Works matching Angelman syndrome

Results: 1022

Angelman Syndrome and Angelman-like Syndromes Share the Same Calcium-Related Gene Signatures.

Published in:

International Journal of Molecular Sciences, 2021, v. 22, n. 18, p. 9870, doi. 10.3390/ijms22189870

By:

Panov, Julia;
Kaphzan, Hanoch

Publication type:

Article

HISTORIAS DE VIDA DE FAMILIAS CON HIJOS E HIJAS CON SÍNDROME DE ANGELMAN.

Published in:

Siglo Cero, 2019, v. 50, n. 4, p. 23, doi. 10.14201/scero20195042337

By:

GOITIA AÑORGA, Amaia;
DARRETXE URRITXI, Leire;
BERASATEGI SANCHO, Naiara

Publication type:

Article

Association between early and current gastro‐intestinal symptoms and co‐morbidities in children and adolescents with Angelman syndrome.

Published in:

Journal of Intellectual Disability Research, 2022, v. 66, n. 11, p. 865, doi. 10.1111/jir.12975

By:

Leader, G.;
Whelan, S.;
Chonaill, N. N.;
Coyne, R.;
Tones, M.;
Heussler, H.;
Bellgard, M.;
Mannion, A.

Publication type:

Article

Angelman Syndrome at the Synapse: Meeting Report of the Angelman Syndrome Foundation's 2009 Scientific Symposium.

Published in:

2010

By:

Williams, Charles;
Franco, Lisa

Publication type:

Conference Paper/Materials

Melatonin is effective in treating sleep problems in Angelman syndrome but problems in metabolising melatonin may be part of the Angelman phenotype.

Published in:

Journal of Intellectual Disability Research, 2008, v. 52, n. 10, p. 814, doi. 10.1111/j.1365-2788.2008.01119_11.x

By:

Braam, W.;
Smits, M. G.;
Didden, R.;
Curfs, L. M. G.

Publication type:

Article

Behavioural flexibility in individuals with Angelman syndrome, Down syndrome, non-specific intellectual disability and Autism spectrum disorder.

Published in:

Journal of Intellectual Disability Research, 2008, v. 52, n. 6, p. 503, doi. 10.1111/j.1365-2788.2008.01055.x

By:

Didden, R.;
Sigafoos, J.;
Green, V. A.;
Korzilius, H.;
Mouws, C.;
Lancioni, G. E.;
O'Reilly, M. F.;
Curfs, L. M. G.

Publication type:

Article

Bone health in children with Angelman syndrome at the ENCORE Expertise Center.

Published in:

European Journal of Pediatrics, 2024, v. 183, n. 1, p. 103, doi. 10.1007/s00431-023-05231-6

By:

Bindels-de Heus, Karen G. C. B.;
Hagenaar, Doesjka A.;
Mous, Sabine E.;
Dekker, Ilonka;
van der Kaay, Daniëlle C. M.;
Kerkhof, Gerthe F.;
Elgersma, Ype;
Moll, Henriette A.;
de Wit, Marie-Claire Y.

Publication type:

Article

Incontinence in persons with Angelman syndrome.

Published in:

2017

By:

Wagner, C;
Niemczyk, J;
Equit, M;
Curfs, L;
Gontard, A;
von Gontard, A

Publication type:

journal article

An Analysis of Phenotype and Genotype in a Large Cohort of Chinese Children with Angelman Syndrome.

Published in:

Genes, 2022, v. 13, n. 8, p. 1447, doi. 10.3390/genes13081447

By:

Du, Xiaonan;
Wang, Ji;
Li, Shuang;
Ma, Yu;
Wang, Tianqi;
Wu, Bingbing;
Zhou, Yuanfeng;
Yu, Lifei;
Wang, Yi

Publication type:

Article

Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype–phenotype correlations.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 9, p. 943, doi. 10.1038/sj.ejhg.5201859

By:

Sahoo, Trilochan;
Bacino, Carlos A.;
German, Jennifer R.;
Shaw, Chad A.;
Bird, Lynne M.;
Kimonis, Virginia;
Anselm, Irinia;
Waisbren, Susan;
Beaudet, Arthur L.;
Peters, Sarika U.

Publication type:

Article

Prenatal diagnosis and genetic counseling in a fetus associated with risk of Angelman syndrome with a small supernumerary marker chromosome derived from chromosome 22.

Published in:

Molecular Cytogenetics (17558166), 2016, v. 9, p. 1, doi. 10.1186/s13039-016-0248-6

By:

Yu-an Hu;
Yingxia Cui;
Xiaobo Fan;
Qiuyue WU;
Weiwei Li;
Weiping Wang

Publication type:

Article

A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome.

Published in:

2019

By:

Han, Julia;
Bichell, Terry Jo;
Golden, Stephanie;
Anselm, Irina;
Waisbren, Susan;
Bacino, Carlos A.;
Peters, Sarika U.;
Bird, Lynne M.;
Kimonis, Virginia

Publication type:

journal article

A randomized placebo controlled clinical trial to evaluate the efficacy and safety of minocycline in patients with Angelman syndrome (A-MANECE study).

Published in:

2018

By:

Ruiz-Antoran, Belén;
Sancho-López, Aranzazu;
Cazorla-Calleja, Rosario;
López-Pájaro, Luis Fernando;
Leiva, Ágata;
Iglesias-Escalera, Gema;
Marín-Serrano, Maria Esperanza;
Rincón-Ortega, Marta;
Lara-Herguedas, Julián;
Rossignoli-Palomeque, Teresa;
Valiente-Rodríguez, Sara;
González-Marques, Javier;
Román-Riechmann, Enriqueta;
Avendaño-Solá, Cristina;
Ruiz-Antoran, Belén;
Sancho-López, Aranzazu;
López-Pájaro, Luis Fernando;
Leiva, Ágata;
Marín-Serrano, Maria Esperanza;
Rincón-Ortega, Marta

Publication type:

journal article

Angelman syndrome: clinical findings and follow-up data of 14 patients.

Published in:

Turkish Journal of Pediatrics, 2008, v. 50, n. 2, p. 137

By:

Kara, Bülent;
Karaman, Birsen;
Özmen, Meral;
Rosti, Rasim Özgür;
Çalişkan, Mine;
Kayserili, Hülya;
Başaran, Seher

Publication type:

Article

Epilepsy in Angelman's Syndrome.

Published in:

Neuroscience & Behavioral Physiology, 2023, v. 53, n. 3, p. 302, doi. 10.1007/s11055-023-01425-5

By:

Bobylova, M. Yu.;
Mukhin, K. Yu.;
Kuzmich, G. V.;
Glukhova, L. Yu.;
Pylayeva, O. A.

Publication type:

Article

Child characteristics associated with child quality of life and parenting stress in Angelman syndrome.

Published in:

Journal of Intellectual Disability Research, 2024, v. 68, n. 3, p. 248, doi. 10.1111/jir.13106

By:

Hagenaar, D. A.;
Bindels‐de Heus, K. G. C. B.;
Lubbers, K.;
ten Hoopen, L. W.;
Rietman, A. B.;
de Nijs, P. F. A.;
Hillegers, M. H. J.;
Moll, H. A.;
de Wit, M. C. Y.;
Dieleman, G. C.;
Mous, S. E.

Publication type:

Article

Anxiety‐associated and separation distress‐associated behaviours in Angelman syndrome.

Published in:

Journal of Intellectual Disability Research, 2019, v. 63, n. 10, p. 1234, doi. 10.1111/jir.12635

By:

Wheeler, A. C.;
Okoniewski, K. C.;
Wylie, A.;
DeRamus, M.;
Hiruma, L. S.;
Toth, D.;
Christian, R. B.

Publication type:

Article

Research protocol: The initiation, design and establishment of the Global Angelman Syndrome Registry.

Published in:

Journal of Intellectual Disability Research, 2018, v. 62, n. 5, p. 431, doi. 10.1111/jir.12482

By:

Tones, M.;
Cross, M.;
Simons, C.;
Napier, K. R.;
Hunter, A.;
Bellgard, M. I.;
Heussler, H.

Publication type:

Article

Sleep in children and adolescents with Angelman syndrome: association with parent sleep and stress.

Published in:

Journal of Intellectual Disability Research, 2012, v. 56, n. 6, p. 600, doi. 10.1111/j.1365-2788.2011.01499.x

By:

Goldman, S. E.;
Bichell, T. J.;
Surdyka, K.;
Malow, B. A.

Publication type:

Article

Effects of adult familiarity on social behaviours in Angelman syndrome.

Published in:

Journal of Intellectual Disability Research, 2011, v. 55, n. 3, p. 339, doi. 10.1111/j.1365-2788.2010.01364.x

By:

Mount, R.;
Oliver, C.;
Berg, K.;
Horsler, K.

Publication type:

Article

Vagal nerve stimulation for medically refractory epilepsy in Angelman syndrome: a series of three cases.

Published in:

Child's Nervous System, 2018, v. 34, n. 3, p. 395, doi. 10.1007/s00381-018-3723-z

By:

Tomei, Krystal L.;
Mau, Christine Y.;
Ghali, Michael;
Pak, Jayoung;
Goldstein, Ira M.

Publication type:

Article

Remote EEG acquisition in Angelman syndrome using PANDABox-EEG.

Published in:

Journal of Neurodevelopmental Disorders, 2025, v. 17, n. 1, p. 1, doi. 10.1186/s11689-025-09611-x

By:

Gálvez-Ortega, Kimberly;
Harold, Roslyn;
Neo, Wei Siong;
Hoilett, Orlando S.;
Borosh, Amanda M.;
Friesen-Haarer, Alexa;
Gombas, Stephanie;
Foti, Dan;
Kelleher, Bridgette

Publication type:

Article

Evaluation of the safety and tolerability of a nutritional Formulation in patients with ANgelman Syndrome (FANS): study protocol for a randomized controlled trial.

Published in:

2020

By:

Herber, Donna L.;
Weeber, Edwin J.;
D'Agostino, Dominic P.;
Duis, Jessica

Publication type:

journal article

An open-label pilot trial of minocycline in children as a treatment for Angelman syndrome.

Published in:

BMC Neurology, 2014, v. 14, n. 1, p. 42, doi. 10.1186/s12883-014-0232-x

By:

Grieco, Joseph C.;
Ciarlone, Stephanie L.;
Gieron-Korthals, Maria;
Schoenberg, Mike R.;
Smith, Amanda G.;
Philpot, Rex M.;
Heussler, Helen S.;
Banko, Jessica L.;
Weeber, Edwin J.

Publication type:

Article

Autism in Angelman syndrome.

Published in:

Autism: The International Journal of Research & Practice, 2004, v. 8, n. 2, p. 163, doi. 10.1177/1362361304042720

By:

Trillingsgaard, Anegen;
Østergaard, John R.

Publication type:

Article

Angelman syndrome - A rare case report.

Published in:

Indian Journal of Public Health Research & Development, 2011, v. 2, n. 1, p. 78

By:

Shubha, C.;
Pramod, G. V.;
Sujatha, G. P;
Ashok, L.;
Kulkarni

Publication type:

Article

A web-based, patient driven registry for Angelman syndrome: the global Angelman syndrome registry.

Published in:

2017

By:

Napier, Kathryn R.;
Tones, Megan;
Simons, Chloe;
Heussler, Helen;
Hunter, Adam A.;
Cross, Meagan;
Bellgard, Matthew I.

Publication type:

Letter

Angelman syndrome: The blurred lines of interpretation in cognitive defects.

Published in:

Journal of Pediatric Neurosciences, 2015, v. 10, n. 1, p. 70, doi. 10.4103/1817-1745.154360

By:

Mane, Sushant;
Chatterjee, Rudrarpan

Publication type:

Article

ANGELMAN SYNDROME: IMPLICATIONS FOR PHYSICAL EDUCATION AND OTHER MOVEMENT SETTINGS.

Published in:

Palaestra, 2015, v. 29, n. 3, p. 35, doi. 10.18666/PALAESTRA-2015-V29-I3-6913

By:

GOHS, REBECCA S.

Publication type:

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

Preserved expressive language as a phenotypic determinant of Mosaic Angelman Syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.837

By:

Carson, Robert P.;
Bird, Lynne;
Childers, Anna K.;
Wheeler, Ferrin;
Duis, Jessica

Publication type:

Article

Communication‐related assessments in an Angelman syndrome mouse model.

Published in:

Brain & Behavior, 2021, v. 11, n. 1, p. 1, doi. 10.1002/brb3.1937

By:

Perrino, Peter A.;
Chamberlain, Stormy J.;
Eigsti, Inge‐Marie;
Fitch, Roslyn Holly

Publication type:

Article

Case Report: An Atypical Angelman Syndrome Case With Obesity and Fulfilled Autism Spectrum Disorder Identified by Microarray.

Published in:

Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.755605

By:

Hnoonual, Areerat;
Kor-anantakul, Phawin;
Charalsawadi, Chariyawan;
Worachotekamjorn, Juthamas;
Limprasert, Pornprot

Publication type:

Article

Establishment of the first WHO international genetic reference panel for Prader Willi and Angelman syndromes.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 8, p. 857, doi. 10.1038/ejhg.2011.59

By:

Boyle, Jennifer;
Hawkins, Malcolm;
Barton, David E.;
Meaney, Karen;
Guitart, Miriam;
O'Grady, Anna;
Tobi, Simon;
Ramsden, Simon C.;
Elles, Rob;
Gray, Elaine;
Metcalfe, Paul;
Hawkins, J. Ross

Publication type:

Article

Angelman Syndrome due to familial translocation: unexpected additional results characterized by Microarray-based Comparative Genomic Hybridization.

Published in:

2015

By:

Yokoyama-Rebollar, Emiy;
Ruiz-Herrera, Adriana;
Lieberman-Hernández, Esther;
Del Castillo-Ruiz, Victoria;
Sánchez-Sandoval, Silvia;
Ávila-Flores, Silvia M.;
Castrillo, José Luis

Publication type:

Case Study

Early detection of Angelman syndrome resulting from de novo paternal isodisomic 15q UPD and review of comparable cases.

Published in:

2013

By:

Horváth, Emese;
Horváth, Zsuzsanna;
Isaszegi, Dóra;
Gergev, Gyurgyinka;
Nagy, Nikoletta;
Szabó, János;
Sztriha, László;
Széll, Márta;
Endreffy, Emőke

Publication type:

Case Study

Revisiting epilepsy and the electroencephalogram patterns in Angelman syndrome.

Published in:

Neurological Sciences, 2014, v. 35, n. 5, p. 701, doi. 10.1007/s10072-013-1586-3

By:

Leyser, Marcio;
Penna, Patricia;
Almeida, Alexandre;
Vasconcelos, Marcio;
Nascimento, Osvaldo

Publication type:

Article

Facilitación de las relaciones interpersonales mediante un programa acuático educativo para personas con síndrome de Angelman.

Published in:

Revista de Investigación en Educación, 2012, v. 10, n. 2, p. 35

By:

Sampol, Pere Palou;
Ponseti Verdaguer, Francisco Javier;
Borràs Rotger, Pere-Antoni;
Conti, Josep Vidal;
Ramón, Jaime Cantallops

Publication type:

Article

Delayed loss of UBE3A reduces the expression of Angelman syndrome-associated phenotypes.

Published in:

Molecular Autism, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13229-019-0277-1

By:

Sonzogni, Monica;
Hakonen, Johanna;
Bernabé Kleijn, Mireia;
Silva-Santos, Sara;
Judson, Matthew C.;
Philpot, Benjamin D.;
van Woerden, Geeske M.;
Elgersma, Ype

Publication type:

Article

A behavioral test battery for mouse models of Angelman syndrome: a powerful tool for testing drugs and novel Ube3a mutants.

Published in:

Molecular Autism, 2018, v. 9, n. 1, p. N.PAG, doi. 10.1186/s13229-018-0231-7

By:

Sonzogni, Monica;
Wallaard, Ilse;
Santos, Sara Silva;
Kingma, Jenina;
du Mee, Dorine;
van Woerden, Geeske M.;
Elgersma, Ype

Publication type:

Article

Electroencephalogram (EEG) Duration Needed to Detect Abnormalities in Angelman Syndrome: Is 1 Hour of Overnight Recording Sufficient?

Published in:

Journal of Child Neurology, 2015, v. 30, n. 1, p. 58, doi. 10.1177/0883073814530498

By:

Robinson, Althea A.;
Goldman, Suzanne;
Barnes, Gregory;
Goodpaster, Luke;
Malow, Beth A.

Publication type:

Article

Sleep disturbance in adults with Angelman syndrome.

Published in:

Sleep & Biological Rhythms, 2008, v. 6, n. 2, p. 95, doi. 10.1111/j.1479-8425.2008.00339.x

By:

ANDERSON, Kirstie N.;
PILSWORTH, Samantha;
JAMIESON, Sarah;
RAY, Julian;
SHNEERSON, John M.;
LENNOX, Graeme G.

Publication type:

Article

Exploring the Clinical and Genetic Landscape of Angelman Syndrome: Patient-Reported Insights from an Italian Registry.

Published in:

Journal of Clinical Medicine, 2024, v. 13, n. 12, p. 3520, doi. 10.3390/jcm13123520

By:

Carriero, Pier Luigi;
Zangari, Rosalia;
Sfreddo, Eleonora;
Ghirardi, Arianna;
Schieppati, Arrigo;
Barbui, Tiziano;
Biroli, Francesco

Publication type:

Article

Phenotypic variability in Angelman syndrome — report of two cases.

Published in:

Maedica - a Journal of Clinical Medicine, 2008, v. 3, n. 3, p. 192

By:

BUDISTEANU, Magdalena;
ARGHIR, Aurora;
CARDOS, Georgeta;
CHIRIEAC, Sorina;
MACUREANU, Sanda;
BLANCHO, Dominique;
DUPONT, Jean-Michel;
LUNGEANU, Agripina

Publication type:

Article

Teaching discriminated social approaches to individuals with Angelman syndrome.

Published in:

Journal of Applied Behavior Analysis (John Wiley & Sons, Inc.), 2015, v. 48, n. 4, p. 734, doi. 10.1002/jaba.237

By:

Fichtner, Caitlin S.;
Tiger, Jeffrey H.

Publication type:

Article

Adrenal Insufficiency, Sex Reversal, and Angelman Syndrome due to Uniparental Disomy Unmasking a Mutation in <bold>CYP11A1</bold>.

Published in:

Hormone Research in Paediatrics, 2018, v. 89, n. 3, p. 205, doi. 10.1159/000487638

By:

Kim, Ahlee;
Fujimoto, Masanobu;
Hwa, Vivian;
Backeljauw, Philippe;
Dauber, Andrew

Publication type:

Article

Brief Report: A Longitudinal Study of Excessive Smiling and Laughing in Children with Angelman Syndrome.

Published in:

2015

By:

Adams, Dawn;
Horsler, Kate;
Mount, Rebecca;
Oliver, Chris

Publication type:

Report

Benefit of Corticosteroid Therapy in Angelman Syndrome.

Published in:

Journal of Child Neurology, 2009, v. 24, n. 8, p. 952, doi. 10.1177/0883073808331344

By:

Forrest, Katharine M. L.;
Young, Helen;
Dale, Russell C.;
Gill, Deepak S.

Publication type:

Article

Angelman Syndrome Scientific Symposium on the Structure and Function of UBE3A/E6AP.

Published in:

Journal of Child Neurology, 2009, v. 24, n. 7, p. 904, doi. 10.1177/0883073809332767

By:

Williams, Charles

Publication type:

Article

Angelman Syndrome Due to a Novel Splicing Mutation of the UBE3A Gene.

Published in:

Journal of Child Neurology, 2008, v. 23, n. 8, p. 912, doi. 10.1177/0883073808316367

By:

Sartori, Stefano;
Anesi, Laura;
Polli, Roberta;
Toldo, Irene;
Casarin, Alberto;
Drigo, Paola;
Murgia, Alessandra

Publication type:

Article