Works matching DE "ANGELMAN syndrome"

Results: 569

Angelman syndrome and anesthesia.

Published in:

2008

By:

Patil, Jayaprakash J.;
Sindhakar, Seema

Publication type:

Letter

Vagal hypertonia and anesthesia in Angelman syndrome.

Published in:

2008

By:

Gardner, Jeffrey C.;
Turner, Charles S.;
Ririe, Douglas G.

Publication type:

Letter

Angelman syndrome as a rare anaesthetic problem.

Published in:

2004

By:

Bujok, Grzegorz;
Knapik, Piotr

Publication type:

Letter

Correction: Impairment of TrkB-PSD-95 Signaling in Angelman Syndrome.

Published in:: 2014
Publication type:: Correction Notice

Impairment of TrkB-PSD-95 Signaling in Angelman Syndrome.

Published in:

PLoS Biology, 2013, v. 11, n. 2, p. 1, doi. 10.1371/journal.pbio.1001478

By:

Cao, Cong;
Rioult-Pedotti, Mengia S.;
Migani, Paolo;
Yu, Crystal J.;
Tiwar, Rakesh;
Parang, Keykavous;
Spaller, Mark R.;
Goebel, Dennis J.;
Marshall, John

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

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

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

Longitudinal EEG model detects antisense oligonucleotide treatment effect and increased UBE3A in Angelman syndrome.

Published in:

Brain Communications, 2022, v. 4, n. 3, p. 1, doi. 10.1093/braincomms/fcac106

By:

Spencer, Elizabeth R.;
Wen Shi;
Komorowski, Robert W.;
Gilbert, James P.;
Ostrowski, Lauren M.;
Bird, Lynne M.;
Thibert, Ronald;
Bao, Channa;
Molloy, Fiona;
Calhoun, Michael;
Koirala, Samir;
Jafar-nejad, Paymaan;
Rigo, Frank;
Kramer, Mark A.;
Chu, Catherine J.

Publication type:

Article

Autophagy dysregulation via the USP20-ULK1 axis in the HERC2-related neurodevelopmental disorder.

Published in:

Cell Death Discovery, 2024, v. 10, n. 1, p. 1, doi. 10.1038/s41420-024-01931-6

By:

Sala-Gaston, Joan;
Pérez-Villegas, Eva M.;
Armengol, José A.;
Rawlins, Lettie E.;
Baple, Emma L.;
Crosby, Andrew H.;
Ventura, Francesc;
Rosa, Jose Luis

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

Health-related quality of life and medication use among individuals with Angelman syndrome.

Published in:

Quality of Life Research, 2023, v. 32, n. 7, p. 2059, doi. 10.1007/s11136-023-03375-4

By:

Khan, Nasreen;
Cabo, Raquel;
Burdine, Rebecca D.;
Tan, Wen-Hann;
Keary, Christopher J.;
Ochoa-Lubinoff, Cesar;
Bird, Lynne M.

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

A novel variant in UBE3A in a family with multigenerational intellectual disability and developmental delay.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 4, p. 1, doi. 10.1002/mgg3.1883

By:

Zhao, Xuechao;
Zheng, Yuting;
Wang, Li;
Wang, Yanhong;
Mei, Shiyue;
Kong, Xiangdong

Publication type:

Article

A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 3, p. 1, doi. 10.1002/mgg3.1843

By:

Duis, Jessica;
Nespeca, Mark;
Summers, Jane;
Bird, Lynne;
Bindels‐de Heus, Karen G.C.B.;
Valstar, M. J.;
de Wit, Marie‐Claire Y.;
Navis, C.;
ten Hooven‐Radstaake, Maartje;
van Iperen‐Kolk, Bianca M.;
Ernst, Susan;
Dendrinos, Melina;
Katz, Terry;
Diaz‐Medina, Gloria;
Katyayan, Akshat;
Nangia, Srishti;
Thibert, Ronald;
Glaze, Daniel;
Keary, Christopher;
Pelc, Karine

Publication type:

Article

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

A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 11, p. 1, doi. 10.1002/mgg3.1481

By:

Geerts‐Haages, Amber;
Bossuyt, Stijn N. V.;
Besten, Inge;
Bruggenwirth, Hennie;
Burgt, Ineke;
Yntema, Helger G.;
Punt, A. Mattijs;
Brooks, Alice;
Elgersma, Ype;
Distel, Ben;
Valstar, Marlies

Publication type:

Article

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

Healthcare burden among individuals with Angelman syndrome: Findings from the Angelman Syndrome Natural History Study.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 7, p. N.PAG, doi. 10.1002/mgg3.734

By:

Khan, Nasreen;
Cabo, Raquel;
Tan, Wen‐Hann;
Tayag, Regina;
Bird, Lynne M.

Publication type:

Article

Identification of a de novo splicing variant in the Coffin–Siris gene, SMARCE1, in a patient with Angelman‐like syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 1, p. N.PAG, doi. 10.1002/mgg3.511

By:

Aguilera, Cinthia;
Gabau, Elisabeth;
Laurie, Steve;
Baena, Neus;
Derdak, Sophia;
Capdevila, Núria;
Ramirez, Ariadna;
Delgadillo, Veronica;
García‐Catalan, Maria Jesus;
Brun, Carme;
Guitart, Miriam;
Ruiz, Anna

Publication type:

Article

Diagnosis of an imprinted-gene syndrome by a novel bioinformatics analysis of whole-genome sequences from a family trio.

Published in:

Molecular Genetics & Genomic Medicine, 2014, v. 2, n. 6, p. 530, doi. 10.1002/mgg3.107

By:

Bodian, Dale L.;
Solomon, Benjamin D.;
Khromykh, Alina;
Thach, Dzung C.;
Iyer, Ramaswamy K.;
Link, Kathleen;
Baker, Robin L.;
Baveja, Rajiv;
Vockley, Joseph G.;
Niederhuber, John E.

Publication type:

Article

Contextual fear memory impairment in Angelman syndrome model mice is associated with altered transcriptional responses.

Published in:

Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-45769-x

By:

Su, Wenyue;
Liu, Yan;
Lam, Aileen;
Hao, Xiaoning;
Baudry, Michel;
Bi, Xiaoning

Publication type:

Article

Overview of the Enhanced Natural Gestures Instructional Approach and Illustration of Its Use with Three Students with Angelman Syndrome.

Published in:

Journal of Applied Research in Intellectual Disabilities, 2015, v. 28, n. 2, p. 145, doi. 10.1111/jar.12110

By:

Calculator, Stephen;
Diaz‐Caneja Sela, Patricia

Publication type:

Article

Use and Acceptance of AAC Systems by Children with Angelman Syndrome.

Published in:

Journal of Applied Research in Intellectual Disabilities, 2013, v. 26, n. 6, p. 557, doi. 10.1111/jar.12048

By:

Calculator, Stephen N.

Publication type:

Article

Assessing Joint Attention Responding and Initiation in Children with Angelman Syndrome.

Published in:

Journal of Applied Research in Intellectual Disabilities, 2011, v. 24, n. 5, p. 450, doi. 10.1111/j.1468-3148.2011.00625.x

By:

Summers, Jane;
Impey, Julie

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

Form and Function of Communicative Behaviours in Individuals with Angelman Syndrome.

Published in:

Journal of Applied Research in Intellectual Disabilities, 2009, v. 22, n. 6, p. 526, doi. 10.1111/j.1468-3148.2009.00520.x

By:

Didden, Robert;
Sigafoos, Jeff;
Korzilius, Hubert;
Baas, Astrid;
Lancioni, Giulio E.;
O'Reilly, Mark F.;
Curfs, Leopold M. G.

Publication type:

Article

Use of a Modified Azrin-Foxx Toilet Training Procedure with Individuals with Angelman Syndrome.

Published in:

Journal of Applied Research in Intellectual Disabilities, 2001, v. 14, n. 1, p. 64, doi. 10.1046/j.1468-3148.2001.00047.x

By:

Didden, Robert;
Sikkema, Simone P. E.;
Bosman, Irma T. M.;
Duker, Pieter C.;
Curfs, Leopold M. G.

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

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

Short Stature and Distinct Growth Characteristics in Angelman Syndrome.

Published in:

Hormone Research in Paediatrics, 2024, v. 97, n. 4, p. 334, doi. 10.1159/000534612

By:

Gruber, Noah;
Daka, Ayman;
Lapidot, Noy;
Modan-Moses, Dalit;
Pinhas-Hamiel, Orit;
Ben Zeev, Bruria;
Heimer, Gali

Publication type:

Article

The HECT E3 Ligase E6AP/UBE3A as a Therapeutic Target in Cancer and Neurological Disorders.

Published in:

Cancers, 2020, v. 12, n. 8, p. 2108, doi. 10.3390/cancers12082108

By:

Owais, Asia;
Mishra, Rama K.;
Kiyokawa, Hiroaki

Publication type:

Article

Rizika anestezie u dětí s Angelmanovým syndromem.

Published in:

Anaesthesiology & Intensive Medicine / Anesteziologie a Intenzivní Medicína, 2012, v. 23, n. 4, p. 183

By:

Hladíková, Andrea;
Olos, Tomáš;
Hladík, Michal;
Šilhánová, Eva

Publication type:

Article

Multilocus methylation defects in imprinting disorders.

Published in:

Biomolecular Concepts, 2015, v. 6, n. 1, p. 47, doi. 10.1515/bmc-2014-0037

By:

Mackay, Deborah J. G.;
Eggermann, Thomas;
Buiting, Karin;
Garin, Intza;
Netchine, Irène;
Linglart, Agnès;
Perez de Nanclares, Guiomar

Publication type:

Article

Adaptive Skills of Individuals with Angelman Syndrome Assessed Using the Vineland Adaptive Behavior Scales, 2nd Edition.

Published in:

Journal of Autism & Developmental Disorders, 2024, v. 54, n. 10, p. 3863, doi. 10.1007/s10803-023-06090-8

By:

Gwaltney, Angela;
Potter, Sarah Nelson;
Peters, Sarika U.;
Barbieri-Welge, Rene L.;
Horowitz, Lucia T.;
Noll, Lisa M.;
Hundley, Rachel J.;
Bird, Lynne M.;
Tan, Wen-Hann;
Sadhwani, Anjali;
Wheeler, Anne

Publication type:

Article

The Cost of Raising Individuals with Fragile X or Chromosome 15 Imprinting Disorders in Australia.

Published in:

Journal of Autism & Developmental Disorders, 2023, v. 53, n. 4, p. 1682, doi. 10.1007/s10803-021-05193-4

By:

Baker, Emma K.;
Arora, Sheena;
Amor, David J.;
Date, Perrin;
Cross, Meagan;
O'Brien, James;
Simons, Chloe;
Rogers, Carolyn;
Goodall, Stephen;
Slee, Jennie;
Cahir, Chris;
Godler, David E.

Publication type:

Article

Developmental Skills of Individuals with Angelman Syndrome Assessed Using the Bayley-III.

Published in:

Journal of Autism & Developmental Disorders, 2023, v. 53, n. 2, p. 720, doi. 10.1007/s10803-020-04861-1

By:

Sadhwani, Anjali;
Wheeler, Anne;
Gwaltney, Angela;
Peters, Sarika U.;
Barbieri-Welge, Rene L.;
Horowitz, Lucia T.;
Noll, Lisa M.;
Hundley, Rachel J.;
Bird, Lynne M.;
Tan, Wen-Hann

Publication type:

Article

Parent Description of Anxiety in Angelman Syndrome.

Published in:

Journal of Autism & Developmental Disorders, 2022, v. 52, n. 8, p. 3612, doi. 10.1007/s10803-021-05238-8

By:

Keary, Christopher J.;
Mullett, Jennifer E.;
Nowinski, Lisa;
Wagner, Karyn;
Walsh, Briana;
Saro, Hannah K.;
Erhabor, Gillian;
Thibert, Ronald L.;
McDougle, Christopher J.;
Ravichandran, Caitlin T.

Publication type:

Article

Brief Report: Challenging Behaviors in Toddlers and Preschoolers with Angelman, Prader–Willi, and Williams Syndromes.

Published in:

Journal of Autism & Developmental Disorders, 2019, v. 49, n. 4, p. 1717, doi. 10.1007/s10803-018-3853-x

By:

Neo, Wei Siong;
Tonnsen, Bridgette L.

Publication type:

Article

Movement Disorders and Syndromic Autism: A Systematic Review.

Published in:

Journal of Autism & Developmental Disorders, 2019, v. 49, n. 1, p. 54, doi. 10.1007/s10803-018-3658-y

By:

Bell, L.;
Wittkowski, A.;
Hare, D. J.

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

Delineation of Behavioral Phenotypes in Genetic Syndromes: Characteristics of Autism Spectrum Disorder, Affect and Hyperactivity.

Published in:

Journal of Autism & Developmental Disorders, 2011, v. 41, n. 8, p. 1019, doi. 10.1007/s10803-010-1125-5

By:

Oliver, Chris;
Berg, Katy;
Moss, Jo;
Arron, Kate;
Burbidge, Cheryl

Publication type:

Article

The Prevalence and Phenomenology of Repetitive Behavior in Genetic Syndromes.

Published in:

Journal of Autism & Developmental Disorders, 2009, v. 39, n. 4, p. 572, doi. 10.1007/s10803-008-0655-6

By:

Moss, Joanna;
Oliver, Chris;
Arron, Kate;
Burbidge, Cheryl;
Berg, Katy

Publication type:

Article

Parent Report of Stereotyped Behaviors, Social Interaction, and Developmental Disturbances in Individuals with Angelman Syndrome.

Published in:

Journal of Autism & Developmental Disorders, 2007, v. 37, n. 5, p. 940, doi. 10.1007/s10803-006-0233-8

By:

Walz, Nicolay Chertkoff

Publication type:

Article

Characterization of an Autism-Associated Segmental Maternal Heterodisomy of the Chromosome 15q11–13 Region.

Published in:

Journal of Autism & Developmental Disorders, 2007, v. 37, n. 4, p. 694, doi. 10.1007/s10803-006-0225-8

By:

Kwasnicka-Crawford, Dorota A.;
Roberts, Wendy;
Scherer, Stephen W.

Publication type:

Article

A Paternally Inherited Duplication in the Prader-Willi/ Angelman Syndrome Critical Region: A Case and Family Study.

Published in:

Journal of Autism & Developmental Disorders, 2005, v. 35, n. 1, p. 117, doi. 10.1007/s10803-004-1039-1

By:

Veltman, Marijcke;
Thompson, Russell;
Craig, Ellen;
Dennis, Nicholas;
Roberts, Sian;
Moore, Vanessa;
Brown, Josie;
Bolton, Patrick

Publication type:

Article

Monozygotic twins with development delay and a characteristic electroencephalographic pattern: Just look at the face.

Published in:: 2021
Publication type:: journal article