Works matching DE "ANGELMAN syndrome"

Results: 572

Comprehensive meta-analysis reveals association between multiple imprinting disorders and conception by assisted reproductive technology.

Published in:

Journal of Assisted Reproduction & Genetics, 2018, v. 35, n. 6, p. 943, doi. 10.1007/s10815-018-1173-x

By:

Cortessis, Victoria K.;
Azadian, Moosa;
Buxbaum, James;
Sanogo, Fatimata;
Song, Ashley Y.;
Sriprasert, Intira;
Wei, Pengxiao C.;
Yu, Jing;
Chung, Karine;
Siegmund, Kimberly D.

Publication type:

Article

Detection of a case of Angelman syndrome caused by an imprinting error in 949 pregnancies analyzed for AS following IVF.

Published in:

2018

By:

Johnson, John P.;
Schoof, Jonathon;
Beischel, Linda;
Schwancke, Corbin;
Goldberg, James;
Black, Lauri;
Ross, Lori;
Bhatt, Suchina

Publication type:

Case Study

Silver-Russell syndrome in a girl born after in vitro fertilization: partial hypermethylation at the differentially methylated region of PEG1/MEST.

Published in:

Journal of Assisted Reproduction & Genetics, 2007, v. 24, n. 4, p. 131, doi. 10.1007/s10815-006-9096-3

By:

Kagami, Masayo;
Nagai, Toshiro;
Fukami, Maki;
Yamazawa, Kazuki;
Ogata, Tsutomu

Publication type:

Article

Disease genetics: Therapeutic targeting of a long non-coding RNA.

Published in:

Nature Reviews Genetics, 2015, v. 16, n. 1, p. 2, doi. 10.1038/nrg3879

By:

Koch, Linda

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

Myoclonic status and central fever in Angelman syndrome due to paternal uniparental disomy.

Published in:

Journal of Neurogenetics, 2015, v. 29, n. 4, p. 178, doi. 10.3109/01677063.2015.1091452

By:

Nicita, Francesco;
Garone, Giacomo;
Papetti, Laura;
Consoli, Federica;
Magliozzi, Monia;
De Luca, Alessandro;
Spalice, Alberto

Publication type:

Article

CaMKIIα hub ligands are unable to reverse known phenotypes in Angelman syndrome mice.

Published in:

Basic & Clinical Pharmacology & Toxicology, 2025, v. 136, n. 1, p. 1, doi. 10.1111/bcpt.14112

By:

Gauger, Stine J.;
Lie, Maria E. K.;
Wallaard, Ilse;
Tian, Yongsong;
Marek, Aleš;
Frølund, Bente;
van Woerden, Geeske M.;
Elgersma, Ype;
Kornum, Birgitte R.;
Wellendorph, Petrine

Publication type:

Article

Delta power robustly predicts cognitive function in Angelman syndrome.

Published in:

Annals of Clinical & Translational Neurology, 2021, v. 8, n. 7, p. 1433, doi. 10.1002/acn3.51385

By:

Ostrowski, Lauren M.;
Spencer, Elizabeth R.;
Bird, Lynne M.;
Thibert, Ronald;
Komorowski, Robert W.;
Kramer, Mark A.;
Chu, Catherine J.

Publication type:

Article

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

Investigating sleep architecture in Angelman, Cri du Chat and Cornelia de Lange syndromes.

Published in:

Journal of Intellectual Disability Research, 2008, v. 52, n. 10, p. 815, doi. 10.1111/j.1365-2788.2008.01119_15.x

By:

Petty, J.;
Oliver, C.;
Moss, J.;
Howlin, P.;
Tunnicliffe, P.;
Griffith, G.;
Hastings, R.

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

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

The behavioural phenotype of Angelman syndrome.

Published in:

Journal of Intellectual Disability Research, 2006, v. 50, n. 1, p. 33, doi. 10.1111/j.1365-2788.2005.00730.x

By:

Horsler, K.;
Oliver, C.

Publication type:

Article

Preferences in individuals with Angelman syndrome assessed by a modified Choice Assessment Scale.

Published in:

Journal of Intellectual Disability Research, 2006, v. 50, n. 1, p. 54, doi. 10.1111/j.1365-2788.2005.00731.x

By:

Didden, R.;
Korzilius, H.;
Kamphuis, A.;
Sturmey, P.;
Lancioni, G.;
Curfs, L. M. G.

Publication type:

Article

Communication profiles of individuals with Down's syndrome, Angelman syndrome and pervasive developmental disorder.

Published in:

Journal of Intellectual Disability Research, 2002, v. 46, n. 1, p. 35, doi. 10.1046/j.1365-2788.2002.00355.x

By:

Duker, P. C;
Driel, S. van;
Bercken, J. van de

Publication type:

Article

Behaviour problems in Angelman syndrome.

Published in:

Journal of Intellectual Disability Research, 1995, v. 39, n. 2, p. 97, doi. 10.1111/j.1365-2788.1995.tb00477.x

By:

Summers, J. A.;
Allison, D. B.;
Lynch, P. S.;
Sandier, L.

Publication type:

Article

THE SPECTRUM OF MICRODELETIAN SYNDROMES AT THE HOSPITAL OF LITHUANIAN UNIVERSITY OF HEALTH SCIENCES.

Published in:

Genetika (0534-0012), 2016, v. 48, n. 3, p. 859, doi. 10.2298/GENSR1603859C

By:

CESAITYTE, Karina;
SERAPINAS, Danielius

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

Uniparental disomy: clinical indications for testing in growth retardation.

Published in:

European Journal of Pediatrics, 2002, v. 161, n. 6, p. 305, doi. 10.1007/s00431-002-0916-x

By:

Eggermann, Thomas;
Zerres, Klaus;
Eggermann, Katja;
Moore, Gudrun;
Wollmann, Hartmut A.

Publication type:

Article

Parent-implemented Hanen program More than words in Angelman syndrome: A case study.

Published in:

2016

By:

de Carlos Isla, Mercedes;
Baixauli Fortea, Inmaculada

Publication type:

Case Study

15q11.2 BP1-BP2 microdeletion presenting as progressive spastic paraplegia and brain images of small vessel disease.

Published in:

Neurosciences, 2022, v. 27, n. 3, p. 191, doi. 10.17712/nsj.2022.3.20220033

By:

Qianqian Sha;
Yu Xia;
Xiya Shen;
Ailian Du

Publication type:

Article

Clinical and Cytogenetic Impact of Maternal Balanced Double Translocation: A Familial Case of 15q11.2 Microduplication and Microdeletion Syndromes with Genetic Counselling Implications.

Published in:

Genes, 2024, v. 15, n. 12, p. 1546, doi. 10.3390/genes15121546

By:

Vieira, Daniela Koeller R.;
Lima, Ingrid Bendas Feres;
Rosenberg, Carla;
Fonseca, Carlos Roberto da;
Gomes, Leonardo Henrique Ferreira;
Guida, Letícia da Cunha;
Mazzonetto, Patrícia Camacho;
Llerena Jr., Juan;
Bastos, Elenice Ferreira

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

Status Epilepticus in Chromosomal Disorders Associated with Epilepsy: A Systematic Review.

Published in:

Genes, 2023, v. 14, n. 2, p. 299, doi. 10.3390/genes14020299

By:

Bergonzini, Luca;
Pruccoli, Jacopo;
Pettenuzzo, Ilaria;
Pugliano, Rosa;
Soliani, Luca;
Fetta, Anna;
Cordelli, Duccio Maria

Publication type:

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

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

Genotype–Phenotype Correlations in Angelman Syndrome.

Published in:

Genes, 2021, v. 12, n. 7, p. 987, doi. 10.3390/genes12070987

By:

Yang, Lili;
Shu, Xiaoli;
Mao, Shujiong;
Wang, Yi;
Du, Xiaonan;
Zou, Chaochun

Publication type:

Article

Angelman syndrome: review of clinical and molecular aspects.

Published in:

Application of Clinical Genetics, 2014, v. 7, p. 93, doi. 10.2147/TACG.S57386

By:

Bird, Lynne M.

Publication type:

Article

Comprehensive molecular and clinical findings in 29 patients with multi-locus imprinting disturbance.

Published in:

Clinical Epigenetics, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13148-024-01744-5

By:

Urakawa, Tatsuki;
Soejima, Hidenobu;
Yamoto, Kaori;
Hara-Isono, Kaori;
Nakamura, Akie;
Kawashima, Sayaka;
Narusawa, Hiromune;
Kosaki, Rika;
Nishimura, Yutaka;
Yamazawa, Kazuki;
Hattori, Tetsuo;
Muramatsu, Yukako;
Inoue, Takanobu;
Matsubara, Keiko;
Fukami, Maki;
Saitoh, Shinji;
Ogata, Tsutomu;
Kagami, Masayo

Publication type:

Article

Genome-wide gene expression profiling of the Angelman syndrome mice with Ube3a mutation.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 11, p. 1228, doi. 10.1038/ejhg.2010.95

By:

Low, Daren;
Ken-Shiung Chen

Publication type:

Article

Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 4, p. 436, doi. 10.1038/ejhg.2009.199

By:

Williams, Stephen R.;
Mullegama, Sureni V.;
Rosenfeld, Jill A.;
Dagli, Aditi I.;
Hatchwell, Eli;
Allen, William P.;
Williams, Charles A.;
Elsea, Sarah H.

Publication type:

Article

Angelman syndrome (AS, MIM 105830).

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1367, doi. 10.1038/ejhg.2009.67

By:

Van Buggenhout, Griet;
Fryns, Jean-Pierre

Publication type:

Article

Mutation in the SLC9A6 gene is not a frequent cause of sporadic Angelman-like syndrome.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1378, doi. 10.1038/ejhg.2009.82

By:

Fichou, Yann;
Bahi-Buisson, Nadia;
Nectoux, Juliette;
Chelly, Jamel;
Héron, Delphine;
Cuisset, Laurence;
Bienvenu, Thierry

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

Recurrent rearrangements in the proximal 15q11–q14 region: a new breakpoint cluster specific to unbalanced translocations.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 4, p. 432, doi. 10.1038/sj.ejhg.5201775

By:

Mignon-Ravix, Cécile;
Depetris, Danielle;
Luciani, Judith J.;
Cuoco, Cristina;
Krajewska-Walasek, Malgorzata;
Missirian, Chantal;
Collignon, Patrick;
Delobel, Bruno;
Croquette, Marie-Françoise;
Moncla, Anne;
Kroisel, Peter M.;
Mattei, Marie-Geneviève

Publication type:

Article

Parental and chromosomal origins of microdeletion and duplication syndromes involving 7q11.23, 15q11-q13 and 22q11.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 7, p. 831, doi. 10.1038/sj.ejhg.5201617

By:

Thomas, N. Simon;
Durkie, Miranda;
Potts, Gemma;
Sandford, Richard;
Van Zyl, Berendine;
Youings, Sheila;
Dennis, Nicholas R.;
Jacobs, Patricia A.

Publication type:

Article

Identification of cis- and trans-acting factors possibly modifying the risk of epimutations on chromosome 15.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 6, p. 752, doi. 10.1038/sj.ejhg.5201602

By:

Zogel, Corinna;
Böhringer, Stefan;
Groß, Stephanie;
Varon, Raymonda;
Buiting, Karin;
Horsthemke, Bernhard

Publication type:

Article

Phenotypic variability in Angelman syndrome: comparison among different deletion classes and between deletion and UPD subjects.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 12, p. 987, doi. 10.1038/sj.ejhg.5201264

By:

Varela, Monica Castro;
Kok, Fernando;
Otto, Paulo Alberto;
Koiffmann, Celia Priszkulnik

Publication type:

Article

Segmental maternal heterodisomy of the proximal part of chromosome 15 in an infant with Prader-Willi syndrome.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 5, p. 411, doi. 10.1038/sj.ejhg.5201168

By:

Nazarenko, Sergey;
Sazhenova, Elena;
Baumer, Alessandra;
Schinzel, Albert

Publication type:

Article

Difficulties of genetic counseling and prenatal diagnosis in a consanguineous couple segregating for the same translocation (14;15) (q11;q13) and at risk for Prader-Willi and Angelman syndromes.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 3, p. 181, doi. 10.1038/sj.ejhg.5201134

By:

Flori, Elisabeth;
Biancalana, Valérie;
Girard-Lemaire, Françoise;
Favre, Romain;
Flori, Jean;
Doray, Bérénice;
Mandel, Jean Louis

Publication type:

Article

Problems in detecting mosaic DNA methylation in Angelman syndrome.

Published in:

2003

By:

Horsthemke, Bernhard

Publication type:

Letter

Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons.

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 1, p. 26, doi. 10.1038/sj.ejhg.5200760

By:

Pujana, Miguel Angel;
Nadal, Marga;
Guitart, Miriam;
Armengol, Lluís;
Gratacòs, Mònica;
Estivill, Xavier

Publication type:

Article

Comprehensive methylation analysis in typical and atypical PWS and AS patients with normal biparental chromosomes 15.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 7, p. 519, doi. 10.1038/sj.ejhg.5200661

By:

Runte, Maren;
Färber, Claudia;
Lich, Christina;
Zeschnigk, Michael;
Buchholz, Tina;
Smith, Arabella;
Van Maldergem, Lionel;
Bürger, Joachim;
Muscatelli, Françoise;
Gillessen-Kaesbach, Gabriele;
Horsthemke, Bernhard;
Buiting, Karin

Publication type:

Article

Phenotype in patients with Angelman syndrome.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 4, p. 241, doi. 10.1038/sj.ejhg.5200456

By:

Dan, Bernard

Publication type:

Article

A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 6, p. 638, doi. 10.1038/sj.ejhg.5200362

By:

Gillessen-Kaesbach, Gabriele;
Demuth, Stephanie;
Thiele, Hannelore;
Theile, Ursel;
Lich, Christina;
Horsthemke, Bernhard

Publication type:

Article

Phenotype–genotype correlation in 20 deletion and 20 non-deletion Angelman syndrome patients.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 2, p. 131, doi. 10.1038/sj.ejhg.5200258

By:

Moncla, Anne;
Malzac, Perrine;
Voelckel, Marie-Antoinette;
Auquier, Pascal;
Girardot, Lydie;
Mattei, Marie-Genevieve;
Philip, Nicole;
Mattei, Jean-François;
Lalande, Marc;
Livet, Marie-Odile

Publication type:

Article

Angelman Syndrome: A Case Series Assessing Neurological Issues in Adulthood.

Published in:

European Neurology, 2015, v. 73, n. 1/2, p. 119, doi. 10.1159/000369454

By:

Giroud, Marie;
Daubail, Benoît;
Khayat, Norbert;
Chouchane, Mondher;
Berger, Eric;
Muzard, Emelyne;
Medeiros de Bustos, Elisabeth;
Thauvin-Robinet, Christel;
Faivre, Laurence;
Masurel, alice;
Darmency-Stamboul, Véronique;
Huet, Frédéric;
Béjot, Yannick;
Giroud, Maurice;
Moulin, Thierry

Publication type:

Article

Genetic testing for Prader-Willi syndrome and Angelman syndrome in the clinical practice of Guangdong Province, China.

Published in:

Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0420-x

By:

Liu, Chang;
Zhang, Xiangzhong;
Wang, Jicheng;
Zhang, Yan;
Wang, Anshi;
Lu, Jian;
Huang, Yanlin;
Liu, Shu;
Wu, Jing;
Du, Li;
Yang, Jie;
Ding, Hongke;
Liu, Ling;
Zhao, Xin;
Yin, Aihua

Publication type:

Article

Maternal uniparental isodisomy for chromosome 6 discovered by paternity testing: a case report.

Published in:

2018

By:

Kerr, Elizabeth R.;
Stuhlmiller, Gary M.;
Maha, George C.;
Ladd, Mark A.;
Koester, Ruth P.;
Mikhail, Fady M.;
Hurst, Anna C. E.

Publication type:

Case Study