Works matching DE "SMITH-Magenis syndrome"

Results: 75

A JOURNEY THROUGH COMPLEXITIES: MANAGING GENETIC SYNDROMES, CONGENITAL HEART DISEASE, SUPRARENAL INSUFFICIENCY AND LARYNGOMALACIA IN PEDIATRIC MEDICINE.

Published in:

Acta Marisiensis. Seria Medica, 2024, v. 70, p. 313

By:

Furtună, Olga;
Pântea, Cezar;
Toma, Daniela

Publication type:

Article

IN BRIEF.

Published in:: Nature Reviews Genetics, 2007, v. 8, n. 3, p. 167, doi. 10.1038/nrg2079
Publication type:: Article

Rare health conditions 8: Smith-Magenis syndrome, anorchia and Harlequins ichthyosis.

Published in:

British Journal of Healthcare Assistants, 2018, v. 12, n. 1, p. 10, doi. 10.12968/bjha.2018.12.1.10

By:

Barber, Chris

Publication type:

Article

Foot Health and Mobility in People With Intellectual Disabilities.

Published in:

Journal of Policy & Practice in Intellectual Disabilities, 2015, v. 12, n. 1, p. 42, doi. 10.1111/jppi.12105

By:

Courtenay, Ken;
Murray, Anita

Publication type:

Article

Behavior Phenotype: A Synthesis of Research to Understand Age-Related Change in Behavior in Several Syndromes.

Published in:

Journal of Policy & Practice in Intellectual Disabilities, 2014, v. 11, n. 1, p. 43, doi. 10.1111/jppi.12066

By:

Couzens, Donna

Publication type:

Article

Analysis of the Sensory Profile in Children with Smith-Magenis Syndrome.

Published in:

Physical & Occupational Therapy in Pediatrics, 2012, v. 32, n. 1, p. 48, doi. 10.3109/01942638.2011.572152

By:

Hildenbrand, Hanna L.;
Smith, Ann C. M.

Publication type:

Article

Teaching delay tolerance to a child with Smith‐Magenis syndrome in a classroom using a simplified approach.

Published in:

Behavioral Interventions, 2024, v. 39, n. 4, p. 1, doi. 10.1002/bin.2063

By:

DeFreitas, Mariah;
Womack, Tyler;
Choy, Tricia;
Ricciardi, Joseph N.

Publication type:

Article

RAI1 gene mutations: mechanisms of Smith-Magenis syndrome.

Published in:

Application of Clinical Genetics, 2017, v. 10, p. 85, doi. 10.2147/TACG.S128455

By:

Falco, Mariateresa;
Amabile, Sonia;
Acquaviva, Fabio

Publication type:

Article

Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome.

Published in:

2019

By:

Vetrini, Francesco;
McKee, Shane;
Rosenfeld, Jill A.;
Suri, Mohnish;
Lewis, Andrea M.;
Nugent, Kimberly Margaret;
Roeder, Elizabeth;
Littlejohn, Rebecca O.;
Holder, Sue;
Zhu, Wenmiao;
Alaimo, Joseph T.;
Graham, Brett;
Harris, Jill M.;
Gibson, James B.;
Pastore, Matthew;
McBride, Kim L.;
Komara, Makanko;
Al-Gazali, Lihadh;
Al Shamsi, Aisha;
Fanning, Elizabeth A.

Publication type:

Correction Notice

Molecular basis for phenotypic similarity of genetic disorders.

Published in:

Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0641-y

By:

Pounraja, Vijay Kumar;
Girirajan, Santhosh

Publication type:

Article

Overdiagnosis of Dementia in Young Patients - A Nationwide Register-Based Study.

Published in:

Dementia & Geriatric Cognitive Disorders, 2013, v. 34, n. 5/6, p. 292, doi. 10.1159/000345485

By:

Salem, L.C.;
Andersen, B.B.;
Nielsen, T.R.;
Stokholm, J.;
Jørgensen, M.B.;
Rasmussen, M.H.;
Waldemar, G.

Publication type:

Article

A Case of Smith-Magenis Syndrome with Multiple Organ Malformations.

Published in:

Neonatal Medicine, 2017, v. 24, n. 1, p. 49, doi. 10.5385/nm.2017.24.1.49

By:

Sung Eun Kim;
Geonju Kim;
Jin Soon Suh;
Juyoung Lee

Publication type:

Article

Design, Construction and Validation of Targeted BAC Array-Based CGH Test for Detecting the Most Commons Chromosomal Abnormalities.

Published in:

Genomics Insights, 2010, n. 3, p. 9

By:

Gambardella, Stefano;
Ciabattoni, Erika;
Motta, Francesca;
Stoico, Giusy;
Gullotta, Francesca;
Biancolella, Michela;
Nardone, Anna Maria;
Novelli, Antonio;
Brunetti, Ercole;
Bernardini, Laura;
Novelli, Giuseppe

Publication type:

Article

Using a Functional Analysis Followed by Differential Reinforcement and Extinction to Reduce Challenging Behaviors in Children With Smith-Magenis Syndrome.

Published in:

2018

By:

Hodnett, Jennifer;
Scheithauer, Mindy;
Call, Nathan A.;
Mevers, Joanna Lomas;
Miller, Sarah J.

Publication type:

journal article

The Importance of School Leadership Support when Working with Students with Smith-Magenis Syndrome – A Q Methodology Study.

Published in:

International Journal of Disability, Development & Education, 2023, v. 70, n. 3, p. 340, doi. 10.1080/1034912X.2021.1888893

By:

Nag, Heidi;
Nærland, Terje;
Øverland, Klara

Publication type:

Article

School Staff's Experiences and Coping Related to the Challenging Behaviour of Children with Smith-Magenis Syndrome in Schools: A Q Methodological Study.

Published in:

International Journal of Disability, Development & Education, 2022, v. 69, n. 5, p. 1473, doi. 10.1080/1034912X.2020.1780199

By:

Nag, Heidi;
Øverland, Klara;
Nærland, Terje

Publication type:

Article

Multiple Impacted Urethral Metallic Needles and Screws (Foreign Bodies) Associated with Polyembolokoilamania.

Published in:

Indian Journal of Surgery, 2015, v. 77, p. 106, doi. 10.1007/s12262-014-1181-8

By:

Singh, Iqbal;
Pal, Ajay;
Gautam, Lokesh

Publication type:

Article

Syndromic and Monogenic Obesity: New Opportunities Due to Genetic-Based Pharmacological Treatment.

Published in:

Children, 2024, v. 11, n. 2, p. 153, doi. 10.3390/children11020153

By:

Kalinderi, Kallirhoe;
Goula, Vasiliki;
Sapountzi, Evdoxia;
Tsinopoulou, Vasiliki Rengina;
Fidani, Liana

Publication type:

Article

Metabolic Profile of Patients with Smith-Magenis Syndrome: An Observational Study with Literature Review.

Published in:

Children, 2023, v. 10, n. 9, p. 1451, doi. 10.3390/children10091451

By:

Cipolla, Clelia;
Sessa, Linda;
Rotunno, Giulia;
Sodero, Giorgio;
Proli, Francesco;
Veredice, Chiara;
Giorgio, Valentina;
Leoni, Chiara;
Rosati, Jessica;
Limongelli, Domenico;
Kuczynska, Eliza;
Sforza, Elisabetta;
Trevisan, Valentina;
Rigante, Donato;
Zampino, Giuseppe;
Onesimo, Roberta

Publication type:

Article

A Rare De Novo RAI1 Gene Mutation Affecting BDNF-Enhancer-Driven Transcription Activity Associated with Autism and Atypical Smith-Magenis Syndrome Presentation.

Published in:

Biology (2079-7737), 2018, v. 7, n. 2, p. 31, doi. 10.3390/biology7020031

By:

Abad, Clemer;
Cook, Melissa M.;
Cao, Lei;
Jones, Julie R.;
Rao, Nalini R.;
Dukes-Rimsky, Lynn;
Pauly, Rini;
Skinner, Cindy;
Wang, Yunsheng;
Luo, Feng;
Stevenson, Roger E.;
Walz, Katherina;
Srivastava, Anand K.

Publication type:

Article

Dermatologic Features of Smith-Magenis Syndrome.

Published in:

Pediatric Dermatology, 2015, v. 32, n. 3, p. 337, doi. 10.1111/pde.12517

By:

Guérin‐Moreau, Morgane;
Colin, Estelle;
Nguyen, Sylvie;
Andrieux, Joris;
Leersnyder, Hélène;
Bonneau, Dominique;
Martin, Ludovic

Publication type:

Article

Phenotypic Consequences of Copy Number Variation: Insights from Smith-Magenis and Potocki-Lupski Syndrome Mouse Models.

Published in:

PLoS Biology, 2010, v. 8, n. 11, p. 1, doi. 10.1371/journal.pbio.1000543

By:

Ricard, Guénola;
Molina, Jessica;
Chrast, Jacqueline;
Wenli Gu;
Gheldof, Nele;
Pradervand, Sylvain;
Schütz, Frédéric;
Young, Juan I.;
Lupski, James R.;
Reymond, Alexandre;
Walz, Katherina

Publication type:

Article

Effects of Behavior Problems, Family Functioning, and Family Coping on Parent Stress in Families with a Child with Smith-Magenis Syndrome.

Published in:

Journal of Developmental & Physical Disabilities, 2014, v. 26, n. 4, p. 391, doi. 10.1007/s10882-014-9367-3

By:

Morse, Rebecca;
Rojahn, Johannes;
Smith, Ann

Publication type:

Article

Educational and Occupational Aspirations Among Mothers Caring for a Child with Smith-Magenis Syndrome.

Published in:

Journal of Developmental & Physical Disabilities, 2011, v. 23, n. 6, p. 501, doi. 10.1007/s10882-011-9241-5

By:

Foster, Rebecca;
Kanotra, Surbhi;
Stern, Marilyn;
Elsea, Sarah

Publication type:

Article

Funcionamiento cognitivo general y habilidades psicolingüísticas en niños con síndrome de Smith-Magenis.

Published in:

Psicothema, 2011, v. 23, n. 4, p. 725

By:

Heinze, Elena Garayzábal;
Villaverde, María Lens;
López, Esther Moruno;
Magro, Tatiana Conde;
Moura, Luis Felipe;
Fernández, Montserrat;
Sampaio, Adriana

Publication type:

Article

Differential gene expression of 36-kDa microfibril-associated glycoprotein (MAGP-36/MFAP4) in rat organs.

Published in:

Cell & Tissue Research, 2008, v. 332, n. 2, p. 271, doi. 10.1007/s00441-008-0587-7

By:

Toyoshima, Tetsuhiko;
Ishida, Tetsuya;
Nishi, Nozomu;
Kobayashi, Ryoji;
Nakamura, Takehiro;
Itano, Toshifumi

Publication type:

Article

Rai1 frees mice from the repression of active wake behaviors by light.

Published in:

eLife, 2017, p. 1, doi. 10.7554/eLife.23292

By:

Diessler, Shanaz;
Kostic, Corinne;
Arsenijevic, Yvan;
Aki Kawasaki;
Franken, Paul

Publication type:

Article

The behavioural phenotype of Smith–Magenis syndrome: evidence for a gene–environment interaction.

Published in:

Journal of Intellectual Disability Research, 2008, v. 52, n. 10, p. 830, doi. 10.1111/j.1365-2788.2008.01066.x

By:

Taylor, L.;
Oliver, C.

Publication type:

Article

An individual with Gilles de la Tourette syndrome and Smith–Magenis microdeletion syndrome: is chromosome 17p11.2 a candidate region for Tourette syndrome putative susceptibility genes?

Published in:

Journal of Intellectual Disability Research, 2007, v. 51, n. 8, p. 620, doi. 10.1111/j.1365-2788.2006.00943.x

By:

Shelley, B. P.;
Robertson, M. M.;
Turk, J.

Publication type:

Article

Stroke after Cardiac Surgery in a Patient with Smith-Magenis Syndrome.

Published in:

Texas Heart Institute Journal, 2007, v. 34, n. 2, p. 247

By:

Chaudhry, Alyas P.;
Schwartz, Carl;
Singh, Arun K.

Publication type:

Article

MBD5 haploinsufficiency is associated with sleep disturbance and disrupts circadian pathways common to Smith-Magenis and fragile X syndromes.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 6, p. 781, doi. 10.1038/ejhg.2014.200

By:

Mullegama, Sureni V;
Pugliesi, Loren;
Burns, Brooke;
Shah, Zalak;
Tahir, Raiha;
Gu, Yanghong;
Nelson, David L;
Elsea, Sarah H

Publication type:

Article

Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 2, p. 148, doi. 10.1038/ejhg.2011.167

By:

Vieira, Gustavo H;
Rodriguez, Jayson D;
Carmona-Mora, Paulina;
Cao, Lei;
Gamba, Bruno F;
Carvalho, Daniel R;
de Rezende Duarte, Andréa;
Santos, Suely R;
de Souza, Deise H;
DuPont, Barbara R;
Walz, Katherina;
Moretti-Ferreira, Danilo;
Srivastava, Anand K

Publication type:

Article

How much is too much? Phenotypic consequences of Rai1 overexpression in mice.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 8, p. 941, doi. 10.1038/ejhg.2008.21

By:

Girirajan, Santhosh;
Patel, Nisha;
Slager, Rebecca E;
Tokarz, Mary E;
Bucan, Maja;
Wiley, Jenny L;
Elsea, Sarah H

Publication type:

Article

Smith–Magenis syndrome.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 4, p. 412, doi. 10.1038/sj.ejhg.5202009

By:

Elsea, Sarah H.;
Girirajan, Santhosh

Publication type:

Article

Composite Sleep Problems Observed Across Smith–Magenis Syndrome, MBD5-Associated Neurodevelopmental Disorder, Pitt–Hopkins Syndrome, and ASD.

Published in:

Journal of Autism & Developmental Disorders, 2021, v. 51, n. 6, p. 1852, doi. 10.1007/s10803-020-04666-2

By:

Gandhi, Anusha;
Zhou, Dihong;
Alaimo, Joseph;
Chon, Edwin;
Fountain, Michael D.;
Elsea, Sarah H.

Publication type:

Article

Brief Report: Contrasting Profiles of Everyday Executive Functioning in Smith-Magenis Syndrome and Down Syndrome.

Published in:

2017

By:

Wilde, Lucy;
Oliver, Chris

Publication type:

Report

Differences in Social Motivation in Children with Smith-Magenis Syndrome and Down Syndrome.

Published in:

Journal of Autism & Developmental Disorders, 2016, v. 46, n. 6, p. 2148, doi. 10.1007/s10803-016-2743-3

By:

Wilde, Lucy;
Mitchell, Anna;
Oliver, Chris

Publication type:

Article

An Indirect Examination of the Function of Problem Behavior Associated with Fragile X Syndrome and Smith-Magenis Syndrome.

Published in:

Journal of Autism & Developmental Disorders, 2012, v. 42, n. 2, p. 201, doi. 10.1007/s10803-011-1229-6

By:

Langthorne, Paul;
McGill, Peter

Publication type:

Article

Adaptive and Maladaptive Behavior in Children with Smith-Magenis Syndrome.

Published in:

Journal of Autism & Developmental Disorders, 2006, v. 36, n. 4, p. 541, doi. 10.1007/s10803-006-0093-2

By:

Martin, Staci C.;
Wolters, Pamela L.;
Smith, Ann C. M.

Publication type:

Article

Copy number loss upstream of RAI1 uncovers gene expression regulatory region that may impact Potocki-Lupski syndrome diagnosis.

Published in:

Molecular Cytogenetics (17558166), 2015, v. 8, p. 1, doi. 10.1186/s13039-015-0179-7

By:

Alaimo, Joseph T.;
Mullegama, Sureni V.;
Thomas, Mary Ann;
Elsea, Sarah H.

Publication type:

Article

Smith-Magenis Syndrome With West Syndrome in a 5-Year-Old Girl: A Long-Term Follow-Up Study.

Published in:

Journal of Child Neurology, 2009, v. 24, n. 7, p. 868, doi. 10.1177/0883073808330186

By:

Hino-Fukuyo, Naomi;
Haginoya, Kazuhiro;
Uematsu, Mitsugu;
Nakayama, Tojo;
Kikuchi, Atsuo;
Kure, Shigeo;
Kamada, Fumiaki;
Abe, Yu;
Arai, Natsuko;
Togashi, Noriko;
Onuma, Akira;
Tsuchiya, Shigeru

Publication type:

Article

Statement of Correction.

Published in:: 2009
Publication type:: Correction Notice

Epilepsy and Chromosomal Rearrangements in Smith-Magenis Syndrome [del(17)(p11.2p11.2)].

Published in:

Journal of Child Neurology, 2006, v. 21, n. 2, p. 93, doi. 10.1177/08830738060210021201

By:

Goldman, Alica M.;
Potocki, Lorraine;
Walz, Katherina;
Lynch, Jennifer K.;
Glaze, Daniel G.;
Lupski, James R.;
Noebels, Jeffrey L.

Publication type:

Article

Early behavioural manifestation of Smith-Magenis syndrome (del 17p11.2) in a 4-month-old boy.

Published in:

Developmental Neurorehabilitation, 2012, v. 15, n. 4, p. 313, doi. 10.3109/17518423.2011.654281

By:

Einspieler, Christa;
Hirota, Hiroyo;
Yuge, Mariko;
Dejima, Sunao;
Marschik, Peter B.

Publication type:

Article

Vascular Ring and Ventricular Septal Defect in a Premature Baby with Smith--Magenis Syndrome.

Published in:

Journal of Clinical Neonatology, 2018, v. 7, n. 1, p. 54, doi. 10.4103/jcn.JCN_72_17

By:

Shee, Anutosh;
Nayan-Cruz, Joyce

Publication type:

Article

Surgical treatment of scoliosis in Smith-Magenis syndrome: a case report.

Published in:

2010

By:

Tsirikos, Athanasios I.;
Baker, Alexander D. L.;
McClean, Claire;
Baker, Alexander Dl

Publication type:

journal article

17p11.2p12 triplication and del(17)q11.2q12 in a severely affected child with dup(17)p11.2p12 syndrome.

Published in:

Clinical Genetics, 2007, v. 72, n. 1, p. 47, doi. 10.1111/j.1399-0004.2007.00831.x

By:

Girirajan, S.;
Williams, S. R.;
Garbern, J. Y.;
Nowak, N.;
Hatchwell, E.;
Elsea, S. H.

Publication type:

Article

Functional and cellular characterization of human Retinoic Acid Induced 1 (RAI1) mutations associated with Smith-Magenis Syndrome.

Published in:

BMC Molecular Biology, 2010, v. 11, p. 63, doi. 10.1186/1471-2199-11-63

By:

Carmona-Mora, Paulina;
Encina, Carolina A.;
Canales, Cesar P.;
Lei Cao;
Molina, Jessica;
Kairath, Pamela;
Young, Juan I.;
Walz, Katherina

Publication type:

Article

Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literature.

Published in:

BMC Medical Genetics, 2010, v. 11, p. 142, doi. 10.1186/1471-2350-11-142

By:

Truong, Hoa T.;
Dudding, Tracy;
Blanchard, Christopher L.;
Elsea, Sarah H.

Publication type:

Article

Rai1 duplication causes physical and behavioral phenotypes in a mouse model of dup(17)(p11.2p11.2).

Published in:

2006

By:

Walz, Katherina;
Paylor, Richard;
Jiong Yan;
Weimin Bi;
Lupski, James R.;
Yan, Jiong;
Bi, Weimin

Publication type:

journal article