AbreuAP, DauberA, MacedoDB, NoelSD, BritoVN, GillJC, CukierP, ThompsonIR, NavarroVM, GagliardiPC, RodriguesT, KochiC, LonguiCA, BeckersD, de ZegherF, MontenegroLR, MendoncaBB, CarrollRS, HirschhornJN, LatronicoAC, KaiserUB. Central precocious puberty caused by mutations in the imprinted gene MKRN3.N Engl J Med.2013;368:2467-75. [PMC free article: PMC3808195] [PubMed: 23738509]
AlvesC, FrancoRR. Prader-Willi syndrome: endocrine manifestations and management.Arch Endocrinol Metab.2020;64:223-34. [PMC free article: PMC10522225] [PubMed: 32555988]
AndrieuD, MezianeH, MarlyF, AngelatsC, FernandezPA, MuscatelliF. Sensory defects in Necdin deficient mice result from a loss of sensory neurons correlated within an increase of developmental programmed cell death.BMC Dev Biol.2006;6:56 [PMC free article: PMC1687209] [PubMed: 17116257]
Ayet-RogerA, Joga-ElviraL, CaixàsA, and CorripioR. Cognitive and adaptive effects of early growth hormone treatment in Prader-Willi syndrome patients: a cohort study.J Clin Med.2022;11:1592. [PMC free article: PMC8955812] [PubMed: 35329918]
BakkerNE, WolffenbuttelKP, LooijengaLH, Hokken-KoelegaAC. Testes in infants with Prader-Willi syndrome: human chorionic gonadotropin treatment, surgery and histology.J Urol.2015;193:291-8. [PubMed: 25109686]
Ben-Abdallah-BouhjarI, HannachiH, LabalmeA, GmidèneA, MougouS, SoyahN, GribaaM, SanlavilleD, ElghezalH, SaadA. Chromosomal microarray analysis of functional Xq27-qter disomy and deletion 3p26.3 in a boy with Prader-Willi like features and hypotonia.Eur J Med Genet.2012;55:461-5. [PubMed: 22683462]
BennettJA, GermaniT, HaqqAM, ZwaigenbaumL. Autism spectrum disorder in Prader-Willi syndrome: a systematic review.Am J Med Genet A.2015;167A:2936-44. [PubMed: 26331980]
BeygoJ, BuitingK, RamsdenSC, EllisR, Clayton-SmithJ, KanberD. Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes.Eur J Hum Genet.2019;27:1326-40. [PMC free article: PMC6777528] [PubMed: 31235867]
BohonowychJE, Vrana-DiazC, MillerJL, McCandlessSE, StrongTV. Incidence of strabismus, strabismus surgeries, and other vision conditions in Prader-Willi syndrome: data from the Global Prader-Willi Syndrome Registry.BMC Ophthalmol.2021:21;296 [PMC free article: PMC8359621] [PubMed: 34380467]
BonagliaMC, CicconeR, GimelliG, GimelliS, MarelliS, VerheijJ, GiordaR, GrassoR, BorgattiR, PagoneF, RodrigueqL, Martinez-FriasML, van RavenswaaijC, ZuffardiO. Detailed phenotype-genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader-Willi-like phenotype.Eur J Hum Genet.2008;16:1443-9. [PubMed: 18648397]
BonnefondA, RaimondoA, StutzmannF, GhoussainiM, RamachandrappaS, BerstenDC, DurandE, VatinV, BalkauB, LantieriO, RaverdyV, PattouF, Van HulW, Van GaalL, PeetDJ, WeillJ, MillerJL, HorberF, GoldstoneAP, DriscollDJ, BruningJB, MeyreD, WhitelawML, FroguelP. Loss-of-function mutations in SIM1 contribute to obesity and Prader-Willi-like features.J Clin Invest.2013;123:3037-41. [PMC free article: PMC3696559] [PubMed: 23778136]
BonnotO, CohenD, ThuilleauxD, ConsoliA, CabalS, TauberM.Psychotropic treatment sin Prader-Willi syndrome: a critical review of published literature.Eur J Pediatr.2016;175: 9-18 [PubMed: 26584571]
BoyarFZ, WhitneyMM, LossieAC, GrayBA, KellerKL, StalkerHJ, ZoriRT, GeffkenG, MutchJ, EdgePJ, VoellerKS, WilliamsCA, DriscollDJ. A family with a grand-maternally derived interstitial duplication of proximal 15q.Clin Genet.2001;60:421-30. [PubMed: 11846734]
BruniO, VerrilloE, NovelliL, FerriR.Prader-Willi syndrome: sorting out the relationships between obesity, hypersomnia, and sleep apnea.Curr Opin Pulm Med.2010;16:568-73. [PubMed: 20814307]
BuitingK, GrossS, LichC, Gillessen-KaesbachG, el-MaarriO, HorsthemkeB.Epimutations in Prader-Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defect.Am J Hum Genet.2003;72:571-7. [PMC free article: PMC1180233] [PubMed: 12545427]
BurmanP, RitzenEM, LindgrenAC. Endocrine dysfunction in Prader-Willi syndrome: a review with special reference to GH.Endocr Rev.2001;22:787-99 [PubMed: 11739333]
ButlerMG. Benefits and limitations of prenatal screening for Prader-Willi syndrome.Prenat Diagn.2017;37:81-94. [PMC free article: PMC5243230] [PubMed: 27537837]
ButlerMG, HartinSN, HossainWA, ManzardoAM, KimonisV, DykensE, GoldJA, KimSJ, WeisenselN, TamuraR, MillerJL, DriscollDJ. Molecular genetic classification in Prader-Willi syndrome: a multisite cohort study.J Med Genet.2019a;56:149-53. [PMC free article: PMC7387113] [PubMed: 29730598]
ButlerMG, LeeJ, CoxDM, ManzardoAM, GoldJA, MillerJL, RoofE, DykensE, KimonisV, DriscollDJ. Growth charts for Prader-Willi syndrome during growth hormone treatment.Clin Pediatr (Phila). 2016;55:957-74. [PMC free article: PMC5922433] [PubMed: 26842920]
ButlerMG, LeeJ, ManzardoAM, GoldJA, MillerJL, KimonisV, DriscollDJ. Growth charts for non-growth hormone treated Prader-Willi syndrome.Pediatrics.2015;135:e126-35. [PMC free article: PMC4279067] [PubMed: 25489013]
ButlerMG, ManzardoAM, HeinemannJ, LokerC, LokerJ. Causes of death in Prader-Willi syndrome: Prader-Willi Syndrome Association (USA) 40-year mortality survey.Genet Med.2017;19:635-42. [PMC free article: PMC5435554] [PubMed: 27854358]
ButlerMG, MatthewsNA, PatelN, SurampalliA, GoldJA, KhareM, ThompsonT, CassidySB, KimonisVE. Impact of genetic subtypes of Prader-Willi syndrome with growth hormone therapy on intelligence and body mass index.Am J Med Genet A.2019b;179:1826-35. [PMC free article: PMC7737232] [PubMed: 31313492]
ButlerMG, SturichJ, LeeJ, MyersSE, WhitmanBY, GoldJA, KimonisV, ScheimannA, TerrazasN, DriscollDJ. Growth standards of infants with Prader-Willi syndrome.Pediatrics.2011;127:687-95 [PMC free article: PMC3065075] [PubMed: 21402637]
ButlerMG, SturichJ, MyersSE, GoldJA, KimonisV, DriscollDJ. Is gestation in Prader-Willi syndrome affected by the genetic subtype?J Assist Reprod Genet.2009;26:461-6. [PMC free article: PMC2767487] [PubMed: 19760168]
CassidySB, DriscollDJ. Prader-Willi Syndrome.Eur J Hum Genet.2009;17:3-13. [PMC free article: PMC2985966] [PubMed: 18781185]
CassidySB, SchwartzS, MillerJL, DriscollDJ. Prader-Willi syndrome.Genet Med.2012;14:10-26. [PubMed: 22237428]
ChungMS, LangouëtM, ChamberlainSJ, CarmichaelGG. Prader-Willi syndrome: reflections on seminal studies and future therapies.Open Biol.2020;10:200195. [PMC free article: PMC7536080] [PubMed: 32961075]
de Lind van WijngaardenRF, OttenBJ, FestenDA, JoostenKF, de JongFH, SweepFC, Hokken-KoelegaAC. High prevalence of central adrenal insufficiency in patients with Prader-Willi syndrome.J Clin Endocrinol Metab.2008;93:1649-54. [PubMed: 18303077]
DeschL, MarleN, Mosca-BoidronAL, FaivreL, EliadeM, PayetM, RagonC, ThevenonJ, AralB, RagotS, ArdalanA, DhouibiN, BensignorC, Thauvin-RobinetC, El ChehadehS, CallierP. 6q16.3q23.3 duplication associated with Prader-Willi-like syndrome.Mol Cytogenet.2015;8:42 [PMC free article: PMC4479069] [PubMed: 26110021]
de VriesBB, FrynsJP, ButlerMG, CanzianiF, Wesby-van SwaayE, van HemelJO, OostraBA, HalleyDJ, NiermeijerMF. Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype.J Med Genet.1993;30:761-6. [PMC free article: PMC1016534] [PubMed: 8411072]
DieneG, MimounE, FeigerlovaE, CaulaS, MolinasC, GrandjeanH, TauberM, et al.Endocrine disorders in children with Prader-Willi syndrome--data from 142 children of the French database.Horm Res Paediatr.2010;74:121-8. [PubMed: 20395666]
DimitropoulosA, FerrantiA, LemlerM. Expressive and receptive language in Prader-Willi syndrome: report on genetic subtype differences.J Commun Disord.2013;46:193-201 [PubMed: 23295077]
DuBoseAJ, JohnstoneKA, SmithEY, HallettRA, ResnickJL. Atp10a, a gene adjacent to the PWS/AS gene cluster, is not imprinted in mouse and is insensitive to the PWS-IC.Neurogenetics.2010;11:145-51. [PubMed: 19894069]
DuisJ, van WattumPJ, ScheimannA, SalehiP, BrokampE, FairbrotherL, ChildersA, SheltonAR, BinghamNC, ShoemakerAH, MillerJL. A multidisciplinary approach to the clinical management of Prader-Willi syndrome.Mol Genet Genomic Med.2019;7:e514. [PMC free article: PMC6418440] [PubMed: 30697974]
DykensEM. Aging in rare intellectual disability syndromes.Dev Disabil Res Rev.2013;18:75-83. [PubMed: 23949831]
DykensEM. Are jigsaw puzzle skills 'spared' in persons with Prader-Willi syndrome?J Child Psychol Psychiatry.2002;43:343-52. [PubMed: 11944876]
DykensEM, MillerJ, AnguloM, RoofE, ReidyM, HatoumHT, WilleyR, BoltonG, KornerP. Intranasal carbetocin reduces hyperphagia in individuals with Prader-Willi syndrome.JCI Insight.2018;3:e98333. [PMC free article: PMC6124421] [PubMed: 29925684]
Eldar-GevaT, HirschHJ, BenarrochF, RubinsteinO, Gross-TsurV. 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;162:377-84. [PubMed: 19946044]
Eldar-GevaT, HirschHJ, RabinowitzR, BenarrochF, RubinsteinO, Gross-TsurV. Primary ovarian dysfunction contributes to the hypogonadism in women with Prader-Willi Syndrome.Horm Res.2009;72:153-9. [PubMed: 19729946]
El KhattabiL, GuimiotF, PipirasE, AndrieuxJ, BaumannC, BouquillonS, DelezoideAL, DelobelB, DemurgerF, DessuantH, DrunatS, DubourgC, DupontC, FaivreL, Holder-EspinasseM, JaillardS, JournelH, LyonnetS, MalanV, MasurelA, MarleN, MissirianC, MoermanA, MonclaA, OdentS, PalumboO, PalumboP, RavelA, RomanaS, TabetAC, ValdugaM, VermelleM, CarellaM, DupontJM, VerloesA, BenzackenB, DelahayeA. Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.Eur J Hum Genet.2015;23:1010-8. [PMC free article: PMC4795105] [PubMed: 25351778]
Fernández-NovoaMC, VargasMT, VizmanosJL, GarnachoC, MartínezJJ, SanzP, LluchD. Prader-Willi syndrome large deletion on two brothers. Is this the exception that confirm the rule?Rev Neurol.2001;32:935-8. [PubMed: 11424049]
FestenDA, de WeerdAW, van den BosscheRA, JoostenK, HoeveH, Hokken-KoelegaAC. Sleep-related breathing disorders in prepubertal children with Prader-Willi syndrome and effects of growth hormone treatment.J Clin Endocrinol Metab.2006;91:4911-5 [PubMed: 17003096]
GantzMG, DriscollDJ, MillerJL, DuisJB, ButlerMG, GourashL, ForsterJ, ScheimannAO. Critical review of bariatric surgical outcomes in patients with Prader-Willi syndrome and other hyperphagic disorders.Obesity (Silver Spring). 2022;30:973-81. [PubMed: 35416416]
GilmourJ, SkuseD, PembreyM. Hyperphagic short stature and Prader-Willi syndrome: a comparison of behavioural phenotypes, genotypes and indices of stress.Br J Psychiatry.2001;179:129-37 [PubMed: 11483474]
GlennCC, DengG, MichaelisRC, TarletonJ, PhelanMC, SurhL, YangTP, DriscollDJ. DNA methylation analysis with respect to prenatal diagnosis of the Angelman and Prader-Willi syndromes and imprinting.Prenat Diagn.2000;20:300-6. [PubMed: 10740202]
GodlerDE, LingL, GamageD, BakerEK, BuiM, FieldMJ, RogersC, ButlerMG, MurgiaA, LeonardiE, PolliR, SchwartzCE, SkinnerCD, AlliendeAM, Santa MariaL, PittJ, GreavesR, FrancisD, OertelR, WangM, SimonsC, AmorDJ. Feasibility of screening for chromosome 15 imprinting disorders in 16 579 newborns by using a novel genomic workflow.JAMA Netw Open.2022;5:e2141911. [PMC free article: PMC8728620] [PubMed: 34982160]
GrossN, RabinowitzR, Gross-TsurV, HirschHJ, Eldar-GevaT. Prader-Willi syndrome can be diagnosed prenatally.Am J Med Genet A.2015;167A:80-5. [PubMed: 25338954]
GrossRD, GisserR, CherpesG, HartmanK, MaheshwaryR. Subclinical dysphagia in persons with Prader-Willi syndrome.Am J Med Genet A.2017;173:384-94. [PubMed: 27759943]
Gross-TsurV, HirschHJ, BenarrochF, Eldar-GevaT. The FSH-inhibin axis in Prader-Willi syndrome: Heterogeneity of gonadal dysfunction.Reprod Biol Endocrinol.2012;10:39 [PMC free article: PMC3472203] [PubMed: 22559970]
GrugniG, MarzulloP, RagusaL, SartorioA, TrifiroG, LiuzziA, CrinoA.Impairment of GH responsiveness to combined GH-releasing hormone and arginine administration in adult patients with Prader-Willi syndrome.Clin Endocrinol (Oxf). 2006;65:492-9 [PubMed: 16984242]
HirschHJ, Eldar-GevaT, BenarrochF, RubinsteinO, Gross-TsurV. Primary testicular dysfunction is a major contributor to abnormal pubertal development in males with Prader-Willi syndrome.J Clin Endocrinol Metab.2009;94:2262-8 [PubMed: 19401370]
HogartA, PatzelKA, LaSalleJM. Gender influences monoallelic expression of ATP10A in human brain.Hum Genet.2008;124:235-42. [PMC free article: PMC2830741] [PubMed: 18726118]
HosokiK, KagamiM, TanakaT, KubotaM, KurosawaK, KatoM, UetakeK, TohyamaJ, OgataT, SaitohS.Maternal uniparental disomy 14 syndrome demonstrates Prader-Willi syndrome-like phenotype.J Pediatr.2009;155:900-903.e1. [PubMed: 19800077]
HöybyeC.Five-years growth hormone (GH) treatment in adults with Prader-Willi syndrome.Acta Paediatr.2007;96:410-3 [PubMed: 17407467]
HöybyeC, HollandAJ, DriscollDJ, et al.Time for a general approval of growth hormone treatment in adults with Prader-Willi syndrome.Orphanet J Rare Dis.2021;16:69. [PMC free article: PMC7869190] [PubMed: 33557878]
IshiiA, IharaH, OgataH, SayamaM, GitoM, MurakamiN, AyabeT, OtoY, TakahashiA, NagaiT. Autistic, aberrant, and food-related behaviors in adolescents and young adults with Prader-Willi syndrome: the effects of age and genotype.Behav Neurol.2017;2017:4615451. [PMC free article: PMC5758853] [PubMed: 29440778]
KimSJ, MillerJL, KuipersPJ, GermanJR, BeaudetAL, SahooT, DriscollDJ. Unique and atypical deletions in Prader-Willi syndrome reveal distinct phenotypes.Eur J Hum Genet.2012;20:283-90. [PMC free article: PMC3283188] [PubMed: 22045295]
KokkonenH, LeistiJ. An unexpected recurrence of Angelman syndrome suggestive of maternal germ-line mosaicism of del(15)(q11q13) in a Finnish family.Hum Genet.2000;107:83-5. [PubMed: 10982040]
LossieAC, WhitneyMM, AmidonD, DongHJ, ChenP, TheriaqueD, HutsonA, NichollsRD, ZoriRT, WilliamsCA, DriscollDJ. Distinct phenotypes distinguish the molecular classes of Angelman syndrome.J Med Genet.2001;38:834-45. [PMC free article: PMC1734773] [PubMed: 11748306]
LukusaT, FrynsJP. Pure distal monosomy 10q26 in a patient displaying clinical features of Prader-Willi syndrome during infancy and distinct behavioural phenotype in adolescence.Genet Couns.2000;11:119-26. [PubMed: 10893663]
MacedoDB, AbreuAP, ReisAC, MontenegroLR, DauberA, BeneduzziD, CukierP, SilveiraLF, TelesMG, CarrollRS, JuniorGG, FilhoGG, GucevZ, ArnholdIJ, de CastroM, MoreiraAC, MartinelliCEJr, HirschhornJN, MendoncaBB, BritoVN, AntoniniSR, KaiserUB, LatronicoAC. Central precocious puberty that appears to be sporadic caused by paternally inherited mutations in the imprinted gene makorin ring finger 3.J Clin Endocrinol Metab.2014;99:E1097-103. [PMC free article: PMC4037732] [PubMed: 24628548]
MahmoudR, KimonisV, ButlerMG. Clinical trials in Prader-Willi syndrome: a review.Int J Mol Sci.2023;24:2150. [PMC free article: PMC9916985] [PubMed: 36768472]
MahmoudR, LeonenkoA, ButlerMG, FlodmanP, GoldJA, MillerJL, RoofE, DykensE, DriscollDJ, KimonisV. Influence of molecular classes and growth hormone treatment on growth and dysmorphology in Prader-Willi syndrome: a multicenter study.Clin Genet.2021;100:29-39. [PMC free article: PMC8568051] [PubMed: 33615449]
MaillardAM, RuefA, PizzagalliF, MigliavaccaE, HippolyteL, AdaszewskiS, DukartJ, FerrariC, ConusP, MännikK, ZazhytskaM, SiffrediV, MaederP, KutalikZ, KherifF, HadjikhaniN, BeckmannJS, ReymondA, DraganskiB, JacquemontS. The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity.Mol Psychiatry.2015;20:140-7. [PMC free article: PMC4320286] [PubMed: 25421402]
ManningKE, Beresford-WebbJA, AmanLCS, RingHA, WatsonPC, PorgesSW, OliverC, JenningsSR, HollandAJ. Transcutaneous vagus nerve stimulation (t-VNS): a novel effective treatment for temper outbursts in adults with Prader-Willi Syndrome indicated by results from a non-blind study.PLoS One.2019;14:e0223750. [PMC free article: PMC6890246] [PubMed: 31794560]
McCandlessSE. Clinical report—health supervision for children with Prader-Willi syndrome.Pediatrics.2011;127:195-204. [PubMed: 21187304]
MillerJ, SilversteinJ, ShusterJ, DriscollDJ, WagnerM. Short-term effects of growth hormone on sleep abnormalities in Prader-Willi syndrome.J Clin Endocrinol Metab.2006b;91:413-7. [PubMed: 16317059]
MillerJL, GeversE, BridgesN, YanovskiJA, SalehiP, ObrynbaKS, FelnerEI, BirdLM, ShoemakerAH, AnguloM, ButlerMG, StevensonD, AbuzzahabJ, BarrettT, LahM, LittlejohnE, MathewV, CowenNM, BhatnagarA. Diazoxide choline extended-release tablet in people with Prader-Willi syndrome: a double-blind, placebo-controlled trial.J Clin Endocrinol Metab.2023;108:1676-85. [PMC free article: PMC10271219] [PubMed: 36639249]
MillerJL, GoldstoneAP, CouchJA, ShusterJ, HeG, DriscollDJ, LiuY, SchmalfussIM. Pituitary abnormalities in Prader-Willi syndrome and early onset morbid obesity.Am J Med Genet A.2008;146A:570-7. [PubMed: 17431897]
MillerJL, LynnCH, DriscollDC, GoldstoneAP, GoldJA, KimonisV, DykensE, ButlerMG, ShusterJJ, DriscollDJ. Nutritional phases in Prader-Willi syndrome.Am J Med Genet A.2011;155A:1040-9. [PMC free article: PMC3285445] [PubMed: 21465655]
Pacoricona AlfaroDL, LemoineP, EhlingerV, MolinasC, DieneG, ValetteM, PintoG, CoupayeM, Poitou-BernertC, ThuilleauxD, ArnaudC, TauberM. Causes of death in Prader-Willi syndrome: lessons from 11 years' experience of a national reference center.Orphanet J Rare Dis.2019;14:238. [PMC free article: PMC6829836] [PubMed: 31684997]
PrianoL, GrugniG, MiscioG, GuastamacchiaG, ToffoletL, SartorioA, MauroA. Sleep cycling alternating pattern (CAP) expression is associated with hypersomnia and GH secretory pattern in Prader-Willi syndrome.Sleep Med.2006;7:627-33 [PubMed: 17023209]
ProffittJ, OsannK, McManusB, KimonisVE, HeinemannJ, ButlerMG, StevensonDA, GoldJA. Contributing factors of mortality in Prader-Willi syndrome.Am J Med Genet A.2019;179:196-205. [PMC free article: PMC6349475] [PubMed: 30569567]
RitwikP, VuJ. Bridging oral and systemic health in children with Prader-Willi syndrome: Case reports and dental treatment recommendations.Curr Pediatr Rev.2021;17:336-44. [PubMed: 34517804]
RochaCF, PaivaCL. Prader-Willi-like phenotypes: a systematic review of their chromosomal abnormalities.Genet Mol Res.2014;13:2290-8. [PubMed: 24737477]
RoofE, DealCL, McCandlessSE, CowanRL, MillerJL, HamiltonJK, RoederER, McCormackSE, Roshan LalTR, Abdul-LatifHD, HaqqAM, ObrynbaKS, TorchenLC, VidmarAP, ViskochilDH, ChanoineJP, LamCKL, PierceMJ, WilliamsLL, BirdLM, ButlerMG, JensenDE, MyersSE, OatmanOJ, BaskaranC, ChalmersLJ, FuC, AlosN, McLeanSD, ShahA, WhitmanBY, BlumensteinBA, LeonardSF, ErnestJP, CormierJW, CotterSP, RymanDC. Intranasal carbetocin reduces hyperphagia, anxiousness and distress in Prader-Willi syndrome: CARE-PWS phase 3 trial.J Clin Endocrinol Metab.2023;108:1696-708. [PMC free article: PMC10271225] [PubMed: 36633570]
RosenbergAGW, PellikaanK, PoitouC, GoldstoneAP, HøybyeC, MarkovicT, GrugniG, CrinòA, CaixàsA, CoupayeM, Van Den BergSAA, Van Der LelyAJ, De GraaffLCG. Central adrenal insufficiency is rare in adults with Prader-Willi syndrome.J Clin Endocrinol Metab.2020;105:e2563-71. [PMC free article: PMC7211032] [PubMed: 32232324]
RosenbergAGW, WellinkCM, Tellez GarciaJM, PellikaanK, Van AbswoudeDH, DavidseK, Van ZutvenLJCM, BrüggenwirthHT, ResnickJL, Van der LelyAJ, De GraaffLCG. Health problems in adults with Prader-Willi syndrome of different genetic subtypes: cohort study, meta-analysis and review of the literature.J Clin Med.2022;11:4033. [PMC free article: PMC9323859] [PubMed: 35887798]
Scheimann AO, Butler MG, Miller JL, Lee PD, Stevenson DA, Heinemann J, Driscoll DJ. Letter to the editor: Long-term experience with duodenal switch in adolescents. Obes Surg. 2012;22:517-8. [PubMed: 21874367]
SchwartzL, CaixàsA, DimitropoulosA, DykensE, DuisJ, EinfeldS, GallagherL, HollandA, RiceL, RoofE, SalehiP, StrongT, TaylorB, Woodco*ckK.Behavioral features in Prader-Willi syndrome (PWS): consensus paper from the International PWS Clinical Trial Consortium.J Neurodev Disord.2021;13:25. [PMC free article: PMC8215770] [PubMed: 34148559]
StagiS, LapiE, PantaleoM, ChiarelliF, SeminaraS, de MartinoM.Type II diabetes and impaired glucose tolerance due to severe hyperinsulinism in patients with 1p36 deletion syndrome and a Prader-Willi-like phenotype.BMC Med Genet.2014;15:16. [PMC free article: PMC3916307] [PubMed: 24479866]
StelzerY, SagiI, YanukaO, EigesR, BenvenistyN.The noncoding RNA IPW regulates the imprinted DLK1-DIO3 locus in an induced pluripotent stem cell model of Prader-Willi syndrome.Nat Genet.2014;46:551-7. [PubMed: 24816254]
SuarezP, BaumerK, HallD. Further insight into the global variability of the OCA2-HERC2 locus for human pigmentation from multiallelic markers.Sci Rep.2021;11:22530. [PMC free article: PMC8602267] [PubMed: 34795370]
Takesh*taE, MurakamiM.SakutaR, NagaiT.Evaluating the frequency and characteristics of seizures in 142 Japanese patients with Prader-Willi syndrome.Am J Med Genet A.2013;161A:2052-5. [PubMed: 23824702]
TanQ, PotterKJ, BurnettLC, OrssoCE, InmanM, RymanDC, HaqqAM. Prader-Willi-like phenotype caused by an atypical 15q11.2 microdeletion.Genes (Basel). 2020;11:128. [PMC free article: PMC7073628] [PubMed: 31991769]
TauberM, HoybyeC.Endocrine disorders in Prader-Willi syndrome: a model to understand and treat hypothalamic dysfunction.Lancet Diabetes Endocrinol.2021;9:235-46. [PubMed: 33647242]
TriznoAA, JonesAS, CarryPM, GeorgopoulosG. The prevalence and treatment of hip dysplasia in Prader-Willi syndrome (PWS).J Pediatr Orthop.2018;38:e151-e156. [PubMed: 29309382]
TsuyusakiY, YoshihashiH, FuruyaN, AdachiM, OsakaH, YamamotoK, KurosawaK.1p36 deletion syndrome associated with Prader-Willi-like phenotype.Pediatr Int.2010;52:547-50. [PubMed: 20113418]
WeyE, BartholdiD, RiegelM, NazlicanH, HorsthemkeB, SchinzelA, BaumerA. Mosaic imprinting defect in a patient with an almost typical expression of the Prader-Willi syndrome.Eur J Hum Genet.2005;13:273-7. [PubMed: 15578038]
WhittingtonJ, HollandA. Cognition in people with Prader-Willi syndrome: insights into genetic influences on cognitive and social development.Neurosci Biobehav Rev.2017;72:153-67. [PubMed: 27836461]
WhittingtonJE, HollandAJ, WebbT. Ageing in people with Prader-Willi syndrome: mortality in the UK population cohort and morbidity in an older sample of adults.Psychol Med.2015;45:615-21. [PubMed: 25088280]
YangL, ZhanGD, DingJJ, WangHJ, MaD, HuangGY, ZhouWH. Psychiatric illness and intellectual disability in the Prader-Willi syndrome with different molecular defects—a meta analysis.PLoS One.2013;8:e72640 [PMC free article: PMC3743792] [PubMed: 23967326]
