• A patient with Baller-Gerold syndrome and midline NK/T lymphoma
• A patient with Rothmund-Thomson syndrome and all features of RAPADILINO
• Absence of thumbs, A/hypoplasia of radius, hypoplasia of ulnae, retarded bone age, short stature, microcephaly, hypoplastic genitalia, and mental retardation
• Analysis of the DNA unwinding activity of RecQ family helicases
• Atypical Rothmund-Thomson syndrome in a patient with compound heterozygous mutations in RECQL4 gene and phenotypic features in RECQL4 syndromes
• Congenital Diseases of DNA Replication: Clinical Phenotypes and Molecular Mechanisms
• Disease-causing missense mutations in human DNA helicase disorders
• DNA helicases associated with genetic instability, cancer, and aging
• Drosophila RecQ4 has a 3'-5' DNA helicase activity that is essential for viability
• Human RecQ Helicases in DNA Double-Strand Break Repair
• Human RecQL4 as a Novel Molecular Target for Cancer Therapy
• Human RecQL4 helicase plays multifaceted roles in the genomic stability of normal and cancer cells
• Human syndromes with congenital patellar anomalies and the underlying gene defects
• Immunodeficiency in a Child with Rapadilino Syndrome: A Case Report and Review of the Literature
• In silico analyses of a new group of fungal and plant RecQ4-homologous proteins
• Long-term follow-up and molecular characterization of a patient with a RECQL4 mutation spectrum disorder
• Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases
• Molecular Mechanisms of the RECQ4 Pathogenic Mutations
• Mutations in conserved functional domains of human RecQ helicases are associated with diseases and cancer: A review
• Nuclear import and retention domains in the amino terminus of RECQL4
• Osteosarcoma following growth hormone therapy in recurrent acute lymphoblastic leukemia and Rapadilino syndrome
• p300-mediated acetylation of the Rothmund-Thomson-syndrome gene product RECQL4 regulates its subcellular localization
• RAPADILINO RECQL4 mutant protein lacks helicase and ATPase activity
• RAPADILINO syndrome
• RAPADILINO syndrome with radial and patellar aplasia/hypoplasia as main manifestations
• Rapadilino syndrome--a non-Finnish case
• RAPADILINO syndrome: a multiple malformation syndrome with radial and patellar aplasia
• RECQ helicase RECQL4 participates in non-homologous end joining and interacts with the Ku complex
• RecQ Helicases: Conserved Guardians of Genomic Integrity
• RECQ4 selectively recognizes Holliday junctions
• RECQL4 Regulates p53 Function In Vivo During Skeletogenesis
• RecQL4-Aurora B kinase axis is essential for cellular proliferation, cell cycle progression, and mitotic integrity
• RECQL4, mutated in the Rothmund-Thomson and RAPADILINO syndromes, interacts with ubiquitin ligases UBR1 and UBR2 of the N-end rule pathway
• Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene
• Rothmund-Thomson syndrome
• Rothmund-Thomson syndrome and RECQL4 defect: splitting and lumping
• Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes
• The DNA helicase recql4 is required for normal osteoblast expansion and osteosarcoma formation
• The Human RecQ4 Helicase Contains a Functional RecQ C-terminal Region (RQC) That Is Essential for Activity
• The molecular role of the Rothmund-Thomson-, RAPADILINO- and Baller-Gerold-gene product, RECQL4: recent progress
• The mutation spectrum in RECQL4 diseases
• The N-terminus of the human RecQL4 helicase is a homeodomain-like DNA interaction motif
• The versatile RECQL4