMIA & LYMPHOMA (2004)
Point mutations in the RUNX1/AML1 gene:: another actor in RUNX leukemia
M Osato
ONCOGENE (2004)
AMLI/RUNXI mutations are infrequent, but related to AML-M0, acquired trisomy 21, and leukemic transformation in pediatric hematologic malignancies
T Taketani et al.
GENES CHROMOSOMES & CANCER (2003)
Acquired FANCA dysfunction and cytogenetic instability in adult acute myelogenous leukemia
MW Lensch et al.
BLOOD (2003)
In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis
J Michaud et al.
BLOOD (2002)
Interaction of the fanconi anemia proteins and BRCA1 in a common pathway
I Garcia-Higuera et al.
MOLECULAR CELL (2001)