Prader A, Labhart A, Willi H: Ein syndrome von adipositas, kleinwuchs, kryptorchismus und oligophrenie nach myotonierartigem zustand im neugeborenenalter. Schweiz Med Wochen. 1956, 86: 1260-1261.
Google Scholar
Vogels A, Van Den Ende J, Keymolen K, Mortier G, Devriendt K, Legius E, Fryns JP: Minimum prevalence, birth incidence and cause of death for Prader-Willi syndrome in Flanders. Eur J Hum Genet. 2004, 12 (3): 238-240. 10.1038/sj.ejhg.5201135.
CAS
PubMed
Google Scholar
Whittington JE, Holland AJ, 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. J Med Genet. 2001, 38 (11): 792-798. 10.1136/jmg.38.11.792.
PubMed Central
CAS
PubMed
Google Scholar
Nicholls RD, Knoll JH, Butler MG, Karam S, Lalande M: Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome. Nature. 1989, 342: 281-285. 10.1038/342281a0.
CAS
PubMed
Google Scholar
Butler MG: High resolution chromosome analysis and fluorescence in situ hybridization in patient referred for Prader-Willi or Angelman syndrome. Am J Med Genet. 1995, 56 (4): 420-422. 10.1002/ajmg.1320560414.
CAS
PubMed
Google Scholar
Butler MG, Bittel DC, Kibiryeva N, Talebizadeh Z, Thompson T: Behavioral differences among subjects with Prader_Willi syndrome and type I or type II deletion and maternal disomy. Pediatrics Mar. 2004, 113: 565-573.
Google Scholar
Glenn CC, Saitoh S, Jong MT, Filbrandt MM, Surti U, Driscoll DJ, Nicholl RD: Gene structure, DNA methylation and imprinted expression of the human SNRPN gene. Am J Hum Genet. 1996, 58 (2): 335-346.
PubMed Central
CAS
PubMed
Google Scholar
Chotai KA, Payne SJ: A rapid PCR based test for differential molecular diagnosis of Prader-Willi syndrome and Angelman syndromes. J Med Genet. 1998, 35 (6): 472-475. 10.1136/jmg.35.6.472.
PubMed Central
CAS
PubMed
Google Scholar
Glenn CC, Nicholls RD, Robinson WP, Saitoh S, Niikawa N, Schinzel A, Horsthemke B, Driscoll DJ: Modification of 15q11-q13 DNA methylation imprints in unique Angelman and Prader-Willi patients. Hum Mol Genet. 1993, 2 (9): 1377-1382. 10.1093/hmg/2.9.1377.
CAS
PubMed
Google Scholar
Reis A, Dittrich B, Greger V, Buiting K, Lalande M, Gillessen-Kaesbach G, Anvret M, Horsthemke B: Imprinting mutation suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes. Am J Hum Genet. 1994, 54 (5): 733-40.
Google Scholar
Buiting K, Saitoh S, Gross S, Dittrich B, Schwartz S, Nicholls RD, Horsthemke B: Inherited microdeletions in the Angelman and Prader-Will syndromes define an imprinting centre on human chromosome 15. Nat Genet. 1995, 9 (4): 395-400. 10.1038/ng0495-395.
CAS
PubMed
Google Scholar
Procter M, Chou LS, Tang W, Jama M, Mao R: Molecular diagnosis of Prader-Willi and Angelman syndroems by methylation specific melting analysis and methylation-specfic multiplex ligation-dependent probe amplification. Clin Chem. 2006, 52 (7): 1276-1283. 10.1373/clinchem.2006.067603.
CAS
PubMed
Google Scholar
Holm VA, Cassidy SB, Butler MG, Hanchett JM, Greenswag LR, Whitman BY, Greenberg F: Prader-Willi syndrome: consensus diagnostic criteria. Pediatrics. 1993, 91 (2): 398-402.
CAS
PubMed
Google Scholar
Gunay-Aygun M, Schwartz S, Heeger S, O'Riordan MA, Cassidy SB: The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria. Pediatrics. 2001, 108 (5): E92-10.1542/peds.108.5.e92.
CAS
PubMed
Google Scholar
Goldstone AP, Holland AK, Hauffa BO, Hokken-Koelega AC, Tauber M: Recommendations for the Diagnosis and Management of Prader-Willi syndrome. J Clin Endocrinol Metabol. 2008, 93: 4183-97. 10.1210/jc.2008-0649.
CAS
Google Scholar
Crino A, Schiaffini R, Ciampalini P, Spera S, Beccaria L, Benzi F, Bosio L, Corrias A, gargantini L, Salvatoni A, Tonini G, Trifiro G, Livieri C: Genetic Obesity Study Group of the Italian Society of Pediatric Endocrinology and Diabetology (SIEDP), Hypogonadism and pubertal development in Prader-Willi syndrome. Eur J Pediatr. 2003, 162 (5): 327-333.
CAS
PubMed
Google Scholar
Eiholzer U, l'Allemand D, Rousson V, Schlumpf M, Gasser T, Girard J, Gruters A, Simoni M: Hypothalamic and gonadal components of hypogonadism in boys with Prader-Labhart-Willi syndrome. J Clin Endocrinol Metab. 2006, 9 (3): 892-898.
Google Scholar
McCandless S: the Committee on Genetics, Health Supervision for Children With Prader-Willi Syndrome. Pediatrics. 2011, 127: 195-204.
PubMed
Google Scholar
Angulo MA, Castro-Magana M, Lamerson M, Arguello R, Accachia S, Khan A: Final adult height I children with Prader-Willi syndrome with and without human growth hormone treatment. Am J Med Genet A. 2007, 143A (13): 1456-61. 10.1002/ajmg.a.31824.
CAS
PubMed
Google Scholar
Eldar-Geva T, Hirsch HJ, Benarroch F, Rubinstein O, Gross-Tsur V: Hypogonadism in females with Prader-Willi syndrome from infancy to adulthood: variable combinations of a primary gonadal defect and hypothalamic dysfunction. Eur J Endocrinol. 2010, 162 (2): 377-84. 10.1530/EJE-09-0901.
CAS
PubMed
Google Scholar
Eiholzer U, l'Allemand D, Rousson V, Schlumpf M, Gasser T, Girard J, Grüters A, Simoni M: Hypothalamic and Gonadal Components of Hypogonadism in Boys with Prader-Labhart-Willi Syndrome. J Clin Endocrinol Metab. 2006, 91: 892-898.
CAS
PubMed
Google Scholar
Akefeldt A, Tornhage CJ, Gillberg C: A woman with Prader-Willi syndrome gives birth to a healthy baby girl. Dev Med Child Neurol. 1999, 41 (11): 789-790.
CAS
PubMed
Google Scholar
Schulze A, Mogensen H, Hamborg-Petersen B, Graem N, Ostergaard JR, Brondum-Nielsen K: Fertility in Prader-Willi syndrome: a case report with Angelman syndrome in the offspring. Acta Paediatr. 2001, 90 (4): 455-459.
CAS
PubMed
Google Scholar
Grossman AB: The Diagnosis and Management of Central Hypoadrenalism. J Clin Endocrinol Metab. 2010, 95 (11): 4855-4863. 10.1210/jc.2010-0982.
CAS
PubMed
Google Scholar
de Lind van Wijngaarden RF, Otten BJ, Festen DA, Joosten KF, de Jong Fh, Sweep FC, Hokken-Koelega AC: High prevalence of central adrenal insufficiency in patients with Prader-Willi syndrome. J Clin Endocrinol Metab. 2008, 93 (5): 1649-1654. 10.1210/jc.2007-2294.
CAS
PubMed
Google Scholar
Connell NA, Paterson WF, Wallace AM, Donaldson MD: Adrenal function and mortality in children and adolescents with Prader-Willi syndrome attending a single centre from 1991-2009. Clin Endocrinol (Oxf). 2010, 73 (5): 686-8. 10.1111/j.1365-2265.2010.03853.x.
Google Scholar
Nyunt O, Cotterill AM, Archbold SM, Wu JY, Leong GM, Verge CF, Crock PA, Amble GR, Hofman P, Harris M: Normal Cortisol Response on Low-dose synacthen (1 μg) test in children with Prader-Willi syndrome. J Clin Endocrinol Metab. 2010, 95 (12): E464-467E. 10.1210/jc.2010-0647.
CAS
PubMed
Google Scholar
Farholt S, Sode-Carlsen R, Christiansen JS, Ostergaard JR, Hoybye C: Normal cortisol response to high dose synacthen and insulin tolerance test in children and adults with Prader-Willi syndrome. J Clin Endocrinol Metabol. 2011, 96 (1): E173-180. 10.1210/jc.2010-0782.
CAS
Google Scholar
Holm VA, Nuget JK: 1982 Growth in the Prader-Willi syndrome. Birth Defects Orig Artic Ser. 1982, 18 (3B): 93-100.
CAS
PubMed
Google Scholar
Bray GA, Dahms WT, Swerdloff RS, Fiser RH, Atkinson RL, Carrel RE: The Prader-Willi syndrome: a study of 40 patients and a review of the literature. Medicine (Baltimore). 1983, 62 (2): 59-80.
CAS
Google Scholar
Butler MG, Meaney FJ: Standards for selected anthropometric measurements in Prader-Willi syndrome. Pediatrics. 1991, 88 (4): 853-860.
CAS
PubMed
Google Scholar
Lee PDK: Endocrine and metabolic aspects of Prader-Willi Syndrome. Edited by: Greenswag LR, Alexander RC. 1995, Management of Prader-Willi syndrome, second edition, Springer-Verlag, New York, 32-60.
Google Scholar
Carrel AL, Myers SE, Whitman BY, Allen DB: Benefits of long term GH therapy in Prader-Willi syndrome: A four year study. J Clin Endocrinol Metab. 2002, 87 (4): 1581-5. 10.1210/jc.87.4.1581.
CAS
PubMed
Google Scholar
Haqq AM, Stadler DD, Jackson RH, Rosenfeld RG, Purnell JQ, LaFranchi SH: Effects of Growth hormone on pulmonary function, sleep quality, behavior, cognition, growth velocity, body composition and resting energy expenditure in Prader-Willi syndrome. J Clin Endocrinol Metab. 2003, 88 (5): 2206-12. 10.1210/jc.2002-021536.
CAS
PubMed
Google Scholar
Festen DA, Wevers M, Lindgren AC, Bohm B, Otten BJ, Wit JM, Duivenvoorden HJ, Hokken-Koelega AC: Mental and motor development before and after growth hormone treatment in infants and toddlers with Prader-Willi syndrome. Clin Endocrinol (Oxf). 2008, 68 (6): 919-25. 10.1111/j.1365-2265.2007.03126.x.
CAS
Google Scholar
Festen DA, Wevers M, Lindgren AC, Bohm B, Otten BJ, Wit JM, Duivenvoorden HJ, Hokken-Koelega AC: Mental and motor development before and during growth hormone treatment in infants and toddlers with Prader-Willi syndrome. Clin Endocrinol (Oxf). 2008, 68: 991-925.
Google Scholar
Myers SE, Whitman BY, Carrel AL, Moerchen V, Bekx MT, Allen Db: Two years of growth hormone therapy in young children with Prader-Willi syndrome: physical and neurodevelopmental benefits. Am J Med Genet A. 2007, 143 (5): 443-8.
Google Scholar
Carrel AL, Moerchen V, Myers SE, Bekx MT, Whitman BY, Allen DB: Growth hormone improves mobility and body composition in infants and toddlers with Prader-Willi syndrome. J Pediatr. 2004, 145 (6): 744-749. 10.1016/j.jpeds.2004.08.002.
CAS
PubMed
Google Scholar
Lindgren AC, Lindberg A: Growth hormone treatment completely normalizes adult height and improves body composition in Prader-Willi syndrome: Experience from KIGS (Pfizer International Growth Database). Horm Res. 2008, 70 (3): 182-7. 10.1159/000145019.
CAS
PubMed
Google Scholar
Mogul HR, Lee PD, Whitman BY, Zipf WB, Frey M, Myers S, Cahan M, Pinyerd B, Southren AL: 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 Endocrinol Metab. 2008, 93 (4): 1238-45. 10.1210/jc.2007-2212.
CAS
PubMed
Google Scholar
Hoybye C: Five year Growth Hormone treatment in adults with Prader-Willi syndrome. Acta Pediatr. 2007, 96 (3): 410-3. 10.1111/j.1651-2227.2006.00051.x.
Google Scholar
Sode-Carlsen R, Farholt S, Rabben KF, Bollerslev J, Schreiner T, Jurik AG, Christiansen JS, Höybye C: One year Growth hormone treatment in adults with Prader-Willi syndrome improves body composition: results from a randomized, placebo controlled study. J Clin Endocrinol Metab. 2010, 95 (11): 4943-4950. 10.1210/jc.2010-0907.
CAS
PubMed
Google Scholar
Akefeldt A, Gillberg C: Behavior and personality characteristics of children and young adults with Prader-Willi syndrome: a controlled study. J Am Acad Child and Adoles Psychiatry. 1999, 38 (6): 761-769. 10.1097/00004583-199906000-00025.
CAS
Google Scholar
Gondoni LA, Vismara L, Marzullo P, Vettor R, Liuzzi A, Grugni G: Growth hormone therapy improves exercise capacity in adult patients with Prader-Willi syndrome. J Endocrinol Invest. 2008, 31 (9): 765-72.
CAS
PubMed
Google Scholar
Bertella L, Mori I, Grugni G, Pignatti R, Ceriani F, Molinari E, Ceccarelli A, Sartorio A, Vettor R, Semenza C: Quality of life and psychological well-being in GH-treated, adult PWS patients: a longitudinal study. J Intellect Disabil Res. 2007, 51 (Pt 4): 302-11.
CAS
PubMed
Google Scholar
Marzullo P, Marcassa C, Campini R, Eleuteri E, Minocci A, Sartorio A, Vettor R, ALiuzzi A, Grugni G: Conditional Cardiovascular Response to Growth Hormone Therapy in Adult Patients with Prader-Willi Syndrome. J Clin Endocrinol Metab. 2007, 92: 1364-1371. 10.1210/jc.2006-0600.
CAS
PubMed
Google Scholar
Einfeld SL, Smith A, Durvasula S, Florio T, Tonge BJ: Behavior and emotional disturbances in Prader-Willi syndrome. Am J Med Genet. 1999, 82 (2): 123-7. 10.1002/(SICI)1096-8628(19990115)82:2<123::AID-AJMG4>3.0.CO;2-C.
CAS
PubMed
Google Scholar
Milner KM, Craig EE, Thompson RJ, Veltman MW, Thomas NS, Roberts S, Bellamy M, Curran SR, Sporikou CM, Bolton PF: Prader-Willi syndrome: intellectual abilities and behavioral features by genetic subtype. J Child Psychol Psychiatry. 2005, 46 (10): 1089-1096. 10.1111/j.1469-7610.2005.01520.x.
PubMed
Google Scholar
Grugni G, Crino A, Bosio L, Corrias A, Cuttini M, De Toni T, Di Battista E, Franzese A, Gargantini L, Greggio N, Iughetti L, Livieri C, Naselli A, Pagano C, Pozzan G, Ragusa L, Salvatoni A, Trifirò G, Beccaria L, Bellizzi M, Bellone J, Brunani A, Cappa M, Caselli G, Cerioni V, Delvecchio M, Giardino D, Iannì F, Memo L, Pilotta A, Pomara C, Radetti G, Sacco M, Sanzari A, Sartorio A, Tonini G, Vettor R, Zaglia F, Chiumello G, Genetic Obesity Study Group of Italian Society of Pediatric Endocrinology and Diabetology (ISPED): The Italian National Survey for Prader-Willi syndrome: An Epidemiologic Study. Am J Med Genet A. 2008, 146 (7): 861-872.
Google Scholar
Cassidy SB, Driscoll DJ: Prader-Willi syndrome. Eur J of Hum Genet. 2009, 17 (1): 3-13. 10.1038/ejhg.2008.165.
CAS
Google Scholar
Gross-Tsur V, Landau YE, Benarroch F, Wertman-Elad R, Shalev R: Cognition, attention and behavior in Prader-Willi syndrome. J Child Neurol. 2001, 16 (4): 288-290. 10.1177/088307380101600411.
CAS
PubMed
Google Scholar
Descheemaeker M, Vogels A, Govers V, Borghgraef M, Willekens D, Swillen A, Verhoeven W, Fryns JP: Prader-Willi Syndrome: new insights in the behavioral and psychiatric spectrum. J Intellect Disabil Res. 2002, 46 (Pt 1): 41-50.
CAS
PubMed
Google Scholar
Whittington JE, Holland A, Webb T, Butler J, Clarke D, Boer H: Cognitive abilities and genotype in a population based sample of people with Prader-Willi syndrome. J Intellect Disabil Res. 2004, 48 (Pt 2): 172-187.
CAS
PubMed
Google Scholar
Copet P, Jauregi J, Laurier V, Ehlinger V, Arnaud C, Cobo AM, Molinas C, Taber M, Thuilleaux D: Cognitive profile in a large French cohort of adults with Prader-Willi syndrome: differences between genotypes. J Intellect Disabil Res. 2010, 54 (3): 204-215. 10.1111/j.1365-2788.2010.01251.x.
CAS
PubMed
Google Scholar
Roof E, Stone W, MacLean W, Feuer ID, Thompson T, Butler MG: Intellectual characteristics of Prader-Willi syndrome: comparison of genetic subtypes. J Intellect Disabil Res. 2000, 44 (Pt 1): 25-30.
PubMed
Google Scholar
Curfs LM, Fryns JP: Prader-Willi syndrome: a review with special attention to the cognitive and behavioral profile. Birth Defects Orig Artic Ser. 1992, 28 (1): 99-104.
CAS
PubMed
Google Scholar
Dykens EM, Cassidy SB, King BH: Maladaptive behavior differences in Prader-Willi syndrome due to paternal deletion versus uniparental disomy. Am J Ment Retard. 1999, 104 (1): 67-77. 10.1352/0895-8017(1999)104<0067:MBDIPS>2.0.CO;2.
CAS
PubMed
Google Scholar
Torrado M, Araoz V, Baialardo E, Abraldes K, Mazza C, Krochik G, Ozuna B, Leske V, Caino S, Fano V, Chertkoff L: An interdisciplinary Study. Clinical-etiologic correlation in children with Prader-Willi syndrome(PWS). Am J Med Genet A. 2007, 143 (5): 460-468.
Google Scholar
Dykens EM, Hodapp RM, Walsh K, Nash J: Adaptive and maladaptive behavior in Prader-Willi syndrome. J Am Acad Child Adolesc Psychiatry. 1992, 31 (6): 1131-1136. 10.1097/00004583-199211000-00023.
CAS
PubMed
Google Scholar
Holland AJ, Treasure J, Coskeran P, Dallow J, Milton N, Hillhouse E: Measurement of excessive appetite and metabolic changes in Prader-Willi syndrome. Int J Obes Relat Metab Disord. 1993, 17 (9): 527-532.
CAS
PubMed
Google Scholar
Goldstone A: Prader-Willi syndrome Advances in genetics, pathophysiology and treatment. Trends Endocrinol Metab. 2004, 15 (1): 12-20. 10.1016/j.tem.2003.11.003.
CAS
PubMed
Google Scholar
Benarroch F, Hirsch HJ, Genstil L, Landau YE, Gross-Tsur V: Prader-Willi syndrome: Medical prevention and behavioral challenges. Child Adolesc Psychiatr Clin N Am. 2007, 16 (3): 695-708. 10.1016/j.chc.2007.03.007.
PubMed
Google Scholar
Whitman B, Jackson K: Tools for Psychological and Behavioral Mangement. Management of Prader-Willi syndrome. Edited by: Butler MG, Lee PDK and Whitman B. 2006, NY: Springer Publishing, 324: 3
Google Scholar
Holland AJ, Whittington JE, Butler J, Webb T, Boer H, Clarke D: Behavioral phenotypes associated with specific genetic disorders: evidence from a population-based study of people with Prader-Willi syndrome. Psychol Med. 2003, 33 (1): 141-153.
CAS
PubMed
Google Scholar
Reddy LA, Pfeiffer S: Behavior and emotional symptoms of children and adolescents with Prader-Willi syndrome. J Autism Dev Disord. 2007, 37 (5): 830-839. 10.1007/s10803-006-0210-2.
PubMed
Google Scholar
Dimitropoulos A, Feurer ID, Butler MG, Thompson T: Emergence of compulsive behavior and tantrums in children with Prader-Willi syndrome. Am J Ment Retard. 2001, 106 (1): 39-51. 10.1352/0895-8017(2001)106<0039:EOCBAT>2.0.CO;2.
CAS
PubMed
Google Scholar
Kim JW, Yoo HJ, Cho SC, Hong K, Kim BN: Behavioral Characteristics of Prader-Willi syndrome in Korea: Comparison with children with mental retardation and normal controls. J Child Neurol. 2005, 20 (2): 134-138. 10.1177/08830738050200021001.
PubMed
Google Scholar
Koenig K, Klin A, Schultz R: Deficits in social attribution ability in Prader-Willi syndrome. J Autism Dev Disord. 2004, 34 (5): 573-582. 10.1007/s10803-004-2551-z.
PubMed
Google Scholar
Whittington J, Holland T: Recognition of emotion in facial expression by people with Prader-Willi syndrome. J Intellect Disabil Res. 2011, 54 (1): 75-85.
Google Scholar
Dykens EM, Roof E: Behavior in Prader-Willi syndrome: relationship to genetic subtypes and age. J Child Psychol Psychiatry. 2008, 49 (9): 1001-8. 10.1111/j.1469-7610.2008.01913.x.
PubMed
Google Scholar
Hartley SL, Maclean WE, Butler MG, Zarcone J, Thompson T: Maladaptive behaviors and risk factors among genetic subtypes of Prader-Willi syndrome. Am J Med Genet. 2005, 136 (2): 140-145.
PubMed Central
PubMed
Google Scholar
Arron K, Oliver C, Moss J, Berg K: Burbidge. The prevalence and phenomenology of self injurious and aggressive behavior in genetic syndromes. J Intellect Disabil Res. 2011, 55 (2): 109-120. 10.1111/j.1365-2788.2010.01337.x.
CAS
PubMed
Google Scholar
Morgan JR, Storch EA, Woods DA, Bodzin D, Lewin AB, Murphy TK: A Preliminary Analysis of the phenomenology of skin picking in Prader-Willi syndrome. Child Psychiatry Hum Dev. 2010, 41 (4): 448-463. 10.1007/s10578-010-0180-7.
PubMed
Google Scholar
Fan Z, Greenwood R, Fisher A, Pendyal S, Powell CM: Characteristics and frequency of seizure disorder in 56 patients with Prader-Willi syndrome. Am J Med Genet A. 2009, 149A (7): 1581-1584. 10.1002/ajmg.a.32934.
PubMed
Google Scholar
Cassidy SB, Devi A, Mukaida C: Aging in Prader-Willi syndrome: 22 patients over age 30 years. Proc Greenwood Genet Cent. 1994, 13: 102-103.
Google Scholar
Vogels A, De Hert M, Descheemaeker MJ, Govers V, Devriendt K, Legius E, Prinzie P, Fryns JP: Psychotic disorders in Prader-Willi syndrome. Am J Med Genet A. 2004, 127A (3): 238-243. 10.1002/ajmg.a.30004.
CAS
PubMed
Google Scholar
Mantoulan C, Payoux P, Diene G, Glattard M, Roge B, Molinas C, Sevely A, Zilbovicius M, Celsis P, Tauber M: PET scan perfusion imaging in the Prader-Willi syndrome: new insights into the psychiatric and social disturbances. J Cereb Blood Flow Metab. 2011, 31 (1): 275-82. 10.1038/jcbfm.2010.87.
PubMed Central
PubMed
Google Scholar
Shapira NA, Lessing MC, He AG, James GA, Driscoll DJ, Liu Y: Satiety dysfunction in Prader-Willi syndrome demonstrated by f MRI. J Neurol Neurosurg Psychiatry. 2005, 76 (2): 260-262. 10.1136/jnnp.2004.039024.
PubMed Central
CAS
PubMed
Google Scholar
Holsen LM, Zarcone JR, Chambers R, Butler MG, Bittel DC, Brooks WM, Thompson T, Savage CR: Genetic subtype differences in neural circuitry of food motivation in Prader-Willi syndrome. Int J Obes (Lond). 2009, 33 (2): 273-283. 10.1038/ijo.2008.255.
CAS
Google Scholar
Miller JL, James GA, Goldstone AP, Couch J, He G, Driscoll DJ, Liu Y: Enhanced activation of reward mediating prefrontal regions in response to food stimuli in Prader-Willi syndrome. J Neurol Neurosurg Psychiatry. 2007, 78 (6): 615-619. 10.1136/jnnp.2006.099044.
PubMed Central
PubMed
Google Scholar
Arens R, Gozal D, Omlin KJ, Livingston FR, Liu J, Keens TG, Ward SL: Hypoxic and hypercapneic ventilatory responses in Prader-Willi syndrome. J Appl Physiol. 1994, 77 (5): 2224-30.
CAS
PubMed
Google Scholar
Arens R, Gozal D, Burrell BC, Bailey SL, Bautista DB, Keens TJ, Ward Sl: Arousal and cardiorespiratory responses to hypoxemia in Prader-Willi syndrome. Am J Respir Crit Care Med. 1996, 153 (1): 283-7.
CAS
PubMed
Google Scholar
Livingston FR, Arens R, Bailey SL, Keen TG, Ward SL: Hypercapnic arousal responses in Prader-Willi syndrome. Chest. 1995, 108 (6): 1627-31. 10.1378/chest.108.6.1627.
CAS
PubMed
Google Scholar
Menendez AA: Abnormal ventilatory responses in patients with Prader-Willi syndrome. Eur J Pediatr. 1999, 158 (11): 941-2. 10.1007/s004310051247.
CAS
PubMed
Google Scholar
Festen DA, Wevers M, DeWeerd AW, VandenBossche RA, Duivenvorden HJ, Otten BJ, Wit JM, Hokken-Koelega AC: Psychomotor development in infants with Prader-Willi syndrome and association with sleep related breathing disorders. Pediatr Res. 2007, 62: 221-224. 10.1203/PDR.0b013e31809871dd.
PubMed
Google Scholar
Cataletto M, Hertz G, Angulo M: Sleep in Infants with Prader-Willi syndrome: analysis of sleep patterns and early identification of sleep disordered breathing. Rom J Rare Dis. 2010, 1 (1):
Miller J: Sleep Disordered breathing in Infants with Prader-Willi syndrome during the first 6 weeks of Growth hormone therapy: A pilot study. J Clin Sleep Med. 2009, 5 (5):
Clarke DJ, Water J, Corbett JA: Adults with Prader-Willi syndrome: abnormalities of sleep and behaviours. JR Soc Med. 1989, 82 (1): 21-4.
CAS
Google Scholar
Richdale AL, Cotton S, Hibbit K: sleep and behavior disturbance in Prader-Willi syndrome: a questionnaire study. J Intellect Disabil Res. 1999, 43 (Pt 5): 380-92.
PubMed
Google Scholar
Hertz G, Cataletto M, Feinsilver S, Angulo M: REM sleep abnormalities in Prader-Willi syndrome: A genetic link. Neurology. 1993, 43 (4): 56-
Google Scholar
Hertz G, Cataletto M, Feinsilver S, Angulo M: Sleep and breathing patterns in patients with Prader-Willi syndrome (PWS): effect of age and gender Sleep. 1993, 16: 366-71.
Google Scholar
Vgontzas AN, Bixler EO, Kales A, Centurione A, Rogan PK, Mascari M, Vela Bueno A: Daytime sleepiness and REM abnormalities in Prader-Willi syndrome: evidence of generalized hyperarousal. Int J Neurosci. 1996, 87 (3): 127-39. 10.3109/00207459609070832.
CAS
PubMed
Google Scholar
Vgontzas AN, Kales A, Seip J, Mascari MJ, Bixler EO, Myers DC, Vela-Bueno AV, Rogan PK: Relationship of sleep abnormalities to patient genotype in Prader-Willi syndrome. Am J Med Genet. 1996, 67 (5): 478-83. 10.1002/(SICI)1096-8628(19960920)67:5<478::AID-AJMG7>3.0.CO;2-G.
CAS
PubMed
Google Scholar
Maas AP, Sinnema M, Didden R, Maaskant MA, Smits MG, Schrander-Stumpel CT, Curfs LM: Sleep disturbances and behavioural problems in adults with Prader-Willi syndrome. J Intellect Disabil Res. 2010, 54 (10): 906-17. 10.1111/j.1365-2788.2010.01306.x.
CAS
PubMed
Google Scholar
Helbing-Zwanenberg B, Kamphuisen HA, Mourtazaev MS: The origin of excessive daytime sleepiness in the Prader-Willi syndrome. J Intellect Disabil Res. 1993, 37: 533-41.
Google Scholar
Manni R, Politini L, Nobili L, Ferrillo F, Liveri C, Veneselli E, Bianchieri R, Martinetti M, Tartara A: Hypersomnia in the Prader-Willi syndrome: clinical-electrophysiological features and underlying factors. Clin Neurophysiol. 2001, 112 (5): 800-805. 10.1016/S1388-2457(01)00483-7.
CAS
PubMed
Google Scholar
Hertz G, Cataletto M, Feinsilver S: Angulo, Developmental Trends in Sleep and breathing patterns in patients with Prader-Willi syndrome. Am J Med Genet. 1995, 56: 188-190. 10.1002/ajmg.1320560215.
CAS
PubMed
Google Scholar
Caffermann D, McEvoy ED, O'Donoghue F, Lushington K: Prader-Willi syndrome and Excessive Daytime Sleepiness. Sleep Med Rev. 2008, 12 (1): 65-75. 10.1016/j.smrv.2007.08.005.
Google Scholar
Nevsimalova S, Vankova J, Stepanova I, Seemanova E, Mignot E, Nishino S: Hypocretin deficiency in Prader-Willi syndrome. Eur J Neuro. 2005, 12 (1): 70-72. 10.1111/j.1468-1331.2004.00969.x.
CAS
Google Scholar
Fronczek R, Lammers GJ, Balesar R, Unmehopa UA, Swaab DF: The number of hypothalamic hypocretin (orexin) neurons is not affected in Prader-Willi syndrome. J Clin Endocrinol Metab. 2005, 90 (9): 5466-70. 10.1210/jc.2005-0296.
CAS
PubMed
Google Scholar
Hertz G, McGrath A, Cataletto M: excessive daytime sleepiness in Prader-Willi syndrome: behavioral and cognitive measures. Sleep. 1999, 22 (Suppl 1): 319-
Google Scholar
Tauber M, Diene G, Molinas C, Hebert M: Review of 64 cases of death in children with Prader-Willi syndrome(PWS). Am J Med Genet A. 2008, 146 (7): 881-7.
Google Scholar
Schoeller DA, Levetsky LI, Bandini LG, Dietz WW, Walcak A: Energy expenditure and body composition in Prader-Willi syndrome. Metabolism. 1988, 37: 115-120. 10.1016/S0026-0495(98)90003-8.
CAS
PubMed
Google Scholar
Butler MG, Theodore MF, Bittel DC, Donnelly JE: Energy Expenditure and physical activity in Prader-Willi syndrome: comparison with obese subjects. AM J Med Genet. 2007, 143: 449-59.
Google Scholar
Lindemark M, Trygg K, Giltvedt K, Kolset S: Nutrient intake of young children with Prader-Willi syndrome. Food and Nutrition Research. 2010, 54: 2112-
Google Scholar
de Lind van Wijngaarden RF, de Klerk LW, Festen DA: Hokken-Koelega AC 2008 Scoliosis in Prader-Willi syndrome: prevalence, effects of age, gender, body mass index, lean body mass and genotype. Arch Dis Child. 93: 1012-1016.
Nagai T, Obata K, Ogata T, Murakami N, Katada Y, Yoshino A, Sakazume S, Tomita Y, Sakuta R, Niikawa N: Growth hormone therapy and scoliosis in patients with Prader-Willi syndrome. Am J Med Genet A. 2006, 140: 1623-1627.
CAS
PubMed
Google Scholar
Odent T, Accadbled F, Koureas G, Cournot M, Moine A, Diene G, Molinas C, Pinto G, Tauber M, Gomes B, de Gauzy JS, Glorion C: Scoliosis in patients with Prader-Willi syndrome. Pediatrics. 2008, 122: 499-503. 10.1542/peds.2007-3487.
Google Scholar
Greggi T, Martikos K, Lolli F, Bakaloudia G, DiSilvestre M, Cioni A, Barbanti Brodaom G, Nagai T, Obata K, Ogata T: Growth hormone therapy and scoliosis in patients with Prader-Willi syndrome. Am J Med Genet. 2006, 140: 1623-27.
Google Scholar
Odent T, Accadbled F, Koureas G, Cournot M, Moine A, Diene G, Molinas C, Pinto G, Tauber M, Gomes B, de Gauzy JS, Glorion C: Scoliosis in patients with Prader-Willi syndrome. Pediatr. 2008, 122: e 499-503.
Google Scholar
Shim JS, Lee SH, Seo SW, Koo KH, Jin DK: The Musculoskeletal manifestations of Prader-Willi syndrome. J Pediatr Orthop. 2010, 30 (4): 390-395. 10.1097/BPO.0b013e3181da857d.
PubMed
Google Scholar
Vismara L, Romei M, Galli M, Montesano A, Baccalaro G: Clinical implications of gait analysis in the rehabilitation of adult patients with Prader-Willi syndrome: a cross sectional comparative study. J Neuroeng Rehabil. 2007, 4: 14-10.1186/1743-0003-4-14.
PubMed Central
PubMed
Google Scholar
Cimolin V, Galli M, Grugni G, Vismara L, Albertini G, Rigoldi C, Capodaglio P: Gait patterns in Prader-Willi and Down syndrome patients. J Neuroeng Rehabil. 2010, 7: 28-10.1186/1743-0003-7-28.
PubMed Central
PubMed
Google Scholar
Einfeld SL, Kavanaugh SJ, Smith A, Evans EJ, Tonge BJ, Taffe J: Mortality in Prader-Willi syndrome. Am J Ment Retard. 2006, 111 (3): 193-8. 10.1352/0895-8017(2006)111[193:MIPS]2.0.CO;2.
PubMed Central
PubMed
Google Scholar