Page last updated: 2024-08-18

isomethyleugenol and Labhart-Willi Syndrome

isomethyleugenol has been researched along with Labhart-Willi Syndrome in 43 studies

Research

Studies (43)

Timeframe	Studies, this research(%)	All Research%
pre-1990	0 (0.00)	18.7374
1990's	34 (79.07)	18.2507
2000's	5 (11.63)	29.6817
2010's	2 (4.65)	24.3611
2020's	2 (4.65)	2.80

Authors

Authors	Studies
Dong, GQ; Huang, M; Li, JX; Lu, XY; Luo, XP; Qiu, XY; Su, YY	1
Chae, JH; Cho, SI; Kim, B; Kim, JY; Kim, MJ; Park, SS; Park, Y; Seong, MW	1
Duncan, MJ; Falaleeva, M; Stamm, S; Welden, JR	1
Bao, XH; Li, MR; Liu, XY; Pan, H; Qin, J; Wang, XZ; Wu, XR; Xiong, H; Yang, YL; Zhang, YH; Zhong, N	1
Feng, Y; Gong, W; Mo, J; Perrett, S; Wang, J; Zhou, T	1
Hilding, A; Höybye, C; Jacobsson, H; Thorén, M	1
Bosio, L; Corrias, A; Crinò, A; Gargantini, L; Livieri, C; Pozzan, G; Trifirò, G	1
Alliende R, MA; Barraza O, X; Barrios R, A; Cortés M, F; Curotto L, B; Mellado S, C; Pardo V, R; Santa María V, L; Troncoso A, L	1
McGrann, PS; Uphoff, TS; Van Dyke, DL; Zou, YS	1
Deal, CL	1
Halley, DJ; Hennekam, RC; Los, FJ; Meijers-Heijboer, HJ; Niermeijer, MF; Tijmensen, TS; van den Ouweland, AM; van der Est, MN; Van Hemel, JO; Wesby-van Swaay, E	1
Gillessen-Kaesbach, G; Gross, S; Horsthemke, B; Kaya-Westerloh, S; Passarge, E	1
Clarke, D; Corbett, J; Dahlitz, M; Hardy, CA; Kilpatrick, MW; Webb, T	1
Young, ID	1
Buiting, K; Dittrich, B; Gross, S; Horsthemke, B; Nicholls, RD; Saitoh, S; Schwartz, S	1
Cassidy, SB; Erickson, RP; Lai, LW	1
Abeliovich, D; Buiting, K; Dittrich, B; Guitart, M; Horsthemke, B; Lerer, I; Robinson, WP	1
Abeliovich, D; Lerer, I; Meiner, V; Pashut-Lavon, I	1
Buiting, K; Dittrich, B; Gross, S; Horsthemke, B	1
Anvret, M; Buiting, K; Dittrich, B; Gillessen-Kaesbach, G; Greger, V; Horsthemke, B; Lalande, M; Reis, A	1
London, WP	1
Driscoll, DJ; Glenn, CC; Horsthemke, B; Nicholls, RD; Niikawa, N; Robinson, WP; Saitoh, S; Schinzel, A	1
Andrews, T; Clayton-Smith, J; Driscoll, DJ; Malcolm, S; Nicholls, RD; Pembrey, ME; Waters, MF; Webb, T	1
Artifoni, L; Aviv, H; Baccichetti, C; Bernasconi, F; Franzoni, E; Robinson, WP; Schinzel, AA; Shih, LY; Suslak, L; Wagstaff, J	1
Driscoll, DJ; Filbrandt, MM; Glenn, CC; Jong, MT; Nicholls, RD; Saitoh, S; Surti, U	1
Lalande, M; LaSalle, JM	1
Brøndum-Nielsen, K; Hansen, C; Ledbeter, DH; Schulze, A; Skakkebaek, NE; Tommerup, N	1
Anvret, M; Grandell, U; Lindgren, AC; Ritzén, EM	1
Barth-Witte, U; Buchholz, B; Duba, HC; Erdel, M; Köchl, S; Schuffenhauer, S; Utermann, B; Utermann, G	1
Driscoll, DJ; Locker, J; Mowery-Rushton, PA; Nicholls, RD; Surti, U	1
Butler, MG	1
Buiting, K; Dittrich, B; Horsthemke, B	1
Arnemann, J; Buiting, K; Buxton, JL; Driscoll, DJ; Horsthemke, B; König, R; Malcolm, S; Nicholls, RD; Rogan, PK; Saitoh, S	1
Butler, MG; Hainline, BE; Nicholls, RD; Palmer, CG; Saitoh, S; Sun, Y	1
Chadwick, D; Chitayat, D; Kobayashi, J; Ray, P; Shuman, C; Siegel-Bartelt, J; Strasberg, P; Teshima, I; Weksberg, R	1
Feldman, G; Monaghan, KG; Van Dyke, DL; Weiss, L; Wiktor, A	1
Beaudet, AL; Gibbs, RA; Huq, AH; Nakao, M; Shen, Y; Sutcliffe, JS	1
Christianson, AL; de la Rey, M; van Rensburg, EJ; Viljoen, DL; Winship, WS	1
Buiting, K; Dittrich, B; Färber, C; Horsthemke, B	1
Belloni, DR; Filiano, JJ; Hawk, AB; Mamourian, AC; Moeschler, JB; Mohandas, TK; Noll, WW; Park, JP; Spellman, RA	1
Francke, U; Schweizer, J; Zynger, D	1
Buiting, K; Dittrich, B; Gillessen-Kaesbach, G; Horsthemke, B; Knoblauch, H; Robinson, WP; Schmidt, K	1
Avidano, KM; Driscoll, DJ; Glenn, CC; Nicholls, RD; Waters, MF; Williams, CA; Zori, RT	1

Reviews

2 review(s) available for isomethyleugenol and Labhart-Willi Syndrome

Article	Year
C/D-box snoRNAs form methylating and non-methylating ribonucleoprotein complexes: Old dogs show new tricks. BioEssays : news and reviews in molecular, cellular and developmental biology, 2017, Volume: 39, Issue:6 Topics: Animals; Gene Expression Regulation; Humans; Methylation; Prader-Willi Syndrome; Ribonucleoproteins; RNA Precursors; RNA, Ribosomal; RNA, Small Nucleolar; Yeasts	2017
Parental genomic imprinting. Current opinion in pediatrics, 1995, Volume: 7, Issue:4 Topics: Angelman Syndrome; Animals; Beckwith-Wiedemann Syndrome; Diabetes Mellitus, Type 1; Genomic Imprinting; Humans; Insulin-Like Growth Factor II; Kidney Neoplasms; Methylation; Mice; Muscle Proteins; Neoplasms; Prader-Willi Syndrome; RNA, Long Noncoding; RNA, Untranslated; Transcription, Genetic; Wilms Tumor	1995

Article

Year

C/D-box snoRNAs form methylating and non-methylating ribonucleoprotein complexes: Old dogs show new tricks.

BioEssays : news and reviews in molecular, cellular and developmental biology, 2017, Volume: 39, Issue:6

Topics: Animals; Gene Expression Regulation; Humans; Methylation; Prader-Willi Syndrome; Ribonucleoproteins; RNA Precursors; RNA, Ribosomal; RNA, Small Nucleolar; Yeasts

2017

Parental genomic imprinting.

Current opinion in pediatrics, 1995, Volume: 7, Issue:4

Topics: Angelman Syndrome; Animals; Beckwith-Wiedemann Syndrome; Diabetes Mellitus, Type 1; Genomic Imprinting; Humans; Insulin-Like Growth Factor II; Kidney Neoplasms; Methylation; Mice; Muscle Proteins; Neoplasms; Prader-Willi Syndrome; RNA, Long Noncoding; RNA, Untranslated; Transcription, Genetic; Wilms Tumor

1995

Trials

1 trial(s) available for isomethyleugenol and Labhart-Willi Syndrome

Article	Year
Growth hormone treatment improves body composition in adults with Prader-Willi syndrome. Clinical endocrinology, 2003, Volume: 58, Issue:5 Topics: Adipose Tissue; Adolescent; Adult; Body Composition; Body Mass Index; Drug Administration Schedule; Female; Genotype; Glucose Tolerance Test; Homeostasis; Human Growth Hormone; Humans; Insulin Resistance; Insulin-Like Growth Factor I; Lipids; Male; Methylation; Prader-Willi Syndrome; Weight Gain	2003

Article

Year

Growth hormone treatment improves body composition in adults with Prader-Willi syndrome.

Clinical endocrinology, 2003, Volume: 58, Issue:5

Topics: Adipose Tissue; Adolescent; Adult; Body Composition; Body Mass Index; Drug Administration Schedule; Female; Genotype; Glucose Tolerance Test; Homeostasis; Human Growth Hormone; Humans; Insulin Resistance; Insulin-Like Growth Factor I; Lipids; Male; Methylation; Prader-Willi Syndrome; Weight Gain

2003

Other Studies

40 other study(ies) available for isomethyleugenol and Labhart-Willi Syndrome

Article	Year
[Clinical screening and genetic diagnosis for Prader-Willi syndrome]. Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics, 2020, Volume: 22, Issue:9 Topics: Cesarean Section; Child; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Male; Methylation; Muscle Hypotonia; Prader-Willi Syndrome; Pregnancy	2020
Clinical Utility of Methylation-Specific Multiplex Ligation-Dependent Probe Amplification for the Diagnosis of Prader-Willi Syndrome and Angelman Syndrome. Annals of laboratory medicine, 2022, Jan-01, Volume: 42, Issue:1 Topics: Angelman Syndrome; Chromosomes, Human, Pair 15; DNA Methylation; Humans; Methylation; Multiplex Polymerase Chain Reaction; Prader-Willi Syndrome; Retrospective Studies	2022
[Methylation-specific multiplex ligation-dependent probe amplification in diagnosis of Prader-Willi syndrome and Angelman syndrome]. Zhonghua yi xue za zhi, 2008, Dec-16, Volume: 88, Issue:46 Topics: Angelman Syndrome; Child; Chromosomes, Human, Pair 15; DNA Probes; Humans; Methylation; Nucleic Acid Amplification Techniques; Prader-Willi Syndrome; Reagent Kits, Diagnostic	2008
Structural insight into recognition of methylated histone tails by retinoblastoma-binding protein 1. The Journal of biological chemistry, 2012, Mar-09, Volume: 287, Issue:11 Topics: Angelman Syndrome; Chromatin Assembly and Disassembly; Epigenesis, Genetic; Histones; Humans; Methylation; Mutagenesis; Nuclear Magnetic Resonance, Biomolecular; Prader-Willi Syndrome; Protein Structure, Tertiary; Retinoblastoma-Binding Protein 1; Structure-Activity Relationship	2012
Neonatal hypotonia: don't forget the Prader-Willi syndrome. Acta paediatrica (Oslo, Norway : 1992), 2003, Volume: 92, Issue:9 Topics: Adult; Female; Humans; In Situ Hybridization, Fluorescence; Male; Methylation; Muscle Hypotonia; Prader-Willi Syndrome	2003
[Clinical, genetic and molecular features in 45 patients with Prader-Willi syndrome]. Revista medica de Chile, 2005, Volume: 133, Issue:1 Topics: Adolescent; Adult; Child; Child, Preschool; Chile; Female; Gene Deletion; Humans; Infant; Infant, Newborn; Male; Methylation; Phenotype; Prader-Willi Syndrome; Retrospective Studies	2005
A case of mosaic supernumerary ring chromosome 15 with two copies of the segment 15p11.1-q14. American journal of medical genetics. Part A, 2006, Aug-01, Volume: 140, Issue:15 Topics: Adolescent; Angelman Syndrome; Blotting, Southern; Chromosomes; Chromosomes, Human, Pair 15; DNA Methylation; DNA, Satellite; Female; Humans; In Situ Hybridization, Fluorescence; Karyotyping; Methylation; Mosaicism; Phenotype; Prader-Willi Syndrome; Ribonucleoproteins, Small Nuclear	2006
DNA diagnosis of Prader-Willi and Angelman syndromes with the probe PW71 (D15S63). Human genetics, 1995, Volume: 95, Issue:5 Topics: Alleles; Angelman Syndrome; Blotting, Southern; Chromosome Deletion; Chromosomes, Human, Pair 15; DNA; DNA Probes; DNA, Satellite; Female; Genetic Markers; Humans; Male; Methylation; Polymorphism, Restriction Fragment Length; Prader-Willi Syndrome	1995
DNA methylation based testing of 450 patients suspected of having Prader-Willi syndrome. Journal of medical genetics, 1995, Volume: 32, Issue:2 Topics: Adolescent; Adult; Child; Child, Preschool; Chromosome Aberrations; Diagnosis, Differential; DNA; DNA Probes; Female; Genetic Markers; Humans; Infant; Male; Methylation; Muscle Hypotonia; Polymorphism, Restriction Fragment Length; Prader-Willi Syndrome	1995
A clinical, cytogenetic, and molecular study of 40 adults with the Prader-Willi syndrome. Journal of medical genetics, 1995, Volume: 32, Issue:3 Topics: Adolescent; Adult; Aneuploidy; Chromosomes, Human, Pair 15; Cytogenetics; Family Health; Female; Heterozygote; Humans; Male; Methylation; Pedigree; Prader-Willi Syndrome; Sequence Deletion	1995
Diagnosing Prader-Willi syndrome. Lancet (London, England), 1995, Jun-24, Volume: 345, Issue:8965 Topics: Chromosome Deletion; Chromosomes, Human, Pair 15; DNA; DNA Probes; Genomic Imprinting; Humans; In Situ Hybridization, Fluorescence; Methylation; Prader-Willi Syndrome	1995
Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15. Nature genetics, 1995, Volume: 9, Issue:4 Topics: Angelman Syndrome; Autoantigens; Chromosomes, Human, Pair 15; DNA; DNA Probes; Female; Gene Expression; Genomic Imprinting; Humans; Male; Methylation; Models, Genetic; Pedigree; Prader-Willi Syndrome; Restriction Mapping; Ribonucleoproteins, Small Nuclear; Sequence Deletion; snRNP Core Proteins	1995
Clinical correlates of chromosome 15 deletions and maternal disomy in Prader-Willi syndrome. American journal of diseases of children (1960), 1993, Volume: 147, Issue:11 Topics: Adolescent; Adult; Child; Child, Preschool; Chromosome Deletion; Chromosomes, Human, Pair 15; DNA Probes; Female; Humans; Infant; Male; Methylation; Molecular Biology; Pedigree; Polymorphism, Restriction Fragment Length; Prader-Willi Syndrome	1993
Detection of aberrant DNA methylation in unique Prader-Willi syndrome patients and its diagnostic implications. Human molecular genetics, 1994, Volume: 3, Issue:6 Topics: Adolescent; Autoantigens; Blotting, Southern; Child, Preschool; Chromosome Deletion; Chromosome Mapping; Chromosomes, Human, Pair 15; DNA; DNA, Satellite; Female; Genotype; Humans; Male; Methylation; Prader-Willi Syndrome; Ribonucleoproteins, Small Nuclear; snRNP Core Proteins	1994
Molecular diagnosis of Prader-Willi syndrome: parent-of-origin dependent methylation sites and non-isotopic detection of (CA)n dinucleotide repeat polymorphisms. American journal of medical genetics, 1994, Aug-01, Volume: 52, Issue:1 Topics: Adolescent; Alleles; Base Sequence; Child; Chromosome Mapping; DNA Primers; Female; Humans; Infant; Infant, Newborn; Male; Methylation; Molecular Sequence Data; Polymorphism, Genetic; Prader-Willi Syndrome; Repetitive Sequences, Nucleic Acid	1994
Characterization of a methylation imprint in the Prader-Willi syndrome chromosome region. Human molecular genetics, 1993, Volume: 2, Issue:12 Topics: Adult; Base Sequence; Chorion; Chromosomes, Artificial, Yeast; Chromosomes, Human, Pair 15; DNA; DNA, Neoplasm; Female; Humans; Male; Methylation; Molecular Sequence Data; Oocytes; Placenta; Prader-Willi Syndrome; Pregnancy; Repetitive Sequences, Nucleic Acid; Restriction Mapping	1993
Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes. American journal of human genetics, 1994, Volume: 54, Issue:5 Topics: Angelman Syndrome; Blotting, Southern; Chromosome Mapping; Chromosomes, Human, Pair 15; DNA; Female; Genetic Markers; Genotype; Humans; Male; Methylation; Models, Genetic; Mutation; Prader-Willi Syndrome; Restriction Mapping	1994
Hypopigmentation, anomalous cerebral dominance and seasonality. Medical hypotheses, 1993, Volume: 41, Issue:6 Topics: Alzheimer Disease; Animals; Breast Neoplasms; Chromosomes, Human; DNA; Dominance, Cerebral; Dyslexia; Female; Gonadal Steroid Hormones; Humans; Hypopigmentation; Male; Maternal-Fetal Exchange; Methylation; Models, Biological; Prader-Willi Syndrome; Pregnancy; Rabbits; Seasons	1993
Modification of 15q11-q13 DNA methylation imprints in unique Angelman and Prader-Willi patients. Human molecular genetics, 1993, Volume: 2, Issue:9 Topics: Angelman Syndrome; Chromosomes, Human, Pair 15; DNA; Female; Gene Deletion; Gene Rearrangement; Genetic Markers; Humans; Male; Methylation; Pedigree; Phenotype; Prader-Willi Syndrome	1993
Difference in methylation patterns within the D15S9 region of chromosome 15q11-13 in first cousins with Angelman syndrome and Prader-Willi syndrome. American journal of medical genetics, 1993, Oct-01, Volume: 47, Issue:5 Topics: Angelman Syndrome; Child; Chromosome Deletion; Chromosomes, Human, Pair 15; DNA; DNA Probes; Humans; Male; Methylation; Pedigree; Prader-Willi Syndrome	1993
Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome. Journal of medical genetics, 1993, Volume: 30, Issue:9 Topics: Angelman Syndrome; Child; Child, Preschool; Chromosome Deletion; Chromosome Inversion; Chromosomes, Human, Pair 15; Fathers; Humans; Karyotyping; Male; Methylation; Mothers; Prader-Willi Syndrome; Trisomy	1993
Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene. American journal of human genetics, 1996, Volume: 58, Issue:2 Topics: Adolescent; Adult; Amino Acid Sequence; Angelman Syndrome; Autoantigens; Base Sequence; Child; Child, Preschool; Chromosome Mapping; Cloning, Molecular; Codon, Initiator; CpG Islands; DNA; Exons; Female; Genomic Imprinting; Humans; Infant; Male; Methylation; Molecular Sequence Data; Polymerase Chain Reaction; Prader-Willi Syndrome; Ribonucleoproteins, Small Nuclear; RNA Splicing; snRNP Core Proteins	1996
Homologous association of oppositely imprinted chromosomal domains. Science (New York, N.Y.), 1996, May-03, Volume: 272, Issue:5262 Topics: Alleles; Angelman Syndrome; Chromosomes, Human, Pair 15; DNA; DNA Probes; Genomic Imprinting; Humans; In Situ Hybridization, Fluorescence; Methylation; Microscopy, Confocal; Prader-Willi Syndrome; S Phase; T-Lymphocytes; Transcription, Genetic	1996
Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint. Nature genetics, 1996, Volume: 12, Issue:4 Topics: Adolescent; Adult; Autoantigens; Base Sequence; Chromosome Deletion; Chromosome Mapping; Chromosomes, Human, Pair 15; Chromosomes, Human, Pair 9; DNA; DNA Primers; Female; Genomic Imprinting; Humans; In Situ Hybridization, Fluorescence; Male; Methylation; Molecular Sequence Data; Pedigree; Prader-Willi Syndrome; Ribonucleoproteins, Small Nuclear; snRNP Core Proteins; Translocation, Genetic	1996
Diagnosis of the Prader-Willi syndrome by proving the absence of the unmethylated PW71 DNA fragment. Acta paediatrica (Oslo, Norway : 1992), 1996, Volume: 85, Issue:2 Topics: Adolescent; Adult; Child; Child, Preschool; Chromosomes, Human, Pair 15; DNA Probes; Female; Humans; Karyotyping; Male; Methylation; Prader-Willi Syndrome	1996
Routine screening for microdeletions by FISH in 77 patients suspected of having Prader-Willi or Angelman syndromes using YAC clone 273A2 (D15S10). Human genetics, 1996, Volume: 97, Issue:6 Topics: Adolescent; Adult; Angelman Syndrome; Child; Child, Preschool; Chromosome Banding; Chromosome Deletion; Chromosomes, Artificial, Yeast; Chromosomes, Human, Pair 15; DNA; Female; Humans; In Situ Hybridization, Fluorescence; Infant; Male; Methylation; Phenotype; Prader-Willi Syndrome; Sensitivity and Specificity	1996
DNA methylation patterns in human tissues of uniparental origin using a zinc-finger gene (ZNF127) from the Angelman/Prader-Willi region. American journal of medical genetics, 1996, Jan-11, Volume: 61, Issue:2 Topics: Angelman Syndrome; DNA; Female; Genomic Imprinting; Humans; Hydatidiform Mole; Kruppel-Like Transcription Factors; Methylation; Ovarian Neoplasms; Prader-Willi Syndrome; Pregnancy; Repressor Proteins; Restriction Mapping; Teratoma; Transgenes; Zinc Fingers	1996
Molecular diagnosis of Prader-Willi syndrome: comparison of cytogenetic and molecular genetic data including parent of origin dependent methylation DNA patterns. American journal of medical genetics, 1996, Jan-11, Volume: 61, Issue:2 Topics: Adolescent; Adult; Blotting, Southern; Child; Child, Preschool; Chromosome Aberrations; Chromosomes, Human, Pair 15; DNA; DNA Probes; Female; Humans; In Situ Hybridization, Fluorescence; Infant; Karyotyping; Male; Methylation; Polymerase Chain Reaction; Prader-Willi Syndrome; Sequence Deletion	1996
PW71 methylation test for Prader-Willi and Angelman syndromes. American journal of medical genetics, 1996, Jan-11, Volume: 61, Issue:2 Topics: Angelman Syndrome; Blotting, Southern; DNA; Humans; Methylation; Prader-Willi Syndrome; Reproducibility of Results	1996
Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations. Proceedings of the National Academy of Sciences of the United States of America, 1996, Jul-23, Volume: 93, Issue:15 Topics: Angelman Syndrome; Base Sequence; Chromosome Mapping; Chromosomes, Human, Pair 15; DNA Primers; Family; Female; Genetic Markers; Genomic Imprinting; Homozygote; Humans; Male; Methylation; Molecular Sequence Data; Mothers; Pedigree; Polymerase Chain Reaction; Polymorphism, Genetic; Prader-Willi Syndrome; Sequence Deletion; Transcription, Genetic	1996
Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient. Human molecular genetics, 1996, Volume: 5, Issue:4 Topics: Autoantigens; Base Sequence; Blotting, Southern; Child, Preschool; Chromosomes, Human, Pair 15; Chromosomes, Human, Pair 19; DNA; DNA Damage; DNA Primers; Female; Humans; In Situ Hybridization, Fluorescence; Male; Methylation; Molecular Sequence Data; Pedigree; Prader-Willi Syndrome; Ribonucleoproteins, Small Nuclear; RNA; snRNP Core Proteins; Translocation, Genetic	1996
FISH detection of chromosome 15 deletions in Prader-Willi and Angelman syndromes. American journal of medical genetics, 1996, Mar-29, Volume: 62, Issue:3 Topics: Angelman Syndrome; Chromosome Banding; Chromosome Deletion; Chromosomes, Human, Pair 15; Dinucleotide Repeats; Female; Humans; In Situ Hybridization, Fluorescence; Male; Methylation; Prader-Willi Syndrome	1996
Diagnostic testing: a cost analysis for Prader-Willi and Angelman syndromes. American journal of human genetics, 1997, Volume: 60, Issue:1 Topics: Angelman Syndrome; Cost-Benefit Analysis; Genetic Techniques; Humans; In Situ Hybridization, Fluorescence; Karyotyping; Methylation; Polymerase Chain Reaction; Prader-Willi Syndrome	1997
Sequencing and functional analysis of the SNRPN promoter: in vitro methylation abolishes promoter activity. Genome research, 1997, Volume: 7, Issue:6 Topics: Alleles; Autoantigens; Cells, Cultured; Chromosomes, Human, Pair 15; Cloning, Molecular; CpG Islands; DNA Methylation; DNA-Cytosine Methylases; Exons; Gene Expression; HeLa Cells; Humans; Methylation; Molecular Sequence Data; Polymerase Chain Reaction; Prader-Willi Syndrome; Promoter Regions, Genetic; Repetitive Sequences, Nucleic Acid; Ribonucleoproteins, Small Nuclear; Sequence Analysis, DNA; snRNP Core Proteins; Transfection	1997
Prader-Willi syndrome in South African patients--clinical and molecular diagnosis. South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, 1998, Volume: 88, Issue:6 Topics: Blotting, Southern; Chromosome Deletion; Chromosomes, Human, Pair 15; DNA Probes; Female; Humans; Male; Methylation; Nucleic Acid Hybridization; Prader-Willi Syndrome; Prospective Studies; South Africa	1998
The chromosome 15 imprinting centre (IC) region has undergone multiple duplication events and contains an upstream exon of SNRPN that is deleted in all Angelman syndrome patients with an IC microdeletion. Human molecular genetics, 1999, Volume: 8, Issue:2 Topics: Angelman Syndrome; Autoantigens; Base Sequence; Chromosome Aberrations; Chromosome Disorders; Chromosomes, Human, Pair 15; DNA; Exons; Gene Expression; Genomic Imprinting; Humans; Methylation; Molecular Sequence Data; Prader-Willi Syndrome; Reverse Transcriptase Polymerase Chain Reaction; Ribonucleoproteins, Small Nuclear; RNA; Sequence Deletion; snRNP Core Proteins; Transcription, Genetic	1999
Paternally derived de novo interstitial duplication of proximal 15q in a patient with developmental delay. American journal of medical genetics, 1999, Feb-12, Volume: 82, Issue:4 Topics: Agenesis of Corpus Callosum; Autoantigens; Child, Preschool; Chromosomes, Human, Pair 15; Corpus Callosum; Developmental Disabilities; Diagnosis, Differential; Gene Duplication; Humans; In Situ Hybridization, Fluorescence; Male; Methylation; Microsatellite Repeats; Phenotype; Prader-Willi Syndrome; Radiography; Ribonucleoproteins, Small Nuclear; snRNP Core Proteins	1999
In vivo nuclease hypersensitivity studies reveal multiple sites of parental origin-dependent differential chromatin conformation in the 150 kb SNRPN transcription unit. Human molecular genetics, 1999, Volume: 8, Issue:4 Topics: Alleles; Angelman Syndrome; Autoantigens; Binding Sites; Cell Line, Transformed; Chromatin; Chromosomes, Human, Pair 15; Cytosine; Deoxyribonuclease HpaII; Deoxyribonuclease I; Deoxyribonucleases; DNA; DNA-Cytosine Methylases; Exons; Genomic Imprinting; Humans; Introns; Methylation; Nucleic Acid Conformation; Prader-Willi Syndrome; Restriction Mapping; Ribonucleoproteins, Small Nuclear; snRNP Core Proteins; Transcription, Genetic	1999
Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13. Human genetics, 1992, Volume: 90, Issue:3 Topics: Adult; Angelman Syndrome; Child; Chromosomes, Human, Pair 15; DNA; Humans; Methylation; Polymorphism, Genetic; Prader-Willi Syndrome	1992
A DNA methylation imprint, determined by the sex of the parent, distinguishes the Angelman and Prader-Willi syndromes. Genomics, 1992, Volume: 13, Issue:4 Topics: Blotting, Southern; Chromosome Deletion; Chromosome Mapping; Chromosomes, Human, Pair 15; DNA; DNA Probes; Female; Humans; Intellectual Disability; Male; Methylation; Movement Disorders; Parents; Prader-Willi Syndrome; Sex Factors; Syndrome	1992