scholarly article | Q13442814 |
P2093 | author name string | McKay T | |
Pembrey ME | |||
Winter RM | |||
Malcolm S | |||
Chan CT | |||
Cottrell S | |||
Buxton JL | |||
Ramsden S | |||
Gilbert HL | |||
P2860 | cites work | Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region | Q28242397 |
Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene | Q28292239 | ||
Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis | Q31165084 | ||
Uniparental paternal disomy in Angelman's syndrome | Q33244469 | ||
Linkage analysis with chromosome 15q11-13 markers shows genomic imprinting in familial Angelman syndrome | Q33594746 | ||
Molecular mechanisms in Angelman syndrome: a survey of 93 patients | Q33595952 | ||
A clinical, cytogenetic, and molecular study of 40 adults with the Prader-Willi syndrome | Q33676035 | ||
Analysis of parent of origin specific DNA methylation at SNRPN and PW71 in tissues: implication for prenatal diagnosis | Q33678130 | ||
Prader-Willi syndrome: consensus diagnostic criteria. | Q34061685 | ||
Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15. | Q34314269 | ||
Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome. | Q34680586 | ||
Chromosome 15 uniparental disomy is not frequent in Angelman syndrome | Q35195911 | ||
Angelman syndrome: three molecular classes identified with chromosome 15q11q13-specific DNA markers | Q35198215 | ||
Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients | Q35643492 | ||
Dinucleotide repeat polymorphism of D15S10 in the Prader-Willi chromosome region (PWCR) | Q35786907 | ||
Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes | Q35889365 | ||
Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): molecular diagnosis and mechanism of uniparental disomy. | Q36783665 | ||
Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations. | Q37442282 | ||
Molecular and clinical study of 61 Angelman syndrome patients | Q40557034 | ||
Further evidence for dominant inheritance at the chromosome 15q11-13 locus in familial Angelman syndrome | Q41091235 | ||
Angelman syndrome | Q41640527 | ||
Report of the first international workshop on human chromosome 15 mapping. | Q43905575 | ||
Characterization of a methylation imprint in the Prader-Willi syndrome chromosome region | Q48090741 | ||
Dinucleotide repeat polymorphism at the D15S11 locus in the Angelman/Prader-Willi region (AS/PWS) of chromosome 15 | Q48176546 | ||
Dinucleotide repeat polymorphism at the GABAA receptor beta 3 (GABRB3) locus in the Angelman/Prader-Willi region (AS/PWS) of chromosome 15 | Q48179997 | ||
The frequency of uniparental disomy in Prader-Willi syndrome. Implications for molecular diagnosis. | Q52043084 | ||
Report and abstracts of the Second International Workshop on Human Chromosome 15 Mapping. England, February 18-20, 1994. | Q53385834 | ||
Modification of 15q11-q13 DNA methylation imprints in unique Angelman and Prader-Willi patients | Q55670725 | ||
Maternal but not paternal transmission of 15q11-13-linked nondeletion Angelman syndrome leads to phenotypic expression | Q67510275 | ||
Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13 | Q67993243 | ||
A DNA methylation imprint, determined by the sex of the parent, distinguishes the Angelman and Prader-Willi syndromes | Q68019576 | ||
PW71 methylation test for Prader-Willi and Angelman syndromes | Q71158395 | ||
Molecular study of chromosome 15 in 22 patients with Angelman syndrome | Q72209589 | ||
Functional imprinting and epigenetic modification of the human SNRPN gene | Q72250009 | ||
Detection of aberrant DNA methylation in unique Prader-Willi syndrome patients and its diagnostic implications | Q72781669 | ||
Angelman syndrome associated with a maternal 15q11-13 deletion of less than 200 kb | Q72874004 | ||
P433 | issue | 8 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | Angelman syndrome | Q535364 |
P304 | page(s) | 651-655 | |
P577 | publication date | 1997-08-01 | |
P1433 | published in | Journal of Medical Genetics | Q14640281 |
P1476 | title | Counselling dilemmas associated with the molecular characterisation of two Angelman syndrome families | |
P478 | volume | 34 |
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