• A case of familial central precocious puberty caused by a novel mutation in the makorin RING finger protein 3 gene
• A child with an inherited 0.31 Mb microdeletion of chromosome 14q32.33: further delineation of a critical region for the 14q32 deletion syndrome
• A girl with cutaneous hyperpigmentation, café au lait spots and ring chromosome 15 without significant deletion
• A rare cause of temple syndrome
• Adherin: key to the cohesin ring and cornelia de Lange syndrome
• Association of microcephaly and cafe-au-lait spots in a patient with ring chromosome 12 syndrome
• Autoimmune thyroiditis in children with Turner syndrome
• Cardiovascular anomalies in patients diagnosed with a chromosome 22q11 deletion beyond 6 months of age
• Chromosomal abnormalities and epilepsy: a review for clinicians and gene hunters
• Chromosome 14 deletions, rings, and epilepsy genes: A riddle wrapped in a mystery inside an enigma
• Chromosome abnormalities in a referred population for suspected chromosomal aberrations: a report of 4117 cases
• Clinical and genetic characteristics of congenital sideroblastic anemia: comparison with myelodysplastic syndrome with ring sideroblast (MDS-RS)
• Clinical phenotype and genetic analysis of twelve children with ring chromosomes
• Colon cancer in a 14-year-old female with turner syndrome: report of a case
• Comorbidities of Rare Epilepsies: Results from the Rare Epilepsy Network
• Concurrence of ring 21 and trisomy 21 in children of normal parents
• Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22
• Cytogenetic profile of Indian patients with de novo myelodysplastic syndromes
• Cytogenetic survey of 117 Tunisian patients with de novo myelodysplastic syndrome
• De novo reciprocal translocation t(6;14)(q27;q13.3) in a child with infantile spasms
• Deletion 22q13.3 syndrome
• Detection of paternal uniparental disomy 9 in a neonate with prenatally detected mosaicism for a small supernumerary marker chromosome 9 and a supernumerary ring chromosome 9
• Detection of Y-specific sequences in 122 patients with Turner syndrome: nested PCR is not a reliable method
• Developing with ring 14 syndrome: a survey in different countries
• Developmental trends of communicative skills in children with chromosome 14 aberrations
• Donor cell-derived myelodysplastic syndrome with ring chromosome 7 after allogeneic hematopoietic stem cell transplant in 2 patients with lymphomas as primary disease
• Duplication of the Down syndrome critical region does not predict facial phenotype in a baby with a ring chromosome 21
• Dysregulation of FOXG1 by ring chromosome 14
• Electroclinical characteristics of a patient with ring chromosome 20 syndrome
• Enamel Pit Defects and Taurodontism in a Patient with Ring Chromosome 14 and 47,XXX
• Endocrine autoimmunity in Turner syndrome
• Epilepsy in a child with ring chromosome 14
• Epilepsy in chromosome aberrations
• Epilepsy in ring 14 chromosome syndrome
• Epilepsy in ring 14 syndrome: a clinical and EEG study of 22 patients
• Epilepsy in ring chromosome 14 syndrome
• Epileptic syndromes: From clinic to genetic
• Expanding the ocular phenotype of 14q terminal deletions: A novel presentation of microphthalmia and coloboma in ring 14 syndrome with associated 14q32.31 deletion and review of the literature
• Feasibility of fertility preservation in young females with Turner syndrome
• Fetuses with right aortic arch: a multicenter cohort study and meta-analysis
• First-trimester genetic diagnosis: a series of six cases
• From karyotypes to precision genomics in 9p deletion and duplication syndromes
• Further delineation of the chromosome 14q terminal deletion syndrome
• Gelastic seizures in ring chromosome 20 syndrome: a case report with video illustration
• Guideline recommendations for diagnosis and clinical management of Ring14 syndrome-first report of an ad hoc task force
• Human ring chromosome registry for cases in the Chinese population: re-emphasizing Cytogenomic and clinical heterogeneity and reviewing diagnostic and treatment strategies
• Human Ring Chromosomes - New Insights for their Clinical Significance
• Hypoventilation in REM sleep in a case of 17p11.2 deletion (Smith-Magenis syndrome)
• Increasing role of cytogenetics in pediatric practice
• Inheritance of a Ring Chromosome 21 in a Couple Undergoing In Vitro Fertilization (IVF): A Case Report
• Karyological characteristics of Down's syndrome: clinical and theoretical aspects
• Karyotypic identification of abnormal clones preceding morphological changes or occurring with no definite morphological features of myelodysplastic syndrome: a preliminary study
• Loss of <em>DMRT1</em> gene in a Mos 45,XY,-9[8]/46,XY,r(9)[29]/47,XY,+idic r(9)× 2[1]/46,XY,idic r(9)[1]/46,XY[1] female presenting with short stature
• Maternal transmission of a ring chromosome 15
• Methylation status of hypothalamic <em>Mkrn3</em> promoter across puberty
• Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome
• Mosaic ring chromosome 18, ring chromosome 18 duplication/deletion and disomy 18: perinatal findings and molecular cytogenetic characterization by fluorescence in situ hybridization and array comparative genomic hybridization
• Multimodal imaging of ring 14 syndrome associated maculopathy
• Partial epilepsy and developmental delay in infant with ring chromosome 14
• Partial epilepsy complicated by convulsive and nonconvulsive episodes of status epilepticus in a patient with ring chromosome 14 syndrome
• Patchy white matter hyperintensity in ring chromosome 18 syndrome
• Persistent Müllerian duct syndrome: A case report and review
• Phenotypic map in ring 14 syndrome
• Position effect modifying gene expression in a patient with ring chromosome 14
• Postnatal diagnosis of constitutive ring chromosome 13 using both conventional and molecular cytogenetic approaches
• Prenatal diagnosis and clinical implications of an apparently isolated right aortic arch
• Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from ring chromosome 4
• Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for r(13), monosomy 13 and idic r(13) by amniocentesis
• Real-world experience with cannabidiol as add-on treatment in drug-resistant epilepsy
• Ring 14 chromosome presenting as early-onset isolated partial epilepsy
• Ring 14 chromosome syndrome in a boy mainly manifesting as drug-resistant epilepsy
• Ring 17 syndrome: first clinical report without intellectual disability
• Ring chromosome 10: report on two patients and review of the literature
• Ring chromosome 14 complicated with complex partial seizures and hypoplastic corpus callosum
• Ring chromosome 14 syndrome presenting with intractable epilepsy: a case report
• Ring chromosome 14 syndrome: a case report
• Ring chromosome 14 syndrome: what the dentist should know to manage children with r(14) effec-tively
• Ring chromosome 14 syndrome. Report of two cases, including extended evaluation of a previously reported patient and review
• Ring chromosome 20 syndrome with intractable epilepsy
• Ring chromosome 20 syndrome without deletions of the subtelomeric and CHRNA4--KCNQ2 genes loci
• Ring chromosome formation as a novel escape mechanism in patients with inverted duplication and terminal deletion
• Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases
• Spectrum of Myelodysplastic Syndrome in Patients Evaluated for Cytopenia(s). A Report from a Reference Centre in Saudi Arabia
• Sphincterplasty for Velopharyngeal Insufficiency in the Child Without a Cleft-Palate: Etiologies and Speech Outcomes
• Status Epilepticus in Chromosomal Disorders Associated with Epilepsy: A Systematic Review
• Submicroscopic deletion in 14q32.3 through a de novo tandem translocation between 14q and 21p
• Surgical treatment of supravalvular aortic stenosis
• The clinical analysis of small supernumerary marker chromosomes in 17 children with mos 45,X/46,X,+mar karyotype
• The past, present, and future for constitutional ring chromosomes: A report of the international consortium for human ring chromosomes
• The proportion of cells with functional X disomy is associated with the severity of mental retardation in mosaic ring X Turner syndrome females
• The proportion of diploid 46,XX cells increases with time in women with Turner syndrome--a 10-year follow-up study
• The ring 14 syndrome
• The ring 14 syndrome: clinical and molecular definition
• The ring chromosome 14 syndrome
• Transcript map and comparative analysis of the 1.5-Mb commonly deleted segment of human 5q31 in malignant myeloid diseases with a del(5q)
• Turner syndrome caused by rare complex structural abnormalities involving chromosome X
• Turner's syndrome mosaicism in girls with neurodevelopmental disorders: a cohort study and hypothesis
• Turner's syndrome: cardiologic profile according to the different chromosomal patterns and long-term clinical follow-Up of 136 nonpreselected patients
• Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals