• 3D-FISH analysis reveals chromatid cohesion defect during interphase in Roberts syndrome
• A case of Norman-Roberts syndrome identified from postnatal diagnosis of microlissencephaly
• A Case Report of a Filipino Boy with Childhood Cataract and Clinically Diagnosed Roberts Syndrome
• A child with Roberts syndrome
• A Novel Frameshift Mutation in ESCO2 Gene in Roberts Syndrome
• A Roberts Syndrome Individual With Differential Genotoxin Sensitivity and a DNA Damage Response Defect
• A zebrafish model of Roberts syndrome reveals that Esco2 depletion interferes with development by disrupting the cell cycle
• Advancing the science of management of arrhythmic disease in children and adult congenital heart disease patients within the last 25 years
• Amyotrophic lateral sclerosis
• An ever-changing landscape in Roberts syndrome biology: Implications for macromolecular damage
• Antenatal three-dimensional sonographic features of Roberts syndrome
• Case report: The evolving phenotype of <em>ESCO2</em> spectrum disorder in a 15-year-old Malaysian child
• Chromatin determinants of the inner-centromere rely on replication factors with functions that impart cohesion
• Clinical Report: Warsaw Breakage Syndrome with small radii and fibulae
• Cohesin acetylation speeds the replication fork
• Cohesin acetyltransferase Esco2 is a cell viability factor and is required for cohesion in pericentric heterochromatin
• Cohesin acetyltransferase Esco2 regulates SAC and kinetochore functions via maintaining H4K16 acetylation during mouse oocyte meiosis
• Cohesin mediates Esco2-dependent transcriptional regulation in a zebrafish regenerating fin model of Roberts Syndrome
• Cohesin proteins promote ribosomal RNA production and protein translation in yeast and human cells
• Cohesin: functions beyond sister chromatid cohesion
• Cohesinopathies of a feather flock together
• Cohesinopathies: One ring, many obligations
• Cohesins coordinate gene transcriptions of related function within Saccharomyces cerevisiae
• Cohesion promotes nucleolar structure and function
• Complex cerebrovascular diseases in Roberts syndrome caused by novel biallelic ESCO2 variations
• Cornelia de Lange syndrome: further delineation of phenotype, cohesin biology and educational focus, 5th Biennial Scientific and Educational Symposium abstracts
• Correction to: Genetically induced redox stress occurs in a yeast model for Roberts syndrome
• Diagnostic Overlap between Fanconi Anemia and the Cohesinopathies: Roberts Syndrome and Warsaw Breakage Syndrome
• Diverse developmental disorders from the one ring: distinct molecular pathways underlie the cohesinopathies
• DNA polymerase 5 acetylation by Eso1 is essential for Schizosaccharomyces pombe viability
• Early prenatal diagnosis of skeletal anomalies
• Eco1 is important for DNA damage repair in S. cerevisiae
• Esco2 and cohesin regulate CRL4 ubiquitin ligase <em>ddb1</em> expression and thalidomide teratogenicity
• Esco2 promotes neuronal differentiation by repressing Notch signaling
• Esco2 regulates cx43 expression during skeletal regeneration in the zebrafish fin
• Establishment and characterization of Roberts syndrome and SC phocomelia model medaka (Oryzias latipes)
• Etiology and pathogenesis of the cohesinopathies
• Expanding the mutation and clinical spectrum of Roberts syndrome
• Fdo1, Fkh1, Fkh2 and the Swi6-Mbp1 MBF complex regulate Mcd1 levels to impact eco1 rad61 cell growth in Saccharomyces cerevisiae
• Fronto-Orbital Advance in a Patient With Roberts Syndrome
• G1-Cyclin2 (Cln2) promotes chromosome hypercondensation in eco1/ctf7 rad61 null cells during hyperthermic stress in Saccharomyces cerevisiae
• Genetic basis of cohesinopathies
• Genetically induced redox stress occurs in a yeast model for Roberts syndrome
• Genome stability: What we have learned from cohesinopathies
• How many roads lead to cohesinopathies?
• Hypopigmented patches in Roberts/SC phocomelia syndrome occur via aneuploidy susceptibility
• Improved transcription and translation with L-leucine stimulation of mTORC1 in Roberts syndrome
• Infant born with Robert's syndrome without prenatal care in a developing nation
• Intrapartum diagnostic of Roberts syndrome - case presentation
• Juberg-Hayward syndrome and Roberts syndrome are allelic, caused by mutations in ESCO2
• L-leucine partially rescues translational and developmental defects associated with zebrafish models of Cornelia de Lange syndrome
• Limb reduction in an Esco2 cohesinopathy mouse model is mediated by p53-dependent apoptosis and vascular disruption
• Long-term survival after corrective surgeries in two patients with severe deformities due to Roberts syndrome: A Case report and review of the literature
• Mechanisms of cohesin-mediated gene regulation and lessons learned from cohesinopathies
• Molecular Basis for Cohesin Acetylation by Establishment of Sister Chromatid Cohesion N-Acetyltransferase ESCO1
• Non-redundant roles in sister chromatid cohesion of the DNA helicase DDX11 and the SMC3 acetyl transferases ESCO1 and ESCO2
• Novel <em>STAG1</em> Frameshift Mutation in a Patient Affected by a Syndromic Form of Neurodevelopmental Disorder
• Optimization of HIV testing services in Germany using HIV indicator diseases: study protocol of the HeLP study
• Outcomes of pediatric tracheostomy after surgery for congenital heart disease: A 20-year experience
• Phenotypic Overlap of Roberts and Baller-Gerold Syndromes in Two Patients With Craniosynostosis, Limb Reductions, and <em>ESCO2</em> Mutations
• Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome
• Prenatal diagnosis of a 1.6-Mb 4p16.3 interstitial microdeletion encompassing FGFRL1 and TACC3 associated with bilateral cleft lip and palate of Wolf-Hirschhorn syndrome facial dysmorphism and short long bones
• Prenatal diagnosis of Roberts syndrome in a Chinese family based on ultrasound findings and whole exome sequencing: a case report
• Pseudo-Roberts Syndrome: An Entity or Not?
• RAD21 mutations cause a human cohesinopathy
• Report of the Phenotype of a Patient with Roberts Syndrome and a Rare ESCO2 Variant
• Retrospective Evaluation of Urological Problems in Rare Childhood Syndromes
• Ribosome biogenesis in skeletal development and the pathogenesis of skeletal disorders
• Roberts syndrome in an Indian patient with humeroradial synostosis, congenital elbow contractures and a novel homozygous splice variant in ESCO2
• Roberts Syndrome With a Bilateral Cleft Lip and Palate
• Roberts syndrome with tetraphocomelia: A case report and literature review
• Roberts syndrome: A deficit in acetylated cohesin leads to nucleolar dysfunction
• ROBERTS SYNDROME: CLINICAL AND CYTOGENETIC STUDIES IN 8 EGYPTIAN PATIENTS AND MOLECULAR STUDIES IN 4 PATIENTS WITH GENOTYPE/PHENOTYPE CORRELATION
• Roberts syndrome: facial dysmorphology in a mildly affected case
• Skeletal dysplasias: 38 prenatal cases
• Spontaneous intracranial hemorrhage and multiple intracranial aneurysms in a patient with Roberts/SC phocomelia syndrome
• Stimulation of mTORC1 with L-leucine rescues defects associated with Roberts syndrome
• Syndromes, disorders and maternal risk factors associated with neural tube defects (V)
• Systematic reduction of cohesin differentially affects chromosome segregation, condensation, and DNA repair
• Temporal Regulation of ESCO2 Degradation by the MCM Complex, the CUL4-DDB1-VPRBP Complex, and the Anaphase-Promoting Complex
• Tetra-amelia with lung hypoplasia and facial clefts, Roberts-SC syndrome: report of two cases
• The cellular phenotype of Roberts syndrome fibroblasts as revealed by ectopic expression of ESCO2
• The cohesin acetyltransferase Eco1 coordinates rDNA replication and transcription
• The earliest description of an autopsy on a case of Roberts syndrome reported in 1672: some additions
• The expanding phenotypes of cohesinopathies: one ring to rule them all!
• The expanding universe of cohesin functions: a new genome stability caretaker involved in human disease and cancer
• The importance of chromosome studies in Roberts syndrome/SC phocomelia and other cohesinopathies
• The non-redundant function of cohesin acetyltransferase Esco2: some answers and new questions
• The Roberts syndrome: a case report of an infant with valvular aortic stenosis and mutation in ESCO2
• The Roberts syndrome/SC phocomelia spectrum--a case report of an adult with review of the literature
• The role of ESCO2, SALL4 and TBX5 genes in the susceptibility to thalidomide teratogenesis
• The roles of cohesins in mitosis, meiosis, and human health and disease
• The small non-coding RNA B11 regulates multiple facets of Mycobacterium abscessus virulence
• The Use of an Inspiration-Synchronized Vibrating Mesh Nebulizer for Prolonged Inhalative Iloprost Administration in Mechanically Ventilated Patients-An In Vitro Model
• Transcriptional regulation of the human establishment of cohesion 1 homolog 2 gene
• Translational mechanisms at work in the cohesinopathies
• Unique Roberts syndrome with bilateral congenital glaucoma: A case report
• Variations in dysfunction of sister chromatid cohesion in esco2 mutant zebrafish reflect the phenotypic diversity of Roberts syndrome
• Warsaw breakage syndrome, a cohesinopathy associated with mutations in the XPD helicase family member DDX11/ChlR1
• Warsaw breakage syndrome: an etiology for congenital microcephaly and sensorineural deafness