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Uniparental disomy
Results: 12

#	Item
1	Prader-Willi Syndrome (PWS) First description Prader-Willi syndrome (PWS) was first described in 1956 by Prader, Labhart and Willi. Genetics and molecular biology PWS results from the absence of expression of the paterna Add to Reading List Source URL: www.ssbp.org.uk Language: English - Date: 2015-05-13 15:34:08 Syndromes Genodermatoses Prader–Willi syndrome Cytogenetics Small nuclear RNA Genomic imprinting Small nucleolar RNA SNORD116 Chromosome 15 Uniparental disomy Genetics Health Biology
2	Common nomenclature of ID names and major common molecular findings Chromosome Suggested Name Add to Reading List Source URL: www.imprinting-disorders.eu Language: English - Date: 2015-02-08 12:27:50 Syndromes Biology Genomic imprinting Angelman syndrome Beckwith–Wiedemann syndrome Silver–Russell syndrome Prader–Willi syndrome Uniparental disomy Health Genetics Genodermatoses
3	SOCIETY FOR THE STUDY OF BEHAVIOURAL PHENOTYPES An International Organisation The SSBP is a Registered Charity: Charity No:Prader-Willi Syndrome (PWS) Add to Reading List Source URL: www.qcidd.com.au Language: English - Date: 2013-02-13 00:06:40 Syndromes Genodermatoses Prader–Willi syndrome Cytogenetics Small nuclear RNA Genomic imprinting Small nucleolar RNA SNORD116 Chromosome 15 Uniparental disomy Genetics Health Biology
4	BRIEF REPORT An ABCC8 Gene Mutation and Mosaic Uniparental Isodisomy Resulting in Atypical Diffuse Congenital Hyperinsulinism Khalid Hussain,1 Sarah E. Flanagan,2 Virpi V. Smith,3 Michael Ashworth,3 Michael Day,4 Add to Reading List Source URL: diabetes.diabetesjournals.org Language: English Hyperinsulinemic hypoglycemia Congenital hyperinsulinism Loss of heterozygosity Kir6.2 Hyperinsulinism Uniparental disomy Nesidioblastosis Beckwith–Wiedemann syndrome Non-Mendelian inheritance Biology Endocrine system Genetics
5	HUMAN MUTATION 22:92^[removed]METHODS Epigenetic Detection of Human Chromosome 14 Uniparental Disomy Add to Reading List Source URL: www.geneimprint.com Language: English - Date: 2012-06-22 09:55:58 Molecular biology Genomics DNA Non-coding RNA Bisulfite sequencing Genomic imprinting DNA methylation Methylation Uniparental disomy Genetics Biology Epigenetics
6	Arthur L. Beaudet, M.D. Allan Award Introduction by James Lupski It is truly a pleasure and privilege to introduce this year’s recipient of the William Allan Award, Arthur L. Beaudet who is the Henry and Emma Meyer Pro Add to Reading List Source URL: www.ashg.org Language: English - Date: 2012-05-10 22:10:43 Genodermatoses Syndromes Epigenetics Cytogenetics Prader–Willi syndrome Angelman syndrome Chromosome 15 Uniparental disomy Genomic imprinting Genetics Biology Health
7	Microsoft Word - CCMG_PractGuide_CYTO_UPD_13July10.doc Add to Reading List Source URL: www.ccmg-ccgm.org Language: English - Date: 2013-05-09 15:01:29 Uniparental disomy Aneuploidy Chromosome abnormality Chromosomal translocation Robertsonian translocation Chromosome 15 Trisomy Trisomic rescue Prader–Willi syndrome Genetics Biology Cytogenetics
8	9th Goldrain Course in Clinical Cytogenetics September 14th to 20th, 2014 LOCATION Goldrain Castle, Goldrain, South Tyrol, Italy Website of the venue: www.schloss-goldrain.it Add to Reading List Source URL: www.gfhev.de Language: English - Date: 2014-05-15 13:16:22 Aneuploidy Deletion Fluorescence in situ hybridization Uniparental disomy Virtual karyotype Genetics Biology Cytogenetics
9	CASS2014 13th Canadian Angelman Syndrome Society International Conference Add to Reading List Source URL: www.angelmancanada.org Language: English - Date: 2013-12-10 09:21:32 Syndromes Rare diseases Genodermatoses Cytogenetics Neurological disorders Angelman syndrome UBE3A Uniparental disomy Rare Diseases Clinical Research Network Genetics Health Biology
10	Microsoft Word - UPD14.doc Add to Reading List Source URL: www.ouh.nhs.uk Language: English - Date: 2012-07-24 11:26:43 Chromosomes Uniparental disomy Chromosomal translocation Aneuploidy Medical genetics MEG3 Genomic imprinting Trisomic rescue Robertsonian translocation Genetics Biology Cytogenetics