Counselling dilemmas associated with the molecular characterisation of two Angelman syndrome families

scientific article

Counselling dilemmas associated with the molecular characterisation of two Angelman syndrome families is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1136/JMG.34.8.651
P932PMC publication ID1051027
P698PubMed publication ID9279757
P5875ResearchGate publication ID13940415

P2093author name stringMcKay T
Pembrey ME
Winter RM
Malcolm S
Chan CT
Cottrell S
Buxton JL
Ramsden S
Gilbert HL
P2860cites workDeletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control regionQ28242397
Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN geneQ28292239
Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysisQ31165084
Uniparental paternal disomy in Angelman's syndromeQ33244469
Linkage analysis with chromosome 15q11-13 markers shows genomic imprinting in familial Angelman syndromeQ33594746
Molecular mechanisms in Angelman syndrome: a survey of 93 patientsQ33595952
A clinical, cytogenetic, and molecular study of 40 adults with the Prader-Willi syndromeQ33676035
Analysis of parent of origin specific DNA methylation at SNRPN and PW71 in tissues: implication for prenatal diagnosisQ33678130
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 syndromeQ35195911
Angelman syndrome: three molecular classes identified with chromosome 15q11q13-specific DNA markersQ35198215
Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patientsQ35643492
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 syndromesQ35889365
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 patientsQ40557034
Further evidence for dominant inheritance at the chromosome 15q11-13 locus in familial Angelman syndromeQ41091235
Angelman syndromeQ41640527
Report of the first international workshop on human chromosome 15 mapping.Q43905575
Characterization of a methylation imprint in the Prader-Willi syndrome chromosome regionQ48090741
Dinucleotide repeat polymorphism at the D15S11 locus in the Angelman/Prader-Willi region (AS/PWS) of chromosome 15Q48176546
Dinucleotide repeat polymorphism at the GABAA receptor beta 3 (GABRB3) locus in the Angelman/Prader-Willi region (AS/PWS) of chromosome 15Q48179997
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 patientsQ55670725
Maternal but not paternal transmission of 15q11-13-linked nondeletion Angelman syndrome leads to phenotypic expressionQ67510275
Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13Q67993243
A DNA methylation imprint, determined by the sex of the parent, distinguishes the Angelman and Prader-Willi syndromesQ68019576
PW71 methylation test for Prader-Willi and Angelman syndromesQ71158395
Molecular study of chromosome 15 in 22 patients with Angelman syndromeQ72209589
Functional imprinting and epigenetic modification of the human SNRPN geneQ72250009
Detection of aberrant DNA methylation in unique Prader-Willi syndrome patients and its diagnostic implicationsQ72781669
Angelman syndrome associated with a maternal 15q11-13 deletion of less than 200 kbQ72874004
P433issue8
P407language of work or nameEnglishQ1860
P921main subjectAngelman syndromeQ535364
P304page(s)651-655
P577publication date1997-08-01
P1433published inJournal of Medical GeneticsQ14640281
P1476titleCounselling dilemmas associated with the molecular characterisation of two Angelman syndrome families
P478volume34

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cites work (P2860)
Q74806010Atypical molecular findings identify limits of technical screening tests for Prader-Willi and Angelman syndrome diagnoses
Q28143254Germline mosaicism in X-linked myotubular myopathy

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