Prader–Willi syndrome and Angelman syndrome

UBE3A/E6-AP mutations cause Angelman syndrome

Kishino, T., Lalande, M., & Wagstaff, J. E. (1997) · Nature Genetics · doi:10.1038/ng0197-70 · Cited by 1,304 · see citing works

Prader-Willi Syndrome: Consensus Diagnostic Criteria

Holm, V. A., Cassidy, S. B., Butler, M. G., Hanchett, J. M., Greenswag, L. R., Whitman, B. Y., & Greenberg, F. (1993) · Pediatrics · doi:10.1542/peds.91.2.398 · Cited by 1,278 · see citing works

Genetic imprinting suggested by maternal heterodisomy in non-deletion Prader-Willi syndrome

Nicholls, R. D., Knoll, J. H. M., Butler, M. G., Karam, S., & Lalande, M. (1989) · Nature · doi:10.1038/342281a0 · Cited by 878 · see citing works

De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome

Matsuura, T., Sutcliffe, J. S., Fang, P., Galjaard, R. H., Jiang, Y., Benton, C. S., Rommens, J. M., & Beaudet, A. L. (1997) · Nature Genetics · doi:10.1038/ng0197-74 · Cited by 858 · see citing works

The snoRNA HBII-52 Regulates Alternative Splicing of the Serotonin Receptor 2C

Kishore, S., & Stamm, S. (2005) · Science · doi:10.1126/science.1118265 · Cited by 699 · see citing works

Angelman syndrome: a review of the clinical and genetic aspects

Clayton-Smith, J., & Laan, L. (2003) · Journal of Medical Genetics · doi:10.1136/jmg.40.2.87 · Cited by 687 · see citing works

Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster

Sahoo, T., del Gaudio, D., German, J. R., Shinawi, M. S., Peters, S. U., Person, R., Garnica, A. D., Cheung, S. W., & Beaudet, A. L. (2008) · Nature Genetics · doi:10.1038/ng.158 · Cited by 672 · see citing works

Angelman syndrome 2005: Updated consensus for diagnostic criteria

Williams, C. A., Beaudet, A. L., Clayton‐Smith, J., Knoll, J. H. M., Kyllerman, M., Laan, L., Magenis, R. E., Moncla, A., Schinzel, A., Summers, J., et al. (2006) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31074 · Cited by 626 · see citing works

Deletions of Chromosome 15 as a Cause of the Prader–Willi Syndrome

Ledbetter, D. H., Riccardi, V. M., Airhart, S. D., Strobel, R. J., Keenan, B. S., & Crawford, J. D. (1981) · New England Journal of Medicine · doi:10.1056/nejm198102053040604 · Cited by 622 · see citing works

Identification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organization

Cavaillé, J., Buiting, K., Kiefmann, M., Lalande, M., Brannan, C. I., Horsthemke, B., Bachellerie, J.-P., Brosius, J., & Hüttenhofer, A. (2000) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.250426397 · Cited by 601 · see citing works

Inherited microdeletions in the Angelman and Prader–Willi syndromes define an imprinting centre on human chromosome 15

Buiting, K., Saitoh, S., Groß, S., Dittrich, B., Schwartz, S., Nicholls, R. D., & Horsthemke, B. (1995) · Nature Genetics · doi:10.1038/ng0495-395 · Cited by 595 · see citing works

Prader–Willi syndrome

Cassidy, S. B., & Driscoll, D. J. (2008) · European Journal of Human Genetics · doi:10.1038/ejhg.2008.165 · Cited by 593 · see citing works

Angelman and Prader‐Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion

Knoll, J. H. M., Nicholls, R. D., Magenis, R. E., Graham, J. M., Lalande, M., Latt, S. A., Opitz, J. M., & Reynolds, J. F. (1989) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320320235 · Cited by 576 · see citing works

The Changing Purpose of Prader-Willi Syndrome Clinical Diagnostic Criteria and Proposed Revised Criteria

Gunay‐Aygun, M., Schwartz, S., Heeger, S., O’Riordan, M. A., & Cassidy, S. B. (2001) · PEDIATRICS · doi:10.1542/peds.108.5.e92 · Cited by 476 · see citing works

Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region

Sutcliffe, J. S., Nakao, M., Christian, S. L., Ørstavik, K. H., Tommerup, N., Ledbetter, D. H., & Beaudet, A. L. (1994) · Nature Genetics · doi:10.1038/ng0994-52 · Cited by 413 · see citing works

The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A

Runte, M. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.23.2687 · Cited by 391 · see citing works

Epimutations in Prader-Willi and Angelman Syndromes: A Molecular Study of 136 Patients with an Imprinting Defect

Buiting, K., Groß, S., Lich, C., Gillessen-Kaesbach, G., El-Maarri, O., & Horsthemke, B. (2003) · The American Journal of Human Genetics · doi:10.1086/367926 · Cited by 372 · see citing works

Distinct phenotypes distinguish the molecular classes of Angelman syndrome

Lossie, A. C., Whitney, M. M., Amidon, D., Dong, H. J., Chen, P., Theriaque, D., Hutson, A., Nicholls, R. D., Zori, R. T., Williams, C. A., et al. (2001) · Journal of Medical Genetics · doi:10.1136/jmg.38.12.834 · Cited by 365 · see citing works

Angelman syndrome: Consensus for diagnostic criteria

Williams, C. A., Angelman, H., Clayton‐Smith, J., Driscoll, D. J., Hendrickson, J. E., Knoll, J. H. M., Magenis, R. E., Schinzel, A., Wagstaff, J. E., Whidden, E. M., et al. (1995) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320560224 · Cited by 359 · see citing works

A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism

de Smith, A. J., Purmann, C., Walters, R. G., Ellis, R. J., Holder, S., van Haelst, M. M., Brady, A. F., Fairbrother, U. L., Dattani, M., Keogh, J. M., et al. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp263 · Cited by 356 · see citing works

PARENTAL ORIGIN OF CHROMOSOME 15 DELETION IN PRADER-WILLI SYNDROME

Butler, M. G. (1983) · The Lancet · doi:10.1016/s0140-6736(83)92745-9 · Cited by 345 · see citing works

Uniparental paternal disomy in Angelman's syndrome

Malcolm, S., Clayton‐Smith, J., Nichols, M. L., Pembrey, M. E., Armour, J. A. L., Jeffreys, A. J., Robb, S. A., & Webb, T. (1991) · The Lancet · doi:10.1016/0140-6736(91)90278-w · Cited by 331 · see citing works

An imprinted antisense RNA overlaps UBE3A and a second maternally expressed transcript

Rougeulle, C., Cardoso, C., Fontés, M., Colleaux, L., & Lalande, M. (1998) · Nature Genetics · doi:10.1038/ng0598-15 · Cited by 298 · see citing works

Behavioral differences among subjects with Prader-Willi syndrome and type I or type II deletion and maternal disomy

Butler, M. G., Bittel, D. C., Kibiryeva, N., Talebizadeh, Z., & Thompson, T. (2004) · Pediatrics · doi:10.1542/peds.113.3.565 · Cited by 298 · see citing works

Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader–Willi syndrome critical region

Özçelık, T., Leff, S. E., Robinson, W. P., Donlon, T. A., Lalande, M., Sanjines, E. M., Schinzel, A., & Francke, U. (1992) · Nature Genetics · doi:10.1038/ng1292-265 · Cited by 279 · see citing works

Chromosome Breakage in the Prader-Willi and Angelman Syndromes Involves Recombination between Large, Transcribed Repeats at Proximal and Distal Breakpoints

Amos-Landgraf, J. M., Ji, Y., Gottlieb, W., Depinet, T. W., Wandstrat, A. E., Cassidy, S. B., Driscoll, D. J., Rogan, P. K., Schwartz, S., & Nicholls, R. D. (1999) · The American Journal of Human Genetics · doi:10.1086/302510 · Cited by 278 · see citing works

Imprinting-Mutation Mechanisms in Prader-Willi Syndrome

Ohta, T., Gray, T. A., Rogan, P. K., Buiting, K., Gabriel, J. M., Saitoh, S., Muralidhar, B., Bilienska, B., Krajewska‐Walasek, M., Driscoll, D. J., et al. (1999) · The American Journal of Human Genetics · doi:10.1086/302233 · Cited by 276 · see citing works

Large genomic duplicons map to sites of instability in the Prader- Willi/Angelman syndrome chromosome region (15q11-q13)

Christian, S. L. (1999) · Human Molecular Genetics · doi:10.1093/hmg/8.6.1025 · Cited by 271 · see citing works

Intelligent linkage analysis using gene density estimates

Inglehearn, C. F. (1997) · Nature Genetics · doi:10.1038/ng0597-15 · Cited by 264 · see citing works

Comparison of phenotype between patients with Prader-Willi syndrome due to deletion 15q and uniparental disomy 15

Cassidy, S. B., Forsythe, M. E., Heeger, S., Nicholls, R. D., Schork, N. J., BENN, P. A., & Schwartz, S. (1997) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19970211)68:4 · Cited by 258 · see citing works

Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene

Dittrich, B., Buiting, K., Korn, B., Rickard, S. J., Buxton, J. L., Saitoh, S., Nicholls, R. D., Poustka, A., Winterpacht, A., Zabel, B., et al. (1996) · Nature Genetics · doi:10.1038/ng1096-163 · Cited by 253 · see citing works

Is angelman syndrome an alternate result of del(15)(qllql3)?

Magenis, R. E., Brown, M. G., Lacy, D. A., Budden, S. S., LAFRANCHI, S. H., Opitz, J. M., Reynolds, J. F., & Ledbetter, D. H. (1987) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320280407 · Cited by 240 · see citing works

Methylation-specif ic PCR simplifies imprinting analysis

Kubota, T., Das, S., Christian, S. L., Baylin, S. B., Herman, J. G., & Ledbetter, D. H. (1997) · Nature Genetics · doi:10.1038/ng0597-16 · Cited by 238 · see citing works

Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes.

Reis, A., Dittrich, B., Greger, V., Buiting, K., Lalande, M., Gillessen‐Kaesbach, G., Anvret, M., & Horsthemke, B. (1994) · PubMed Central · Cited by 221 · see citing works

Identification of Four Highly Conserved Genes between Breakpoint Hotspots BP1 and BP2 of the Prader-Willi/Angelman Syndromes Deletion Region That Have Undergone Evolutionary Transposition Mediated by Flanking Duplicons

Chai, J.-H., Locke, D. P., Greally, J. M., Knoll, J. H. M., Ohta, T., Dunai, J., Yavor, A., Eichler, E. E., & Nicholls, R. D. (2003) · The American Journal of Human Genetics · doi:10.1086/378816 · Cited by 218 · see citing works

Mutation Analysis of UBE3A in Angelman Syndrome Patients

Malzac, P., Webber, H. A., Moncla, A., Graham, J. M., Kukolich, M. K., Williams, C. A., Pagon, R. A., Ramsdell, L. A., Kishino, T., & Wagstaff, J. E. (1998) · The American Journal of Human Genetics · doi:10.1086/301877 · Cited by 218 · see citing works

Sporadic Imprinting Defects in Prader-Willi Syndrome and Angelman Syndrome: Implications for Imprint-Switch Models, Genetic Counseling, and Prenatal Diagnosis

Buiting, K., Dittrich, B., Groß, S., Lich, C., Färber, C., Buchholz, T., Smith, E., Reis, A., Bürger, J., Nöthen, M. M., et al. (1998) · The American Journal of Human Genetics · doi:10.1086/301935 · Cited by 216 · see citing works

NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6)

Rainier, S., Chai, J.-H., Tokarz, D., Nicholls, R. D., & Fink, J. K. (2003) · The American Journal of Human Genetics · doi:10.1086/378817 · Cited by 207 · see citing works

Maternal methylation imprints on human chromosome 15 are established during or after fertilization

El‐Maarri, O., Buiting, K., Peery, E. G., Kroisel, P. M., Balaban, B., Wagner, K., Urman, B., Heyd, J., Lich, C., Brannan, C. I., et al. (2001) · Nature Genetics · doi:10.1038/85927 · Cited by 204 · see citing works

The Prader–Willi Syndrome Imprinting Center Activates the Paternally Expressed Murine Ube3a Antisense Transcript but Represses Paternal Ube3a

Chamberlain, S. J., & Brannan, C. I. (2001) · Genomics · doi:10.1006/geno.2001.6543 · Cited by 204 · see citing works

Intellectual characteristics of Prader–Willi syndrome: comparison of genetic subtypes

Roof, E., Stone, W. L., MacLean, W. E., Feurer, I. D., Thompson, T., & Butler, M. G. (2000) · Journal of Intellectual Disability Research · doi:10.1046/j.1365-2788.2000.00250.x · Cited by 193 · see citing works

Angelman syndrome: Correlations between epilepsy phenotypes and genotypes

Minassian, B. A., DeLorey, T. M., Olsen, R. W., Philippart, M., Bronstein, Y. L., Zhang, Q., Guerrini, R., Ness, P. V., Livet, M. O., & Delgado‐Escueta, A. V. (1998) · Annals of Neurology · doi:10.1002/ana.410430412 · Cited by 190 · see citing works

An imprinted, mammalian bicistronic transcript encodes two independent proteins

Gray, T. A., Saitoh, S., & Nicholls, R. D. (1999) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.96.10.5616 · Cited by 189 · see citing works

Expression of 4 genes between chromosome 15 breakpoints 1 and 2 and behavioral outcomes in Prader-Willi syndrome

Bittel, D. C., Kibiryeva, N., & Butler, M. G. (2006) · Pediatrics · doi:10.1542/peds.2006-0424 · Cited by 188 · see citing works

Cognitive abilities and genotype in a population‐based sample of people with Prader–Willi syndrome

Whittington, J. E., Holland, A. J., Webb, T., Butler, J., Clarke, D., & Boer, H. (2004) · Journal of Intellectual Disability Research · doi:10.1111/j.1365-2788.2004.00556.x · Cited by 178 · see citing works

Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations.

Saitoh, S., Buiting, K., Rogan, P. K., Buxton, J. L., Driscoll, D. J., Arnemann, J., König, R., Malcolm, S., Horsthemke, B., & Nicholls, R. D. (1996) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.93.15.7811 · Cited by 178 · see citing works

Prader-Willi syndrome: Intellectual abilities and behavioural features by genetic subtype

Milner, K. M., Craig, E. E., Thompson, R. J., Veltman, M. W. M., Simon Thomas, N., Roberts, S., Bellamy, M., Curran, S. R., Sporikou, C. M. J., & Bolton, P. F. (2005) · Journal of Child Psychology and Psychiatry · doi:10.1111/j.1469-7610.2005.01520.x · Cited by 177 · see citing works

A Single-Tube PCR Test for the Diagnosis of Angelman and Prader-Willi Syndrome Based on Allelic Methylation Differences at the SNRPN Locus

Zeschnigk, M., Lich, C., Buiting, K., Doerfler, W., & Horsthemke, B. (1997) · European Journal of Human Genetics · doi:10.1159/000484740 · Cited by 175 · see citing works

Clinical heterogeneity associated with deletions in the long arm of chromosome 15: Report of 3 new cases and their possible genetic significance

Kaplan, L. C., Wharton, R. H., Elias, E. R., Mandell, F., Donlon, T. A., Latt, S. A., Opitz, J. M., & Reynolds, J. F. (1987) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320280107 · Cited by 172 · see citing works

Maternal meiosis I non-disjunction of chromosome 15: dependence of the maternal age effect on level of recombination

Robinson, W. P. (1998) · Human Molecular Genetics · doi:10.1093/hmg/7.6.1011 · Cited by 167 · see citing works

Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances.

Doornbos, M., Sikkema-Raddatz, B., Ruijvenkamp, C. A. L., Dijkhuizen, T., Bijlsma, E. K., Gijsbers, A. C. J., Hilhorst-Hofstee, Y., Hordijk, R., Verbruggen, K. T., Kerstjens-Frederikse, W. S. (., et al. (2009) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2009.03.010 · Cited by 165 · see citing works

Restriction fragment length polymorphisms within proximal 15q and their use in molecular cytogenetics and the Prader‐Willi syndrome

Nicholls, R. D., Knoll, J. H. M., Glatt, K. A., Hersh, J. H., Brewster, T. D., Graham, J. M., Wurster‐Hill, D. H., Wharton, R. H., & Latt, S. A. (1989) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320330109 · Cited by 155 · see citing works

Are jigsaw puzzle skills `spared' in persons with Prader‐Willi syndrome?

Dykens, E. M. (2002) · Journal of Child Psychology and Psychiatry · doi:10.1111/1469-7610.00025 · Cited by 154 · see citing works

Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: Molecular characterization and genotype-phenotype correlations

Sahoo, T., Bacino, C. A., German, J. R., Shaw, C. A., Bird, L. M., Kimonis, V., Anselm, I., Waisbren, S., Beaudet, A. L., & Peters, S. U. (2007) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201859 · Cited by 152 · see citing works

A novel maternally expressed gene, ATP10C, encodes a putative aminophospholipid translocase associated with Angelman syndrome

Meguro, M., Kashiwagi, A., Mitsuya, K., Nakao, M., Kondo, I., Saitoh, S., & Oshimura, M. (2001) · Nature Genetics · doi:10.1038/ng0501-19 · Cited by 152 · see citing works

De novo deletions of SNRPN exon 1 in early human and mouse embryos result in a paternal to maternal imprint switch

Bielińska, B., Blaydes, S. M., Buiting, K., Yang, T., Krajewska‐Walasek, M., Horsthemke, B., & Brannan, C. I. (2000) · Nature Genetics · doi:10.1038/75629 · Cited by 145 · see citing works

Modification of 15q11 — q13 DNA methylation imprints in unique Angelman and Prader — Willi patients

Glenn, C. C., Nicholls, R. D., Robinson, W. P., Saitoh, S., Nllkawa, N., Schlnzel, A., Horsthemke, B., & Driscoll, D. J. (1993) · Human Molecular Genetics · doi:10.1093/hmg/2.9.1377 · Cited by 137 · see citing works

Prader-Willi syndrome

Veltman, M. W. M., Thompson, R. J., Roberts, S. E., Thomas, N. S., Whittington, J. E., & Bolton, P. (2004) · European Child & Adolescent Psychiatry · doi:10.1007/s00787-004-0354-6 · Cited by 134 · see citing works

A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader–Willi syndrome

Kanber, D., Giltay, J. C., Wieczorek, D., Zogel, C., Hochstenbach, R., Caliebe, A., Kuechler, A., Horsthemke, B., & Buiting, K. (2008) · European Journal of Human Genetics · doi:10.1038/ejhg.2008.232 · Cited by 134 · see citing works

Angelman syndrome: Mimicking conditions and phenotypes

Williams, C. A., Lossie, A. C., Driscoll, D. J., & Unit, T. R. C. P. (2001) · American Journal of Medical Genetics · doi:10.1002/ajmg.1316 · Cited by 130 · see citing works

Genotype-phenotype correlation in a series of 167 deletion and non-deletion patients with Prader-Willi syndrome

Gillessen‐Kaesbach, G., Robinson, W. P., Lohmann, D. R., Kaya, S., Passarge, E., & Horsthemke, B. (1995) · Human Genetics · doi:10.1007/bf00210291 · Cited by 119 · see citing works

Impact of molecular mechanisms, including deletion size, on Prader-Willi syndrome phenotype: Study of 75 patients

Varela, M., Kok, F., Setian, N., Kim, C., & Koiffmann, C. (2005) · Clinical Genetics · doi:10.1111/j.1399-0004.2005.00377.x · Cited by 117 · see citing works

Psychotic disorders in Prader–Willi syndrome

Vogels, A., Hert, M. A. F. D., Descheemaeker, M., Govers, V., Devriendt, K., Legius, E., Prinzie, P., & Fryns, J. P. (2004) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30004 · Cited by 114 · see citing works

An additional mitochondrial tRNAIle point mutation (A-to-G at nucleotide 4295) causing hypertrophic cardiomyopathy

Merante, F., Myint, T., Tein, I., Benson, L. N., & Robinson, B. H. (1996) · Human Mutation · doi:10.1002/(sici)1098-1004(1996)8:3 · Cited by 111 · see citing works

Evidence for the Role of PWCR1/HBII-85 C/D Box Small Nucleolar RNAs in Prader-Willi Syndrome

Gallagher, R. C., Pils, B., Albalwi, M., & Francke, U. (2002) · The American Journal of Human Genetics · doi:10.1086/342408 · Cited by 109 · see citing works

Somatic segregation errors predominantly contribute to the gain or loss of a paternal chromosome leading to uniparental disomy for chromosome 15

Robinson, W. P., Christian, S. L., Kuchinka, B. D., Peñaherrera, M. S., Das, S., Schuffenhauer, S., MALCOLM, S., Schinzel, A., Hassold, T. J., & Ledbetter, D. H. (2000) · Clinical Genetics · doi:10.1034/j.1399-0004.2000.570505.x · Cited by 105 · see citing works

The Human Aminophospholipid-Transporting ATPase Gene ATP10C Maps Adjacent to UBE3A and Exhibits Similar Imprinted Expression

Herzing, L. B. K., Kim, S., Cook, E. H., & Ledbetter, D. H. (2001) · The American Journal of Human Genetics · doi:10.1086/320616 · Cited by 101 · see citing works

A 5-kb imprinting center deletion in a family with Angelman syndrome reduces the shortest region of deletion overlap to 880 bp

Buiting, K., Lich, C., Cottrell, S., Barnicoat, A. J., & Horsthemke, B. (1999) · Human Genetics · doi:10.1007/s004399900196 · Cited by 100 · see citing works

Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader?Willi syndrome

Runte, M., Varon, R., Horn, D., Horsthemke, B., & Buiting, K. (2004) · Human Genetics · doi:10.1007/s00439-004-1219-2 · Cited by 98 · see citing works

Similar molecular deletions on chromosome 15q11.2 are encountered in both the Prader-Willi and Angelman syndromes

Donlon, T. A. (1988) · Human Genetics · doi:10.1007/bf00273644 · Cited by 97 · see citing works

DNA deletion and its parental origin in Angelman syndrome patients

Hamabe, J., Kuroki, Y., Imaizumi, K., Sugimoto, T., Fukushima, Y., Yamaguchi, A., Izumikawa, Y., & Niikawa, N. (1991) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320410117 · Cited by 97 · see citing works

snoTARGET shows that human orphan snoRNA targets locate close to alternative splice junctions

Bazeley, P. S., Shepelev, V., Talebizadeh, Z., Butler, M. G., Fedorova, L. V., Filatov, V., & Fedorov, A. N. (2007) · Gene · doi:10.1016/j.gene.2007.10.037 · Cited by 96 · see citing works

Molecular Mechanism of Angelman Syndrome in Two Large Families Involves an Imprinting Mutation

Ohta, T., Buiting, K., Kokkonen, H., McCandless, S. E., Heeger, S., Leisti, H., Driscoll, D. J., Cassidy, S. B., Horsthemke, B., & Nicholls, R. D. (1999) · The American Journal of Human Genetics · doi:10.1086/302232 · Cited by 88 · see citing works

Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint

Schulze, A., Hansen, C., Skakkebæk, N. E., Brøndum‐Nielsen, K., Ledbetter, D. H., & Tommerup, N. (1996) · Nature Genetics · doi:10.1038/ng0496-452 · Cited by 83 · see citing works

Somatic mosaicism in patients with Angelman syndrome and an imprinting defect

Nazlican, H., Zeschnigk, M., Claussen, U., Michel, S., Böehringer, S., Gillessen‐Kaesbach, G., Buiting, K., & Horsthemke, B. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddh296 · Cited by 82 · see citing works

Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient

Sun, Y. (1996) · Human Molecular Genetics · doi:10.1093/hmg/5.4.517 · Cited by 82 · see citing works

Array comparative genomic hybridization (aCGH) analysis in Prader–Willi syndrome

Butler, M. G., Fischer, W., Kibiryeva, N., & Bittel, D. C. (2008) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32249 · Cited by 81 · see citing works

Inter- and Intrachromosomal Rearrangements Are Both Involved in the Origin of 15q11-q13 Deletions in Prader-Willi Syndrome

Carrozzo, R., Rossi, E. G., Christian, S. L., Kittikamron, K., Livieri, C., Corrias, A., Pucci, L., Fois, A., Bosio, L., Simi, P., et al. (1997) · The American Journal of Human Genetics · doi:10.1086/513907 · Cited by 81 · see citing works

A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect

Gillessen‐Kaesbach, G., Demuth, S., Thiele, H., Theile, U., Lich, C., & Horsthemke, B. (1999) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5200362 · Cited by 80 · see citing works

Prader-Willi Syndrome Is Caused by Disruption of the SNRPN Gene

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