Works matching DE "RETT syndrome"

Results: 1341

The Ketogenic Diet: An Underrecognized Therapy for Rett Syndrome.

Published in:

Journal of Child Neurology, 2025, v. 40, n. 7, p. 530, doi. 10.1177/08830738251329139

By:

Haridas, Babitha;
Bessone, Stacey;
Turner, Zahava;
Kossoff, Eric

Publication type:

Article

The interactional use of eye-gaze in children with autism spectrum disorders.

Published in:

Interaction Studies, 2014, v. 15, n. 2, p. 233, doi. 10.1075/is.15.2.12kor

By:

Korkiakangas, Terhi;
Rae, John

Publication type:

Article

Health-related quality of life and depression in Rett syndrome caregivers.

Published in:

Vojnosanitetski Pregled: Military Medical & Pharmaceutical Journal of Serbia, 2013, v. 70, n. 9, p. 842, doi. 10.2298/VSP1309842S

By:

Sarajlija, Adrijan;
Djurić, Milena;
Tepavčević, Darija Kisić

Publication type:

Article

Mutations and polymorphisms in the human methyl CpG-binding protein MECP2 (Communicated by Jurgen Horst) The Supplementary Material referred to in this article can be found at http://www.interscience.wiley.com/humanmutation/suppmat/2003/v22.html).

Published in:

Human Mutation, 2003, v. 22, n. 2, p. 107, doi. 10.1002/humu.10243

By:

Gabriel Miltenberger-Miltenyi;
Franco Laccone

Publication type:

Article

Gross rearrangements in the MECP2 gene in three patients with rett syndrome: Implications for routine diagnosis of Rett syndrome (Communicated by Haig H. Kazazian).

Published in:

Human Mutation, 2003, v. 22, n. 2, p. 116, doi. 10.1002/humu.10242

By:

E. Schollen;
E. Smeets;
E. Deflem;
J.P. Fryns;
G. Matthijs

Publication type:

Article

Gross rearrangements in the MECP2 gene in three patients with rett syndrome: Implications for routine diagnosis of Rett syndromeCommunicated by Haig H. Kazazian.

Published in:

Human Mutation, 2003, v. 22, n. 2, p. 116, doi. 10.1002/humu.10242

By:

E. Schollen;
E. Smeets;
E. Deflem;
J.P. Fryns;
G. Matthijs

Publication type:

Article

Mutations and polymorphisms in the human methyl CpG?binding protein MECP2Communicated by Jurgen HorstThe Supplementary Material referred to in this article can be found at http://www.interscience.wiley.com/humanmutation/suppmat/2003/v22.html.

Published in:

Human Mutation, 2003, v. 22, n. 2, p. 107, doi. 10.1002/humu.10243

By:

Gabriel Miltenberger?Miltenyi;
Franco Laccone

Publication type:

Article

RettBASE: The IRSA MECP2 variation databasea new mutation database in evolution (Communicated by Jaime Cuticchia).

Published in:

Human Mutation, 2003, v. 21, n. 5, p. 466, doi. 10.1002/humu.10194

By:

John Christodoulou;
Andrew Grimm;
Tony Maher

Publication type:

Article

RettBASE: The IRSA MECP2 variation database—a new mutation database in evolutionCommunicated by Jaime Cuticchia.

Published in:

Human Mutation, 2003, v. 21, n. 5, p. 466, doi. 10.1002/humu.10194

By:

John Christodoulou;
Andrew Grimm;
Tony Maher;
Bruce Bennetts

Publication type:

Article

A few special cases: scientific creativity and network dynamics in the field of rare diseases.

Published in:

2011

By:

Frigotto, M.;
Riccaboni, Massimo

Publication type:

Case Study

Assistive Communication Devices in Rett Syndrome: A Case Report and Narrative Review.

Published in:

BioMed, 2024, v. 4, n. 2, p. 146, doi. 10.3390/biomed4020012

By:

Lee, Justin;
Lee, Jessica;
Abu-Daoud, Mouath;
Al-Ajlouni, Yazan A.

Publication type:

Article

R306X Mutation in the MECP2 Gene Causes an Atypical Rett Syndrome in a Moroccan Patient: A Case Report.

Published in:

Clinical Pathology, 2022, v. 15, p. 1, doi. 10.1177/2632010X221124269

By:

Bouzroud, Wafaa;
Tazzite, Amal;
Berrada, Sarah;
Gazzaz, Bouchaïb;
Dehbi, Hind

Publication type:

Article

R306X Mutation in the MECP2 Gene Causes an Atypical Rett Syndrome in a Moroccan Patient: A Case Report.

Published in:

Clinical Pathology, 2022, v. 15, p. 1, doi. 10.1177/2632010x221124269

By:

Bouzroud, Wafaa;
Tazzite, Amal;
Berrada, Sarah;
Gazzaz, Bouchaïb;
Dehbi, Hind

Publication type:

Article

Sex-specific single cell-level transcriptomic signatures of Rett syndrome disease progression.

Published in:

Communications Biology, 2024, v. 7, n. 1, p. 1, doi. 10.1038/s42003-024-06990-0

By:

Sharifi, Osman;
Haghani, Viktoria;
Neier, Kari E.;
Fraga, Keith J.;
Korf, Ian;
Hakam, Sophia M.;
Quon, Gerald;
Johansen, Nelson;
Yasui, Dag H.;
LaSalle, Janine M.

Publication type:

Article

Rett syndrome: a complex disorder with simple roots.

Published in:

Nature Reviews Genetics, 2015, v. 16, n. 5, p. 261, doi. 10.1038/nrg3897

By:

Lyst, Matthew J.;
Bird, Adrian

Publication type:

Article

Human disease: Chromatin on the brain.

Published in:

Nature Reviews Genetics, 2010, v. 11, n. 4, p. 238, doi. 10.1038/nrg2772

By:

Muers, Mary

Publication type:

Article

Animal models: Modifying MeCP2.

Published in:

Nature Reviews Genetics, 2008, v. 9, n. 11, p. 814, doi. 10.1038/nrg2475

By:

Swami, Meera

Publication type:

Article

IN BRIEF.

Published in:: Nature Reviews Genetics, 2007, v. 8, n. 3, p. 169, doi. 10.1038/nrg2080
Publication type:: Article

Molecular genetics of Rett syndrome: when DNA methylation goes unrecognized.

Published in:

2006

By:

Bienvenu, Thierry;
Chelly, Jamel

Publication type:

Correction Notice

Molecular genetics of Rett syndrome: when DNA methylation goes unrecognized.

Published in:

Nature Reviews Genetics, 2006, v. 7, n. 6, p. 415, doi. 10.1038/nrg1878

By:

Bienvenu, Thierry;
Chelly, Jamel

Publication type:

Article

Primitive way country come look inside.

Published in:

Leonardo, 2024, v. 57, n. 2, p. 179, doi. 10.1162/leon_a_02500

By:

Stienon, Ysolde;
Tsaplina, Marina

Publication type:

Article

A day in the life of an educational psychologist.

Published in:

Assessment & Development Matters, 2018, v. 10, n. 4, p. 37, doi. 10.53841/bpsadm.2018.10.4.37

By:

Howarth, Imogen

Publication type:

Article

ANESTHESIA IN A CHILD WITH RETT SYNDROME: A CASE REPORT AND LITERATURE REVIEW.

Published in:

AANA Journal, 2001, v. 69, n. 5, p. 395

By:

Pierson, Jane;
Mayhew, James F.

Publication type:

Article

MeCP2 regulates Gdf11, a dosage-sensitive gene critical for neurological function.

Published in:

eLife, 2023, p. 1, doi. 10.7554/eLife.83806

By:

Bajikar, Sameer S.;
Anderson, Ashley G.;
Jian Zhou;
Durham, Mark A.;
Trostle, Alexander J.;
Ying-Wooi Wan;
Zhandong Liu;
Zoghbi, Huda Y.

Publication type:

Article

Ultrafast simulation of large-scale neocortical microcircuitry with biophysically realistic neurons.

Published in:

eLife, 2022, p. 1, doi. 10.7554/eLife.79535

By:

Oláh, Viktor J.;
Pedersen, Nigel P.;
Rowan, Matthew J. M.

Publication type:

Article

High expression of MeCP2 in JC virus-infected cells of progressive multifocal leukoencephalopathy brains.

Published in:

Neuropathology, 2011, v. 31, n. 1, p. 38, doi. 10.1111/j.1440-1789.2010.01122.x

By:

Shirai, Saya;
Takahashi, Kenta;
Kohsaka, Shinji;
Tsukamoto, Tetsu;
Isogai, Hiroshi;
Kudo, Shinichi;
Sawa, Hirofumi;
Nagashima, Kazuo;
Tanaka, Shinya

Publication type:

Article

Disturbance of cardiac gene expression and cardiomyocyte structure predisposes Mecp2-null mice to arrhythmias.

Published in:

Scientific Reports, 2015, p. 11204, doi. 10.1038/srep11204

By:

Hara, Munetsugu;
Takahashi, Tomoyuki;
Mitsumasu, Chiaki;
Igata, Sachiyo;
Takano, Makoto;
Minami, Tomoko;
Yasukawa, Hideo;
Okayama, Satoko;
Nakamura, Keiichiro;
Okabe, Yasunori;
Tanaka, Eiichiro;
Takemura, Genzou;
Kosai, Ken-ichiro;
Yamashita, Yushiro;
Matsuishi, Toyojiro

Publication type:

Article

Changes in the Cerebrospinal Fluid and Plasma Lipidome in Patients with Rett Syndrome.

Published in:

Metabolites (2218-1989), 2022, v. 12, n. 4, p. N.PAG, doi. 10.3390/metabo12040291

By:

Zandl-Lang, Martina;
Züllig, Thomas;
Trötzmüller, Martin;
Naegelin, Yvonne;
Abela, Lucia;
Wilken, Bernd;
Scholl-Buergi, Sabine;
Karall, Daniela;
Kappos, Ludwig;
Köfeler, Harald;
Plecko, Barbara

Publication type:

Article

Sphingolipid Metabolism Perturbations in Rett Syndrome.

Published in:

Metabolites (2218-1989), 2019, v. 9, n. 10, p. 221, doi. 10.3390/metabo9100221

By:

Cappuccio, Gerarda;
Donti, Taraka;
Pinelli, Michele;
Bernardo, Pia;
Bravaccio, Carmela;
Elsea, Sarah H.;
Brunetti-Pierri, Nicola

Publication type:

Article

Altered Bone Status in Rett Syndrome.

Published in:

Life (2075-1729), 2021, v. 11, n. 6, p. 521, doi. 10.3390/life11060521

By:

Pecorelli, Alessandra;
Cordone, Valeria;
Schiavone, Maria Lucia;
Caffarelli, Carla;
Cervellati, Carlo;
Cerbone, Gaetana;
Gonnelli, Stefano;
Hayek, Joussef;
Valacchi, Giuseppe

Publication type:

Article

Analysis of genetic characteristics in four children with atypical Rett syndrome and developmental epileptic encephalopathy caused by IQSEC2 gene variation.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2024, v. 24, n. 8, p. 674, doi. 10.3969/j.issn.1672-6731.2024.08.012

By:

LIN Li;
CUI Zhen-zhen;
HE Fan;
ZHAO Xiao-ling;
JIN Dan-qun;
YANG Bin

Publication type:

Article

Zebrafish (<italic>Danio rerio</italic>, Hamilton‐Buchanan, 1822) as a model to study bone diseases associated with Rett syndrome.

Published in:

Journal of Applied Ichthyology, 2018, v. 34, n. 2, p. 489, doi. 10.1111/jai.13667

By:

Vitorino, M.;
Conceição, N.;
Cancela, M. L.

Publication type:

Article

Neuronal Avalanches to Study the Coordination of Large-Scale Brain Activity: Application to Rett Syndrome.

Published in:

Frontiers in Psychology, 2020, v. 11, p. N.PAG, doi. 10.3389/fpsyg.2020.550749

By:

Rucco, Rosaria;
Bernardo, Pia;
Lardone, Anna;
Baselice, Fabio;
Pesoli, Matteo;
Polverino, Arianna;
Bravaccio, Carmela;
Granata, Carmine;
Mandolesi, Laura;
Sorrentino, Giuseppe;
Sorrentino, Pierpaolo

Publication type:

Article

The epigenetic modification of DNA methylation in neurological diseases.

Published in:

Frontiers in Immunology, 2024, p. 1, doi. 10.3389/fimmu.2024.1401962

By:

Linke Li;
Rui Chen;
Hui Zhang;
Jinsheng Li;
Hao Huang;
Jie Weng;
Huan Tan;
Tailin Guo;
Mengyuan Wang;
Jiang Xie

Publication type:

Article

The epigenetic modification of DNA methylation in neurological diseases.

Published in:

Frontiers in Immunology, 2024, p. 1, doi. 10.3389/fimmu.2024.1401962

By:

Linke Li;
Rui Chen;
Hui Zhang;
Jinsheng Li;
Hao Huang;
Jie Weng;
Huan Tan;
Tailin Guo;
Mengyuan Wang;
Jiang Xie

Publication type:

Article

A Streamlined Approach to Prader-Willi and Angelman Syndrome Molecular Diagnostics.

Published in:

Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2021.608889

By:

Strom, Samuel P.;
Hossain, Waheeda A.;
Grigorian, Melina;
Li, Mickey;
Fierro, Joseph;
Scaringe, William;
Yen, Hai-Yun;
Teguh, Mirandy;
Liu, Joanna;
Gao, Harry;
Butler, Merlin G.

Publication type:

Article

The Molecular Functions of MeCP2 in Rett Syndrome Pathology.

Published in:

Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2021.624290

By:

Sharifi, Osman;
Yasui, Dag H.

Publication type:

Article

Detection of Rare Methyl-CpG Binding Protein 2 Gene Missense Mutations in Patients With Schizophrenia.

Published in:

Frontiers in Genetics, 2020, v. 11, p. 1, doi. 10.3389/fgene.2020.00476

By:

Chen, Chia-Hsiang;
Cheng, Min-Chih;
Huang, Ailing;
Hu, Tsung-Ming;
Ping, Lieh-Yung;
Chang, Yu-Syuan

Publication type:

Article

Occupational exposure of pregnant women to refined oil and infant wheezing: Japan environment and children's study findings.

Published in:

Clinical & Experimental Allergy, 2023, v. 53, n. 12, p. 1302, doi. 10.1111/cea.14404

By:

Kawamura, Masaru;
Shimono, Masayuki;
Suga, Reiko;
Yoshino, Kiyoshi;
Fujino, Yoshihisa;
Tsuji, Mayumi;
Sanefuji, Masafumi;
Ohga, Shouichi;
Hoshina, Takayuki;
Kusuhara, Koichi

Publication type:

Article

Exploring gastrointestinal health in MECP2 duplication syndrome.

Published in:

Neurogastroenterology & Motility, 2023, v. 35, n. 8, p. 1, doi. 10.1111/nmo.14601

By:

Pehlivan, Davut;
Ak, Muharrem;
Glaze, Daniel G.;
Suter, Bernhard;
Motil, Kathleen J.

Publication type:

Article

Child and adolescent psychiatric genetics.

Published in:

European Child & Adolescent Psychiatry, 2010, v. 19, n. 3, p. 259, doi. 10.1007/s00787-010-0091-y

By:

Hebebrand, Johannes;
Scherag, Andre;
Schimmelmann, Benno G.;
Hinney, Anke

Publication type:

Article

MECP2 mutation screening in Swedish classical Rett syndrome females.

Published in:

European Child & Adolescent Psychiatry, 2001, v. 10, n. 2, p. 117, doi. 10.1007/s007870170034

By:

Erlandson, A.;
Hallberg, B.;
Hagberg, B.;
Wahlström, J.;
Martinsson, T.

Publication type:

Article

Assessing the developmental level in Rett syndrome: an alternative approach?

Published in:

European Child & Adolescent Psychiatry, 2000, v. 9, n. 3, p. 227, doi. 10.1007/s007870070047

By:

Demeter, K.

Publication type:

Article

Rett syndrome, EEG and the motor cortex as a model for better understanding of attention deficit hyperactivity disorder (ADHD).

Published in:

European Child & Adolescent Psychiatry, 1998, v. 7, n. 2, p. 69, doi. 10.1007/s007870050049

By:

Niedermeyer, E.;
Naidu, S. B.

Publication type:

Article

Lamotrigine in Rett syndrome: Treatment experience from a pilot study.

Published in:

European Child & Adolescent Psychiatry, 1998, v. 7, n. 1, p. 49, doi. 10.1007/s007870050045

By:

Stenbom, Y.;
Tonnby, B.;
Hagberg, B.

Publication type:

Article

Down syndrome or Rett syndrome in the family: Parental reflections on sibling experience.

Published in:

Journal of Intellectual & Developmental Disability, 2024, v. 49, n. 1, p. 11, doi. 10.3109/13668250.2023.2225353

By:

Gray, Caitlin;
Leonard, Helen;
Wong, Kingsley;
Reed, Sally;
Schmidt, Kate;
Skoss, Rachel;
Li, Jianghong;
Salt, Alison;
Bourke, Jenny;
Glasson, Emma J.

Publication type:

Article

Community participation: Conversations with parent-carers of young women with Rett syndrome.

Published in:

Journal of Intellectual & Developmental Disability, 2014, v. 39, n. 3, p. 243, doi. 10.3109/13668250.2014.909919

By:

Walker, Ellen M.;
Crawford, Frances;
Leonard, Helen

Publication type:

Article

The experiences of mothers of young adults with an intellectual disability transitioning from secondary school to adult life.

Published in:

Journal of Intellectual & Developmental Disability, 2013, v. 38, n. 2, p. 149, doi. 10.3109/13668250.2013.789099

By:

Dyke, Paula;
Bourke, Jenny;
Llewellyn, Gwynnyth;
Leonard, Helen

Publication type:

Article

The use of assistive technology for symbol identification by children with Rett syndrome.

Published in:

Journal of Intellectual & Developmental Disability, 2002, v. 27, n. 1, p. 57, doi. 10.1080/13668250120119626-1

By:

Hetzroni, Orit;
Rubin, Corinne;
Konkol, Orna

Publication type:

Article

Modifying adult interactional style as positive behavioural intervention for a child with Rett syndrome(n1).

Published in:

Journal of Intellectual & Developmental Disability, 1999, v. 24, n. 3, p. 191, doi. 10.1080/13668259900033981

By:

Evans, Ian M.;
Meyer, Luanna H.

Publication type:

Article