Works matching DE "ANGELMAN syndrome"

Results: 557
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    Autism Symptoms in Children and Young Adults With Fragile X Syndrome, Angelman Syndrome, Tuberous Sclerosis Complex, and Neurofibromatosis Type 1: A Cross-Syndrome Comparison.

    Published in:
    Frontiers in Psychiatry, 2022, v. 13, p. 1, doi. 10.3389/fpsyt.2022.852208
    By:
    • Lubbers, Kyra;
    • Stijl, Eefje M.;
    • Dierckx, Bram;
    • Hagenaar, Doesjka A.;
    • ten Hoopen, Leontine W.;
    • Legerstee, Jeroen S.;
    • de Nijs, Pieter F. A.;
    • Rietman, André B.;
    • Greaves-Lord, Kirstin;
    • Hillegers, Manon H. J.;
    • Dieleman, Gwendolyn C.;
    • Mous, Sabine E.;
    • Oostenbrink, Rianne;
    • Bindels-de Heus, Karen C.G.B.;
    • de Wit, Marie-Claire Y.;
    • Mol, Henriëtte A.;
    • Elgersma, Ype
    Publication type:
    Article
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    Editorial.

    Published in:
    2001
    By:
    • Hartelius, Lena
    Publication type:
    Editorial
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    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
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    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
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    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
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    Outcome measures in Angelman syndrome.

    Published in:
    Journal of Neurodevelopmental Disorders, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s11689-024-09516-1
    By:
    • Hagenaar, Doesjka A.;
    • Bindels-de Heus, Karen G. C. B.;
    • van Gils, Maud M.;
    • van den Berg, Louise;
    • ten Hoopen, Leontine W.;
    • Affourtit, Philine;
    • Pel, Johan J. M.;
    • Joosten, Koen F. M.;
    • Hillegers, Manon H. J.;
    • Moll, Henriëtte A.;
    • de Wit, Marie-Claire Y.;
    • Dieleman, Gwen C.;
    • Mous, Sabine E.
    Publication type:
    Article
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    Age of diagnosis for children with chromosome 15q syndromes.

    Published in:
    Journal of Neurodevelopmental Disorders, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s11689-023-09504-x
    By:
    • Wheeler, Anne C.;
    • Gantz, Marie G.;
    • Cope, Heidi;
    • Strong, Theresa V.;
    • Bohonowych, Jessica E.;
    • Moore, Amanda;
    • Vogel-Farley, Vanessa
    Publication type:
    Article
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    Enabling endpoint development for interventional clinical trials in individuals with Angelman syndrome: a prospective, longitudinal, observational clinical study (FREESIAS).

    Published in:
    Journal of Neurodevelopmental Disorders, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s11689-023-09494-w
    By:
    • Tjeertes, Jorrit;
    • Bacino, Carlos A.;
    • Bichell, Terry Jo;
    • Bird, Lynne M.;
    • Bustamante, Mariana;
    • Crean, Rebecca;
    • Jeste, Shafali;
    • Komorowski, Robert W.;
    • Krishnan, Michelle L.;
    • Miller, Meghan T.;
    • Nobbs, David;
    • Ochoa-Lubinoff, Cesar;
    • Parkerson, Kimberly A.;
    • Rotenberg, Alexander;
    • Sadhwani, Anjali;
    • Shen, Mark D.;
    • Squassante, Lisa;
    • Tan, Wen-Hann;
    • Vincenzi, Brenda;
    • Wheeler, Anne C.
    Publication type:
    Article
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    An in vivo Cell-Based Delivery Platform for Zinc Finger Artificial Transcription Factors in Pre-clinical Animal Models.

    Published in:
    Frontiers in Molecular Neuroscience, 2022, v. 14, p. 1, doi. 10.3389/fnmol.2021.789913
    By:
    • Deng, Peter;
    • Halmai, Julian A. N. M.;
    • Beitnere, Ulrika;
    • Cameron, David;
    • Martinez, Michele L.;
    • Lee, Charles C.;
    • Waldo, Jennifer J.;
    • Thongphanh, Krista;
    • Adhikari, Anna;
    • Copping, Nycole;
    • Petkova, Stela P.;
    • Lee, Ruth D.;
    • Lock, Samantha;
    • Palomares, Miranda;
    • O'Geen, Henriette;
    • Carter, Jasmine;
    • Gonzalez, Casiana E.;
    • Buchanan, Fiona K. B.;
    • Anderson, Johnathan D.;
    • Fierro, Fernando A.
    Publication type:
    Article
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