• (18)F-FDG PET Identifies Altered Brain Metabolism in Patients with Cri du Chat Syndrome
• ¹⁸F-FDG PET Identifies Altered Brain Metabolism in Patients with Cri du Chat Syndrome
• 18F-FDG PET brain findings in disease-discordant monozygotic mosaic twins with Cri du Chat (5p-) syndrome
• 50 Years Ago in TheJournalofPediatrics: Wolf-Hirschorn Versus Cri-du-Chat Syndrome
• 5p deletion with congenital diaphragmatic hernia: a case report
• A child with autism, behavioral issues, and dysmorphic features found to have a tandem duplication within CTNND2 by mate-pair sequencing
• A pediatric BAL case with double Ph chromosomes and trisomy 5
• Age-related Behavioural Change in Cornelia de Lange and Cri du Chat Syndromes: A Seven Year Follow-up Study
• Algorithm for the diagnosis of patients with neurodevelopmental disorders and suspicion of a genetic syndrome
• Ambiguous Genitalia: An Unexpected Diagnosis in a Newborn
• An adult female with 5q34-q35.2 deletion: A rare syndromic presentation of left ventricular non-compaction and congenital heart disease
• An uninformative NIPT as an early indicator of cri-du-chat due to a chromosomal 5;18 translocation-An atypical presentation of a rare cytogenetic phenomenon
• Application analysis of noninvasive prenatal testing for fetal chromosome copy number variations in Chinese laboratories
• Application of chromosomal microarray analysis in the diagnosis of genetic etiology of spontaneous abortions
• BACs-on-Beads Assay for the Prenatal Diagnosis of Microdeletion and Microduplication Syndromes
• Brain MRI Findings of the Cri-Du-Chat Syndrome: A Case Report and Summary
• Breakpoint delineation in 5p- patients leads to new insights about microcephaly and the typical high-pitched cry
• Candidate Genes Associated With Neurological Findings in a Patient With Trisomy 4p16.3 and Monosomy 5p15.2
• Children and adults affected by Cri du Chat syndrome: Care's recommendations
• Clinical and genetic analysis of a rare case with mosaic partial trisomy 5p syndrome
• Clinical and molecular characterization of 12 prenatal cases of Cri-du-chat syndrome
• Clinical utility of noninvasive prenatal screening for expanded chromosome disease syndromes
• Cognitive-Behavioral Profile in Pediatric Patients with Syndrome 5p-; Genotype-Phenotype Correlationships
• Coincidence of 3-methylglutaconic aciduria and duplication 5q - a case report and literature review
• Commentary on "Feasibility and Reliability of Functional Mobility Measures in Children With Cri du Chat (5P-) Syndrome"
• Comorbidity landscape of the Danish patient population affected by chromosome abnormalities
• Constitutional chromosomal anomalies in children, fetal alcohol syndrome, and maternal toxicant exposures: A longitudinal cohort study
• Cri Du Chat Syndrome
• Cri Du Chat Syndrome
• Cri du chat syndrome patients have DNA methylation changes in genes linked to symptoms of the disease
• Cri-Du-Chat Syndrome - A Rare Case Report
• Cri-Du-Chat Syndrome Associated With Meningomyelocele: A Case Report
• Cri-du-Chat Syndrome: Revealing a Familial Atypical Deletion in 5p
• Deep Phenotyping and Genetic Characterization of a Cohort of 70 Individuals With 5p Minus Syndrome
• Delta-Catenin as a Modulator of Rho GTPases in Neurons
• Differences in DNA methylation status explain phenotypic variability in patients with 5p- syndrome
• Difficult intubation caused by an immature upper airway in a patient with cri-du-chat syndrome: a case report
• Do microdeletions lead to immune deficiency?
• Ebstein anomaly associated with cri du chat (cat's cry) syndrome and 20q duplication
• Efficiency of expanded noninvasive prenatal testing in the detection of fetal subchromosomal microdeletion and microduplication in a cohort of 31,256 single pregnancies
• Emerging Verbal Functions in Early Infancy: Lessons from Observational and Computational Approaches on Typical Development and Neurodevelopmental Disorders
• Esophageal Cancer with Early Onset in a Patient with Cri du Chat Syndrome
• Evaluation of noninvasive prenatal screening for copy number variations among screening laboratories
• Evaluation of the Sleep Profile in Children With Cri du Chat Syndrome: A Pilot Study
• Evolving therapies for lower-risk myelodysplastic syndromes
• Feasibility and Reliability of Functional Mobility Measures in Children With Cri du Chat (5P-) Syndrome
• Generation of induced pluripotent stem cells (iPSCs) from patient with Cri du Chat Syndrome
• Genetic developmental disability diagnosed in adulthood: a case report
• Human Genetics of Tetralogy of Fallot and Double-Outlet Right Ventricle
• Human Genetics of Ventricular Septal Defect
• Human OTULIN haploinsufficiency impairs cell-intrinsic immunity to staphylococcal α-toxin
• Improved memory and reduced anxiety in δ-catenin transgenic mice
• Integrated analysis of the critical region 5p15.3-p15.2 associated with cri-du-chat syndrome
• Is 5q deletion in de novo Acute Myelogenous Leukemia (AML) with excess blasts a surrogate marker for the cryptic t(7;21)(p22;q22)? A case report and review of literature
• Lexical and gestural development in 5p deletion syndrome-A case report
• Listen to Your Patients: A Diagnostic Clue
• Long-Term Follow-Up on Bilateral Posterior Hypothalamic Deep Brain Stimulation for Treating Refractory Aggressive Behavior in a Patient with Cri du Chat Syndrome: Analysis of Clinical Data, Intraoperative Microdialysis, and Imaging Connectomics
• Loss of <em>ctnnd2b</em> affects neuronal differentiation and behavior in zebrafish
• Management of Self-injurious Behaviors in Children with Neurodevelopmental Disorders: A Pharmacotherapy Overview
• Metabolic profiling of organic acids in urine samples of Cri Du Chat syndrome individuals by gas chromatography-mass spectrometry
• Midterm results of arch augmentation with autologous vascular patch in interrupted aortic arch
• Molecular cytogenetic characterization of distal 5p deletion syndrome in a fetus with a de novo aberrant chromosome 5 at prenatal diagnosis
• Myelodysplastic syndromes in a pediatric patient with Cri du Chat syndrome with a ring chromosome 5
• Neonatal Cri du chat syndrome with atypical facial appearance: A case report
• Neonatal cri-du-chat syndrome revelead by facial dysmorphism and weak suction: a case report
• Neuronal inclusions and alpha-Synucleinopathy in a patient with 5p deletion syndrome
• Neuronal inclusions and α-Synucleinopathy in a patient with 5p deletion syndrome
• Non-invasive prenatal testing (NIPT) by low coverage genomic sequencing: Detection limits of screened chromosomal microdeletions
• Novel rearrangements between different chromosomes with direct impact on the diagnosis of 5p- syndrome
• Partial trisomy 4q and monosomy 5p inherited from a maternal translocationt(4;5)(q33; p15) in three adverse pregnancies
• Perioperative Care of a Child With Cri Du Chat Syndrome
• Prenatal and Postnatal Diagnosis and Genetic Background of Corpus Callosum Malformations and Neonatal Follow-Up
• Prenatal diagnosis and molecular cytogenetic characterization of de novo distal 5p deletion and distal 22q duplication
• Prenatal diagnosis for a fetus with 5p deletion syndrome
• Prenatal Diagnosis of 5p Deletion Syndrome with Brain Abnormalities by Ultrasonography and Fetal Magnetic Resonance Imaging: A Case Report
• Prenatal diagnosis of 5p deletion syndrome: Report of five cases
• Prenatal diagnosis of cri-du-chat syndrome by SNP array: report of twelve cases and review of the literature
• Prenatal diagnosis of Cri-du-Chat syndrome with concomitant distal trisomy 10q syndrome in one fetus with ultrasound anomalies
• Prenatal diagnosis of distal 5p deletion syndrome associated with an abnormal first-trimester maternal serum screening result
• Prenatal Diagnosis of Fetal Trisomy 5 Mosaicism with Congenital Pulmonary Airway Malformation Type 3: A Case Report
• Prenatal diagnosis of maternal uniparental disomy 5 by amniocentesis associated with confined placental mosaicism for trisomy 5 and fetal trisomy 21 in a pregnancy
• Prenatal diagnosis of mosaicism for a distal 5p deletion in a single colony at amniocentesis in a pregnancy with a favorable outcome and a review of mosaic distal 5p deletion
• Prenatal Sonographic Features of Cri-du-Chat Syndrome: A Case Report and Analytical Literature Review
• Profiles of autism characteristics in thirteen genetic syndromes: a machine learning approach
• Quantitative evaluation of treatment response to lenalidomide by applying fluorescence in situ hybridization for peripheral blood granulocytes in a patient with 5q- syndrome
• Rapid prenatal aneuploidy detection of BACs-on-Beads assay in 4961 cases of amniotic fluid samples
• Retinopathy in a Full-Term Infant with Cri-du-Chat Syndrome
• Sella turcica morphology in patients with genetic syndromes: A systematic review
• Severity Scoring Cutoff for MLPA and Its Diagnostic Yield in 332 North Indian Children with Developmental Delay
• Skin picking disorder in 97 Italian and Spanish Cri du chat patients
• Social Economic Costs, Health-Related Quality of Life and Disability in Patients with Cri Du Chat Syndrome
• Structural brain anomalies in Cri-du-Chat syndrome: MRI findings in 14 patients and possible genotype-phenotype correlations
• Targeted analysis reveals alteration in pathway in 5p minus individuals
• The current and future applications of <em>in situ</em> hybridization technologies in anatomical pathology
• The E3 ubiquitin ligase MARCHF6 as a metabolic integrator in cholesterol synthesis and beyond
• The first case of Cri du Chat syndrome with dystonia
• The general movements assessment and effects of an early intervention in an infant with Cri du chat syndrome: a case report
• The relationship between vocabulary and grammar in two children with 5p deletion syndrome
• Three Offspring with Cri-du-Chat Syndrome from Phenotypically Normal Parents
• Tubo-ovarian abscess in a patient with cri du chat syndrome: A case report