• <em>RAI1</em> Overexpression Promotes Altered Circadian Gene Expression and Dyssomnia in Potocki-Lupski Syndrome
• 17p11.2 and Xq28 duplication detected in a girl diagnosed with Potocki-Lupski syndrome
• A boy with abdominal pain and a hypertympanic abdomen
• A duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and men
• A functional role for structural variation in metabolism
• A New Patient with Potocki-Lupski Syndrome: A Literature Review
• A unique Smith-Magenis patient with a de novo intragenic deletion on the maternally inherited overexpressed RAI1 allele
• Abnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski syndrome
• An interaction-based model for neuropsychiatric features of copy-number variants
• An Update on Common Chromosome Microdeletion and Microduplication Syndromes
• Anesthesia in a Patient with Potocki-Lupski Syndrome
• Anesthesia in Potocki-Lupski syndrome
• Arnold-Chiari type 1 malformation in Potocki-Lupski syndrome
• Array-based comparative genomic hybridization in 190 Korean patients with developmental delay and/or intellectual disability: a single tertiary care university center study
• Cardiovascular findings in duplication 17p11.2 syndrome
• Case Report: Potocki-Lupski Syndrome in Five Siblings
• Case report: Spinal anesthesia for cesarean section in a parturient with Potocki-Lupski syndrome
• Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype
• Circadian abnormalities in mouse models of Smith-Magenis syndrome: evidence for involvement of RAI1
• Clinical and cytogenetic features of a Potocki-Lupski syndrome with the shortest 0.25Mb microduplication in 17p11.2 including RAI1
• CNV and nervous system diseases--what's new?
• Cognitive and behavioral characterization of the Potocki-Lupski syndrome (duplication 17p11.2)
• Copy number loss upstream of RAI1 uncovers gene expression regulatory region that may impact Potocki-Lupski syndrome diagnosis
• Copy number variations of chromosome 17p11.2 region in children with development delay and in fetuses with abnormal imaging findings
• Correct developmental expression level of Rai1 in forebrain neurons is required for control of body weight, activity levels and learning and memory
• Cytogenetics and holoprosencephaly: A chromosomal microarray study of 222 individuals with holoprosencephaly
• De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome
• De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder
• Definition of a critical genetic interval related to kidney abnormalities in the Potocki-Lupski syndrome
• Dental findings and intravenous sedation in a patient with Potocki-Lupski syndrome: A case report
• Derivation of induced pluripotent stem cells from one child suffering Potocki-Lupski syndrome
• Does the Potocki-Lupski Syndrome Convey the Autism Spectrum Disorder Phenotype? Case Report and Scoping Review
• Duplication 17p11.2 (Potocki-Lupski Syndrome) in a child with developmental delay
• Enriched rearing improves behavioral responses of an animal model for CNV-based autistic-like traits
• Evidence for genetic regulation of mRNA expression of the dosage-sensitive gene retinoic acid induced-1 (RAI1) in human brain
• Expression in the human brain of retinoic acid induced 1, a protein associated with neurobehavioural disorders
• Family case of Potocki-Lupski syndrome
• Frequency of nonallelic homologous recombination is correlated with length of homology: evidence that ectopic synapsis precedes ectopic crossing-over
• High resolution SNP based microarray mapping of mosaic supernumerary marker chromosomes 13 and 17: delineating novel loci for apraxia
• Human Genetics of Ventricular Septal Defect
• Identification of two independent nucleosome-binding domains in the transcriptional co-activator SPBP
• Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS
• Inherited dup(17)(p11.2p11.2): expanding the phenotype of the Potocki-Lupski syndrome
• Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2
• MICRODUPLICATION OF 17p[DUP(17)(12p11.2)]: REPORT OF A NEONATE WITH A SPINA BIFIDA AND CARDIAC ANOMALIES AND A LITERATURE REVIEW
• Mouse models of genomic syndromes as tools for understanding the basis of complex traits: an example with the smith-magenis and the potocki-lupski syndromes
• Multiethnic Meta-Analysis Identifies RAI1 as a Possible Obstructive Sleep Apnea-related Quantitative Trait Locus in Men
• Neurodevelopmental Disorders Associated with Abnormal Gene Dosage: Smith-Magenis and Potocki-Lupski Syndromes
• Neurological phenotype of Potocki-Lupski syndrome
• Non-invasive prenatal testing leading to a maternal diagnosis of Charcot-Marie-Tooth neuropathy
• Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome
• Objective measures of sleep disturbances in children with Potocki-Lupski syndrome
• Opposing phenotypes in mice with Smith-Magenis deletion and Potocki-Lupski duplication syndromes suggest gene dosage effects on fluid consumption behavior
• PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations
• Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models
• Potocki-Lupski Syndrome
• Potocki-Lupski Syndrome Dup17p11.2 in a Girl with Hypotonia and Early Behavioural Disturbances
• Potocki-Lupski syndrome in conjunction with bilateral clubfoot
• Potocki-Lupski Syndrome in Ethiopian Child: A Case Report
• Potocki-Lupski syndrome mimicking a connective tissue disorder
• Potocki-Lupski syndrome with teratologic dislocation of the hip: a case report
• Potocki-Lupski syndrome: a microduplication syndrome associated with oropharyngeal dysphagia and failure to thrive
• Potocki-Lupski syndrome: an inherited dup(17)(p11.2p11.2) with hypoplastic left heart
• Prenatal Diagnosis of 17p11.2 Copy Number Abnormalities Associated With Smith-Magenis and Potocki-Lupski Syndromes in Fetuses
• Prenatal diagnosis of Potocki-Lupski syndrome in a fetus with hypoplastic left heart and aberrant right subclavian artery
• Prenatal diagnosis of the duplication 17p11.2 associated with Potocki-Lupski syndrome in a foetus presenting with mildly dysmorphic features
• Prenatal genetic diagnosis using microarray analysis in fetuses with congenital heart defects
• Quality of life in patients with Charcot-Marie-Tooth disease type 1A
• Rai1 deficiency in mice causes learning impairment and motor dysfunction, whereas Rai1 heterozygous mice display minimal behavioral phenotypes
• RAI1 Overexpression Promotes Altered Circadian Gene Expression and Dyssomnia in Potocki-Lupski Syndrome
• Rapid and inexpensive screening of genomic copy number variations using a novel quantitative fluorescent PCR method
• Reciprocal deletion and duplication of 17p11.2-11.2: Korean patients with Smith-Magenis syndrome and Potocki-Lupski syndrome
• Replicative mechanisms of CNV formation preferentially occur as intrachromosomal events: evidence from Potocki-Lupski duplication syndrome
• Retinoic Acid Induced 1, RAI1: A Dosage Sensitive Gene Related to Neurobehavioral Alterations Including Autistic Behavior
• Searching for Potocki-Lupski syndrome phenotype: a patient with language impairment and no autism
• Short stature and growth hormone deficiency in a subset of patients with Potocki-Lupski syndrome: Expanding the phenotype of PTLS
• Stimulant and Antipsychotic Use for Symptom Management of a Patient With Potocki Lupski Syndrome: Case Report
• Stress and well-being among parents of children with Potocki-Lupski syndrome
• SurVIndel: improving CNV calling from high-throughput sequencing data through statistical testing
• Targeted capture enrichment assay for non-invasive prenatal testing of large and small size sub-chromosomal deletions and duplications
• The behavioural phenotype of Potocki-Lupski syndrome: a cross-syndrome comparison
• The severe end of the spectrum: Hypoplastic left heart in Potocki-Lupski syndrome
• Unusual de novo Partial Trisomy 17p12p11.2 due to Unbalanced Insertion into 5p13.1 in a Severely Affected Boy
• Yin-yang actions of histone methylation regulatory complexes in the brain