Diagnostic Overlap between Fanconi Anemia and the Cohesinopathies: Roberts Syndrome and Warsaw Breakage Syndrome
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Molecular pathogenesis and clinical management of Fanconi anemiaCohesinopathies of a feather flock togetherMolecular functions and cellular roles of the ChlR1 (DDX11) helicase defective in the rare cohesinopathy Warsaw breakage syndromeDiagnosis of Fanconi Anemia: Chromosomal Breakage AnalysisThe Warsaw breakage syndrome-related protein DDX11 is required for ribosomal RNA synthesis and embryonic developmentA patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromesError-free DNA damage tolerance and sister chromatid proximity during DNA replication rely on the Polα/Primase/Ctf4 ComplexDiagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger SequencingIdentification and biochemical characterization of a novel mutation in DDX11 causing Warsaw breakage syndromeDistinct cellular phenotype linked to defective DNA interstrand crosslink repair and homologous recombinationDNA damage tolerance branches out toward sister chromatid cohesion.RecQ and Fe-S helicases have unique roles in DNA metabolism dictated by their unwinding directionality, substrate specificity, and protein interactions.Clinical Report: Warsaw Breakage Syndrome with small radii and fibulae.
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P2860
Diagnostic Overlap between Fanconi Anemia and the Cohesinopathies: Roberts Syndrome and Warsaw Breakage Syndrome
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name
Diagnostic Overlap between Fan ...... e and Warsaw Breakage Syndrome
@en
Diagnostic Overlap between Fan ...... e and Warsaw Breakage Syndrome
@nl
type
label
Diagnostic Overlap between Fan ...... e and Warsaw Breakage Syndrome
@en
Diagnostic Overlap between Fan ...... e and Warsaw Breakage Syndrome
@nl
prefLabel
Diagnostic Overlap between Fan ...... e and Warsaw Breakage Syndrome
@en
Diagnostic Overlap between Fan ...... e and Warsaw Breakage Syndrome
@nl
P2093
P2860
P356
P1433
P1476
Diagnostic Overlap between Fan ...... e and Warsaw Breakage Syndrome
@en
P2093
Anneke B Oostra
Hans Joenje
Johan P de Winter
Martin A Rooimans
Petra van der Lelij
P2860
P304
P356
10.1155/2010/565268
P577
2010-07-18T00:00:00Z