Works matching DE "PRADER-Willi syndrome"

Results: 1260

Association of ring chromosome 18 and Prader-Willi syndrome: the first described case report.

Published in:

Pediatric Endocrinology, Diabetes & Metabolism, 2025, v. 31, n. 1, p. 35, doi. 10.5114/pedm.2025.148399

By:

Laalaoua, Yousra;
Bentebbaa, Fatimzahra;
Assarrar, Imane;
Bouichrat, Nisrine;
Rouf, Siham;
Latrech, Hanane

Publication type:

Article

Anesthesia and Prader–Willi syndrome: preliminary experience with regional anesthesia.

Published in:

Pediatric Anesthesia, 2006, v. 16, n. 7, p. 712, doi. 10.1111/j.1460-9592.2006.01968.x

By:

Legrand, Ryan;
Tobias, Joseph D.

Publication type:

Article

Near demise of a child with Prader–Willi syndrome during elective orchidopexy.

Published in:

Pediatric Anesthesia, 2006, v. 16, n. 7, p. 790, doi. 10.1111/j.1460-9592.2006.01990.x

By:

Mantadakis, Elpis;
Spanaki, Anna-Maria;
Geromarkaki, Elsa;
Vassilaki, Efrosini;
Briassoulis, George

Publication type:

Article

Jane: A Victim of Prader-Willi Syndrome and the System.

Published in:

Social Work, 1990, v. 35, n. 3, p. 279

By:

Aguilar, Gloria Duran

Publication type:

Article

Evolution of Genomic Imprinting with Biparental Care: Implications for Prader-Willi and Angelman Syndromes.

Published in:

PLoS Biology, 2008, v. 6, n. 8, p. e208, doi. 10.1371/journal.pbio.0060208

By:

Úbeda, Francisco

Publication type:

Article

Hypocretin-1 levels in Angelman syndrome.

Published in:

Sleep & Biological Rhythms, 2006, v. 4, n. 2, p. 183, doi. 10.1111/j.1479-8425.2006.00215.x

By:

Miyata, Rie;
Hasegawa, Takeshi;
Shimohira, Masayuki;
Kohyama, Jun;
Kanbayashi, Takashi

Publication type:

Article

Amygdala hyperactivation relates to eating behaviour: a potential indicator of food addiction in Prader-Willi syndrome.

Published in:

Brain Communications, 2023, v. 5, n. 3, p. 1, doi. 10.1093/braincomms/fcad138

By:

Strelnikov, Kuzma;
Debladis, Jimmy;
Salles, Juliette;
Valette, Marion;
Cortadellas, Julie;
Taube, Maithé;
Barone, Pascal

Publication type:

Article

In vivo neuroimaging evidence of hypothalamic alteration in Prader-Willi syndrome.

Published in:

Brain Communications, 2022, v. 4, n. 5, p. 1, doi. 10.1093/braincomms/fcac229

By:

Brown, Stephanie S. G.;
Manning, Katherine E.;
Fletcher, Paul;
Holland, Anthony

Publication type:

Article

"Unable to Feed My Hungry Child" : Experiences of Mothers Caring for Children With Prader-Willi Syndrome.

Published in:

Global Qualitative Nursing Research, 2024, p. 1, doi. 10.1177/23333936241242929

By:

Currie, Genevieve;
Estefan, Andrew;
Caine, Vera

Publication type:

Article

An Adult with Prader-Willi Syndrome and Anorexia Nervosa: A Case Report.

Published in:

International Journal of Eating Disorders, 2001, v. 30, n. 2, p. 231, doi. 10.1002/eat.1079

By:

Counts, Debra

Publication type:

Article

Aggravation of Food-Related Behavior in an Adolescent with Prader-Willi Syndrome Treated with Fluvoxamine and Fluoxetine.

Published in:

International Journal of Eating Disorders, 2001, v. 30, n. 1, p. 113, doi. 10.1002/eat.1062

By:

Kohn, Yoav;
Weizman, Abraham;
Apter, Alan

Publication type:

Article

Weight Management of Youth with Prader-Willi Syndrome.

Published in:

International Journal of Eating Disorders, 1987, v. 6, n. 3, p. 419, doi. 10.1002/1098-108X(198705)6:3<419::AID-EAT2260060312>3.0.CO;2-I

By:

Mullins, June B.;
Vogl-Maier, Beate

Publication type:

Article

Evaluation of immunological abnormalities in patients with rare syndromes.

Published in:

Central European Journal of Immunology, 2022, v. 47, n. 4, p. 299, doi. 10.5114/ceji.2022.124080

By:

GUL, YAHYA;
KAPAKLI, HASAN;
AYTEKIN, SELMA EROL;
GUNER, ŞUKRU NAIL;
KELES, SEVGI;
GÜL ZAMANI, AYŞE;
YILDIRIM, MAHMUT SELMAN;
REISLI, ÏSMAIL

Publication type:

Article

Do microdeletions lead to immune deficiency?

Published in:

Central European Journal of Immunology, 2020, v. 45, n. 1, p. 69, doi. 10.5114/ceji.2020.94671

By:

KARAMAN, SAIT;
HAZAN, FILIZ;
ERDEM, SEMIHA BAHÇECI;
GÜLEZ, NESRIN;
GENEL, FERAH

Publication type:

Article

Epigenetics and Bruxism: Possible Role of Epigenetics in the Etiology of Bruxism.

Published in:

2015

By:

Čalić, Aleksandra;
Peterlin, Borut

Publication type:

journal article

Atypical presentation of Angelman syndrome with intact expressive language due to low‐level mosaicism.

Published in:

2022

By:

Punatar, Ruchi;
Egense, Alena;
Mao, Rong;
Procter, Melinda;
Bosworth, Michelle;
Quigley, Denise I.;
Angkustsiri, Kathleen;
Shankar, Suma P.

Publication type:

Case Study

Longitudinal analysis of electroencephalography pattern changes in an infant with Schaaf‐Yang syndrome and a novel mutation in melanoma antigen L2 (MAGEL2).

Published in:

2022

By:

Mizuno, Shinsuke;
Yokoyama, Koji;
Yokoyama, Atsushi;
Nukata, Takayuki;
Ikeda, Yuka;
Hara, Shigeto

Publication type:

Case Study

A report on seven fetal cases associated with 15q11‐q13 microdeletion and microduplication.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 3, p. 1, doi. 10.1002/mgg3.1605

By:

Huang, Xiuzhu;
Chen, Jieping;
Hu, Wenlong;
Li, Lu;
He, Huiyan;
Guo, Hui;
Liao, Qiuyan;
Ye, Mei;
Tang, Donge;
Dai, Yong

Publication type:

Article

Microbiota profile and efficacy of probiotic supplementation on laxation in adults affected by Prader‐Willi Syndrome: A randomized, double‐blind, crossover trial.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 12, p. 1, doi. 10.1002/mgg3.1535

By:

Alyousif, Zainab;
Miller, Jennifer L.;
Auger, Jeremie;
Sandoval, Mariana;
Piano, Amanda;
Tompkins, Thomas A.;
Dahl, Wendy J.

Publication type:

Article

Prenatal diagnosis of Prader‐Willi syndrome due to uniparental disomy with NIPS: Case report and literature review.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 10, p. 1, doi. 10.1002/mgg3.1448

By:

Shubina, Jekaterina;
Barkov, Ilya Y.;
Stupko, Olga K.;
Kuznetsova, Maria V.;
Goltsov, Andrey Y.;
Kochetkova, Taisya O.;
Trofimov, Dmitry Y.;
Sukhikh, Gennady T.

Publication type:

Article

Prenatal diagnosis of BACs‐on‐Beads assay in 1520 cases from Fujian Province, China.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 10, p. 1, doi. 10.1002/mgg3.1446

By:

Wang, Yan;
Zhang, Min;
Chen, Lingji;
Huang, Hailong;
Xu, Liangpu

Publication type:

Article

Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein–Taybi Syndrome kids with high frequency of polydactyly.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 12, p. N.PAG, doi. 10.1002/mgg3.1009

By:

Yu, Sha;
Wu, Bingbing;
Qian, Yanyan;
Zhang, Ping;
Lu, Yulan;
Dong, Xinran;
Wang, Qing;
Zhao, Xuemei;
Liu, Renchao;
Zhou, Wenhao;
Wang, Huijun

Publication type:

Article

Analysis of the Prader–Willi syndrome imprinting center using droplet digital PCR and next‐generation whole‐exome sequencing.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 4, p. N.PAG, doi. 10.1002/mgg3.575

By:

Hartin, Samantha N.;
Hossain, Waheeda A.;
Francis, David;
Godler, David E.;
Barkataki, Sangjucta;
Butler, Merlin G.

Publication type:

Article

A multidisciplinary approach to the clinical management of Prader–Willi syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 3, p. N.PAG, doi. 10.1002/mgg3.514

By:

Duis, Jessica;
van Wattum, Pieter J.;
Scheimann, Ann;
Salehi, Parisa;
Brokamp, Elly;
Fairbrother, Laura;
Childers, Anna;
Shelton, Althea Robinson;
Bingham, Nathan C.;
Shoemaker, Ashley H.;
Miller, Jennifer L.

Publication type:

Article

Incomplete methylation of a germ cell tumor (Seminoma) in a Prader‐Willi male.

Published in:

Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 5, p. 811, doi. 10.1002/mgg3.448

By:

Eldar‐Geva, Talia;
Gross‐Tsur, Varda;
Hirsch, Harry J.;
Altarescu, Gheona;
Segal, Reeval;
Zeligson, Sharon;
Golomb, Eliahu;
Epsztejn‐Litman, Silvina;
Eiges, Rachel

Publication type:

Article

LETTERS TO THE EDITOR.

Published in:

1998

By:

Schepis, Carmelo;
Failla, Pinella;
Siragusa, Maddalena;
Palazzo, Rosaria;
Romano, Corrado;
DerKinderen, Daan J.;
Gaspar, Zoran;
Sehgal, Virendra N.;
Jain, Sanjeev;
Kumar, Sunil;
Bhattacharya, Samit N.;
Singh, Navjeevan

Publication type:

Letter

Analysis of Hyperphagia Questionnaire for Clinical Trials (HQ-CT) scores in typically developing individuals and those with Prader-Willi syndrome.

Published in:

Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-48024-5

By:

Matesevac, Lisa;
Vrana-Diaz, Caroline J.;
Bohonowych, Jessica E.;
Schwartz, Lauren;
Strong, Theresa V.

Publication type:

Article

Defects in early synaptic formation and neuronal function in Prader-Willi syndrome.

Published in:

Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-39065-x

By:

Soeda, Shuhei;
Ito, Daiki;
Ogushi, Tomoe;
Sano, Yui;
Negoro, Ryosuke;
Fujita, Takuya;
Saito, Ryo;
Taniura, Hideo

Publication type:

Article

Poster abstracts: P40: FETAL FACE AND THORAX.

Published in:: 2007
Publication type:: Abstract

Obstetric aspects of the Prader—Willi syndrome.

Published in:

Ultrasound in Obstetrics & Gynecology, 2003, v. 21, n. 4, p. 389, doi. 10.1002/uog.90

By:

Fong, B.F.;
De Vries, J.I.P.

Publication type:

Article

Syndromes and Genetics.

Published in:: 2021
Publication type:: Abstract

Salivary flow rate and oral findings in Prader-Willi syndrome: a case-control study.

Published in:

International Journal of Paediatric Dentistry, 2012, v. 22, n. 1, p. 27, doi. 10.1111/j.1365-263X.2011.01153.x

By:

SAEVES, RONNAUG;
NORDGARDEN, HILDE;
STORHAUG, KARI;
SANDVIK, LEIV;
ESPELID, IVAR

Publication type:

Article

Treatment of a Prader-Willi Patient with Recurrent Catatonia.

Published in:

Case Reports in Psychiatry, 2015, v. 2015, p. 1, doi. 10.1155/2015/697428

By:

Poser, Hana M.;
Trutia, Alexandru E.

Publication type:

Article

An Atypical 15q11.2 Microdeletion Not Involving SNORD116 Resulting in Prader–Willi Syndrome.

Published in:

2023

By:

Crenshaw, Molly M.;
Graw, Sharon L.;
Slavov, Dobromir;
Boyle, Theresa A.;
Piqué, Daniel G.;
Taylor, Matthew;
Baker II, Peter

Publication type:

Case Study

Exploring Patterns of Unwanted Behaviours in Adults with Prader- Willi Syndrome.

Published in:

Journal of Applied Research in Intellectual Disabilities, 2013, v. 26, n. 6, p. 568, doi. 10.1111/jar.12047

By:

Pignatti, Riccardo;
Mori, Ileana;
Bertella, Laura;
Grugni, Graziano;
Giardino, Daniela;
Molinari, Enrico

Publication type:

Article

Assessment of Executive Functions in Prader- Willi Syndrome and Relationship with Intellectual Level.

Published in:

Journal of Applied Research in Intellectual Disabilities, 2013, v. 26, n. 4, p. 309, doi. 10.1111/jar.12044

By:

Chevalère, J.;
Postal, V.;
Jauregui, J.;
Copet, P.;
Laurier, V.;
Thuilleaux, D.

Publication type:

Article

Update on Clinical Features and Brain Abnormalities in Neurogenetics Syndromes.

Published in:

Journal of Applied Research in Intellectual Disabilities, 2011, v. 24, n. 3, p. 217, doi. 10.1111/j.1468-3148.2010.00603.x

By:

Jackowski, Andrea Parolin;
Laureano, Maura Regina;
Del'Aquilla, Marco Antônio;
de Moura, Luciana Monteiro;
Assunção, Idaiane;
Silva, Ivaldo;
Schwartzman, José Salomão

Publication type:

Article

Biological and bio-behavioural.

Published in:: Journal of Applied Research in Intellectual Disabilities, 2010, v. 23, n. 5, p. 419, doi. 10.1111/j.1468-3148.2010.00581.x
Publication type:: Article

The Relationship between Components of the Behavioural Phenotype in Prader-Willi Syndrome.

Published in:

Journal of Applied Research in Intellectual Disabilities, 2009, v. 22, n. 4, p. 403, doi. 10.1111/j.1468-3148.2008.00475.x

By:

Oliver, Chris;
Woodcock, Kate A.;
Humphreys, Glyn W.

Publication type:

Article

Skin-Picking in Individuals with Prader-Willi Syndrome: Prevalence, Functional Assessment, and its Comorbidity with Compulsive and Self-Injurious Behaviours.

Published in:

Journal of Applied Research in Intellectual Disabilities, 2007, v. 20, n. 5, p. 409, doi. 10.1111/j.1468-3148.2007.00388.x

By:

Didden, Robert;
Korzilius, Hubert;
Curfs, Leopold M. G.

Publication type:

Article

Perfil comportamental de crianças e adolescentes com síndrome de Prader-Willi e obesidade exógena.

Published in:

Psicologia: Teoria e Prática, 2009, v. 11, n. 1, p. 167

By:

Garzuzi, Yara;
Carreiro, Luiz Renato Rodrigues;
Schwartzman, José Salomão;
de Mesquita, Maria Luiza Guedes;
Palma, Domingos;
Lopez, Fábio Ancona;
de Moraes, Denise Ely Bellotto;
de Macedo, Elizeu Coutinho;
Teixeira, Maria Cristina Triguero Veloz

Publication type:

Article

Analysis of DEXI/Dexi refines the organization of the mouse 7C and human 15q11→q13 imprinting clusters.

Published in:

Cytogenetics & Cell Genetics, 2001, v. 92, n. 1/2, p. 149, doi. 10.1159/000056887

By:

Kelly, M.;
Edgar, A. J.;
Wevrick, R.

Publication type:

Article

The human gene for the poly(A)-specific ribonuclease (PARN) maps to 16p13 and has a truncated copy in the Prader-Willi/Angelman syndrome region on 15q11→q13.

Published in:

Cytogenetics & Cell Genetics, 1999, v. 87, n. 1/2, p. 125, doi. 10.1159/000015378

By:

Buiting, K.;
Körner, C.;
Ulrich, B.;
Wahle, E.;
Horsthemke, B.

Publication type:

Article

Expressed copies of the MN7 (D15F37) gene family map close to the common deletion breakpoints in the Prader-Willi/Angelman syndromes.

Published in:

Cytogenetics & Cell Genetics, 1998, v. 81, n. 3/4, p. 247, doi. 10.1159/000015039

By:

Buiting, K.;
Groβ, S.;
Ji, Y.;
Senger, G.;
Nicholls, R. D.;
Horsthemke, B.

Publication type:

Article

Early psychomotor development and growth hormone therapy in children with Prader-Willi syndrome: a review.

Published in:

European Journal of Pediatrics, 2024, v. 183, n. 3, p. 1021, doi. 10.1007/s00431-023-05327-z

By:

Jin, Yu-Yu;
Luo, Fei-Hong

Publication type:

Article

Computer-aided facial analysis as a tool to identify patients with Silver–Russell syndrome and Prader–Willi syndrome.

Published in:

European Journal of Pediatrics, 2023, v. 182, n. 6, p. 2607, doi. 10.1007/s00431-023-04937-x

By:

Ciancia, Silvia;
Goedegebuure, Wesley J.;
Grootjen, Lionne N.;
Hokken-Koelega, Anita C. S.;
Kerkhof, Gerthe F.;
van der Kaay, Daniëlle C. M.

Publication type:

Article

Severe obstructive sleep disorders in Prader-Willi syndrome patients in southern Italy.

Published in:

2018

By:

Canora, Angelo;
Bocchino, Marialuisa;
Sanduzzi, Alessandro;
Franzese, Adriana;
Mozzillo, Enza;
Fattorusso, Valentina

Publication type:

journal article

Considering behavioral interventions for comorbid psychiatric problems in Prader-Willi Syndrome: response to Bonnot et al.

Published in:

2016

By:

Storch, Eric;
Storch, Eric A

Publication type:

commentary

Psychotropic treatments in Prader-Willi syndrome: a critical review of published literature.

Published in:

2016

By:

Bonnot, O.;
Cohen, D.;
Thuilleaux, D.;
Consoli, A.;
Cabal, S.;
Tauber, M.

Publication type:

journal article

Clinical and genetic features of Prader-Willi syndrome in China.

Published in:

European Journal of Pediatrics, 2014, v. 173, n. 1, p. 81, doi. 10.1007/s00431-013-2124-2

By:

Lu, Wei;
Qi, Yan;
Cui, Bing;
Chen, Xiu-Li;
Wu, Bing-Bing;
Chen, Chao;
Cao, Yun;
Zhou, Wen-Hao;
Xu, Hong;
Luo, Fei-Hong

Publication type:

Article