Works matching DE "PRADER-Willi syndrome"

Results: 1262

Enhanced appetitive learning and reversal learning in a mouse model for Prader-Willi syndrome.

Published in:

2012

By:

Relkovic, Dinko;
Humby, Trevor;
Hagan, Jim J.;
Wilkinson, Lawrence S.;
Isles, Anthony R.

Publication type:

Journal Article

Social/economic costs and health-related quality of life in patients with Prader-Willi syndrome in Europe.

Published in:

2016

By:

López-Bastida, Julio;
Linertová, Renata;
Oliva-Moreno, Juan;
Posada-de-la-Paz, Manuel;
Serrano-Aguilar, Pedro;
Kanavos, Panos;
Taruscio, Domenica;
Schieppati, Arrigo;
Iskrov, Georgi;
Baji, Petra;
Delgado, Claudia;
Schulenburg, Johann;
Persson, Ulf;
Chevreul, Karine;
Fattore, Giovanni;
von der Schulenburg, Johann Matthias Graf;
BURQOL-RD Research Network

Publication type:

journal article

A Novel Mutation Associated with Severe Centronuclear Myopathy in a Neonate.

Published in:

2024

By:

Gangadaran, Prabakaran;
Choudhary, Sushil

Publication type:

Letter

Developing a Task Switching Training Game for Children With a Rare Genetic Syndrome Linked to Intellectual Disability.

Published in:

Simulation & Gaming, 2019, v. 50, n. 2, p. 160, doi. 10.1177/1046878119834319

By:

Robb, Nigel;
Waller, Annalu;
Woodcock, Kate A.

Publication type:

Article

Uniparental disomy (UPD) exclusion in embryos following Preimplantation Genetic Testing for Structural Rearrangements (PGT-SR).

Published in:

Journal of Assisted Reproduction & Genetics, 2025, v. 42, n. 1, p. 265, doi. 10.1007/s10815-024-03352-x

By:

Fabiani, Marco;
Margiotti, Katia;
Libotte, Francesco;
Alì, Chiara;
Zangheri, Costanza;
Barone, Maria Antonietta;
Viola, Antonella;
Cima, Antonella;
Buonomo, Giovanna;
Cristofano, Danilo;
Lippa, Assunta;
Pasquale, Chiara;
Montanino Oliva, Mario;
Mesoraca, Alvaro;
Giorlandino, Claudio

Publication type:

Article

Role of DNA methylation in imprinting disorders: an updated review.

Published in:

Journal of Assisted Reproduction & Genetics, 2017, v. 34, n. 5, p. 549, doi. 10.1007/s10815-017-0895-5

By:

Elhamamsy, Amr

Publication type:

Article

Androgen receptor ( AR) gene CAG trinucleotide repeat length associated with body composition measures in non-syndromic obese, non-obese and Prader-Willi syndrome individuals.

Published in:

Journal of Assisted Reproduction & Genetics, 2015, v. 32, n. 6, p. 909, doi. 10.1007/s10815-015-0484-4

By:

Butler, Merlin;
Manzardo, Ann

Publication type:

Article

Is gestation in Prader-Willi syndrome affected by the genetic subtype?

Published in:

Journal of Assisted Reproduction & Genetics, 2009, v. 26, n. 8, p. 461, doi. 10.1007/s10815-009-9341-7

By:

Butler, Merlin G.;
Sturich, Jennifer;
Myers, Susan E.;
Gold, June-Anne;
Kimonis, Virginia;
Driscoll, Daniel J.

Publication type:

Article

From the Editor.

Published in:

2009

By:

Albertini, David F.

Publication type:

Editorial

Research Projects Underway.

Published in:: Palaestra, 2005, v. 21, n. 2, p. 48
Publication type:: Article

Anthropometric adjustments are helpful in the interpretation of BMD and BMC Z-scores of pediatric patients with Prader-Willi syndrome.

Published in:

Osteoporosis International, 2016, v. 27, n. 12, p. 3457, doi. 10.1007/s00198-016-3671-y

By:

Hangartner, T.;
Short, D.;
Eldar-Geva, T.;
Hirsch, H.;
Tiomkin, M.;
Zimran, A.;
Gross-Tsur, V.

Publication type:

Article

Gastric aspiration in sudden unexpected infant death of Prader–Willi syndrome: immunohistochemical detection of feeding components.

Published in:

International Journal of Legal Medicine, 2022, v. 136, n. 6, p. 1883, doi. 10.1007/s00414-022-02883-1

By:

Osawa, Motoki;
Ikeda, Haruka;
Ueda, Atsushi;
Naito, Haruaki;
Nagao, Ryoko;
Kakimoto, Yu

Publication type:

Article

Vocational Guidance and Employment of Persons with a Diagnosis of Prader-Willi Syndrome.

Published in:

Journal of Rehabilitation, 2003, v. 69, n. 1, p. 15

By:

Wadsworth, John S.;
McBrien, Dianne M.;
Harper, Dennis C.

Publication type:

Article

Lateral hypothalamic activity indicates hunger and satiety states in humans.

Published in:

Annals of Clinical & Translational Neurology, 2017, v. 4, n. 12, p. 897, doi. 10.1002/acn3.466

By:

Talakoub, Omid;
Paiva, Raquel R.;
Milosevic, Matija;
Hoexter, Marcelo Q.;
Franco, Ruth;
Alho, Eduardo;
Navarro, Jessie;
Pereira, José F.;
Popovic, Milos R.;
Savage, Cary;
Lopes, Antonio C.;
Alvarenga, Pedro;
Damiani, Durval;
Teixeira, Manoel J.;
Miguel, Euripides C.;
Fonoff, Erich T.;
Batistuzzo, Marcelo C.;
Hamani, Clement

Publication type:

Article

Cardiovascular autonomic dysfunction and sleep abnormalities in children with Prader–Willi syndrome.

Published in:

Clinical Autonomic Research, 2025, v. 35, n. 2, p. 243, doi. 10.1007/s10286-024-01083-8

By:

Debs, Rachel;
Diene, Gwenaëlle;
Cortadellas, Julie;
Molinas, Catherine;
Kermorgant, Marc;
Tauber, Maïthé;
Pavy Le Traon, Anne

Publication type:

Article

Autonomic nervous system dysfunction in Prader–Willi syndrome.

Published in:

Clinical Autonomic Research, 2023, v. 33, n. 3, p. 281, doi. 10.1007/s10286-022-00909-7

By:

Butler, Merlin G.;
Victor, A. Kaitlyn;
Reiter, Lawrence T.

Publication type:

Article

Apparently rare cases are worth studying because.

Published in:

Clinical Autonomic Research, 2023, v. 33, n. 3, p. 209, doi. 10.1007/s10286-023-00956-8

By:

Weese-Mayer, Debra E.;
Rand, Casey M.

Publication type:

Article

Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD): a collaborative review of the current understanding.

Published in:

Clinical Autonomic Research, 2023, v. 33, n. 3, p. 251, doi. 10.1007/s10286-023-00936-y

By:

Khaytin, Ilya;
Victor, A. Kaitlyn;
Barclay, Sarah F.;
Benson, Leslie A.;
Slattery, Susan M.;
Rand, Casey M.;
Kurek, Kyle C.;
Weese-Mayer, Debra E.

Publication type:

Article

Prevalence of diabetes among children treated with growth hormone in Israel.

Published in:

Diabetic Medicine, 2019, v. 36, n. 10, p. 1276, doi. 10.1111/dme.13910

By:

Lutski, M.;
Zucker, I.;
Zadik, Z.;
Libruder, C.;
Blumenfeld, O.;
Shohat, T.;
Laron, Z.

Publication type:

Article

Cognitive profile in a large french cohort of adults with Prader–Willi syndrome: differences between genotypes.

Published in:

Journal of Intellectual Disability Research, 2010, v. 54, n. 3, p. 204, doi. 10.1111/j.1365-2788.2010.01251.x

By:

Copet, P.;
Jauregi, J.;
Laurier, V.;
Ehlinger, V.;
Arnaud, C.;
Cobo, A.‐M.;
Molinas, C.;
Tauber, M.;
Thuilleaux, D.

Publication type:

Article

A specific pathway can be identified between genetic characteristics and behaviour profiles in Prader–Willi syndrome via cognitive, environmental and physiological mechanisms.

Published in:

Journal of Intellectual Disability Research, 2009, v. 53, n. 6, p. 493, doi. 10.1111/j.1365-2788.2009.01167.x

By:

Woodcock, K. A.;
Oliver, C.;
Humphreys, G. W.

Publication type:

Article

Water intake and risk of hyponatraemia in Prader–Willi syndrome.

Published in:

Journal of Intellectual Disability Research, 2009, v. 53, n. 6, p. 521, doi. 10.1111/j.1365-2788.2009.01169.x

By:

Åkefeldt, A.

Publication type:

Article

The European Prader–Willi Syndrome Clinical Research Database: an aid in the investigation of a rare genetically determined neurodevelopmental disorder.

Published in:

Journal of Intellectual Disability Research, 2009, v. 53, n. 6, p. 538, doi. 10.1111/j.1365-2788.2009.01172.x

By:

Holland, A.;
Whittington, J.;
Cohen, O.;
Curfs, L.;
Delahaye, F.;
Dudley, O.;
Horsthemke, B.;
Lindgren, A.‐C.;
Nourissier, C.;
Sharma, N.;
Vogels, A.

Publication type:

Article

Relationship between the IQ of people with Prader–Willi syndrome and that of their siblings: evidence for imprinted gene effects.

Published in:

Journal of Intellectual Disability Research, 2009, v. 53, n. 5, p. 411, doi. 10.1111/j.1365-2788.2009.01157.x

By:

Whittington, J.;
Holland, A.;
Webb, T.

Publication type:

Article

Associations between repetitive questioning, resistance to change, temper outbursts and anxiety in Prader–Willi and Fragile-X syndromes.

Published in:

Journal of Intellectual Disability Research, 2009, v. 53, n. 3, p. 265, doi. 10.1111/j.1365-2788.2008.01122.x

By:

Woodcock, K.;
Oliver, C.;
Humphreys, G.

Publication type:

Article

Sleep Disordered Breathing in Prader-Willi patients treated with rh GH.

Published in:

Journal of Intellectual Disability Research, 2008, v. 52, n. 10, p. 815, doi. 10.1111/j.1365-2788.2008.01119_14.x

By:

Nespoli, L.;
Verri, A.;
Nosetti, L.;
Salvatoni, A.;
Berini, J.;
Chierici, V.;
Niespolo, A. C.;
Cremante, A.

Publication type:

Article

Hypersomnolence in Prader Willi Syndrome.

Published in:

Journal of Intellectual Disability Research, 2008, v. 52, n. 10, p. 814, doi. 10.1111/j.1365-2788.2008.01119_12.x

By:

Heussler, H.;
Harris, M.;
Cooper, D.;
Dakin, C.;
Suresh, S.;
Williams, G.

Publication type:

Article

The Paradox of Prader Willi Syndrome: A genetic model of starvation.

Published in:

Journal of Intellectual Disability Research, 2008, v. 52, n. 10, p. 811, doi. 10.1111/j.1365-2788.2008.01118_5.x

By:

Holland, A. J.

Publication type:

Article

The relationship between a deficit in attention switching and specific behaviours in Prader-Willi syndrome.

Published in:

Journal of Intellectual Disability Research, 2008, v. 52, n. 10, p. 812, doi. 10.1111/j.1365-2788.2008.01119_1.x

By:

Woodcock, K. A.;
Oliver, C.;
Humphreys, G. W.

Publication type:

Article

Developmental aspects of sleep in Prader Willi Syndrome.

Published in:

Journal of Intellectual Disability Research, 2008, v. 52, n. 10, p. 815, doi. 10.1111/j.1365-2788.2008.01119_13.x

By:

Heussler, H.;
Suresh, S.;
Harris, M.;
Cooper, D.;
Dakin, C.;
Williams, G.;
Wilson, S.

Publication type:

Article

Abnormal protein glycoforms in Prader-Willi syndrome.

Published in:

Journal of Intellectual Disability Research, 2008, v. 52, n. 10, p. 812, doi. 10.1111/j.1365-2788.2008.01119_2.x

By:

Bowling, F. G.;
Munce, T. B.

Publication type:

Article

‘Hungry Eyes’: visual processing of food images in adults with Prader-Willi syndrome.

Published in:

Journal of Intellectual Disability Research, 2008, v. 52, n. 6, p. 536, doi. 10.1111/j.1365-2788.2008.01062.x

By:

Key, A. P. F.;
Dykens, E. M.

Publication type:

Article

Cross-cultural comparisons of obesity and growth in Prader–Willi syndrome.

Published in:

Journal of Intellectual Disability Research, 2008, v. 52, n. 5, p. 426, doi. 10.1111/j.1365-2788.2008.01044.x

By:

Dudley, O.;
McManus, B.;
Vogels, A.;
Whittington, J.;
Muscatelli, F.

Publication type:

Article

Poster Presentations.

Published in:: 2007
Publication type:: Abstract

The relationship between compulsive behaviour and academic achievement across the three genetic subtypes of Prader–Willi syndrome.

Published in:

Journal of Intellectual Disability Research, 2007, v. 51, n. 6, p. 478, doi. 10.1111/j.1365-2788.2006.00916.x

By:

Zarcone, J.;
Napolitano, D.;
Peterson, C.;
Breidbord, J.;
Ferraioli, S.;
Caruso‐Anderson, M.;
Holsen, L.;
Butler, M. G.;
Thompson, T.

Publication type:

Article

A neuropsychological assessment of frontal cognitive functions in Prader–Willi syndrome.

Published in:

Journal of Intellectual Disability Research, 2007, v. 51, n. 5, p. 350, doi. 10.1111/j.1365-2788.2006.00883.x

By:

Jauregi, J.;
Arias, C.;
Vegas, O.;
Alén, F.;
Martinez, S.;
Copet, P.;
Thuilleaux, D.

Publication type:

Article

Quality of life and psychological well-being in GH-treated, adult PWS patients: a longitudinal study.

Published in:

Journal of Intellectual Disability Research, 2007, v. 51, n. 4, p. 302, doi. 10.1111/j.1365-2788.2006.00878.x

By:

Bertella, L.;
Mori, I.;
Grugni, G.;
Pignatti, R.;
Ceriani, F.;
Molinari, E.;
Ceccarelli, A.;
Sartorio, A.;
Vettor, R.;
Semenza, C.

Publication type:

Article

The course and outcome of psychiatric illness in people with Prader–Willi syndrome: implications for management and treatment.

Published in:

Journal of Intellectual Disability Research, 2007, v. 51, n. 1, p. 32, doi. 10.1111/j.1365-2788.2006.00895.x

By:

Soni, S.;
Whittington, J.;
Holland, A. J.;
Webb, T.;
Maina, E.;
Boer, H.;
Clarke, D.

Publication type:

Article

An investigation into food preferences and the neural basis of food-related incentive motivation in Prader–Willi syndrome.

Published in:

Journal of Intellectual Disability Research, 2006, v. 50, n. 9, p. 633, doi. 10.1111/j.1365-2788.2006.00812.x

By:

Hinton, E. C.;
Holland, A. J.;
Gellatly, M. S. N.;
Soni, S.;
Owen, A. M.

Publication type:

Article

Modes of imprinted gene action in learning disability.

Published in:

Journal of Intellectual Disability Research, 2006, v. 50, n. 5, p. 318, doi. 10.1111/j.1365-2788.2006.00843.x

By:

Isles, A. R.;
Humby, T.

Publication type:

Article

Repetitive and ritualistic behaviour in children with Prader–Willi syndrome and children with autism.

Published in:

Journal of Intellectual Disability Research, 2006, v. 50, n. 2, p. 92, doi. 10.1111/j.1365-2788.2005.00726.x

By:

Greaves, N.;
Prince, E.;
Evans, D. W.;
Charman, T.

Publication type:

Article

A measure of food seeking in individuals with Prader–Willi syndrome.

Published in:

Journal of Intellectual Disability Research, 2006, v. 50, n. 1, p. 18, doi. 10.1111/j.1365-2788.2005.00724.x

By:

Young, J.;
Zarcone, J.;
Holsen, L.;
Anderson, M. C.;
Hall, S.;
Richman, D.;
Butler, M. G.;
Thompson, T.

Publication type:

Article

A long-term population-based clinical and morbidity review of Prader–Willi syndrome in Western Australia.

Published in:

Journal of Intellectual Disability Research, 2006, v. 50, n. 1, p. 69, doi. 10.1111/j.1365-2788.2005.00770.x

By:

Thomson, A. K.;
Glasson, E. J.;
Bittles, A. H.

Publication type:

Article

Children with Prader–Willi syndrome vs. Williams syndrome: indirect effects on parents during a jigsaw puzzle task.

Published in:

Journal of Intellectual Disability Research, 2005, v. 49, n. 12, p. 929, doi. 10.1111/j.1365-2788.2005.00782.x

By:

Ly, T. M.;
Hodapp, R. M.

Publication type:

Article

An investigation of executive function abilities in adults with Prader–Willi syndrome.

Published in:

Journal of Intellectual Disability Research, 2005, v. 49, n. 8, p. 613, doi. 10.1111/j.1365-2788.2005.00717.x

By:

Walley, R. M.;
Donaldson, M. D. C.

Publication type:

Article

Prader–Willi Syndrome: Development and Manifestations.

Published in:

2005

By:

Hemmings, Colin

Publication type:

Book Review

ADHD symptoms and insistence on sameness in Prader-Willi syndrome.

Published in:

Journal of Intellectual Disability Research, 2005, v. 49, n. 6, p. 449, doi. 10.1111/j.1365-2788.2005.00690.x

By:

Wigren, M.;
Hansen, S.

Publication type:

Article

Cognitive, emotional, physical and social effects of growth hormone treatment in adults with Prader–Willi syndrome.

Published in:

Journal of Intellectual Disability Research, 2005, v. 49, n. 4, p. 245, doi. 10.1111/j.1365-2788.2005.00641.x

By:

Höybye, C.;
Thorén, M.;
Böhm, B.

Publication type:

Article

Academic underachievement by people with Prader–Willi syndrome.

Published in:

Journal of Intellectual Disability Research, 2004, v. 48, n. 2, p. 188, doi. 10.1111/j.1365-2788.2004.00473.x

By:

Whittington, J.;
Holland, A.;
Webb, T.;
Butler, J.;
Clarke, D.;
Boer, H.

Publication type:

Article

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

Published in:

Journal of Intellectual Disability Research, 2004, v. 48, n. 2, p. 172, doi. 10.1111/j.1365-2788.2004.00556.x

By:

Whittington, J.;
Holland, A.;
Webb, T.;
Butler, J.;
Clarke, D.;
Boer, H.

Publication type:

Article