Divergent epigenetic profile underlie pubertal disorders in MKRN3-associated central precocious puberty and Prader-Willi syndrome: insights from a frameshift variant.

In-depth behavioral characterization of a rat model of Schaaf-Yang syndrome.

Molecular characterization of imprinting disorders: Beckwith-Wiedemann, Silver-Russell, and Prader-Willi syndromes in Egyptian patients.

Prenatal Phenotype in a Neonate with Prader-Willi Syndrome and Literature Review.

Mixed Segmental Uniparental Disomy of Chromosome 15q11-q1 Coexists with Homozygous Variant in GNB5 Gene in Child with Prader-Willi and Lodder-Merla Syndrome.

Mom genes and dad genes: genomic imprinting in the regulation of social behaviors.

A Case of Prader-Willi Syndrome With a Deletion Including MAGEL2 , NDN , and MKRN3 , but Excluding SNRPN and SNORD116.

Uniparental disomy (UPD) exclusion in embryos following Preimplantation Genetic Testing for Structural Rearrangements (PGT-SR).

Generation of isogenic models of Angelman syndrome and Prader-Willi syndrome in CRISPR/Cas9-engineered human embryonic stem cells.

Chromosome 15q11-q13 Duplication Syndrome: A Review of the Literature and 14 New Cases.

Evaluation of an In-House Genetic Testing Method for Confirming Prader-Willi and Angelman Syndromes in Sri Lanka.

Genotype-phenotype characteristics of 57 patients with Prader-Willi syndrome: a single-center experience from Turkey.

Investigating the correlation between genotype and phenotype in Prader-Willi syndrome: a study of 45 cases from Brazil.

Genotype-phenotype correlation in Prader-Willi syndrome: A large-sample analysis in China.

Hormonal Imbalances in Prader-Willi and Schaaf-Yang Syndromes Imply the Evolution of Specific Regulation of Hypothalamic Neuroendocrine Function in Mammals.

Register-based and genetic studies of Prader-Willi syndrome show a high frequency of gonadal tumors and a possible mechanism for tumorigenesis through imprinting relaxation.

Early onset critically ill infants with Schaaf-Yang syndrome: a retrospective study from the China neonatal genomes project and literature review.

Schaaf-Yang Syndrome: Clinical Phenotype and Effects of 4 years of Growth Hormone Treatment.

Generation of an induced pluripotent stem cell line, ZIPi021-A, from fibroblasts of a Prader-Willi syndrome patient with maternal uniparental disomy (mUPD).

The Effects of 5 Years of Growth Hormone Treatment on Growth and Body Composition in Patients with Temple Syndrome.

Methylation status of hypothalamic Mkrn3 promoter across puberty.

Evidence for parent-of-origin effects in autism spectrum disorder: a narrative review.

Magel2 truncation alters select behavioral and physiological outcomes in a rat model of Schaaf-Yang syndrome.

Diagnosis of Prader-Willi syndrome and Angelman syndrome by targeted nanopore long-read sequencing.

Non-coding RNAs associated with Prader-Willi syndrome regulate transcription of neurodevelopmental genes in human induced pluripotent stem cells.

Atypical presentation of Angelman syndrome with intact expressive language due to low-level mosaicism.

Prenatal diagnosis of fetuses with region of homozygosity detected by single nucleotide polymorphism array: a retrospective cohort study.

Multi-omics analysis reveals multiple mechanisms causing Prader-Willi like syndrome in a family with a X;15 translocation.

Neurobehavioral Dimensions of Prader Willi Syndrome: Relationships Between Sleep and Psychosis-Risk Symptoms.

Prader-Willi Syndrome and PCSK1 mutation: a novel presentation of combined syndromic and monogenic obesity.

Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow.

Comparison of mouse models reveals a molecular distinction between psychotic illness in PWS and schizophrenia.

Patients with PWS and related syndromes display differentially methylated regions involved in neurodevelopmental and nutritional trajectory.

Necdin: A purposive integrator of molecular interaction networks for mammalian neuron vitality.

The Cost of Raising Individuals with Fragile X or Chromosome 15 Imprinting Disorders in Australia.

The N-terminal domain of the Schaaf-Yang syndrome protein MAGEL2 likely has a role in RNA metabolism.

[Prader-Willi and Angelman syndromes: case series diagnosed by MS-MLPA assay].

The Diagnostic Journey of a Patient with Prader-Willi-Like Syndrome and a Unique Homozygous SNURF-SNRPN Variant; Bio-Molecular Analysis and Review of the Literature.

Phenotypic spectrum and mechanism analysis of Schaff Yang syndrome: A case report on new mutation of MAGEL2 gene.

Mosaic de novo SNRPN gene variant associated with Prader-Willi syndrome.

A Novel Mutation in the Myosin Binding Protein C Gene in a Prader-Willi Syndrome Pedigree.

A Streamlined Approach to Prader-Willi and Angelman Syndrome Molecular Diagnostics.

UPD(14)mat and UPD(14)mat in concomitance with mosaic small supernumerary marker chromosome 14 in two new patients with Temple syndrome.

Hypogonadism in Patients with Prader Willi Syndrome: A Narrative Review.

Refining the Behavioral Phenotype of Angelman Syndrome: Examining Differences in Motivation for Social Contact Between Genetic Subgroups.

Temple syndrome resulting from uniparental disomy is undiagnosed by a methylation assay due to low-level mosaicism for trisomy 14.

Diagnosis of Schaaf-Yang syndrome in Korean children with developmental delay and hypotonia.

Genetic Subtype-Phenotype Analysis of Growth Hormone Treatment on Psychiatric Behavior in Prader-Willi Syndrome.

Prenatal diagnosis of Prader-Willi syndrome due to uniparental disomy with NIPS: Case report and literature review.

Congenital ichthyosis in Prader-Willi syndrome associated with maternal chromosome 15 uniparental disomy: Case report and review of autosomal recessive conditions unmasked by UPD.

Two mouse models carrying truncating mutations in Magel2 show distinct phenotypes.

[Application of various genetic techniques for the diagnosis of Prader-Willi syndrome].

GENETICS IN ENDOCRINOLOGY: Genetic etiologies of central precocious puberty and the role of imprinted genes.

The necdin interactome: evaluating the effects of amino acid substitutions and cell stress using proximity-dependent biotinylation (BioID) and mass spectrometry.

Heterozygous Deletions in MKRN3 Cause Central Precocious Puberty Without Prader-Willi Syndrome.

Association of congenital cardiovascular malformation and neuropsychiatric phenotypes with 15q11.2 (BP1-BP2) deletion in the UK Biobank.

CRISPR/Cas9 Epigenome Editing Potential for Rare Imprinting Diseases: A Review.

Clinical Observations and Treatment Approaches for Scoliosis in Prader-Willi Syndrome.

Perinatal features of Prader-Willi syndrome: a Chinese cohort of 134 patients.

Genotype-Phenotype Relationships and Endocrine Findings in Prader-Willi Syndrome.

Nutrition Assessment and Intervention in a Pediatric Patient with Angelman Syndrome: A Case Presentation Highlighting Clinical Challenges and Evidence-Based Solutions.

Molecular subtype and growth hormone effects on dysmorphology in Prader-Willi syndrome.

Generation of patient-specific induced pluripotent stem cells (KSCBi007-A) derived from a patient with Prader-Willi syndrome retain maternal uniparental disomy (UPD).

Chinese Siblings with Prader-Willi Syndrome Inherited from Their Paternal Grandmother.

Chromosomal Aberrations with Endocrine Relevance (Turner Syndrome, Klinefelter Syndrome, Prader-Willi Syndrome).

Mutations in MAGEL2 and L1CAM Are Associated With Congenital Hypopituitarism and Arthrogryposis.

Preserved expressive language as a phenotypic determinant of Mosaic Angelman Syndrome.

[Epigenomic variations manifesting as a loss of heterozygosity affecting imprinted genes represent a molecular mechanism of autism spectrum disorders and intellectual disability in children].

Impact of genetic subtypes of Prader-Willi syndrome with growth hormone therapy on intelligence and body mass index.

Analysis of the GCG repeat length in NIPA1 gene in C9orf72-mediated ALS in a large Italian ALS cohort.

Prader-Willi syndrome imprinting centre deletion mice have impaired baseline and 5-HT2CR-mediated response inhibition.

Translocation breakpoint disrupting the host SNHG14 gene but not coding genes or snoRNAs in typical Prader-Willi syndrome.

Genetic testing for Prader-Willi syndrome and Angelman syndrome in the clinical practice of Guangdong Province, China.

Exploring the unique function of imprinting control centers in the PWS/AS-responsible region: finding from array-based methylation analysis in cases with variously sized microdeletions.

Analysis of the Prader-Willi syndrome imprinting center using droplet digital PCR and next-generation whole-exome sequencing.

Single-nucleotide polymorphism-based chromosomal microarray analysis provides clues and insights into disease mechanisms.

A Novel Mutation of MAGEL2 in a Patient with Schaaf-Yang Syndrome and Hypopituitarism.

Schaaf-Yang syndrome overview: Report of 78 individuals.

A mouse model of Angelman syndrome imprinting defects.

Prader-Willi locus Snord116 RNA processing requires an active endogenous allele and neuron-specific splicing by Rbfox3/NeuN.

Cognitive deficits in the Snord116 deletion mouse model for Prader-Willi syndrome.

Molecular genetic classification in Prader-Willi syndrome: a multisite cohort study.

Snord116-dependent diurnal rhythm of DNA methylation in mouse cortex.

Comparison of perinatal factors in deletion versus uniparental disomy in Prader-Willi syndrome.

Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome.

Hormonal, metabolic and skeletal phenotype of Schaaf-Yang syndrome: a comparison to Prader-Willi syndrome.

Three siblings with Prader-Willi syndrome caused by imprinting center microdeletions and review.

Brain-stem serotonin transporter availability in maternal uniparental disomy and deletion Prader-Willi syndrome.

[Variation analysis of the number of copies and methylene patterns in region 15q11-q13].

Temple syndrome as a differential diagnosis to Prader-Willi syndrome: Identifying three new patients.

Prader-Willi syndrome genetic subtypes and clinical neuropsychiatric diagnoses in residential care adults.

Loss of the imprinted, non-coding Snord116 gene cluster in the interval deleted in the Prader Willi syndrome results in murine neuronal and endocrine pancreatic developmental phenotypes.

Assessing the Clinical Utility of SNP Microarray for Prader-Willi Syndrome due to Uniparental Disomy.

Uniparental Disomy of Chromosome 15 in Two Cases by Chromosome Microarray: A Lesson Worth Thinking.

Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients.

Cellular and disease functions of the Prader-Willi Syndrome gene MAGEL2.

A novel deletion of SNURF/SNRPN exon 1 in a patient with Prader-Willi-like phenotype.

Clinical and genetic aspects of the 15q11.2 BP1-BP2 microdeletion disorder.

A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes.

SNORD116 deletions cause Prader-Willi syndrome with a mild phenotype and macrocephaly.

Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.

Beyond Epilepsy and Autism: Disruption of GABRB3 Causes Ocular Hypopigmentation.

Changeability of the fully methylated status of the 15q11.2 region in induced pluripotent stem cells derived from a patient with Prader-Willi syndrome.

Unusual Processing Generates SPA LncRNAs that Sequester Multiple RNA Binding Proteins.

SPArking Interest in the Long Noncoding RNA World: A New Class of 5' SnoRNA-Stabilized LncRNA that Influences Alternative Splicing.

Paradoxical leanness in the imprinting-centre deletion mouse model for Prader-Willi syndrome.

Prader-Willi syndrome and atypical submicroscopic 15q11-q13 deletions with or without imprinting defects.

Deletion of SNURF/SNRPN U1B and U1B* upstream exons in a child with developmental delay and excessive weight.

DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome.

The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families.

Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders.

Prader-Willi Syndrome: The Disease that Opened up Epigenomic-Based Preemptive Medicine.

Temple syndrome: A patient with maternal hetero-UPD14, mixed iso- and hetero-disomy detected by SNP microarray typing of patient-father duos.

Clinical Application of an Innovative Multiplex-Fluorescent-Labeled STRs Assay for Prader-Willi Syndrome and Angelman Syndrome.

Prader-Willi Critical Region, a Non-Translated, Imprinted Central Regulator of Bone Mass: Possible Role in Skeletal Abnormalities in Prader-Willi Syndrome.

Epigenetic regulation of UBE3A and roles in human neurodevelopmental disorders.

A case of familial central precocious puberty caused by a novel mutation in the makorin RING finger protein 3 gene.

Deletion of the Snord116/SNORD116 Alters Sleep in Mice and Patients with Prader-Willi Syndrome.

Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis.

Comparative molecular approaches in Prader-Willi syndrome diagnosis.

Autism spectrum disorder in Prader-Willi syndrome: A systematic review.

Rapid Diagnosis of Imprinting Disorders Involving Copy Number Variation and Uniparental Disomy Using Genome-Wide SNP Microarrays.

A girl with incomplete Prader-Willi syndrome and negative MS-PCR, found to have mosaic maternal UPD-15 at SNP array.

Prader-Willi, Angelman, and 15q11-q13 Duplication Syndromes.

A new pathway in the control of the initiation of puberty: the MKRN3 gene.

Common genetic and epigenetic syndromes.

Phenotype of a child with Angelman syndrome born to a woman with Prader-Willi syndrome.

Are Angelman and Prader-Willi syndromes more similar than we thought? Food-related behavior problems in Angelman, Cornelia de Lange, fragile X, Prader-Willi and 1p36 deletion syndromes.