Uniparental disomy and genomic imprinting as causes of human genetic disease

scientific article published on January 1995

Uniparental disomy and genomic imprinting as causes of human genetic disease is …
instance of (P31):
review articleQ7318358
scholarly articleQ13442814

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P356DOI10.1002/EM.2850250605
P698PubMed publication ID7789357

P2093author name stringCassidy SB
P2860cites workA gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinismQ24320016
Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical regionQ28208127
Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysisQ31165084
Chromosome imprinting and the mammalian X chromosomeQ33966462
Is Angelman syndrome an alternate result of del(15)(q11q13)?Q34187549
Differential activity of maternally and paternally derived chromosome regions in miceQ34198480
Uniparental isodisomy 6 associated with deficiency of the fourth component of complementQ34259605
Etiology of nondisjunction in humansQ34313631
Allele specificity of DNA replication timing in the Angelman/Prader-Willi syndrome imprinted chromosomal regionQ34337845
Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletionQ34461093
Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome.Q34680586
Deletions of chromosome 15 as a cause of the Prader-Willi syndromeQ34718526
Uniparental disomy, isodisomy, and imprinting: probable effects in man and strategies for their detectionQ36804804
Angelman syndromeQ41640527
Maternal imprinting of the mouse Snrpn gene and conserved linkage homology with the human Prader-Willi syndrome regionQ44185908
The frequency of uniparental disomy in Prader-Willi syndrome. Implications for molecular diagnosis.Q52043084
Parental imprinting of the mouse insulin-like growth factor II gene.Q55052428
Molecular characterization of cytogenetic alterations associated with the Beckwith — Wiedemann syndrome (BWS) phenotype refines the localization and suggests the gene for BWS is imprintedQ58666635
Degree of methylation of transgenes is dependent on gamete of originQ59066120
A candidate mouse model for Prader-Willi syndrome which shows an absence of Snrpn expressionQ67482957
Conference report: First International Scientific Workshop on Prader-Willi Syndrome and Other Chromosome 15q Deletion Disorders. May 2-3, 1991, DeLeeuwenhorst, The Netherlands. AbstractsQ67735734
Confirmation of CVS mosaicism in term placentae and high frequency of intrauterine growth retardation association with confined placental mosaicismQ67873137
A DNA methylation imprint, determined by the sex of the parent, distinguishes the Angelman and Prader-Willi syndromesQ68019576
Paternal hydrocarbon exposure in Prader-Willi syndromeQ69911063
Parental legacy determines methylation and expression of an autosomal transgene: a molecular mechanism for parental imprintingQ70191111
Human triploidy: relationship between parental origin of the additional haploid complement and development of partial hydatidiform moleQ70470582
A new genetic concept: uniparental disomy and its potential effect, isodisomyQ70656134
The search for imprinted genesQ72017438
Parental genomic imprinting of the human IGF2 geneQ72222239
Functional imprinting and epigenetic modification of the human SNRPN geneQ72250009
The inactive X chromosome in female mammals is distinguished by a lack of histone H4 acetylation, a cytogenetic marker for gene expressionQ72863039
P304page(s)13-20
P577publication date1995-01-01
P1433published inEnvironmental and Molecular MutagenesisQ15724469
P1476titleUniparental disomy and genomic imprinting as causes of human genetic disease
P478volume25 Suppl 26

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cites work (P2860)
Q47900589Assessment of the genotoxicity of trichloroethylene in the in vivo micronucleus assay by inhalation exposure
Q73494635Delayed diagnosis in patients with Prader-Willi syndrome due to maternal uniparental disomy 15
Q30756738Differential gene expression in drug metabolism and toxicology: practicalities, problems and potential
Q41926935Duplication 14(q24.3q31) in a father and daughter: delineation of a possible imprinted region
Q33678342Fortuitous detection of uniparental isodisomy of chromosome 6.
Q41404708Genetic counseling in perinatal medicine
Q35249537Maternal uniparental disomy of chromosome 1 with reduction to homozygosity of the LAMB3 locus in a patient with Herlitz junctional epidermolysis bullosa
Q40549882Mutagenesis and human genetic disease: an introduction
Q42686045Parental GM and HLA genotypes and reduced birth weight in patients with Turner's syndrome
Q50135105Structural and mechanistic bases for the induction of mitotic chromosomal loss and duplication ('malsegregation') in the yeast Saccharomyces cerevisiae: relevance to human carcinogenesis and developmental toxicology
Q40549915The new human genetics
Q42590079Williams syndrome starts making sense

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