Works matching DE "PRADER-Willi syndrome"

Results: 1234

Analysis of Circulating Mediators of Bone Remodeling in Prader-Willi Syndrome.

Published in:

2018

By:

Brunetti, G.;
Grugni, G.;
Piacente, L.;
Delvecchio, M.;
Ventura, A.;
Giordano, P.;
Grano, M.;
D’Amato, G.;
Laforgia, D.;
Crinò, A.;
Faienza, M. F.;
D'Amato, G

Publication type:

journal article

Adults with Prader-Willi Syndrome have Weaker Bones: Effect of Treatment with GH and Sex Steroids.

Published in:

Calcified Tissue International, 2015, v. 96, n. 2, p. 160, doi. 10.1007/s00223-014-9949-1

By:

Longhi, Silvia;
Grugni, Graziano;
Gatti, Davide;
Spinozzi, Emiliano;
Sartorio, Alessandro;
Adami, Silvano;
Fanolla, Antonio;
Radetti, Giorgio

Publication type:

Article

P-70 Angelman syndrome associated with congenital hypothyroidism and corticotropic insufficiency.

Published in:

JCEM Case Reports, 2024, v. 2, p. 1, doi. 10.1210/jcemcr/luad146.066

By:

Amine Amani, Mohammed El

Publication type:

Article

O-16 Never too late: Delayed diagnosis of Prader-Willi syndrome.

Published in:

JCEM Case Reports, 2024, v. 2, p. 1, doi. 10.1210/jcemcr/luad146.045

By:

Baş Aksu, Özge;
Canpolat, Asena Gökçay;
Leblebici, Can Berk;
Karabulut, Halil Gürhan;
Çorapçıoğlu, Demet

Publication type:

Article

Behavioral Changes in Patients With Prader-Willi Syndrome Can Mask Severe Physical Illness.

Published in:

JCEM Case Reports, 2023, v. 1, n. 1, p. 1, doi. 10.1210/jcemcr/luac034

By:

Van Loo, Liselotte;
Vogels, Annick;
Rochtus, Anne

Publication type:

Article

ALTERAÇÕES GENÉTICAS COMUNS NA DEFICIÊNCIA INTELECTUAL E DOENÇAS METABÓLICAS: REVISÃO SISTEMÁTICA.

Published in:

Revista Foco (Interdisciplinary Studies Journal), 2023, v. 16, n. 9, p. 1, doi. 10.54751/revistafoco.v16n9-130

By:

de Almeida Santana, Natan Augusto;
Machado Ribeiro Pimentel, Ana Luiza;
Labre Cavalcante, Lara;
Carneiro Rizzatti, Maria Eduarda;
Marques Gonçalves, Pedro Afonso;
Morais Vilela, Milena;
Moraes Landim, Gregor;
Oliveira Moraes, Victor Hugo

Publication type:

Article

Psychopathology and treatment of Prader-Willi syndrome in adulthood: About a clinical case.

Published in:

European Psychiatry, 2021, v. 64, p. S723, doi. 10.1192/j.eurpsy.2021.1914

By:

Martinez, G. M. Ruiz;
Dafonte, A. Alvarado;
Rodriguez, L. Soldado

Publication type:

Article

1167 – Prader-willi syndrome psychobehavioral profile in a clinic based sample.

Published in:

2013

By:

Ali, D.H.;
Effat, S.;
Afifi, H.

Publication type:

Abstract

P03-01 - Behavioral treatment of obsessive-compulsive symptoms in youth with Prader-Willi Syndrome: results from a pilot study

Published in:

2010

By:

Storch, E.

Publication type:

Abstract

Duplication 15q14 → pter: a rare chromosomal abnormality underlying bipolar affective disorder

Published in:

European Psychiatry, 2004, v. 19, n. 3, p. 179, doi. 10.1016/j.eurpsy.2004.03.001

By:

Reif, Andreas;
Kress, Wolfgang;
Wurm, Karl;
Benninghoff, Jens;
Pfuhlmann, Bruno;
Lesch, Klaus-Peter

Publication type:

Article

Prader-Willi Syndrome and PCSK1 mutation: a novel presentation of combined syndromic and monogenic obesity.

Published in:

European Review for Medical & Pharmacological Sciences, 2022, v. 26, n. 7, p. 2437

By:

KOSTOPOULOU, E.;
SPILIOTI, D. X.;
PANTZARIS, N. D.;
SPILIOTIS, B. E.

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

EEG Patterns in Patients with Prader–Willi Syndrome.

Published in:

Brain Sciences (2076-3425), 2021, v. 11, n. 8, p. 1045, doi. 10.3390/brainsci11081045

By:

Elia, Maurizio;
Rutigliano, Irene;
Sacco, Michele;
Madeo, Simona F.;
Wasniewska, Malgorzata;
Li Pomi, Alessandra;
Trifirò, Giuliana;
Di Bella, Paolo;
De Lucia, Silvana;
Vetri, Luigi;
Iughetti, Lorenzo;
Delvecchio, Maurizio

Publication type:

Article

Effects of Transcranial Direct Current Stimulation (tDCS) on Go/NoGo Performance Using Food and Non-Food Stimuli in Patients with Prader–Willi Syndrome.

Published in:

Brain Sciences (2076-3425), 2021, v. 11, n. 2, p. 250, doi. 10.3390/brainsci11020250

By:

Poje, Albert B.;
Manzardo, Ann;
Gustafson, Kathleen M.;
Liao, Ke;
Martin, Laura E.;
Butler, Merlin G.;
Hofmann, Ulrich

Publication type:

Article

Family Matters: Trauma and Quality of Life in Family Members of Individuals With Prader-Willi Syndrome.

Published in:

Frontiers in Psychiatry, 2022, v. 13, p. 1, doi. 10.3389/fpsyt.2022.897138

By:

Bos-Roubos, Anja;
Wingbermühle, Ellen;
Biert, Anneloes;
de Graaff, Laura;
Egger, Jos;
Strong, Theresa V.;
Jo Bichell, Terry

Publication type:

Article

The Feasibility and Effectiveness of a Novel, On-Line Social Skills Intervention for Individuals With Prader-Willi Syndrome.

Published in:

Frontiers in Psychiatry, 2022, v. 13, p. 1, doi. 10.3389/fpsyt.2022.863999

By:

Dykens, Elisabeth M.;
Roof, Elizabeth;
Hunt-Hawkins, Haile;
McDonald, Charles

Publication type:

Article

CD16<sup>+</sup> monocytes are involved in the hyper-inflammatory state of Prader-Willi Syndrome by single-cell transcriptomic analysis.

Published in:

Frontiers in Immunology, 2023, p. 1, doi. 10.3389/fimmu.2023.1153730

By:

Yunyun Xu;
Xu Hou;
Honglin Guo;
Zhenyu Yao;
Xiude Fan;
Chao Xu;
Guimei Li;
Yanzhou Wang;
Yan Sun;
Ling Gao;
Yongfeng Song;
Jiajun Zhao

Publication type:

Article

Repetitive transcranial magnetic stimulation: A potential therapeutic option for obesity in a patient with Prader‐Willi syndrome.

Published in:

Diabetes, Obesity & Metabolism, 2022, v. 24, n. 12, p. 2478, doi. 10.1111/dom.14833

By:

Ferrulli, Anna;
Cannavaro, Daniele;
Macrì, Concetta;
Luzi, Livio

Publication type:

Article

Effects of MetAP2 inhibition on hyperphagia and body weight in Prader-Willi syndrome: A randomized, double-blind, placebo-controlled trial.

Published in:

Diabetes, Obesity & Metabolism, 2017, v. 19, n. 12, p. 1751, doi. 10.1111/dom.13021

By:

McCandless, Shawn E.;
Yanovski, Jack A.;
Miller, Jennifer;
Fu, Cary;
Bird, Lynne M.;
Salehi, Parisa;
Chan, Christine L.;
Stafford, Diane;
Abuzzahab, M. Jennifer;
Viskochil, David;
Barlow, Sarah E.;
Angulo, Moris;
Myers, Susan E.;
Whitman, Barbara Y.;
Styne, Dennis;
Roof, Elizabeth;
Dykens, Elisabeth M.;
Scheimann, Ann O.;
Malloy, Jaret;
Zhuang, Dongliang

Publication type:

Article

Autistic spectrum disorder associated with partial duplication of chromosome 15; three case reports.

Published in:

European Child & Adolescent Psychiatry, 2004, v. 13, n. 6, p. 389, doi. 10.1007/s00787-004-0414-y

By:

Simic, Mima;
Turk, Jeremy

Publication type:

Article

Is monoamine oxidase activity elevated in Prader-Willi syndrome?

Published in:

European Child & Adolescent Psychiatry, 1998, v. 7, n. 3, p. 163

By:

Åkefeldt, A.;
Månsson, J.-E.

Publication type:

Article

Three Siblings with Prader-Willi Syndrome: Brief Review of Sleep and Prader-Willi Syndrome.

Published in:

2015

By:

Bingeliene, Arina;
Shapiro, Colin M.;
Chung, Sharon A.

Publication type:

Case Study

Severe Short Stature in an Adolescent Male with Prader-Willi Syndrome and Congenital Adrenal Hyperplasia: A Therapeutic Conundrum.

Published in:

Case Reports in Endocrinology, 2017, p. 1, doi. 10.1155/2017/4271978

By:

Wasserman, Meredith;
Mulvihill, Erin M.;
Ganan-Soto, Angela;
Uysal, Serife;
Quintos, Jose Bernardo

Publication type:

Article

General anesthetic management of Prader-Willi syndrome patient undergoing middle cerebral artery-superficial temporal artery anastomosis.

Published in:

2012

By:

Jin Young Lee;
Kwang Rae Cho;
Myoung Hun Kim;
Kun Moo Lee;
Hyo Joong Kim

Publication type:

Case Study

Experience of severe desaturation during anesthetic induction period in an obese adult patient with Prader-Willi syndrome -A case report-.

Published in:

Korean Journal of Anesthesiology, 2012, v. 62, n. 2, p. 179, doi. 10.4097/kjae.2012.62.2.179

By:

Joon Woo Choi;
Eun-Ju Kim;
Byung Woo Min;
Jong Seouk Ban;
Sang Gon Lee;
Ji-Hyang Lee

Publication type:

Article

Use of a venting PEG tube in the management of recurrent acute gastric dilatation associated with Prader-Willi syndrome.

Published in:

2016

By:

Mohammed, Ahmed M. A.;
Dennis, Robert J.

Publication type:

Case Study

Longitudinal Changes in Acylated versus Unacylated Ghrelin Levels May Be Involved in the Underlying Mechanisms of the Switch in Nutritional Phases in Prader-Willi Syndrome.

Published in:

Hormone Research in Paediatrics, 2024, v. 97, n. 4, p. 343, doi. 10.1159/000534560

By:

Grootjen, Lionne N.;
Diene, Gwenaelle;
Molinas, Catherine;
Beauloye, Véronique;
Huisman, T. Martin;
Visser, Jenny A.;
Delhanty, Patric J.D.;
Kerkhof, Gerthe F.;
Tauber, Maithe;
Hokken-Koelega, Anita C.S.

Publication type:

Article

Schaaf-Yang Syndrome: Clinical Phenotype and Effects of 4 years of Growth Hormone Treatment.

Published in:

Hormone Research in Paediatrics, 2024, v. 97, n. 2, p. 148, doi. 10.1159/000531629

By:

Juriaans, Alicia F.;
Kerkhof, Gerthe F.;
Garrelfs, Mark;
Trueba-Timmermans, Demi;
Hokken-Koelega, Anita C.S.

Publication type:

Article

Gonadal Hormone Substitution in People with Prader-Labhart-Willi Syndrome: An International Prader-Willi Syndrome Organisation Survey.

Published in:

Hormone Research in Paediatrics, 2021, v. 94, n. 5/6, p. 176, doi. 10.1159/000518342

By:

Eiholzer, Urs;
Stephan, Anika;
Fritz, Christiane;
Katschnig, Claudia;
Noordam, Cees

Publication type:

Article

Sleep-Disordered Breathing in Children with Prader-Willi Syndrome in Relation to Growth Hormone Therapy Onset.

Published in:

Hormone Research in Paediatrics, 2020, v. 93, n. 2, p. 85, doi. 10.1159/000506943

By:

Zimmermann, Maja;
Laemmer, Constanze;
Woelfle, Joachim;
Fimmers, Rolf;
Gohlke, Bettina

Publication type:

Article

Hormonal and Metabolic Responses to a Single Bout of Resistance Exercise in Prader-Willi Syndrome.

Published in:

Hormone Research in Paediatrics, 2017, v. 87, n. 3, p. 1, doi. 10.1159/000454805

By:

Rubin, Daniela A.;
Clark, Susan J.;
Haqq, Andrea M.;
Castner, Diobel M.;
Ng, Jason;
Judelson, Daniel A.

Publication type:

Article

Beneficial Effect of Growth Hormone Treatment on Health-Related Quality of Life in Children with Prader-Willi Syndrome: A Randomized Controlled Trial and Longitudinal Study.

Published in:

Hormone Research in Paediatrics, 2015, v. 84, n. 4, p. 231, doi. 10.1159/000437141

By:

Bakker, Nienke E.;
Siemensma, Elbrich P.C.;
van Rijn, Marjon;
Festen, Dederieke a.M.;
Hokken-Koelega, anita C.S.

Publication type:

Article

Dietary Energy Intake, Body Composition and Resting Energy Expenditure in Prepubertal Children with Prader-Willi Syndrome before and during Growth Hormone Treatment: A Randomized Controlled Trial.

Published in:

Hormone Research in Paediatrics, 2015, v. 83, n. 5, p. 321, doi. 10.1159/000374113

By:

Bakker, N.E.;
Siemensma, E.P.C.;
Koopman, C.;
Hokken-Koelega, a.C.S.

Publication type:

Article

Characterization of Minipuberty in Infants with Prader-Willi Syndrome.

Published in:

Hormone Research in Paediatrics, 2014, v. 82, n. 4, p. 230, doi. 10.1159/000365047

By:

Hirsch, Harry J.;
Eldar-Geva, Talia;
Erlichman, Matityahu;
Pollak, Yehuda;
Gross-Tsur, Varda

Publication type:

Article

Growth Hormone Response to Standard Provocative Stimuli and Combined Tests in Very Young Children with Prader-Willi Syndrome.

Published in:

Hormone Research in Paediatrics, 2014, v. 81, n. 3, p. 189, doi. 10.1159/000356927

By:

Di Giorgio, Girolamo;
Grugni, Graziano;
Fintini, Danilo;
Bocchini, Sarah;
Spera, Sabrina;
Cuttini, Marina;
Cappa, Marco;
Crinò, antonino

Publication type:

Article

Update on Body Composition and Bone Density in Children with Prader-Willi Syndrome.

Published in:

Hormone Research in Paediatrics, 2013, v. 79, n. 5, p. 271, doi. 10.1159/000350525

By:

Rubin, Daniela a.;
Cano-Sokoloff, Natalia;
Castner, Diobel L.;
Judelson, Daniel a.;
Wright, Pamela;
Duran, andrea;
Haqq, andrea M.

Publication type:

Article

POI: A Score to Modulate GH Treatment in Children with Prader-Willi Syndrome.

Published in:

2012

By:

Salvatoni, A.;
Berini, J.;
Chiumello, G.;
Crinò, A.;
Di Candia, S.;
Gargantini, L.;
Grugni, G.;
Iughetti, L.;
Luce, A.;
Musolino, G.;
Sogno Valin, P.;
Spica Russotto, V.;
Trifirò, G.

Publication type:

Letter

The GH/IGF-I Axis and Pituitary Function and Size in Adults with Prader-Willi Syndrome.

Published in:

Hormone Research in Paediatrics, 2011, v. 75, n. 6, p. 403, doi. 10.1159/000323442

By:

van Nieuwpoort;
Sinnema;
Castelijns;
Twisk;
Curfs;
Drent

Publication type:

Article

Effects on Growth and Metabolism of Growth Hormone Treatment for 3 Years in 36 Children with Prader-Willi Syndrome.

Published in:

Hormone Research in Paediatrics, 2011, v. 75, n. 2, p. 123, doi. 10.1159/000319709

By:

Colmenares;
Pinto;
Taupin;
Giuseppe;
Odent;
Trivin;
Laborde;
Souberbielle;
Polak

Publication type:

Article

Effects of Growth Hormone Therapy on Cardiac Dimensions in Children and Adolescents with Prader-Willi Syndrome.

Published in:

Hormone Research in Paediatrics, 2011, v. 75, n. 1, p. 56, doi. 10.1159/000319612

By:

Hauffa, Berthold P.;
Knaup, Kathrin;
Lehmann, Nils;
Neudorf, Ulrich;
Nagel, Bert

Publication type:

Article

Endocrine Disorders in Children with Prader-Willi Syndrome - Data from 142 Children of the French Database.

Published in:

Hormone Research in Paediatrics, 2010, v. 74, n. 2, p. 121, doi. 10.1159/000313377

By:

Diene;
Mimoun;
Feigerlova;
Caula;
Molinas;
Grandjean;
Tauber

Publication type:

Article

Evo-Devo of Child Growth III: Premature Juvenility as an Evolutionary Trade-Off.

Published in:

Hormone Research in Paediatrics, 2010, v. 73, n. 6, p. 430, doi. 10.1159/000282109

By:

Hochberg, Ze'ev

Publication type:

Article

Diagnosis of Two Unrelated Syndromes of Prader-Willi and Calpainopathy: Insight from Trio Whole Genome Analysis and Isodisomy Mapping.

Published in:

Genes, 2024, v. 15, n. 7, p. 946, doi. 10.3390/genes15070946

By:

Cuk, Mario;
Unal, Busra;
Bevanda, Andjela;
Hayes, Connor P.;
Walker, McKenzie;
Abraamyan, Feruza;
Beluzic, Robert;
Gornik, Kristina Crkvenac;
Ozretic, David;
Prutki, Maja;
Nie, Qian;
Reddi, Honey V.;
Ghazani, Arezou A.

Publication type:

Article

Establishing a Standardized DNA Extraction Method Using NaCl from Oral Mucosa Cells for Its Application in Imprinting Diseases Such as Prader–Willi and Angelman Syndromes: A Preliminary Investigation.

Published in:

Genes, 2024, v. 15, n. 5, p. 641, doi. 10.3390/genes15050641

By:

da Fonseca, Letícia Lopes Cabral Guimarães;
Rocha, Danielle Nascimento;
Cintra, Hiago Azevedo;
de Araújo, Luiza Loureiro;
dos Santos, Gabrielle Leal Monteiro;
de Faria, Leonardo Lima;
Salú, Margarida dos Santos;
Leite, Silvia Helena dos Santos;
Rocha, Adriana Duarte;
Lopes, Maria da Conceição Borges;
Ferreira, Igor Ribeiro;
Gomes, Leonardo Henrique Ferreira;
Guida, Letícia Cunha

Publication type:

Article

Non-Coding RNAs in Human Health and Diseases.

Published in:

Genes, 2023, v. 14, n. 7, p. 1429, doi. 10.3390/genes14071429

By:

Good, Deborah J.

Publication type:

Article

Analysis of SNHG14 : A Long Non-Coding RNA Hosting SNORD116 , Whose Loss Contributes to Prader–Willi Syndrome Etiology.

Published in:

Genes, 2023, v. 14, n. 1, p. 97, doi. 10.3390/genes14010097

By:

Ariyanfar, Shadi;
Good, Deborah J.

Publication type:

Article

Epigenetic Mechanisms of ART-Related Imprinting Disorders: Lessons From iPSC and Mouse Models.

Published in:

Genes, 2021, v. 12, n. 11, p. 1704, doi. 10.3390/genes12111704

By:

Horánszky, Alex;
Becker, Jessica L.;
Zana, Melinda;
Ferguson-Smith, Anne C.;
Dinnyés, András

Publication type:

Article

Special Issue: Genetics of Prader–Willi Syndrome.

Published in:

Genes, 2021, v. 12, n. 9, p. 1429, doi. 10.3390/genes12091429

By:

Godler, David E.;
Butler, Merlin G.

Publication type:

Article

The Diagnostic Journey of a Patient with Prader–Willi-Like Syndrome and a Unique Homozygous SNURF-SNRPN Variant; Bio-Molecular Analysis and Review of the Literature.

Published in:

Genes, 2021, v. 13, n. 6, p. 875, doi. 10.3390/genes12060875

By:

Pellikaan, Karlijn;
van Woerden, Geeske M.;
Kleinendorst, Lotte;
Rosenberg, Anna G. W.;
Horsthemke, Bernhard;
Grosser, Christian;
van Zutven, Laura J. C. M.;
van Rossum, Elisabeth F. C.;
van der Lely, Aart J.;
Resnick, James L.;
Brüggenwirth, Hennie T.;
van Haelst, Mieke M.;
de Graaff, Laura C. G.

Publication type:

Article

Hashimoto's Thyroiditis and Graves' Disease in Genetic Syndromes in Pediatric Age.

Published in:

Genes, 2021, v. 12, n. 2, p. 222, doi. 10.3390/genes12020222

By:

Casto, Celeste;
Pepe, Giorgia;
Li Pomi, Alessandra;
Corica, Domenico;
Aversa, Tommaso;
Wasniewska, Malgorzata;
Soares, Paula

Publication type:

Article