Works matching DE "SMITH-Magenis syndrome"

Results: 76

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

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

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

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

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

Dietary Regimens Modify Early Onset of Obesity in Mice Haploinsufficient for <i>Rai1</i>.

Published in:

PLoS ONE, 2014, v. 9, n. 8, p. 1, doi. 10.1371/journal.pone.0105077

By:

Alaimo, Joseph T.;
Hahn, Natalie H.;
Mullegama, Sureni V.;
Elsea, Sarah H.

Publication type:

Article

RAI1 Transcription Factor Activity Is Impaired in Mutants Associated with Smith-Magenis Syndrome.

Published in:

PLoS ONE, 2012, v. 7, n. 9, p. 1, doi. 10.1371/journal.pone.0045155

By:

Carmona-Mora, Paulina;
Canales, Cesar P.;
Cao, Lei;
Perez, Irene C.;
Srivastava, Anand K.;
Young, Juan I.;
Walz, Katherina;
Landsberger, Nicoletta

Publication type:

Article

Molecular Analysis of the Retinoic Acid Induced 1 Gene (RAI1) in Patients with Suspected Smith-Magenis Syndrome without the 17p11.2 Deletion.

Published in:

PLoS ONE, 2011, v. 6, n. 8, p. 1, doi. 10.1371/journal.pone.0022861

By:

Vilboux, Thierry;
Ciccone, Carla;
Blancato, Jan K.;
Cox, Gerald F.;
Deshpande, Charu;
Introne, Wendy J.;
Gahl, William A.;
Smith, Ann C. M.;
Huizing, Marjan

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

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

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

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

A - Dysmorphology and Multiple Anomalies.

Published in:: Clinical Genetics, 2010, v. 78, p. 17, doi. 10.1111/j.1399-0004.2010.01558.x
Publication type:: 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

Methylphenidate for attention-deficit/hyperactivity disorder in patients with Smith-Magenis syndrome: protocol for a series of N-of-1 trials.

Published in:

2021

By:

Müller, A. R.;
Zinkstok, J. R.;
Rommelse, N. N. J.;
van de Ven, P. M.;
Roes, K. C. B.;
Wijburg, F. A.;
de Rooij-Askes, E.;
Linders, C.;
Boot, E.;
van Eeghen, A. M.

Publication type:

journal 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

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

Behavioral disturbance and treatment strategies in Smith-Magenis syndrome.

Published in:

Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0330-x

By:

Poisson, Alice;
Nicolas, Alain;
Cochat, Pierre;
Sanlaville, Damien;
Rigard, Caroline;
de Leersnyder, Hélène;
Franco, Patricia;
Des Portes, Vincent;
Edery, Patrick;
Demily, Caroline

Publication type:

Article

Behavioral disturbance and treatment strategies in Smith-Magenis syndrome.

Published in:

Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0330-x

By:

Poisson, Alice;
Nicolas, Alain;
Cochat, Pierre;
Sanlaville, Damien;
Rigard, Caroline;
de Leersnyder, Hélène;
Franco, Patricia;
Des Portes, Vincent;
Edery, Patrick;
Demily, Caroline

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

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

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

IN BRIEF.

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

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

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

Mikrodelesyon sendromları.

Published in:

Cocuk Sagligi ve Hastaliklari Dergisi, 2012, v. 55, n. 1, p. 42

By:

Ütine, Gülen Eda;
Şimşek-Kiper, Pelin Özlem;
Boduroğlu, Koray

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

Smith-Magenis Syndrome and Social Security Administration's Compassionate Allowances Initiative: An Evaluative Review of the Literature.

Published in:

2016

By:

Burke, Shanna L.;
Maramaldi, Peter

Publication type:

journal article

Prognostic and therapeutic stratification in CLL: focus on 17p deletion and p53 mutation.

Published in:

Annals of Hematology, 2018, v. 97, n. 12, p. 2269, doi. 10.1007/s00277-018-3503-6

By:

Buccheri, Valeria;
Barreto, Wolney Gois;
Fogliatto, Laura Maria;
Capra, Marcelo;
Marchiani, Mariana;
Rocha, Vanderson

Publication type:

Article

Application of an improved targeted next generation sequencing method to diagnose non-syndromic mental retardation in one step: A case report.

Published in:

Molecular Medicine Reports, 2018, v. 18, n. 1, p. 981, doi. 10.3892/mmr.2018.9031

By:

Wang, Weipeng;
Mao, Bing;
Wei, Xiaoming;
Yin, Dan;
Li, Hui;
Mao, Liangwei;
Guo, Xueqin;
Sun, Yan;
Yang, Yun

Publication type:

Article

Smith-Magenis syndrome in monozygotic twin fetuses presenting with discordant phenotypes and uteroplacental insufficiency.

Published in:

Molecular Medicine Reports, 2016, v. 13, n. 1, p. 347, doi. 10.3892/mmr.2015.4538

By:

YI ZHOU;
YINGJUN XIE;
YUNXIAO ZHU;
JIANZHU WU;
MEIJIAO SHANG;
BAOJIANG CHEN;
QUN FANG

Publication type:

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

Stress and Well-Being Among Parents of Children with Potocki-Lupski Syndrome.

Published in:

Journal of Genetic Counseling, 2013, v. 22, n. 5, p. 633, doi. 10.1007/s10897-013-9602-6

By:

Carter, Rebecca;
Raia, Marianna;
Ewing-Cobbs, Linda;
Gambello, Michael;
Hashmi, S.;
Peterson, Susan;
Robbins-Furman, Patricia;
Potocki, Lorraine

Publication type:

Article

My Days of Counting Are Numbered.

Published in:

Journal of Genetic Counseling, 2012, v. 21, n. 6, p. 791, doi. 10.1007/s10897-012-9529-3

By:

Iannuzzi, Jennifer

Publication type:

Article

Caring for the Caregivers: An Investigation of Factors Related to Well-Being Among Parents Caring for a Child with Smith-Magenis Syndrome.

Published in:

Journal of Genetic Counseling, 2010, v. 19, n. 2, p. 187, doi. 10.1007/s10897-009-9273-5

By:

Foster, Rebecca;
Kozachek, Stephanie;
Stern, Marilyn;
Elsea, Sarah

Publication type:

Article

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

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

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

A functional role for structural variation in metabolism.

Published in:

Adipocyte, 2013, v. 2, n. 1, p. 55, doi. 10.4161/adip.22031

By:

Lacaria, Melanie;
Gu, Wenli;
Lupski, James R.

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

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

Functional analysis and treatment of problem behavior related to mands for rearrangement.

Published in:

Journal of Applied Behavior Analysis (John Wiley & Sons, Inc.), 2018, v. 51, n. 1, p. 158, doi. 10.1002/jaba.437

By:

Torres‐Viso, Mariana;
Strohmeier, Craig W.;
Zarcone, Jennifer R.

Publication type:

Article