| scholarly article | Q13442814 |
| P6179 | Dimensions Publication ID | 1028054523 |
| P356 | DOI | 10.1038/EJHG.2010.102 |
| P2888 | exact match | https://scigraph.springernature.com/pub.10.1038/ejhg.2010.102 |
| P932 | PMC publication ID | 2987474 |
| P698 | PubMed publication ID | 20588305 |
| P5875 | ResearchGate publication ID | 44852298 |
| P2093 | author name string | Richard E Person | |
| Bassem A Bejjani | |||
| Blake C Ballif | |||
| Lisa G Shaffer | |||
| Jill A Rosenfeld | |||
| Trilochan Sahoo | |||
| Allen N Lamb | |||
| Angela L Duker | |||
| Sarah Alliman | |||
| Erawati V Bawle | |||
| Sangeetha Mahadevan | |||
| Regina Thompson | |||
| Ryan Traylor | |||
| P2860 | cites work | Deletion of the MBII-85 snoRNA gene cluster in mice results in postnatal growth retardation | Q21092489 |
| Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome | Q21261463 | ||
| SnoRNA Snord116 (Pwcr1/MBII-85) deletion causes growth deficiency and hyperphagia in mice | Q21562297 | ||
| Small evolutionarily conserved RNA, resembling C/D box small nucleolar RNA, is transcribed from PWCR1, a novel imprinted gene in the Prader-Willi deletion region, which Is highly expressed in brain | Q24534447 | ||
| Prader-Willi syndrome is caused by disruption of the SNRPN gene | Q24540023 | ||
| Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster | Q24653893 | ||
| A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism | Q24655126 | ||
| Identification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organization | Q24673252 | ||
| A translocation breakpoint cluster disrupts the newly defined 3' end of the SNURF-SNRPN transcription unit on chromosome 15 | Q28142882 | ||
| The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A | Q28207947 | ||
| Small nucleolar RNAs: an abundant group of noncoding RNAs with diverse cellular functions | Q28217265 | ||
| Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint | Q28278808 | ||
| The snoRNA HBII-52 regulates alternative splicing of the serotonin receptor 2C | Q28287199 | ||
| Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient | Q28292519 | ||
| Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader-Willi syndrome | Q28295300 | ||
| Small Nucleolar RNAs | Q29300155 | ||
| Detailed analysis of 15q11-q14 sequence corrects errors and gaps in the public access sequence to fully reveal large segmental duplications at breakpoints for Prader-Willi, Angelman, and inv dup(15) syndromes | Q33287971 | ||
| Prader-Willi syndrome: consensus diagnostic criteria. | Q34061685 | ||
| The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria | Q34428675 | ||
| Evidence for the role of PWCR1/HBII-85 C/D box small nucleolar RNAs in Prader-Willi syndrome | Q37219174 | ||
| Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report | Q37318122 | ||
| Imprinting regulates mammalian snoRNA-encoding chromatin decondensation and neuronal nucleolar size. | Q37397396 | ||
| Balanced translocation 46,XY,t(2;15)(q37.2;q11.2) associated with atypical Prader-Willi syndrome | Q43105012 | ||
| The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain. | Q48630943 | ||
| Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlations. | Q51903311 | ||
| P433 | issue | 11 | |
| P304 | page(s) | 1196-1201 | |
| P577 | publication date | 2010-06-30 | |
| P1433 | published in | European Journal of Human Genetics | Q2155433 |
| P1476 | title | Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome | |
| P478 | volume | 18 |
| Q34980858 | 6q22.1 microdeletion and susceptibility to pediatric epilepsy. |
| Q39181769 | A Comprehensive Guide to the MAGE Family of Ubiquitin Ligases |
| Q37220678 | A Prader-Willi locus lncRNA cloud modulates diurnal genes and energy expenditure |
| Q34039999 | A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders |
| Q92283506 | A long noncoding RNA cluster-based genomic locus maintains proper development and visual function |
| Q53503134 | A model to characterize psychopathological features in adults with Prader-Willi syndrome. |
| Q50884637 | A novel rearrangement of occludin causes brain calcification and renal dysfunction. |
| Q36281600 | A vast genomic deletion in the C56BL/6 genome affects different genes within the Ifi200 cluster on chromosome 1 and mediates obesity and insulin resistance. |
| Q33563047 | Accurate, fast and cost-effective diagnostic test for monosomy 1p36 using real-time quantitative PCR. |
| Q33627621 | Adult-onset deletion of the Prader-Willi syndrome susceptibility gene Snord116 in mice results in reduced feeding and increased fat mass |
| Q34544640 | An interval of the obesity QTL Nob3.38 within a QTL hotspot on chromosome 1 modulates behavioral phenotypes |
| Q34230048 | An unexpected function of the Prader-Willi syndrome imprinting center in maternal imprinting in mice |
| Q34055216 | Apo-Ghrelin Receptor (apo-GHSR1a) Regulates Dopamine Signaling in the Brain |
| Q61808602 | Baby food and bedtime: Evidence for opposite phenotypes from different genetic and epigenetic alterations in Prader-Willi and Angelman syndromes |
| Q37900206 | Biology and applications of small nucleolar RNAs. |
| Q39179848 | Box C/D small nucleolar RNA genes and the Prader-Willi syndrome: a complex interplay |
| Q39307120 | C/D-box snoRNAs form methylating and non-methylating ribonucleoprotein complexes: Old dogs show new tricks |
| Q57796097 | Caralluma fimbriata extract activity involves the 5-HT2c receptor in PWS Snord116 deletion mouse model |
| Q39127499 | Chromosomal Microarrays: Understanding Genetics of Neurodevelopmental Disorders and Congenital Anomalies |
| Q39547521 | Chromosome 19p13.3 deletion in a child with Peutz-Jeghers syndrome, congenital heart defect, high myopia, learning difficulties and dysmorphic features: Clinical and molecular characterization of a new contiguous gene syndrome. |
| Q53599477 | Chromosome 1p36.22p36.21 duplications/triplication causes Setleis syndrome (focal facial dermal dysplasia type III). |
| Q42351562 | Clinical phenotypes of MAGEL2 mutations and deletions |
| Q88815207 | Cognitive deficits in the Snord116 deletion mouse model for Prader-Willi syndrome |
| Q33405662 | Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders |
| Q27005637 | Copy number variants in obesity-related syndromes: review and perspectives on novel molecular approaches |
| Q37545019 | Deficiency in prohormone convertase PC1 impairs prohormone processing in Prader-Willi syndrome |
| Q47414979 | Defining the impact of maternal cell contamination on the interpretation of prenatal microarray analysis |
| Q47272010 | Deletion of SNURF/SNRPN U1B and U1B* upstream exons in a child with developmental delay and excessive weight |
| Q36606299 | Deletion of the Snord116/SNORD116 Alters Sleep in Mice and Patients with Prader-Willi Syndrome |
| Q34873887 | Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes |
| Q47816511 | Diagnostic utility of microarray testing in pregnancy loss. |
| Q35617175 | Direct cloning of double-stranded RNAs from RNase protection analysis reveals processing patterns of C/D box snoRNAs and provides evidence for widespread antisense transcript expression |
| Q24622683 | Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25 |
| Q36742729 | Dual function of C/D box small nucleolar RNAs in rRNA modification and alternative pre-mRNA splicing |
| Q64990350 | Epigenetic therapy of Prader-Willi syndrome. |
| Q37249145 | Epigenetics, autism spectrum, and neurodevelopmental disorders. |
| Q41049988 | Estimates of penetrance for recurrent pathogenic copy-number variations |
| Q64086782 | 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 |
| Q36164314 | Exposure of Human Prostaspheres to Bisphenol A Epigenetically Regulates SNORD Family Noncoding RNAs via Histone Modification |
| Q35024083 | From discovery to function: the expanding roles of long noncoding RNAs in physiology and disease |
| Q55668403 | Functional Interplay between Small Non-Coding RNAs and RNA Modification in the Brain. |
| Q91902372 | Functional diversity of small nucleolar RNAs |
| Q40106100 | Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and Microcephaly |
| Q33612782 | Genetic studies in Drosophila and humans support a model for the concerted function of CISD2, PPT1 and CLN3 in disease |
| Q28074219 | Genetics of Prader-Willi syndrome and Prader-Will-Like syndrome |
| Q34156049 | Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1. |
| Q34807199 | Genomic and genetic variation in E2F transcription factor-1 in men with nonobstructive azoospermia. |
| Q92537603 | Genotype-Phenotype Relationships and Endocrine Findings in Prader-Willi Syndrome |
| Q48728317 | Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases. |
| Q58094751 | Ghrelin Receptor Agonist Rescues Excess Neonatal Mortality in a Prader-Willi Syndrome Mouse Model |
| Q36746454 | Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features |
| Q41823245 | High expression of miR-125b-2 and SNORD116 noncoding RNA clusters characterize ERG-related B cell precursor acute lymphoblastic leukemia. |
| Q41935110 | High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44. |
| Q36661705 | Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesity |
| Q34980818 | Highly restricted deletion of the SNORD116 region is implicated in Prader-Willi Syndrome |
| Q91736686 | Human SNORA31 variations impair cortical neuron-intrinsic immunity to HSV-1 and underlie herpes simplex encephalitis |
| Q34333357 | Human endogenous retroviral elements promote genome instability via non-allelic homologous recombination |
| Q36223316 | Hypothalamic expression of snoRNA Snord116 is consistent with a link to the hyperphagia and obesity symptoms of Prader-Willi syndrome |
| Q47548397 | Hypothalamic loss of Snord116 recapitulates the hyperphagia of Prader-Willi syndrome. |
| Q39017040 | Hypothalamus specific re-introduction of Snord116 into otherwise Snord116 deficient mice increased energy expenditure |
| Q42161783 | Identification of a Novel 14q13.3 Deletion Involving the SLC25A21 Gene Associated with Familial Synpolydactyly |
| Q47143372 | Impaired prohormone processing: a grand unified theory for features of Prader-Willi syndrome? |
| Q37685738 | Imprinted expression of UBE3A in non-neuronal cells from a Prader-Willi syndrome patient with an atypical deletion |
| Q64255135 | Increased brain age in adults with Prader-Willi syndrome |
| Q52935704 | Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance. |
| Q38182329 | Integrating the roles of long and small non-coding RNA in brain function and disease |
| Q34537392 | Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using synthetic probes |
| Q38177786 | Long non-coding RNAs in neurodevelopmental disorders |
| Q39387599 | Long noncoding RNA and its contribution to autism spectrum disorders. |
| Q33649809 | Long noncoding RNAs in imprinting and X chromosome inactivation |
| Q36365731 | Long noncoding RNAs: Re-writing dogmas of RNA processing and stability |
| Q48035493 | 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 |
| Q35750366 | Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature |
| Q33886396 | Massive-scale RNA-Seq analysis of non ribosomal transcriptome in human trisomy 21. |
| Q36548772 | Maternal transcription of non-protein coding RNAs from the PWS-critical region rescues growth retardation in mice. |
| Q39013230 | Mechanisms of obesity in Prader-Willi syndrome |
| Q83557743 | Microarray detection of multiple recurring submicroscopic chromosomal aberrations in pediatric T-cell acute lymphoblastic leukemia |
| Q84357243 | Microdeletion 20p12.3 involving BMP2 contributes to syndromic forms of cleft palate |
| Q52618070 | Microdeletion of Xq28 involving the AFF2 (FMR2) gene in two unrelated males with developmental delay. |
| Q39003471 | Model mice for 15q11-13 duplication syndrome exhibit late-onset obesity and altered lipid metabolism. |
| Q36851398 | Molecular characterization of a patient presumed to have prader-willi syndrome. |
| Q58488483 | Mosaic partial trisomy 19p12-q13.11 due to a small supernumerary marker chromosome: A locus associated with Asperger syndrome? |
| Q90028444 | Mutations in MAGEL2 and L1CAM Are Associated With Congenital Hypopituitarism and Arthrogryposis |
| Q37138653 | NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits |
| Q51825997 | NF1 microduplications: identification of seven nonrelated individuals provides further characterization of the phenotype. |
| Q34017758 | Necdin protects embryonic motoneurons from programmed cell death |
| Q55260533 | Neuronal differentiation induces SNORD115 expression and is accompanied by post-transcriptional changes of serotonin receptor 2c mRNA. |
| Q36433565 | Non-Coding RNAs at the Gnas and Snrpn-Ube3a Imprinted Gene Loci and Their Involvement in Hereditary Disorders |
| Q38195036 | Non-coding RNAs in chromatin disease involving neurological defects |
| Q33577889 | Noncoding RNAs in endocrine malignancy |
| Q35888754 | Novel Tandem Duplication in Exon 1 of the SNURF/SNRPN Gene in a Child with Transient Excessive Eating Behaviour and Weight Gain |
| Q57234933 | Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: Report of novel pathogenic copy number variants |
| Q37141372 | Oligonucleotide-induced alternative splicing of serotonin 2C receptor reduces food intake |
| Q34493618 | On the spot: very local chromosomal rearrangements |
| Q36695727 | PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome. |
| Q36387744 | Phenotypic heterogeneity of genomic disorders and rare copy-number variants |
| Q50100140 | Prader-Willi Syndrome and Angelman Syndrome: Visualisation of the molecular pathways for two chromosomal disorders. |
| Q42058938 | Prader-Willi Syndrome and Schaaf-Yang Syndrome: Neurodevelopmental Diseases Intersecting at the MAGEL2 Gene |
| Q47996068 | Prader-Willi syndrome and atypical submicroscopic 15q11-q13 deletions with or without imprinting defects. |
| Q51826464 | Prader-Willi syndrome. |
| Q26827423 | Prader-Willi, Angelman, and 15q11-q13 Duplication Syndromes |
| Q93006376 | Prader-Willi-Like Phenotype Caused by an Atypical 15q11.2 Microdeletion |
| Q50476176 | Prenatal detection of 10q22q23 duplications: dilemmas in phenotype prediction. |
| Q48770065 | Prenatally diagnosed 17q12 microdeletion syndrome with a novel association with congenital diaphragmatic hernia. |
| Q37068190 | Processing of snoRNAs as a new source of regulatory non-coding RNAs: snoRNA fragments form a new class of functional RNAs |
| Q33399605 | Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes |
| Q34965439 | Psychiatric illness and intellectual disability in the Prader-Willi syndrome with different molecular defects--a meta analysis. |
| Q39597984 | Pyrvinium pamoate changes alternative splicing of the serotonin receptor 2C by influencing its RNA structure |
| Q37117728 | R-loop formation at Snord116 mediates topotecan inhibition of Ube3a-antisense and allele-specific chromatin decondensation. |
| Q64249855 | RNA 2'-O-Methylation (Nm) Modification in Human Diseases |
| Q28657877 | Rapid birth-and-death evolution of imprinted snoRNAs in the Prader-Willi syndrome locus: implications for neural development in Euarchontoglires |
| Q100442181 | Re-assessment of the involvement of Snord115 in the serotonin 2C receptor pathway in a genetically relevant mouse model |
| Q36141110 | Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays |
| Q36848387 | Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats |
| Q35546481 | Refinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1. |
| Q34254472 | Refining analyses of copy number variation identifies specific genes associated with developmental delay |
| Q40550308 | Regulatory role of small nucleolar RNAs in human diseases. |
| Q41628976 | SNORD116 and SNORD115 change expression of multiple genes and modify each other's activity |
| Q48156957 | SNORD116 deletions cause Prader-Willi syndrome with a mild phenotype and macrocephaly. |
| Q92546825 | Screening for rare epigenetic variations in autism and schizophrenia |
| Q37676389 | Serum snoRNAs as biomarkers for joint ageing and post traumatic osteoarthritis |
| Q38060071 | Small regulatory RNAs controlled by genomic imprinting and their contribution to human disease |
| Q36423032 | Snord116 is critical in the regulation of food intake and body weight |
| Q55363384 | Snord116-dependent diurnal rhythm of DNA methylation in mouse cortex. |
| Q34415309 | Species-specific alternative splicing leads to unique expression of sno-lncRNAs |
| Q26783721 | Splicing noncoding RNAs from the inside out |
| Q48232096 | Targeted knockout of a chemokine-like gene increases anxiety and fear responses |
| Q38724302 | Targeting the histone methyltransferase G9a activates imprinted genes and improves survival of a mouse model of Prader-Willi syndrome |
| Q55071218 | The Emerging Field of Epitranscriptomics in Neurodevelopmental and Neuronal Disorders. |
| Q36144816 | The SNORD115 (H/MBII-52) and SNORD116 (H/MBII-85) gene clusters at the imprinted Prader-Willi locus generate canonical box C/D snoRNAs |
| Q50306612 | The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization. |
| Q39121279 | The dilemma of diagnostic testing for Prader-Willi syndrome |
| Q34352067 | The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability |
| Q35680716 | The neurobiology of mouse models syntenic to human chromosome 15q. |
| Q42826032 | The noncoding RNA IPW regulates the imprinted DLK1-DIO3 locus in an induced pluripotent stem cell model of Prader-Willi syndrome |
| Q64096957 | The role of long non-coding RNAs in the pathogenesis of hereditary diseases |
| Q91866937 | Tissue Specific Reference Genes for MicroRNA Expression Analysis in a Mouse Model of Peripheral Nerve Injury |
| Q37284354 | Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism |
| Q38364544 | Understanding the epigenetics of neurodevelopmental disorders and DOHaD. |
| Q35768415 | Unique and atypical deletions in Prader-Willi syndrome reveal distinct phenotypes |
| Q93000849 | Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes |
| Q51803633 | Whole-genome array CGH identifies pathogenic copy number variations in fetuses with major malformations and a normal karyotype. |
| Q42089130 | Xq28 (MECP2) microdeletions are common in mutation-negative females with Rett syndrome and cause mild subtypes of the disease |
| Q24339372 | ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity |
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