scholarly article | Q13442814 |
P6179 | Dimensions Publication ID | 1023472131 |
P356 | DOI | 10.1038/NG0294-163 |
P3181 | OpenCitations bibliographic resource ID | 3016301 |
P698 | PubMed publication ID | 7512861 |
P2093 | author name string | M L Reed | |
S E Leff | |||
P2860 | cites work | Parental imprinting of the mouse H19 gene | Q22122365 |
Constitutional relaxation of insulin-like growth factor II gene imprinting associated with Wilms' tumour and gigantism | Q24337027 | ||
A comparison of snRNP-associated Sm-autoantigens: human N, rat N and human B/B' | Q24606172 | ||
DNA sequencing with Thermus aquaticus DNA polymerase and direct sequencing of polymerase chain reaction-amplified DNA | Q24643021 | ||
Monoallelic expression of the human H19 gene | Q28184725 | ||
Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region | Q28208127 | ||
Expression of the SmN splicing protein is developmentally regulated in the rodent brain but not in the rodent heart | Q28576021 | ||
Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion | Q34461093 | ||
Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome. | Q34680586 | ||
Deletions of chromosome 15 as a cause of the Prader-Willi syndrome | Q34718526 | ||
The mouse insulin-like growth factor type-2 receptor is imprinted and closely linked to the Tme locus | Q34776140 | ||
Cell biology of the snRNP particles | Q37851311 | ||
Allele-specific replication timing of imprinted gene regions | Q41541045 | ||
Maternal imprinting of the mouse Snrpn gene and conserved linkage homology with the human Prader-Willi syndrome region | Q44185908 | ||
A cluster of three GABAA receptor subunit genes is deleted in a neurological mutant of the mouse p locus. | Q48246711 | ||
Relaxation of imprinted genes in human cancer. | Q52545355 | ||
Parental imprinting of the mouse insulin-like growth factor II gene. | Q55052428 | ||
The trimethylguanosine cap structure of U1 snRNA is a component of a bipartite nuclear targeting signal | Q57378192 | ||
Comparison of the 15q deletions in Prader-Willi and Angelman syndromes: Specific regions, extent of deletions, parental origin, and clinical consequences | Q57386849 | ||
Genetic analysis of genomic imprinting: An Imprintor-1 gene controls inactivation of the paternal copy of the mouse Tme locus | Q57406125 | ||
The insulin–like growth factor type–2 receptor gene is imprinted in the mouse but not in humans | Q58061470 | ||
Relaxation of insulin-like growth factor II gene imprinting implicated in Wilms' tumour | Q59088779 | ||
A candidate mouse model for Prader-Willi syndrome which shows an absence of Snrpn expression | Q67482957 | ||
IGF2 is parentally imprinted during human embryogenesis and in the Beckwith-Wiedemann syndrome | Q70765937 | ||
Parental genomic imprinting of the human IGF2 gene | Q72222239 | ||
P433 | issue | 2 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | Prader–Willi syndrome | Q594013 |
Small nuclear ribonucleoprotein polypeptide N | Q21133420 | ||
P304 | page(s) | 163-7 | |
P577 | publication date | 1994-02-01 | |
P1433 | published in | Nature Genetics | Q976454 |
P1476 | title | Maternal imprinting of human SNRPN, a gene deleted in Prader-Willi syndrome | |
P478 | volume | 6 |
Q24683678 | 15q11-13 GABAA receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders |
Q48678528 | A candidate model for Angelman syndrome in the mouse |
Q52208508 | A molecular and cytogenetic study in Finnish Prader-Willi patients. |
Q28271033 | A mouse model for Prader-Willi syndrome imprinting-centre mutations |
Q22009166 | A novel imprinted gene, encoding a RING zinc-finger protein, and overlapping antisense transcript in the Prader-Willi syndrome critical region |
Q41934469 | Allele-specific replication of 15q11-q13 loci: a diagnostic test for detection of uniparental disomy |
Q33795037 | An Exploration of Gene-Gene Interactions and Their Effects on Hypertension |
Q28204012 | An analytical method for the detection of methylation differences at specific chromosomal loci using primer extension and ion pair reverse phase HPLC |
Q72802890 | An insertion/deletion polymorphism at the D15S63 locus in the critical Prader-Willi syndrome region in 15q11-13 |
Q41927444 | Angelman syndrome assessed by neurological and molecular cytogenetic investigations |
Q36916686 | Assessment of sleep and breathing in adults with prader-willi syndrome: a case control series |
Q43105012 | Balanced translocation 46,XY,t(2;15)(q37.2;q11.2) associated with atypical Prader-Willi syndrome |
Q28292519 | Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient |
Q39075964 | Changeability of the fully methylated status of the 15q11.2 region in induced pluripotent stem cells derived from a patient with Prader-Willi syndrome |
Q36846020 | Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation |
Q72258805 | DNA diagnosis of Prader-Willi and Angelman syndromes with the probe PW71 (D15S63) |
Q35012870 | DNA methylation, chromatin boundaries, and mechanisms of genomic imprinting |
Q40881136 | De novo deletions of SNRPN exon 1 in early human and mouse embryos result in a paternal to maternal imprint switch |
Q71300963 | Deletion of small nuclear ribonucleoprotein polypeptide N (SNRPN) in Prader-Willi syndrome detected by fluorescence in situ hybridization: two sibs with the typical phenotype without a cytogenetic deletion in chromosome 15q |
Q28242397 | Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region |
Q72345863 | Domain organization of allele-specific replication within the GABRB3 gene cluster requires a biparental 15q11-13 contribution |
Q38922081 | Effect of small nuclear ribonucleoprotein-associated polypeptide N on the proliferation of medulloblastoma cells |
Q35120754 | Epigenetic consequences of artificial reproductive technologies to the bovine imprinted genes SNRPN, H19/IGF2, and IGF2R |
Q56588046 | Erasure of MLH1 methylation in spermatozoa—implications for epigenetic inheritance |
Q40579171 | Experimental embryological analysis of genetic imprinting in mouse development |
Q35881795 | Familial cryptic translocation resulting in Angelman syndrome:implications for imprinting or location of the Angelman gene? |
Q28215251 | Frequent loss of imprinting of IGF2 and MEST in lung adenocarcinoma |
Q24676443 | Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene |
Q36213162 | Genome-wide differentially methylated genes in prostate cancer tissues from African-American and Caucasian men. |
Q33541538 | Genomic imprinting: implications for human disease |
Q35814612 | High concentrations of long interspersed nuclear element sequence distinguish monoallelically expressed genes |
Q35884190 | Identification of a silencing element in the human 15q11-q13 imprinting center by using transgenic Drosophila |
Q28292239 | Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene |
Q51046179 | Imprinted chromosomal regions of the human genome display sex-specific meiotic recombination frequencies. |
Q34387306 | Imprinted expression of SNRPN in human preimplantation embryos |
Q28237886 | Imprinted segments in the human genome: different DNA methylation patterns in the Prader-Willi/Angelman syndrome region as determined by the genomic sequencing method |
Q72874155 | In and around SNRPN |
Q40665338 | In vivo characterization of regulatory polymorphisms by allele-specific quantification of RNA polymerase loading |
Q34314269 | Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15. |
Q49012032 | Lack of imprinting of the human dopamine D4 receptor (DRD4) gene |
Q73513643 | Loss of H19 imprinting and up-regulation of H19 and SNRPN in a case with malignant mixed Müllerian tumor of the uterus |
Q37336786 | Maternal vitamin D depletion alters DNA methylation at imprinted loci in multiple generations |
Q40413626 | Mechanistic and developmental aspects of genetic imprinting in mammals |
Q44117283 | Mild generalized epilepsy and developmental disorder associated with large inv dup(15). |
Q37442282 | Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations. |
Q21261463 | Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome |
Q84404767 | Molecular characterization of porcine NECD, SNRPN and UBE3A genes and imprinting status in the skeletal muscle of neonate pigs |
Q74492772 | Molecular genetic analysis of the Prader-Willi syndrome by using fluorescent multiplex PCR of the dinucleotide repeats on chromosome 15q11-q13 |
Q35171709 | Molecular genetic testing for prenatal diagnosis |
Q42558631 | New insights reveal complex mechanisms involved in genomic imprinting. |
Q40672445 | Parental imprinting of autosomal mammalian genes |
Q92537692 | Preserved expressive language as a phenotypic determinant of Mosaic Angelman Syndrome |
Q41685042 | Role of imprinting in abnormal human development |
Q58049964 | SNRPN methylation patterns in germ cell tumors as a reflection of primordial germ cell development |
Q35020593 | Sequencing and functional analysis of the SNRPN promoter: in vitro methylation abolishes promoter activity |
Q34804102 | Sleep and breathing in Prader-Willi syndrome |
Q24534447 | 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 |
Q34386278 | Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis |
Q41679049 | Stem cell defects in parthenogenetic peri-implantation embryos |
Q41640473 | Structure and function of the human chromosome 15 imprinting center |
Q35644181 | Testing parental imprinting in insulin-dependent diabetes mellitus by the marker-association-segregation-chi 2 method. |
Q34428426 | The E6-Ap ubiquitin-protein ligase (UBE3A) gene is localized within a narrowed Angelman syndrome critical region |
Q46894329 | The IPW gene is imprinted and is not expressed in the Prader-Willi syndrome |
Q42414524 | The autism-related gene SNRPN regulates cortical and spine development via controlling nuclear receptor Nr4a1. |
Q32062522 | The construction of cDNA libraries from human single preimplantation embryos and their use in the study of gene expression during development |
Q28249408 | The necdin gene is deleted in Prader-Willi syndrome and is imprinted in human and mouse |
Q72017438 | The search for imprinted genes |
Q72296658 | The use of restriction landmark genomic scanning to scan the mouse genome for endogenous loci with imprinted patterns of methylation |
Q71989840 | Ubiquitous expression and imprinting of Snrpn in the mouse |
Q30839807 | Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine |
Search more.