Online Mendelian Inheritance in Man (OMIM) (original) (raw)

  1. American Society of Human Genetics/American College of Medical Genetics Test and Technology Transfer Committee.Diagnostic testing for Prader-Willi and Angelman syndromes. Am. J. Hum. Genet. 58: 1085-1088, 1996. [PubMed: 8651269]
  2. Amos-Landgraf, J. M., Ji, Y., Gottlieb, W., Depinet, T., Wandstrat, A. E., Cassidy, S. B., Driscoll, D. J., Rogan, P. K., Schwartz, S., Nicholls, R. D.Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints. Am. J. Hum. Genet. 65: 370-386, 1999. [PubMed: 10417280] [Full Text: https://doi.org/10.1086/302510\]
  3. Bhargava, S. A., Putnam, P. E., Kocoshis, S. A., Rowe, M., Hanchett, J. M.Rectal bleeding in Prader-Willi syndrome. Pediatrics 97: 265-267, 1996. [PubMed: 8584392]
  4. Bielinska, B., Blaydes, S. M., Buiting, K., Yang, T., Krajewska-Walasek, M., Horsthemke, B., Brannan, C. I.De novo deletions of SNRPN exon 1 in early human and mouse embryos result in a paternal to maternal imprint switch. Nature Genet. 25: 74-78, 2000. Note: Erratum: Nature Genet. 25: 241 only, 2000. [PubMed: 10802660] [Full Text: https://doi.org/10.1038/75629\]
  5. Bieth, E., Eddiry, S., Gaston, V., Lorenzini, F., Buffet, A., Auriol, F. C., Molinas, C., Cailley, D., Rooryck, C., Arveiler, B., Cavaille, J., Salles, J. P., Tauber, M.Highly restricted deletion of the SNORD116 region is implicated in Prader-Willi syndrome. Europ. J. Hum. Genet. 23: 252-255, 2015. [PubMed: 24916642] [Full Text: https://doi.org/10.1038/ejhg.2014.103\]
  6. Bittel, D. C., Kibiryeva, N., Talebizadeh, Z., Butler, M. G.Microarray analysis of gene/transcript expression in Prader-Willi syndrome: deletion versus UPD. J. Med. Genet. 40: 568-574, 2003. [PubMed: 12920063] [Full Text: https://doi.org/10.1136/jmg.40.8.568\]
  7. Boccaccio, I., Glatt-Deeley, H., Watrin, F., Roeckel, N., Lalande, M., Muscatelli, F.The human MAGEL2 gene and its mouse homologue are paternally expressed and mapped to the Prader-Willi region. Hum. Molec. Genet. 8: 2497-2505, 1999. [PubMed: 10556298] [Full Text: https://doi.org/10.1093/hmg/8.13.2497\]
  8. Boer, H., Holland, A., Whittington, J., Butler, J., Webb, T., Clarke, D.Psychotic illness in people with Prader Willi syndrome due to chromosome 15 maternal uniparental disomy. Lancet 359: 135-136, 2002. [PubMed: 11809260] [Full Text: https://doi.org/10.1016/S0140-6736(02)07340-3\]
  9. Brain, R. T.Historical introduction. In: Wolstenholme, G. E. W.; Porter, R. (eds.): Mongolism. Boston: Little, Brown and Co. (pub.) 1967. Pp. 1-5.
  10. Bray, G. A., Dahms, W. T., Swerdloff, R. S., Fiser, R. H., Atkinson, R. L., Carrel, R. E.The Prader-Willi syndrome: a study of 40 patients and a review of the literature. Medicine 62: 59-80, 1983. [PubMed: 6338343]
  11. Buhler, E. M., Rossier, R., Bodis, I., Vulliet, V., Buhler, U. K., Stalder, G.Chromosomal translocation in a mentally deficient child with cryptorchidism. Acta Paediat. (Stockh.) 52: 177-182, 1963.
  12. Buiting, K., Dittrich, B., Gross, S., Greger, V., Lalande, M., Robinson, W., Mutirangura, A., Ledbetter, D., Horsthemke, B.Molecular definition of the Prader-Willi syndrome chromosome region and orientation of the SNRPN gene. Hum. Molec. Genet. 2: 1991-1994, 1993. [PubMed: 8111365] [Full Text: https://doi.org/10.1093/hmg/2.12.1991\]
  13. Buiting, K., Dittrich, B., Gross, S., Lich, C., Farber, C., Buchholz, T., Smith, E., Reis, A., Burger, J., Nothen, M. M., Barth-Witte, U., Janssen, B., and 22 others.Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis. Am. J. Hum. Genet. 63: 170-180, 1998. [PubMed: 9634532] [Full Text: https://doi.org/10.1086/301935\]
  14. Buiting, K., Greger, V., Brownstein, B. H., Mohr, R. M., Voiculescu, I., Winterpacht, A., Zabel, B., Horsthemke, B.A putative gene family in 15q11-13 and 16p11.2: possible implications for Prader-Willi and Angelman syndromes. Proc. Nat. Acad. Sci. 89: 5457-5461, 1992. [PubMed: 1608955] [Full Text: https://doi.org/10.1073/pnas.89.12.5457\]
  15. Buiting, K., Gross, S., Lich, C., Gillessen-Kaesbach, G., El-Maarri, O., Horsthemke, B.Epimutations in Prader-Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defect. Am. J. Hum. Genet. 72: 571-577, 2003. [PubMed: 12545427] [Full Text: https://doi.org/10.1086/367926\]
  16. Burd, L., Vesely, B., Martsolf, J., Kerbeshian, J.Prevalence study of Prader-Willi syndrome in North Dakota. Am. J. Med. Genet. 37: 97-99, 1990. [PubMed: 2240051] [Full Text: https://doi.org/10.1002/ajmg.1320370122\]
  17. Burke, C. M., Kousseff, B. G., Gleeson, M., O'Connell, B. M., Devlin, J. G.Familial Prader-Willi syndrome. Arch. Intern. Med. 147: 673-675, 1987. [PubMed: 3827455]
  18. Butler, M. G., Kaler, S. G., Yu, P. L., Meaney, F. J.Metacarpophalangeal pattern profile analysis in Prader-Willi syndrome. Clin. Genet. 22: 315-320, 1982. [PubMed: 7160103] [Full Text: https://doi.org/10.1111/j.1399-0004.1982.tb01846.x\]
  19. Butler, M. G., Manzardo, A. M., Heinemann, J., Loker, C., Loker, J.Causes of death in Prader-Willi syndrome: Prader-Willi Syndrome Association (USA) 40-year mortality survey. Genet. Med. 19: 635-642, 2017. [PubMed: 27854358] [Full Text: https://doi.org/10.1038/gim.2016.178\]
  20. Butler, M. G., Meaney, F. J., Kaler, S. G., Yu, P. L., Palmer, C. G.Clinical differences between chromosome 15q deletion and nondeletion Prader-Willi individuals. (Abstract) Am. J. Hum. Genet. 34: 119A only, 1982.
  21. Butler, M. G., Meaney, F. J., Palmer, C. G.Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome. Am. J. Med. Genet. 23: 793-809, 1986. [PubMed: 3953677] [Full Text: https://doi.org/10.1002/ajmg.1320230307\]
  22. Butler, M. G., Meaney, F. J.An anthropometric study of 38 individuals with Prader-Labhart-Willi syndrome. Am. J. Med. Genet. 26: 445-455, 1987. [PubMed: 3812595] [Full Text: https://doi.org/10.1002/ajmg.1320260224\]
  23. Butler, M. G., Palmer, C. G.Parental origin of chromosome 15 deletion in Prader-Willi syndrome. (Letter) Lancet 321: 1285-1286, 1983. Note: Originally Volume I. [PubMed: 6134086] [Full Text: https://doi.org/10.1016/s0140-6736(83)92745-9\]
  24. Butler, M. G., Palmer, C. G.Paternal origin of chromosome 15 deletion in Prader-Willi syndrome. (Abstract) Am. J. Hum. Genet. 35: 128A only, 1983.
  25. Butler, M. G.Hypopigmentation: a common feature of Prader-Labhart-Willi syndrome. Am. J. Hum. Genet. 45: 140-146, 1989. [PubMed: 2741944]
  26. Butler, M. G.Prader-Willi syndrome: current understanding of cause and diagnosis. Am. J. Med. Genet. 35: 319-332, 1990. [PubMed: 2309779] [Full Text: https://doi.org/10.1002/ajmg.1320350306\]
  27. Carpenter, P. K.Prader-Willi syndrome in old age. J. Intellect. Disabil. Res. 38: 529-531, 1994. [PubMed: 7841690] [Full Text: https://doi.org/10.1111/j.1365-2788.1994.tb00441.x\]
  28. Carrel, A. L., Myers, S. E., Whitman, B. Y., Allen, D. B.Growth hormone improves body composition, fat utilization, physical strength and agility, and growth in Prader-Willi syndrome: a controlled study. J. Pediat. 134: 215-221, 1999. [PubMed: 9931532] [Full Text: https://doi.org/10.1016/s0022-3476(99)70418-x\]
  29. Carrel, A. L., Myers, S. E., Whitman, B. Y., Allen, D. B.Benefits of long-term GH therapy in Prader-Willi syndrome: a 4-year study. J. Clin. Endocr. Metab. 87: 1581-1585, 2002. [PubMed: 11932286] [Full Text: https://doi.org/10.1210/jcem.87.4.8414\]
  30. Carrozzo, R., Rossi, E., Christian, S. L., Kittikamron, K., Livieri, C., Corrias, A., Pucci, L., Fois, A., Simi, P., Bosio, L., Beccaria, L., Zuffardi, O., Ledbetter, D. H.Inter- and intrachromosomal rearrangements are both involved in the origin of 15q11-q13 deletions in Prader-Willi syndrome. (Letter) Am. J. Hum. Genet. 61: 228-231, 1997. [PubMed: 9246004] [Full Text: https://doi.org/10.1086/513907\]
  31. Cassidy, S. B., Forsythe, M., Heeger, S., Nicholls, R. D., Schork, N., Benn, P., Schwartz, S.Comparison of phenotype between patients with Prader-Willi syndrome due to deletion 15q and uniparental disomy 15. Am. J. Med. Genet. 68: 433-440, 1997. [PubMed: 9021017]
  32. Cassidy, S. B., Gainey, A. J., Butler, M. G.Occupational hydrocarbon exposure among fathers of Prader-Willi syndrome patients with and without deletions of 15q. Am. J. Hum. Genet. 44: 806-810, 1989. [PubMed: 2729276]
  33. Cassidy, S. B., Lai, L.-W., Erickson, R. P., Magnuson, L., Thomas, E., Gendron, R., Herrmann, J.Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy. Am. J. Hum. Genet. 51: 701-708, 1992. [PubMed: 1357962]
  34. Cassidy, S. B., McKillop, J. A.Temperature regulation in Prader-Willi syndrome. (Abstract) Am. J. Med. Genet. 41: 528 only, 1991.
  35. Cassidy, S. B., Schwartz, S.Prader-Willi and Angelman syndromes: disorders of genomic imprinting. Medicine 77: 140-151, 1998. [PubMed: 9556704] [Full Text: https://doi.org/10.1097/00005792-199803000-00005\]
  36. Cassidy, S. B., Thuline, H. C., Holm, V. A.Deletion of chromosome 15(q11-13) in a Prader-Labhart-Willi syndrome clinic population. Am. J. Med. Genet. 17: 485-495, 1984. [PubMed: 6336316] [Full Text: https://doi.org/10.1002/ajmg.1320170211\]
  37. Cassidy, S. B.Prader-Willi syndrome: characteristics, management, and etiology. Ala. J. Med. Sci. 24: 169-175, 1987. [PubMed: 3578708]
  38. Cassidy, S. B.Recurrence risk in Prader-Willi syndrome. (Letter) Am. J. Med. Genet. 28: 59-60, 1987. [PubMed: 3674119] [Full Text: https://doi.org/10.1002/ajmg.1320280109\]
  39. Cassidy, S. B.Prader-Willi syndrome. J. Med. Genet. 34: 917-923, 1997. [PubMed: 9391886] [Full Text: https://doi.org/10.1136/jmg.34.11.917\]
  40. Chamberlain, S. J., Johnstone, K. A., DuBose, A. J., Simon, T. A., Bartolomei, M. S., Resnick, J. L., Brannan, C. I.Evidence for genetic modifiers of postnatal lethality in PWS-IC deletion mice. Hum. Molec. Genet. 13: 2971-2977, 2004. [PubMed: 15459179] [Full Text: https://doi.org/10.1093/hmg/ddh314\]
  41. Charrow, J., Balkin, N., Cohen, M. M.Translocations in Prader-Willi syndrome. Clin. Genet. 23: 304-307, 1983. [PubMed: 6851221] [Full Text: https://doi.org/10.1111/j.1399-0004.1983.tb01881.x\]
  42. Chitayat, D., Davis, E. B., McGillivray, B. C., Hayden, M. R., Hall, J. G.Perinatal and first year follow-up of patients with Prader-Willi syndrome: normal size of hands and feet. Clin. Genet. 35: 161-166, 1989. [PubMed: 2706799] [Full Text: https://doi.org/10.1111/j.1399-0004.1989.tb02923.x\]
  43. Clarren, S. K., Smith, D. W.Prader-Willi syndrome: variable severity and recurrence risk. Am. J. Dis. Child. 131: 798-800, 1977. [PubMed: 879118] [Full Text: https://doi.org/10.1001/archpedi.1977.02120200080018\]
  44. Clayton-Smith, J., Driscoll, D. J., Waters, M. F., Webb, T., Andrews, T., Malcolm, S., Pembrey, M. E., Nicholls, R. D.Difference in methylation patterns within the D15S9 region of chromosome 15q11-13 in first cousins with Angelman syndrome and Prader-Willi syndrome. Am. J. Med. Genet. 47: 683-686, 1993. [PubMed: 8266996] [Full Text: https://doi.org/10.1002/ajmg.1320470519\]
  45. Creel, D. J., Bendel, C. M., Wiesner, G. L., Wirtschafter, J. D., Arthur, D. C., King, R. A.Abnormalities of the central visual pathways in Prader-Willi syndrome associated with hypopigmentation. New Eng. J. Med. 314: 1606-1609, 1986. [PubMed: 3713758] [Full Text: https://doi.org/10.1056/NEJM198606193142503\]
  46. Curfs, L. M. G., Verhulst, F. C., Fryns, J. P.Behavioral and emotional problems in youngsters with Prader-Willi syndrome. Genetic Counseling 2: 33-41, 1991. [PubMed: 1741975]
  47. Curfs, L. M. G., Wiegers, A. M., Sommers, J. R. M., Borghgraef, M., Fryns, J. P.Strengths and weaknesses in the cognitive profile of youngsters with Prader-Willi syndrome. Clin. Genet. 40: 430-434, 1991. [PubMed: 1778005] [Full Text: https://doi.org/10.1111/j.1399-0004.1991.tb03114.x\]
  48. Davies, H. D., Leusink, G. L., McConnell, A., Deyell, M., Cassidy, S. B., Fick, G. H., Coppes, M. J.Myeloid leukemia in Prader-Willi syndrome. J. Pediat. 142: 174-178, 2003. [PubMed: 12584540] [Full Text: https://doi.org/10.1067/mpd.2003.81\]
  49. de Lind van Wijngaarden, R. F. A., Otten, B. J., Festen, D. A. M., Joosten, K. F. M., de Jong, F. H., Sweep, F. C. G. J., Hokken-Koelega, A. C. S.High prevalence of central adrenal insufficiency in patients with Prader-Willi syndrome. J. Clin. Endocr. Metab. 93: 1649-1654, 2008. [PubMed: 18303077] [Full Text: https://doi.org/10.1210/jc.2007-2294\]
  50. de Smith, A. J., Purmann, C., Walters, R. G., Ellis, R. J., Holder, S. E., Van Haelst, M. M., Brady, A. F., Fairbrother, U. L., Dattani, M., Keogh, J. M., Henning, E., Yeo, G. S. H., O'Rahilly, S., Froguel, P., Farooqi, I. S., Blakemore, A. I. F.A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism. Hum. Molec. Genet. 18: 3257-3265, 2009. [PubMed: 19498035] [Full Text: https://doi.org/10.1093/hmg/ddp263\]
  51. DeFraites, E. B., Thurmon, T. F., Farhadian, H.Familial Prader-Willi syndrome. In: Bergsma, D.: Genetic Forms of Hypogonadism. New York: National Foundation-March of Dimes (pub.) 1975. Pp. 123-126.
  52. Delparigi, A., Tschop, M., Heiman, M. L., Salbe, A. D., Vozarova, B., Sell, S. M., Bunt, J. C., Tataranni, P. A.High circulating ghrelin: a potential cause for hyperphagia and obesity in Prader-Willi syndrome. J. Clin. Endocr. Metab. 87: 5461-5464, 2002. [PubMed: 12466337] [Full Text: https://doi.org/10.1210/jc.2002-020871\]
  53. Devriendt, K., Petit, P., Matthijs, G., Vermeesch, J. R., Holvoet, M., De Muelenaere, A., Marynen, P., Cassiman, J.-J., Fryns, J.-P.Trisomy 15 rescue with jumping translocation of distal 15q in Prader-Willi syndrome. J. Med. Genet. 34: 395-399, 1997. [PubMed: 9152837] [Full Text: https://doi.org/10.1136/jmg.34.5.395\]
  54. Dittrich, B., Robinson, W. P., Knoblauch, H., Buiting, K., Schmidt, K., Gillessen-Kaesbach, G., Horsthemke, B.Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13. Hum. Genet. 90: 313-315, 1992. [PubMed: 1487250] [Full Text: https://doi.org/10.1007/BF00220089\]
  55. Donlon, T. A., Lalande, M., Wyman, A., Bruns, G., Latt, S. A.Isolation of molecular probes associated with the chromosome 15 instability in the Prader-Willi syndrome. Proc. Nat. Acad. Sci. 83: 4408-4412, 1986. Note: Erratum: Proc. Nat. Acad. Sci. 83: 6964 only, 1986. [PubMed: 3012567] [Full Text: https://doi.org/10.1073/pnas.83.12.4408\]
  56. Down, J. L.Mental Affections of Childhood and Youth. London: Churchill (pub.) 1887. P. 172.
  57. Driscoll, D. J., Waters, M. F., Williams, C. A., Zori, R. T., Glenn, C. C., Avidano, K. M., Nicholls, R. D.A DNA methylation imprint, determined by the sex of the parent, distinguishes the Angelman and Prader-Willi syndromes. Genomics 13: 917-924, 1992. [PubMed: 1505981] [Full Text: https://doi.org/10.1016/0888-7543(92)90001-9\]
  58. Duckett, D. P., Roberts, S. H., Davies, P.Unbalanced reciprocal translocations in cases of Prader-Willi syndrome. Hum. Genet. 67: 156-161, 1984. [PubMed: 6336319] [Full Text: https://doi.org/10.1007/BF00272991\]
  59. Dunn, H. G.The Prader-Labhart-Willi syndrome: review of the literature and report of nine cases. Acta Paediat. Scand. Suppl. 186: 3-38, 1968. [PubMed: 5728638] [Full Text: https://doi.org/10.1111/j.1651-2227.1968.tb06038.x\]
  60. Eiholzer, U., Blum, W. F., Molinari, L.Body fat determined by skinfold measurements is elevated despite underweight in infants with Prader-Labhart-Willi syndrome. J. Pediat. 134: 222-225, 1999. [PubMed: 9931533] [Full Text: https://doi.org/10.1016/s0022-3476(99)70419-1\]
  61. Faivre, L., Cormier-Daire, V., Lapierre, J. M., Colleaux, L., Jacquemont, S., Genevieve, D., Saunier, P., Munnich, A., Turleau, C., Romana, S., Prieur, M., de Blois, M. C., Vekemans, M.Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype. (Letter) J. Med. Genet. 39: 594-596, 2002. Note: Erratum: J. Med. Genet. 41: 320 only, 2004. [PubMed: 12161602] [Full Text: https://doi.org/10.1136/jmg.39.8.594\]
  62. Fan, Z., Greenwood, R., Fisher, A., Pendyal, S., Powell, C. M.Characteristics and frequency of seizure disorder in 56 patients with Prader-Willi syndrome. (Letter) Am. J. Med. Genet. 149A: 1581-1584, 2009. [PubMed: 19533781] [Full Text: https://doi.org/10.1002/ajmg.a.32934\]
  63. Feigerlova, E., Diene, G., Conte-Auriol, F., Molinas, C., Gennero, I., Salles, J.-P., Arnaud, C., Tauber, M.Hyperghrelinemia precedes obesity in Prader-Willi syndrome. J. Clin. Endocr. Metab. 93: 2800-2805, 2008. [PubMed: 18460565] [Full Text: https://doi.org/10.1210/jc.2007-2138\]
  64. Fernandez, F., Berry, C., Mutton, D.Prader-Willi syndrome in siblings, due to unbalanced translocation between chromosomes 15 and 22. Arch. Dis. Child. 62: 841-843, 1987. [PubMed: 3662590] [Full Text: https://doi.org/10.1136/adc.62.8.841\]
  65. Festen, D. A. M., de Weerd, A. W., van den Bossche, R. A. S., Joosten, K., Hoeve, H., Hokken-Koelega, A. C. S.Sleep-related breathing disorders in prepubertal children with Prader-Willi syndrome and effects of growth hormone treatment. J. Clin. Endocr. Metab. 91: 4911-4915, 2006. [PubMed: 17003096] [Full Text: https://doi.org/10.1210/jc.2006-0765\]
  66. Fonkalsrud, E. W., Bray, G.Vagotomy for treatment of obesity in childhood due to Prader-Willi syndrome. J. Pediat. Surg. 16: 888-889, 1981. [PubMed: 7338771] [Full Text: https://doi.org/10.1016/s0022-3468(81)80841-x\]
  67. Fraccaro, M., Zuffardi, O., Buhler, E., Schinzel, A., Simoni, G., Witkowski, R., Bonifaci, E., Caufin, D., Cignacco, G., Delendi, N., Gargantini, L., Losanowa, T., Marca, L., Ullrich, E., Vigi, V.Deficiency, transposition, and duplication of one 15q region may be alternatively associated with Prader-Willi (or a similar) syndrome: analysis of seven cases after varying ascertainment. Hum. Genet. 64: 388-394, 1983. [PubMed: 6618490] [Full Text: https://doi.org/10.1007/BF00292373\]
  68. Fryns, J. P.The Prader-Willi syndrome and the Sotos syndrome: syndromes or sequences? (Letter) Clin. Genet. 33: 457-458, 1988. [PubMed: 3168318] [Full Text: https://doi.org/10.1111/j.1399-0004.1988.tb03481.x\]
  69. Fryns, J.-P., Bettens, W., Van den Berghe, H.Distal deletion of the long arm of chromosome 6: a specific phenotype? Am. J. Med. Genet. 24: 175-178, 1986. [PubMed: 3706405] [Full Text: https://doi.org/10.1002/ajmg.1320240122\]
  70. Fuhrmann-Rieger, A., Kohler, A., Fuhrmann, W.Duplication or insertion in 15q11-13 associated with mental retardation--short stature and obesity--Prader-Willi or Cohen syndrome? Clin. Genet. 25: 347-352, 1984. [PubMed: 6713711] [Full Text: https://doi.org/10.1111/j.1399-0004.1984.tb02002.x\]
  71. Fujita, H., Sakamoto, Y., Hamamoto, Y.An extra idic(15p)(q11) chromosome in Prader-Willi syndrome. Hum. Genet. 55: 409-411, 1980. [PubMed: 6162774] [Full Text: https://doi.org/10.1007/BF00290227\]
  72. Fulmer-Smentek, S. B., Francke, U.Association of acetylated histones with paternally expressed genes in the Prader-Willi deletion region. Hum. Molec. Genet. 10: 645-652, 2001. [PubMed: 11230184] [Full Text: https://doi.org/10.1093/hmg/10.6.645\]
  73. Futterweit, W., Ritch, R., Teekhasaenee, C., Nelson, E. S.Coexistence of Prader-Willi syndrome, congenital ectropion uveae with glaucoma, and factor XI deficiency. JAMA 255: 3280-3282, 1986. [PubMed: 3086578]
  74. Gabilan, J. C., Royer, P.Le syndrome de Prader, Labhardt et Willi (etude de onze observations). Arch. Franc. Pediat. 25: 121-149, 1968. [PubMed: 4386467]
  75. Gabilan, J. C.Syndrome de Prader, Labhardt et Willi. J. Pediat. (Paris) 1: 179, 1962.
  76. Gabriel, J. M., Merchant, M., Ohta, T., Ji, Y., Caldwell, R. G., Ramsey, M. J., Tucker, J. D., Longnecker, R., Nicholls, R. D.A transgene insertion creating a heritable chromosome deletion mouse model of Prader-Willi and Angelman syndromes. Proc. Nat. Acad. Sci. 96: 9258-9263, 1999. [PubMed: 10430930] [Full Text: https://doi.org/10.1073/pnas.96.16.9258\]
  77. Gilhuis, H. J., van Ravenswaaij, C. M., Hamel, B. J. C., Gabreels, F. J. M.Interstitial 6q deletion with a Prader-Willi-like phenotype: a new case and review of the literature. Europ. J. Paediat. Neurol. 4: 39-43, 2000. [PubMed: 10701104] [Full Text: https://doi.org/10.1053/ejpn.1999.0259\]
  78. Glenn, C. C., Nicholls, R. D., Robinson, W. P., Saitoh, S., Niikawa, N., Schinzel, A., Horsthemke, B., Driscoll, D. J.Modification of the DNA methylation imprint in unique Angelman and Prader-Willi patients. Hum. Molec. Genet. 2: 1377-1382, 1993. [PubMed: 8242060] [Full Text: https://doi.org/10.1093/hmg/2.9.1377\]
  79. Gold, J.-A., Ruth, C., Osann, K., Flodman, P., McManus, B., Lee, H.-S., Donkervoort, S., Khare, M., Roof, E., Dykens, E., Miller, J. L., Driscoll, D. J., Butler, M. G., Heinemann, J., Cassidy, S., Kimonis, V. E.Frequency of Prader-Willi syndrome in births conceived via assisted reproductive technology. Genet. Med. 16: 164-169, 2014. Note: Erratum: Genet. Med. 15: 912 only, 2013. [PubMed: 23928912] [Full Text: https://doi.org/10.1038/gim.2013.97\]
  80. Greenstein, M. A.Prader-Willi and Angelman syndromes in one kindred with expression consistent with genetic imprinting. (Abstract) Am. J. Hum. Genet. 47 (suppl.): A59 only, 1990.
  81. Greenswag, L. R.Adults with Prader-Willi syndrome: a survey of 232 cases. Dev. Med. Child Neurol. 29: 145-152, 1987. [PubMed: 3582784] [Full Text: https://doi.org/10.1111/j.1469-8749.1987.tb02129.x\]
  82. Gregory, C. A., Kirkilionis, A. J., Greenberg, C. R., Chudley, A. E., Hamerton, J. L.Detection of molecular rearrangements in Prader-Willi syndrome patients by using genomic probes recognizing four loci within the PWCR. Am. J. Med. Genet. 35: 536-545, 1990. [PubMed: 1970703] [Full Text: https://doi.org/10.1002/ajmg.1320350420\]
  83. Gregory, C. A., Schwartz, J., Kirkilionis, A. J., Rudd, N., Hamerton, J. L.Somatic recombination rather than uniparental disomy suggested as another mechanism by which genetic imprinting may play a role in the etiology of Prader-Willi syndrome. Hum. Genet. 88: 42-48, 1991. [PubMed: 1683645] [Full Text: https://doi.org/10.1007/BF00204927\]
  84. Guanti, G.A new case of rearrangement of chromosome 15 associated with Prader-Willi syndrome. Clin. Genet. 17: 423-427, 1980. [PubMed: 7398114] [Full Text: https://doi.org/10.1111/j.1399-0004.1980.tb00174.x\]
  85. Gunay-Aygun, M., Schwartz, S., Heeger, S., O'Riordan, M. A., Cassidy, S. B.The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria. Pediatrics 108: e92, 2001. Note: Electronic Article. [PubMed: 11694676] [Full Text: https://doi.org/10.1542/peds.108.5.e92\]
  86. Hall, B. D., Smith, D. W.Prader-Willi syndrome: a resume of 32 cases including an instance of affected first cousins, one of whom is of normal stature and intelligence. J. Pediat. 81: 286-293, 1972. [PubMed: 5042487] [Full Text: https://doi.org/10.1016/s0022-3476(72)80297-x\]
  87. Hall, B. D.Leukaemia and the Prader-Willi syndrome. (Letter) Lancet 325: 46 only, 1985. Note: Originally Volume I. [PubMed: 2856967] [Full Text: https://doi.org/10.1016/s0140-6736(85)90990-0\]
  88. Hall, J. G.Genomic imprinting and its clinical implications. (Editorial) New Eng. J. Med. 326: 827-829, 1992. [PubMed: 1538729] [Full Text: https://doi.org/10.1056/NEJM199203193261210\]
  89. Hamilton, C. R., Jr., Scully, R. E., Kliman, B.Hypogonadotropism in Prader-Willi syndrome: induction of puberty and spermatogenesis by clomiphene citrate. Am. J. Med. 52: 322-329, 1972. [PubMed: 5011391] [Full Text: https://doi.org/10.1016/0002-9343(72)90019-8\]
  90. Haqq, A. M., Farooqi, I. S., O'Rahilly, S., Stadler, D. D., Rosenfeld, R. G., Pratt, K. L., LaFranchi, S. H., Purnell, J. Q.Serum ghrelin levels are inversely correlated with body mass index, age, and insulin concentrations in normal children and are markedly increased in Prader-Willi syndrome. J. Clin. Endocr. Metab. 88: 174-178, 2003. [PubMed: 12519848] [Full Text: https://doi.org/10.1210/jc.2002-021052\]
  91. Haqq, A. M., Stadler, D. D., Rosenfeld, R. G., Pratt, K. L., Weigle, D. S., Frayo, R. S., Lafranchi, S. H., Cummings, D. E., Purnell, J. Q.Circulating ghrelin levels are suppressed by meals and octreotide therapy in children with Prader-Willi syndrome. J. Clin. Endocr. Metab. 88: 3573-3576, 2003. [PubMed: 12915638] [Full Text: https://doi.org/10.1210/jc.2003-030205\]
  92. Hasegawa, T., Hara, M., Ando, M., Osawa, M., Fukuyama, Y., Takahashi, M., Yamada, K.Cytogenetic studies of familial Prader-Willi syndrome. Hum. Genet. 65: 325-330, 1984. [PubMed: 6693121] [Full Text: https://doi.org/10.1007/BF00291556\]
  93. Hawkey, C. J., Smithies, A.The Prader-Willi syndrome with a 15-15 translocation: case report and review of the literature. J. Med. Genet. 13: 152-157, 1976. [PubMed: 933113] [Full Text: https://doi.org/10.1136/jmg.13.2.152\]
  94. Hirsch, J.Personal Communication. New York, N.Y. 4/6/1984.
  95. Hittner, H. M., King, R. A., Riccardi, V. M., Ledbetter, D. H., Borda, R. P., Ferrell, R. E., Kretzer, F. L.Oculocutaneous albinoidism as a manifestation of reduced neural crest derivatives in the Prader-Willi syndrome. Am. J. Ophthal. 94: 328-337, 1982. [PubMed: 6812426] [Full Text: https://doi.org/10.1016/0002-9394(82)90358-0\]
  96. Hoefnagel, D., Costello, P. J., Hatoum, K.Prader-Willi syndrome. J. Ment. Defic. Res. 11: 1-11, 1967. [PubMed: 6068089]
  97. Holder, J. L., Jr., Butte, N. F., Zinn, A. R.Profound obesity associated with a balanced translocation that disrupts the SIM1 gene. Hum. Molec. Genet. 9: 101-108, 2000. [PubMed: 10587584] [Full Text: https://doi.org/10.1093/hmg/9.1.101\]
  98. Holm, V. A., Cassidy, S. B., Butler, M. G., Hanchett, J. M., Greenswag, L. R., Whitman, B. Y., Greenberg, F.Prader-Willi syndrome: consensus diagnostic criteria. Pediatrics 91: 398-402, 1993. [PubMed: 8424017]
  99. Holm, V. A., Sulzbacher, S. J., Pipes, P. L.Prader-Willi Syndrome. Baltimore: University Park Press (pub.) 1981.
  100. Hordijk, R., Wierenga, H., Scheffer, H., Leegte, B., Hofstra, R. M. W., Stolte-Dijkstra, I.Maternal uniparental disomy for chromosome 14 in a boy with a normal karyotype. J. Med. Genet. 36: 782-785, 1999. [PubMed: 10528860] [Full Text: https://doi.org/10.1136/jmg.36.10.782\]
  101. Horsthemke, B., Nazlican, H., Husing, J., Klein-Hitpass, L., Claussen, U., Michel, S., Lich, C., Gillessen-Kaesbach, G., Buiting, K.Somatic mosaicism for maternal uniparental disomy 15 in a girl with Prader-Willi syndrome: confirmation by cell cloning and identification of candidate downstream genes. Hum. Molec. Genet. 12: 2723-2732, 2003. [PubMed: 12944418] [Full Text: https://doi.org/10.1093/hmg/ddg291\]
  102. Horsthemke, B., Wagstaff, J.Mechanisms of imprinting of the Prader-Willi/Angelman region. Am. J. Med. Genet. 146A: 2041-2052, 2008. [PubMed: 18627066] [Full Text: https://doi.org/10.1002/ajmg.a.32364\]
  103. Hoybye, C., Hilding, A., Jacobsson, H., Thoren, M.Metabolic profile and body composition in adults with Prader-Willi syndrome and severe obesity. J. Clin. Endocr. Metab. 87: 3590-3597, 2002. [PubMed: 12161480] [Full Text: https://doi.org/10.1210/jcem.87.8.8735\]
  104. Hudgins, L., Cassidy, S. B.Hand and foot length in Prader-Willi syndrome. Am. J. Med. Genet. 41: 5-9, 1991. [PubMed: 1951464] [Full Text: https://doi.org/10.1002/ajmg.1320410103\]
  105. Hudgins, L., Geer, J. S., Cassidy, S. B.Phenotypic differences in African Americans with Prader-Willi syndrome. Genet. Med. 1: 49-51, 1998. [PubMed: 11261430] [Full Text: https://doi.org/10.1097/00125817-199811000-00010\]
  106. Hulten, M., Armstrong, S., Challinor, P., Gould, C., Hardy, G., Leedham, P., Lee, T., McKeown, C.Genomic imprinting in an Angelman and Prader-Willi translocation family. (Letter) Lancet 338: 638-639, 1991. [PubMed: 1679180] [Full Text: https://doi.org/10.1016/0140-6736(91)90652-6\]
  107. Ishikawa, T., Kanayama, M., Wada, Y.Prader-Willi syndrome in two siblings: one with normal karyotype, one with a terminal deletion of distal Xq. Clin. Genet. 32: 295-299, 1987. [PubMed: 3319293] [Full Text: https://doi.org/10.1111/j.1399-0004.1987.tb03293.x\]
  108. Ishikawa, T., Kibe, T., Wada, Y.Deletion of small nuclear ribonucleoprotein polypeptide N (SNRPN) in Prader-Willi syndrome detected by fluorescence in situ hybridization: two sibs with the typical phenotype without a cytogenetic deletion in chromosome 15q. Am. J. Med. Genet. 62: 350-352, 1996. [PubMed: 8723064] [Full Text: https://doi.org/10.1002/(SICI)1096-8628(19960424)62:4<350::AID-AJMG6>3.0.CO;2-V]
  109. Jancar, J.Prader-Willi syndrome (hypotonia, obesity, hypogonadism, growth and mental retardation). J. Ment. Defic. Res. 15: 20-29, 1971. [PubMed: 5581387]
  110. Ji, Y., Walkowicz, M. J., Buiting, K., Johnson, D. K., Tarvin, R. E., Rinchik, E. M., Horsthemke, B., Stubbs, L., Nicholls, R. O.The ancestral gene for transcribed, low-copy repeats in the Prader-Willi/Angelman region encodes a large protein implicated in protein trafficking, which is deficient in mice with neuromuscular and spermiogenic abnormalities. Hum. Molec. Genet. 8: 533-542, 1999. [PubMed: 9949213] [Full Text: https://doi.org/10.1093/hmg/8.3.533\]
  111. Johnsen, S., Crawford, J. D., Haessler, H. A.Fasting hyperlipogenesis: an inborn error of energy metabolism in Prader-Willi syndrome. (Abstract) Proceedings of the American Pediatric Society: Atlantic City, NJ 1967.
  112. Kaminsky, E. B., Kaul, V., Paschall, J., Church, D. M., Bunke, B., Kunig, D., Moreno-De-Luca, D., Moreno-De-Luca, A., Mulle, J. G., Warren, S. T., Richard, G., Compton, J. G., and 22 others.An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. Genet. Med. 13: 777-784, 2011. [PubMed: 21844811] [Full Text: https://doi.org/10.1097/GIM.0b013e31822c79f9\]
  113. Kantor, B., Kaufman, Y., Makedonski, K., Razin, A., Shemer, R.Establishing the epigenetic status of the Prader-Willi/Angelman imprinting center in the gametes and embryo. Hum. Molec. Genet. 13: 2767-2779, 2004. [PubMed: 15367489] [Full Text: https://doi.org/10.1093/hmg/ddh290\]
  114. Katcher, M. L., Bargman, G. J., Gilbert, E. F., Opitz, J. M.Absence of spermatogonia in the Prader-Willi syndrome. Europ. J. Pediat. 124: 257-260, 1977. [PubMed: 844459] [Full Text: https://doi.org/10.1007/BF00441933\]
  115. Kennerknecht, I.Differentiated recurrence risk estimations in the Prader-Willi syndrome. Clin. Genet. 41: 303-308, 1992. [PubMed: 1623627] [Full Text: https://doi.org/10.1111/j.1399-0004.1992.tb03403.x\]
  116. Keverne, E. B., Fundele, R., Narasimha, M., Barton, S. C., Surani, M. A.Genomic imprinting and the differential roles of parental genomes in brain development. Brain Res. Dev. Brain Res. 92: 91-100, 1996. [PubMed: 8861727] [Full Text: https://doi.org/10.1016/0165-3806(95)00209-x\]
  117. Kim, S.-J., Miller, J. L., Kuipers, P. J., German, J. R., Beaudet, A. L., Sahoo, T., Driscoll, D. J.Unique and atypical deletions in Prader-Willi syndrome reveal distinct phenotypes. Europ. J. Hum. Genet. 20: 283-290, 2012. [PubMed: 22045295] [Full Text: https://doi.org/10.1038/ejhg.2011.187\]
  118. Kirkilionis, A. J., Gregory, C. A., Hamerton, J. L.Long-range restriction mapping and linkage analysis of the Prader-Willi chromosome region (PWCR). Genomics 9: 524-535, 1991. [PubMed: 2032723] [Full Text: https://doi.org/10.1016/0888-7543(91)90420-j\]
  119. Kishore, S., Khanna, A., Zhang, Z., Hui, J., Balwierz, P. J., Stefan, M., Beach, C., Nicholls, R. D., Zavolan, M., Stamm, S.The snoRNA MBII-52 (SNORD 115) is processed into smaller RNAs and regulates alternative splicing. Hum. Molec. Genet. 19: 1153-1164, 2010. [PubMed: 20053671] [Full Text: https://doi.org/10.1093/hmg/ddp585\]
  120. Kishore, S., Stamm, S.The snoRNA HBII-52 regulates alternative splicing of the serotonin receptor 2C. Science 311: 230-232, 2006. [PubMed: 16357227] [Full Text: https://doi.org/10.1126/science.1118265\]
  121. Knoll, J. H. M., Sinnett, D., Wagstaff, J., Glatt, K., Schantz-Wilcox, A., Whiting, P. M., Wingrove, P., Sikela, J. M., Lalande, M.FISH ordering of reference markers and of the gene for the a5 subunit of the g-aminobutyric acid receptor (GABRA5) with the Angelman and Prader-Willi syndrome chromosomal regions. Hum. Molec. Genet. 2: 183-189, 1993. [PubMed: 8388764] [Full Text: https://doi.org/10.1093/hmg/2.2.183\]
  122. Kousseff, B. G.The cytogenetic controversy in the Prader-Labhart-Willi syndrome. Am. J. Med. Genet. 13: 431-439, 1982. [PubMed: 7158643] [Full Text: https://doi.org/10.1002/ajmg.1320130412\]
  123. Kubota, T., Sutcliffe, J. S., Aradhya, S., Gillessen-Kaesbach, G., Christian, S. L., Horsthemke, B., Beaudet, A. L., Ledbetter, D. H.Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndrome. Am. J. Med. Genet. 66: 77-80, 1996. [PubMed: 8957518] [Full Text: https://doi.org/10.1002/(SICI)1096-8628(19961202)66:1<77::AID-AJMG18>3.0.CO;2-N]
  124. Kucerova, M., Strakova, M., Polivkova, Z.The Prader-Willi syndrome with a 15-3 translocation. J. Med. Genet. 16: 234-235, 1979. [PubMed: 469905]
  125. Kuwano, A., Mutirangura, A., Dittrich, B., Buiting, K., Horsthemke, B., Saitoh, S., Niikawa, N., Ledbetter, S. A., Greenberg, F., Chinault, A. C., Ledbetter, D. H.Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis. Hum. Molec. Genet. 1: 417-425, 1992. Note: Erratum: Hum. Molec. Genet. 1: 784 only, 1992. [PubMed: 1363801] [Full Text: https://doi.org/10.1093/hmg/1.6.417\]
  126. Labidi, F., Cassidy, S. B.A blind prometaphase study of Prader-Willi syndrome: frequency and consistency in interpretation of del 15q. Am. J. Hum. Genet. 39: 452-460, 1986. [PubMed: 3464201]
  127. Lakich, D., Kazazian, H. H., Jr., Antonarakis, S. E., Gitschier, J.Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A. Nature Genet. 5: 236-241, 1993. [PubMed: 8275087] [Full Text: https://doi.org/10.1038/ng1193-236\]
  128. Latt, S. A., Tantravahi, U., Nicholls, R., Ringer, S., Stroh, H., Fuller, R., Neve, R., Kaplan, L., Wharton, R.Mapping, characterization, and diagnostic utilization of 10 DNA segments from the proximal long arm of human chromosome 15. (Abstract) Cytogenet. Cell Genet. 46: 644 only, 1987.
  129. Laurance, B. M., Brito, A., Wilkinson, J.Prader-Willi syndrome after age 15 years. Arch. Dis. Child. 56: 181-186, 1981. [PubMed: 7212756] [Full Text: https://doi.org/10.1136/adc.56.3.181\]
  130. Laurance, B. M.Hypotonia, mental retardation, obesity, and cryptorchidism associated with dwarfism and diabetes in children. Arch. Dis. Child. 42: 126-139, 1967. [PubMed: 4381583] [Full Text: https://doi.org/10.1136/adc.42.222.126\]
  131. Ledbetter, D. H., Greenberg, F., Holm, V. A., Cassidy, S. B.Conference report: second annual Prader-Willi scientific conference. Am. J. Med. Genet. 28: 779-790, 1987. [PubMed: 3688016] [Full Text: https://doi.org/10.1002/ajmg.1320280402\]
  132. Ledbetter, D. H., Mascarello, J. T., Riccardi, V. M., Harper, V. D., Airhart, S. D., Strobel, R. J.Chromosome 15 abnormalities and the Prader-Willi syndrome: a follow-up report of 40 cases. Am. J. Hum. Genet. 34: 278-285, 1982. [PubMed: 7072717]
  133. Ledbetter, D. H., Riccardi, V. M., Airhart, S. D., Strobel, R. J., Keenan, B. S., Crawford, J. D.Deletions of chromosome 15 as a cause of the Prader-Willi syndrome. New Eng. J. Med. 304: 325-329, 1981. [PubMed: 7442771] [Full Text: https://doi.org/10.1056/NEJM198102053040604\]
  134. Ledbetter, D. H., Riccardi, V. M., Youngbloom, S. A., Strobel, R. J., Keenan, B. S., Crawford, J. D., Louro, J. M.Deletion (15q) as a cause of the Prader-Willi syndrome (PWS). (Abstract) Am. J. Hum. Genet. 32: 77A only, 1980.
  135. Lee, S., Kozlov, S., Hernandez, L., Chamberlain, S.J., Brannan, C. I., Stewart, C. L., Wevrick, R.Expression and imprinting of MAGEL2 suggest a role in Prader-Willi syndrome and the homologous murine imprinting phenotype. Hum. Molec. Genet. 9: 1813-1819, 2000. [PubMed: 10915770] [Full Text: https://doi.org/10.1093/hmg/9.12.1813\]
  136. Lee, S., Walker, C. L., Karten, B., Kuny, S. L., Tennese, A. A., O'Neill, M. A., Wevrick, R.Essential role for the Prader-Willi syndrome protein necdin in axonal outgrowth. Hum. Molec. Genet. 14: 627-637, 2005. [PubMed: 15649943] [Full Text: https://doi.org/10.1093/hmg/ddi059\]
  137. Lee, S., Wevrick, R.Identification of novel imprinted transcripts in the Prader-Willi syndrome and Angelman syndrome deletion region: further evidence for regional imprinting control. Am. J. Hum. Genet. 66: 848-858, 2000. [PubMed: 10712201] [Full Text: https://doi.org/10.1086/302817\]
  138. Lehrman, M. A., Goldstein, J. L., Russell, D. W., Brown, M. S.Duplication of seven exons in LDL receptor gene caused by Alu-Alu recombination in a subject with familial hypercholesterolemia. Cell 48: 827-835, 1987. [PubMed: 3815525] [Full Text: https://doi.org/10.1016/0092-8674(87)90079-1\]
  139. Lindgren, A. C., Barkeling, B., Hagg, A., Ritzen, E. M., Marcus, C., Rossner, S.Eating behavior in Prader-Willi syndrome, normal weight, and obese control groups. J. Pediat. 137: 50-55, 2000. [PubMed: 10891821] [Full Text: https://doi.org/10.1067/mpd.2000.106563\]
  140. Lindgren, A. C., Hellstrom, L. G., Ritzen, E. M., Milerad, J.Growth hormone treatment increases CO(2) response, ventilation and central inspiratory drive in children with Prader-Willi syndrome. Europ. J. Pediat. 158: 936-940, 1999. [PubMed: 10541953] [Full Text: https://doi.org/10.1007/s004310051246\]
  141. Lubinsky, M., Zellweger, H., Greenswag, L., Larson, G., Hansmann, I., Ledbetter, D.Familial Prader-Willi syndrome with apparently normal chromosomes. Am. J. Med. Genet. 28: 37-43, 1987. [PubMed: 3674116] [Full Text: https://doi.org/10.1002/ajmg.1320280106\]
  142. MacMillan, D. R., Kim, C. B., Weisskopf, B.Syndrome of growth resistance, obesity, and intellectual impairment with precocious puberty. Arch. Dis. Child. 47: 119-121, 1972. [PubMed: 5018626] [Full Text: https://doi.org/10.1136/adc.47.251.119\]
  143. Magenis, R. E., Toth-Fejel, S., Allen, L. J., Black, M., Brown, M. G., Budden, S., Cohen, R., Friedman, J. M., Kalousek, D., Zonana, J., Lacy, D., LaFranchi, S., Lahr, M., Macfarlane, J., Williams, C. P. S.Comparison of the 15q deletions in Prader-Willi and Angelman syndromes: specific regions, extent of deletions, parental origin, and clinical consequences.. Am. J. Med. Genet. 35: 333-349, 1990. [PubMed: 2309780] [Full Text: https://doi.org/10.1002/ajmg.1320350307\]
  144. Manzardo, A. M., Loker, J., Heinemann, J., Loker, C., Butler, M. G.Survival trends from the Prader-Willi Syndrome Association (USA) 40-year mortality survey. Genet. Med. 20: 24-30, 2018. [PubMed: 28682308] [Full Text: https://doi.org/10.1038/gim.2017.92\]
  145. Marcus, S., Hellgren, D., Lambert, B., Fallstrom, S. P., Wahlstrom, J.Duplication in the hypoxanthine phosphoribosyl-transferase gene caused by Alu-Alu recombination in a patient with Lesch Nyhan syndrome. Hum. Genet. 90: 477-482, 1993. [PubMed: 8381385] [Full Text: https://doi.org/10.1007/BF00217444\]
  146. Marzullo, P., Marcassa, C., Campini, R., Eleuteri, E., Minocci, A., Sartorio, A., Vettor, R., Liuzzi, A., Grugni, G.Conditional cardiovascular response to growth hormone therapy in adult patients with Prader-Willi syndrome. J. Clin. Endocr. Metab. 92: 1364-1371, 2007. [PubMed: 17264185] [Full Text: https://doi.org/10.1210/jc.2006-0600\]
  147. Mascari, M. J., Gottlieb, W., Rogan, P. K., Butler, M. G., Waller, D. A., Armour, J. A. L., Jeffreys, A. J., Ladda, R. L., Nicholls, R. D.The frequency of uniparental disomy in Prader-Willi syndrome: implications for molecular diagnosis. New Eng. J. Med. 326: 1599-1607, 1992. [PubMed: 1584261] [Full Text: https://doi.org/10.1056/NEJM199206113262404\]
  148. Mattei, J. F., Mattei, M. G., Giraud, F.Prader-Willi syndrome and chromosome 15: a clinical discussion of 20 cases. Hum. Genet. 64: 356-362, 1983. [PubMed: 6618488] [Full Text: https://doi.org/10.1007/BF00292367\]
  149. Mattei, M. G., Souiah, N., Mattei, J. F.Chromosome 15 anomalies and the Prader-Willi syndrome: cytogenetic analysis. Hum. Genet. 66: 313-334, 1984. [PubMed: 6373566] [Full Text: https://doi.org/10.1007/BF00287636\]
  150. McEntagart, M. E., Webb, T., Hardy, C., King, M. D.Familial Prader-Willi syndrome: case report and a literature review. Clin. Genet. 58: 216-223, 2000. [PubMed: 11076044] [Full Text: https://doi.org/10.1034/j.1399-0004.2000.580309.x\]
  151. Meguro, M., Mitsuya, K., Nomura, N., Kohda, M., Kashiwagi, A., Nishigaki, R., Yoshioka, H., Nakao, M., Oishi, M., Oshimura, M.Large-scale evaluation of imprinting status in the Prader-Willi syndrome region: an imprinted direct repeat cluster resembling small nucleolar RNA genes. Hum. Molec. Genet. 10: 383-394, 2001. [PubMed: 11157801] [Full Text: https://doi.org/10.1093/hmg/10.4.383\]
  152. Michaelsen, K. F., Lundsteen, C., Hansen, F. J.Prader-Willi syndrome and chromosomal mosaicism 46,XY/47,XY,+mar in two cases. Clin. Genet. 16: 147-150, 1979. [PubMed: 573673] [Full Text: https://doi.org/10.1111/j.1399-0004.1979.tb00983.x\]
  153. Miller, J. L., Couch, J. A., Schmalfuss, I., He, G., Liu, Y., Driscoll, D. J.Intracranial abnormalities detected by three-dimensional magnetic resonance imaging in Prader-Willi syndrome. Am. J. Med. Genet. 143A: 476-483, 2007. [PubMed: 17103438] [Full Text: https://doi.org/10.1002/ajmg.a.31508\]
  154. Miller, S. P., Riley, P., Shevell, M. I.The neonatal presentation of Prader-Willi syndrome revisited. J. Pediat. 134: 226-228, 1999. [PubMed: 9931534] [Full Text: https://doi.org/10.1016/s0022-3476(99)70420-8\]
  155. Ming, J. E., Blagowidow, N., Knoll, J. H. M., Rollings, L., Fortina, P., McDonald-McGinn, D. M., Spinner, N. B., Zackai, E. H.Submicroscopic deletion in cousins with Prader-Willi syndrome causes a grandmatrilineal inheritance pattern: effects of imprinting. Am. J. Med. Genet. 92: 19-24, 2000. [PubMed: 10797418] [Full Text: https://doi.org/10.1002/(sici)1096-8628(20000501)92:1<19::aid-ajmg4>3.0.co;2-#]
  156. Mitchell, M., Schinzel, A., Langlois, S., Gillessen-Kaesbach, G., Schuffenhauer, S., Michaelis, R., Abeliovich, D., Lerer, I., Christian, S., Guitart, M., McFadden, D. E., Robinson, W. P.Comparison of phenotype in uniparental disomy and deletion Prader-Willi syndrome. Am. J. Med. Genet 65: 133-136, 1996. [PubMed: 8911605] [Full Text: https://doi.org/10.1002/(SICI)1096-8628(19961016)65:2<133::AID-AJMG10>3.0.CO;2-R]
  157. Mogul, H. R., Lee, P. D. K., Whitman, B. Y., Zipf, W. B., Frey, M., Myers, S., Cahan, M., Pinyerd, B., Southren, A. L.Growth hormone treatment of adults with Prader-Willi syndrome and growth hormone deficiency improves lean body mass, fractional body fat, and serum triiodothyronine without glucose impairment: results from the United States multicenter trial. J. Clin. Endocr. Metab. 93: 1238-1245, 2008. [PubMed: 18211968] [Full Text: https://doi.org/10.1210/jc.2007-2212\]
  158. Muscatelli, F., Abrous, D. N., Massacrier, A., Boccaccio, I., Le Moal, M., Cau, P., Cremer, H.Disruption of the mouse Necdin gene results in hypothalamic and behavioral alterations reminiscent of the human Prader-Willi syndrome. Hum. Molec. Genet. 9: 3101-3110, 2000. [PubMed: 11115855] [Full Text: https://doi.org/10.1093/hmg/9.20.3101\]
  159. Mutirangura, A., Greenberg, F., Butler, M. G., Malcolm, S., Nicholls, R. D., Chakravarti, A., Ledbetter, D. H.Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): molecular diagnosis and mechanism of uniparental disomy. Hum. Molec. Genet. 2: 143-151, 1993. [PubMed: 8499903] [Full Text: https://doi.org/10.1093/hmg/2.2.143\]
  160. Nagai, T., Matsuo, N., Kayanuma, Y., Tonoki, H., Fukushima, Y., Ohashi, H., Murai, T., Hasegawa, T., Kuroki, Y., Niikawa, N.Standard growth curves for Japanese patients with Prader-Willi syndrome. Am. J. Med. Genet. 95: 130-134, 2000. [PubMed: 11078562] [Full Text: https://doi.org/10.1002/1096-8628(20001113)95:2<130::aid-ajmg7>3.0.co;2-r]
  161. Nakatsu, Y., Gondo, Y., Brilliant, M. H.The p locus is closely linked to the mouse homolog of a gene from the Prader-Willi chromosomal region. Mammalian Genome 2: 69-71, 1992. [PubMed: 1347469] [Full Text: https://doi.org/10.1007/BF00570442\]
  162. Nicholls, R. D., Knoll, J. H. M., Butler, M. G., Karam, S., Lalande, M.Genetic imprinting suggested by maternal heterodisomy in non-deletion Prader-Willi syndrome. Nature 342: 281-285, 1989. [PubMed: 2812027] [Full Text: https://doi.org/10.1038/342281a0\]
  163. Nicholls, R. D., Knoll, J. H. M., Butler, M. G., Korum, S., Shook, D., Glatt, K., Lalande, M.Uniparental disomy for chromosome 15 in the Prader-Willi syndrome. (Abstract) Am. J. Hum. Genet. 45 (suppl.): A209 only, 1989.
  164. 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., Horsthemke, B., Butler, M. G., Nicholls, R. D.Imprinting-mutation mechanisms in Prader-Willi syndrome. Am. J. Hum. Genet. 64: 397-413, 1999. [PubMed: 9973278] [Full Text: https://doi.org/10.1086/302233\]
  165. Oiglane-Shlik, E., Zordania, R., Varendi, H., Antson, A., Magi, M.-L., Tasa, G., Bartsch, O., Talvik, T., Ounap, K.The neonatal phenotype of Prader-Willi syndrome. Am. J. Med. Genet. 140A: 1241-1244, 2006. [PubMed: 16642508] [Full Text: https://doi.org/10.1002/ajmg.a.31223\]
  166. Olander, E., Stamberg, J., Steinberg, L., Wulfsberg, E. A.Third Prader-Willi syndrome phenotype due to maternal uniparental disomy 15 with mosaic trisomy 15. Am. J. Med. Genet. 93: 215-218, 2000. [PubMed: 10925385] [Full Text: https://doi.org/10.1002/1096-8628(20000731)93:3<215::aid-ajmg11>3.0.co;2-k]
  167. Orenstein, D. M., Boat, T. F., Owens, R. P., Horowitz, J. G., Primiano, F. P., Germann, K., Doershuk, C. F.The obesity hypoventilation syndrome in children with the Prader-Willi syndrome: a possible role for familial decreased response to carbon dioxide. J. Pediat. 97: 765-767, 1980. [PubMed: 6776254] [Full Text: https://doi.org/10.1016/s0022-3476(80)80260-5\]
  168. Orstavik, K. H., Tangsrud, S. E., Kiil, R., Hansteen, I.-L., Steen-Johnsen, J., Cassidy, S. B., Martony, A., Anvret, M., Tommerup, N., Brondum-Nielsen, K.Prader-Willi syndrome in a brother and sister without cytogenetic or detectable molecular genetic abnormality at chromosome 15q11q13. Am. J. Med. Genet. 44: 534-538, 1992. [PubMed: 1442901] [Full Text: https://doi.org/10.1002/ajmg.1320440431\]
  169. Ozcelik, T., Leff, S., Robinson, W., Donlon, T., Lalande, M., Sanjines, E., Schinzel, A., Francke, U.Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region. Nature Genet. 2: 265-269, 1992. [PubMed: 1303277] [Full Text: https://doi.org/10.1038/ng1292-265\]
  170. Park, J. P., Moeschler, J. B., Hani, V. H., Hawk, A. B., Belloni, D. R., Noll, W. W., Mohandas, T. K.Maternal disomy and Prader-Willi syndrome consistent with gamete complementation in a case of familial translocation (3;15)(p25;q11.2). Am. J. Med. Genet. 78: 134-139, 1998. [PubMed: 9674903]
  171. Phelan, M. C., Albiez, K. L., Flannery, D. B., Stevenson, R. E.The Prader-Willi syndrome and albinism in a black infant. Proc. Greenwood Genet. Center 7: 27-29, 1988.
  172. Prader, A., Labhart, A., Willi, H.Ein Syndrom von Adipositas, Kleinwuchs, Kryptorchismus und Oligophrenie nach Myatonieartigem Zustand im Neugeborenenalter. Schweiz. Med. Wschr. 86: 1260-1261, 1956.
  173. Prader, A.Personal Communication. Zurich, Switzerland 1991.
  174. Purvis-Smith, S. G., Saville, T., Manass, S., Yip, M.-Y., Lam-Po-Tang, P. R. L., Duffy, B., Johnston, H., Leigh, D., McDonald, B.Uniparental disomy 15 resulting from 'correction' of an initial trisomy 15. (Letter) Am. J. Hum. Genet. 50: 1348-1350, 1992. [PubMed: 1598916]
  175. Qumsiyeh, M. B., Dalton, J. D., Gordon, P. L., Wilroy, R. S., Tharapel, A. T.Deletion of chromosome 15pter-q11.2 due to t(Y;15) in a boy with Prader-Willi syndrome. Am. J. Med. Genet. 42: 109-111, 1992. [PubMed: 1308348] [Full Text: https://doi.org/10.1002/ajmg.1320420122\]
  176. Reed, M. L., Leff, S. E.Maternal imprinting of human SNRPN, a gene deleted in Prader-Willi syndrome. Nature Genet. 6: 163-167, 1994. [PubMed: 7512861] [Full Text: https://doi.org/10.1038/ng0294-163\]
  177. Reed, T., Butler, M. G.Dermatoglyphic features in Prader-Willi syndrome with respect to chromosomal findings. Clin. Genet. 25: 341-346, 1984. [PubMed: 6713710] [Full Text: https://doi.org/10.1111/j.1399-0004.1984.tb02001.x\]
  178. Ridler, M. A. C., Garrod, O., Berg, J. M.A case of Prader-Willi in a girl with a small extra chromosome. Acta Paediat. Scand. 60: 222-226, 1971. [PubMed: 5548129] [Full Text: https://doi.org/10.1111/j.1651-2227.1971.tb06646.x\]
  179. Rinchik, E. M., Bultman, S. J., Horsthemke, B., Lee, S. T., Strunk, K. M., Spritz, R. A., Avidano, K. M., Jong, M. T. C., Nicholls, R. M.A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism. Nature 361: 72-76, 1993. [PubMed: 8421497] [Full Text: https://doi.org/10.1038/361072a0\]
  180. Rivera, H., Zuffardi, O., Gargantini, L.Nonreciprocal and jumping translocations of 15q1-qter in Prader-Willi syndrome. Am. J. Med. Genet. 37: 311-317, 1990. [PubMed: 2260556] [Full Text: https://doi.org/10.1002/ajmg.1320370304\]
  181. Robinson, W. P., Bernasconi, F., Mutirangura, A., Ledbetter, D. H., Langlois, S., Malcolm, S., Morris, M. A., Schinzel, A. A.Nondisjunction of chromosome 15: origin and recombination. Am. J. Hum. Genet. 53: 740-751, 1993. [PubMed: 8352279]
  182. Robinson, W. P., Binkert, F., Gine, R., Vazquez, C., Mueller, W., Rosenkranz, W., Schinzel, A.Clinical and molecular analysis of five inv dup(15) patients. Europ. J. Hum. Genet. 1: 37-50, 1993. [PubMed: 8069650] [Full Text: https://doi.org/10.1159/000472386\]
  183. Robinson, W. P., Bottani, A., Yagang, X., Balakrishman, J., Binkert, F., Machler, M., Prader, A., Schinzel, A.Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients. Am. J. Hum. Genet. 49: 1219-1234, 1991. [PubMed: 1684085]
  184. Robinson, W. P., Lorda-Sanchez, I., Malcolm, S., Langlois, S., Schuffenhauer, S., Knoblauch, H., Horsthemke, B., Schinzel, A. A.Increased parental ages and uniparental disomy 15: a paternal age effect? Europ. J. Hum. Genet. 1: 280-286, 1993. [PubMed: 8081941] [Full Text: https://doi.org/10.1159/000472425\]
  185. Robinson, W. P., Wagstaff, J., Bernasconi, F., Baccichetti, C., Artifoni, L., Franzoni, E., Suslak, L., Shih, L. Y., Aviv, H., Schinzel, A. A.Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome. J. Med. Genet. 30: 756-760, 1993. [PubMed: 8411071] [Full Text: https://doi.org/10.1136/jmg.30.9.756\]
  186. Runte, M., Varon, R., Horn, D., Horsthemke, B., Buiting, K.Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader-Willi syndrome. Hum. Genet. 116: 228-230, 2005. [PubMed: 15565282] [Full Text: https://doi.org/10.1007/s00439-004-1219-2\]
  187. Sahoo, T., del Gaudio, D., German, J. R., Shinawi, M., Peters, S. U., Person, R. E., Garnica, A., Cheung, S. W., Beaudet, A. L.Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster. Nature Genet. 40: 719-721, 2008. [PubMed: 18500341] [Full Text: https://doi.org/10.1038/ng.158\]
  188. Schinzel, A., Robinson, W. P., Bottani, A., Yagang, X., Prader, A.Prader-Willi or Angelman syndrome in familial 15q11-q13 deletion of maternal origin? Hum. Genet. 88: 361-362, 1992. [PubMed: 1733842] [Full Text: https://doi.org/10.1007/BF00197279\]
  189. Schinzel, A.Approaches to the prenatal diagnosis of the Prader-Willi syndrome. (Letter) Hum. Genet. 74: 327 only, 1986. [PubMed: 3781563] [Full Text: https://doi.org/10.1007/BF00282561\]
  190. Schulze, A., Hansen, C., Skakkebaek, N. E., Brondum-Nielsen, K., Ledbetter, D. H., Tommerup, N.Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint. Nature Genet. 12: 452-454, 1996. [PubMed: 8630505] [Full Text: https://doi.org/10.1038/ng0496-452\]
  191. Seyler, L. E., Jr., Arulanantham, K., O'Connor, C. F.Hypergonadotropic-hypogonadism in the Prader-Labhart-Willi syndrome. J. Pediat. 94: 435-437, 1979. [PubMed: 423031] [Full Text: https://doi.org/10.1016/s0022-3476(79)80596-x\]
  192. Sinnema, M., Schrander-Stumpel, C. T. R. M., Maaskant, M. A., Boer, H., Curfs, L. M. G.Aging in Prader-Willi syndrome: twelve persons over the age of 50 years. Am. J. Med. Genet. 158A: 1326-1336, 2012. [PubMed: 22585395] [Full Text: https://doi.org/10.1002/ajmg.a.35333\]
  193. Smeets, D. F. C. M., Hamel, B. C. J., Nelen, M. R., Smeets, H. J. M., Bollen, J. H. M., Smits, A. P. T., Ropers, H.-H., van Oost, B. A.Prader-Willi syndrome and Angelman syndrome in cousins from a family with a translocation between chromosomes 6 and 15. New Eng. J. Med. 326: 807-811, 1992. [PubMed: 1538725] [Full Text: https://doi.org/10.1056/NEJM199203193261206\]
  194. Smith, A., Jauch, A., Slater, H., Robson, L., Sandanam, T.Syndromal obesity due to paternal duplication 6(q24.3-q27). Am. J. Med. Genet. 84: 125-131, 1999. [PubMed: 10323737] [Full Text: https://doi.org/10.1002/(sici)1096-8628(19990521)84:2<125::aid-ajmg8>3.0.co;2-w]
  195. Smith, A., Lindeman, R., Volpato, F., Kearney, A., White, S., Haan, E., Trent, R. J.A de novo unbalanced reciprocal translocation identified as paternal in origin in the Prader-Willi syndrome. Hum. Genet. 86: 534-536, 1991. [PubMed: 2016095] [Full Text: https://doi.org/10.1007/BF00194651\]
  196. Smith, A., Murray, R., den Dulk, G.Familial deletion. Ann. Genet. (Paris) 26: 91-93, 1983. [PubMed: 6604492]
  197. Smith, A., Noel, M.A girl with the Prader-Willi syndrome and Robertsonian translocation 45,XX,t(14;15)(p11;q11) which was present in three normal family members. Hum. Genet. 55: 271-273, 1980. [PubMed: 7450770] [Full Text: https://doi.org/10.1007/BF00291777\]
  198. Stein, C. K., Stred, S. E., Thomson, L. L., Smith, F. C., Hoo, J. J.Interstitial 6q deletion and Prader-Willi-like phenotype. Clin. Genet. 49: 306-310, 1996. [PubMed: 8884080] [Full Text: https://doi.org/10.1111/j.1399-0004.1996.tb03794.x\]
  199. Stephenson, J. B. P.Prader-Willi syndrome: neonatal presentation and later development.. Dev. Med. Child Neurol. 22: 792-795, 1980. [PubMed: 7450305] [Full Text: https://doi.org/10.1111/j.1469-8749.1980.tb03747.x\]
  200. Strakowski, S. M., Butler, M. G.Paternal hydrocarbon exposure in Prader-Willi syndrome. (Letter) Lancet 330: 1458 only, 1987. Note: Originally Volume II. [PubMed: 2892013] [Full Text: https://doi.org/10.1016/s0140-6736(87)91152-4\]
  201. Sutcliffe, G. S.Personal Communication. Oxford, England 1994.
  202. Tommerup, N.Personal Communication. Zurich, Switzerland 1993.
  203. Trent, R. J., Volpato, F., Smith, A., Lindeman, R., Wong, M.-K., Warne, G., Haan, E.Molecular and cytogenetic studies of the Prader-Willi syndrome. J. Med. Genet. 28: 649-654, 1991. [PubMed: 1682493] [Full Text: https://doi.org/10.1136/jmg.28.10.649\]
  204. van Mil, E. G. A. H., Westerterp, K. R., Gerver, W.-J. M., Van Marken Lichtenbelt, W. D., Kester, A. D. M., Saris, W. H. M.Body composition in Prader-Willi syndrome compared with nonsyndromal obesity: relationship to physical activity and growth hormone function. J. Pediat. 139: 708-714, 2001. [PubMed: 11713451] [Full Text: https://doi.org/10.1067/mpd.2001.118399\]
  205. Veenema, H., Beverstock, G. C., Zvelebil-Tarasevitch, N., Doorn, J. L., van Parys, J. A. P., van de Kamp, J. J. P.Duplication in the proximal portion of the long arm of chromosome 15, in a girl without phenotypic features of the Prader-Willi syndrome. Clin. Genet. 26: 65-68, 1984. [PubMed: 6467659] [Full Text: https://doi.org/10.1111/j.1399-0004.1984.tb00791.x\]
  206. Villa, A., Urioste, M., Bofarull, J. M., Martinez-Frias, M. L.De novo interstitial deletion q16.2q21 on chromosome 6. Am. J. Med. Genet. 55: 379-383, 1995. [PubMed: 7726240] [Full Text: https://doi.org/10.1002/ajmg.1320550326\]
  207. Vogels, A., De Hert, M., Descheemaeker, M. J., Govers, V., Devriendt, K., Legius, E., Prinzie, P., Fryns, J. P.Psychotic disorders in Prader-Willi syndrome. Am. J. Med. Genet. 127A: 238-243, 2004. [PubMed: 15150773] [Full Text: https://doi.org/10.1002/ajmg.a.30004\]
  208. Warkany, J.Personal Communication. Cincinnati, Oh. 1970.
  209. Wevrick, R., Francke, U.Diagnostic test for the Prader-Willi syndrome by SNRPN expression in blood. Lancet 348: 1068-1069, 1996. [PubMed: 8874459] [Full Text: https://doi.org/10.1016/S0140-6736(96)04342-5\]
  210. Wevrick, R., Kerns, J. A., Francke, U.Identification of a novel paternally expressed gene in the Prader-Willi syndrome region. Hum. Molec. Genet. 3: 1877-1882, 1994. [PubMed: 7849716] [Full Text: https://doi.org/10.1093/hmg/3.10.1877\]
  211. Wey, E., Bartholdi, D., Riegel, M., Nazlican, H., Horsthemke, B., Schinzel, A., Baumer, A.Mosaic imprinting defect in a patient with an almost typical expression of the Prader-Willi syndrome. Europ. J. Hum. Genet. 13: 273-277, 2005. [PubMed: 15578038] [Full Text: https://doi.org/10.1038/sj.ejhg.5201337\]
  212. Wharton, R. H., Wang, T., Graeme-Cook, F., Briggs, S., Cole, R. E.Acute idiopathic gastric dilatation with gastric necrosis in individuals with Prader-Willi syndrome. Am. J. Med. Genet. 73: 437-441, 1997. [PubMed: 9415471] [Full Text: https://doi.org/10.1002/(sici)1096-8628(19971231)73:4<437::aid-ajmg12>3.0.co;2-s]
  213. White, L. M., Rogan, P. K., Nicholls, R. D., Wu, B.-L., Korf, B., Knoll, J. H. M.Allele-specific replication of 15q11-q13 loci: a diagnostic test for detection of uniparental disomy. Am. J. Hum. Genet. 59: 423-430, 1996. [PubMed: 8755930]
  214. Whittington, J. E., Holland, A. J., Webb, T., Butler, J., Clarke, D., Boer, H.Population prevalence and estimated birth incidence and mortality rate for people with Prader-Willi syndrome in one UK Health Region.(Letter) J. Med. Genet. 38: 792-798, 2001. [PubMed: 11732491] [Full Text: https://doi.org/10.1136/jmg.38.11.792\]
  215. Whittington, J., Holland, A., Webb, T., Butler, J., Clarke, D., Boer, H.Relationship between clinical and genetic diagnosis of Prader-Willi syndrome. (Letter) J. Med. Genet. 39: 926-932, 2002. [PubMed: 12471208] [Full Text: https://doi.org/10.1136/jmg.39.12.926\]
  216. Wiesner, G. L., Bendel, C. M., Olds, D. P., White, J. G., Arthur, D. C., Ball, D. W., King, R. A.Hypopigmentation in the Prader-Willi syndrome. Am. J. Hum. Genet. 40: 431-442, 1987. [PubMed: 3578281]
  217. Williams, M. S., Rooney, B. L., Williams, J., Josephson, K., Pauli, R.Investigation of thermoregulatory characteristics in patients with Prader-Willi syndrome. Am. J. Med. Genet. 49: 302-307, 1994. [PubMed: 8209890] [Full Text: https://doi.org/10.1002/ajmg.1320490312\]
  218. Wirth, J., Back, E., Huttenhofer, A., Nothwang, H.-G., Lich, C., Gross, S., Menzel, C,, Schinzel, A., Kioschis, P., Tommerup, N., Ropers, H.-H., Horsthemke, B., Buiting, K.A translocation breakpoint cluster disrupts the newly defined 3-prime end of the SNURF-SNRPN transcription unit on chromosome 15. Hum. Molec. Genet. 10: 201-210, 2001. [PubMed: 11159938] [Full Text: https://doi.org/10.1093/hmg/10.3.201\]
  219. Wise, M. S., Zoghbi, H., Edwards, M., Byrd, L. K., Guttmacher, A. E., Greenberg, F.Hyperthermia in infants with Prader-Willi syndrome. (Abstract) Am. J. Med. Genet. 41: 528 only, 1991.
  220. Wisniewski, L. P., Witt, M. E., Ginsberg-Fellner, F., Wilner, J., Desnick, R. J.Prader-Willi syndrome and a bisatellited derivative of chromosome 15. Clin. Genet. 18: 42-47, 1980. [PubMed: 7418253] [Full Text: https://doi.org/10.1111/j.1399-0004.1980.tb01363.x\]
  221. Woodage, T., Lindeman, R., Deng, Z. M., Fimmel, A., Smith, A., Trent, R. J.Physical mapping studies at D15S10: implications for candidate gene identification in the Angelman syndrome/Prader-Willi syndrome chromosome region of 15q11-q13.. Genomics 19: 170-172, 1994. [PubMed: 8188222] [Full Text: https://doi.org/10.1006/geno.1994.1031\]
  222. Xin, Z., Allis, C. D., Wagstaff, J.Parent-specific complementary patterns of histone H3 lysine 9 and H3 lysine 4 methylation at the Prader-Willi syndrome imprinting center. Am. J. Hum. Genet. 69: 1389-1394, 2001. [PubMed: 11592036] [Full Text: https://doi.org/10.1086/324469\]
  223. Yang, T., Adamson, T. E., Resnick, J. L., Leff, S., Wevrick, R., Francke, U., Jenkins, N. A., Copeland, N. G., Brannan, C. I.A mouse model for Prader-Willi syndrome imprinting-centre mutations. Nature Genet. 19: 25-31, 1998. [PubMed: 9590284] [Full Text: https://doi.org/10.1038/ng0598-25\]
  224. Zellweger, H., Schneider, H. J.Syndrome of hypotonia-hypomentia-hypogonadism-obesity (HHHO) or Prader-Willi syndrome. Am. J. Dis. Child. 115: 588-598, 1968. [PubMed: 5645106] [Full Text: https://doi.org/10.1001/archpedi.1968.02100010590009\]
  225. Zori, R., Williams, C., Mattei, J. F., Moncla, A.Parental origin of del(15)(q11-q13) in Angelman and Prader-Willi syndromes.. Am. J. Med. Genet. 37: 294-295, 1990. [PubMed: 2248305] [Full Text: https://doi.org/10.1002/ajmg.1320370233\]
  226. Zuffardi, O., Buhler, E. M., Fraccaro, M.Chromosome 15 and Prader-Willi syndrome. (Abstract) Clin. Genet. 14: 315-316, 1978.