Disease: Potocki-Lupski syndrome
- <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
- 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