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Best matches for smith magenis syndrome:

Smith-Magenis syndrome. De Leersnyder H et al. Handb Clin Neurol. (2013)

Smith-Magenis syndrome and its circadian influence on development, behavior, and obesity - own experience. Chen L et al. Dev Period Med. (2015)

Behavioral disturbance and treatment strategies in Smith-Magenis syndrome. Poisson A et al. Orphanet J Rare Dis. (2015)

Search results

Items: 1 to 20 of 437

1.

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

Abad C, Cook MM, Cao L, Jones JR, Rao NR, Dukes-Rimsky L, Pauly R, Skinner C, Wang Y, Luo F, Stevenson RE, Walz K, Srivastava AK.

Biology (Basel). 2018 May 24;7(2). pii: E31. doi: 10.3390/biology7020031.

2.

Overview of Social Cognitive Dysfunctions in Rare Developmental Syndromes With Psychiatric Phenotype.

Morel A, Peyroux E, Leleu A, Favre E, Franck N, Demily C.

Front Pediatr. 2018 May 3;6:102. doi: 10.3389/fped.2018.00102. eCollection 2018. Review.

3.

An Update on Common Chromosome Microdeletion and Microduplication Syndromes.

Goldenberg P.

Pediatr Ann. 2018 May 1;47(5):e198-e203. doi: 10.3928/19382359-20180419-01. Review.

PMID:
29750287
4.

An estimation of the prevalence of genomic disorders using chromosomal microarray data.

Gillentine MA, Lupo PJ, Stankiewicz P, Schaaf CP.

J Hum Genet. 2018 Jul;63(7):795-801. doi: 10.1038/s10038-018-0451-x. Epub 2018 Apr 24.

PMID:
29691480
5.

Production and characterization of CSSI003 (2961) human induced pluripotent stem cells (iPSCs) carrying a novel puntiform mutation in RAI1 gene, Causative of Smith-Magenis syndrome.

Altieri F, Turco EM, Vinci E, Torres B, Ferrari D, De Jaco A, Mazzoccoli G, Lamorte G, Nardone A, Della Monica M, Bernardini L, Vescovi AL, Rosati J.

Stem Cell Res. 2018 Apr;28:153-156. doi: 10.1016/j.scr.2018.02.016. Epub 2018 Feb 21.

6.
7.

Melanopsin System Dysfunction in Smith-Magenis Syndrome Patients.

Barboni MTS, Bueno C, Nagy BV, Maia PL, Vidal KSM, Alves RC, Reiter RJ, do Amaral FG, Cipolla-Neto J, Ventura DF.

Invest Ophthalmol Vis Sci. 2018 Jan 1;59(1):362-369. doi: 10.1167/iovs.17-22612.

PMID:
29346496
8.

The behavioural phenotype of Potocki-Lupski syndrome: a cross-syndrome comparison.

Bissell S, Wilde L, Richards C, Moss J, Oliver C.

J Neurodev Disord. 2018 Jan 10;10(1):2. doi: 10.1186/s11689-017-9221-x.

9.

Reversed gender ratio of autism spectrum disorder in Smith-Magenis syndrome.

Nag HE, Nordgren A, Anderlid BM, Nærland T.

Mol Autism. 2018 Jan 8;9:1. doi: 10.1186/s13229-017-0184-2. eCollection 2018.

10.

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

Torres-Viso M, Strohmeier CW, Zarcone JR.

J Appl Behav Anal. 2018 Jan;51(1):158-165. doi: 10.1002/jaba.437. Epub 2018 Jan 10.

PMID:
29318608
12.

Application of the BACs-on-Beads™ assay for rapid prenatal detection application of BoBs™ for PND of aneuploidies and microdeletions.

Huang H, Zhang M, Wang Y, Lin N, He D, Chen M, Chen L, Lin Y, Xu L.

Mol Reprod Dev. 2018 Feb;85(2):146-154. doi: 10.1002/mrd.22945. Epub 2018 Jan 17.

PMID:
29247566
13.

Safety profiles of novel agent therapies in CLL.

Ahn IE, Davids MS.

Hematology Am Soc Hematol Educ Program. 2017 Dec 8;2017(1):354-357. doi: 10.1182/asheducation-2017.1.354. Review.

PMID:
29222278
14.

How should we sequence and combine novel therapies in CLL?

Davids MS.

Hematology Am Soc Hematol Educ Program. 2017 Dec 8;2017(1):346-353. doi: 10.1182/asheducation-2017.1.346. Review.

PMID:
29222277
15.

RAI1 gene mutations: mechanisms of Smith-Magenis syndrome.

Falco M, Amabile S, Acquaviva F.

Appl Clin Genet. 2017 Nov 3;10:85-94. doi: 10.2147/TACG.S128455. eCollection 2017. Review.

16.

Efficacy and Safety of Pediatric Prolonged-Release Melatonin for Insomnia in Children With Autism Spectrum Disorder.

Gringras P, Nir T, Breddy J, Frydman-Marom A, Findling RL.

J Am Acad Child Adolesc Psychiatry. 2017 Nov;56(11):948-957.e4. doi: 10.1016/j.jaac.2017.09.414. Epub 2017 Sep 19.

17.

Multiethnic Meta-Analysis Identifies RAI1 as a Possible Obstructive Sleep Apnea-related Quantitative Trait Locus in Men.

Chen H, Cade BE, Gleason KJ, Bjonnes AC, Stilp AM, Sofer T, Conomos MP, Ancoli-Israel S, Arens R, Azarbarzin A, Bell GI, Below JE, Chun S, Evans DS, Ewert R, Frazier-Wood AC, Gharib SA, Haba-Rubio J, Hagen EW, Heinzer R, Hillman DR, Johnson WC, Kutalik Z, Lane JM, Larkin EK, Lee SK, Liang J, Loredo JS, Mukherjee S, Palmer LJ, Papanicolaou GJ, Penzel T, Peppard PE, Post WS, Ramos AR, Rice K, Rotter JI, Sands SA, Shah NA, Shin C, Stone KL, Stubbe B, Sul JH, Tafti M, Taylor KD, Teumer A, Thornton TA, Tranah GJ, Wang C, Wang H, Warby SC, Wellman DA, Zee PC, Hanis CL, Laurie CC, Gottlieb DJ, Patel SR, Zhu X, Sunyaev SR, Saxena R, Lin X, Redline S.

Am J Respir Cell Mol Biol. 2018 Mar;58(3):391-401. doi: 10.1165/rcmb.2017-0237OC.

PMID:
29077507
18.

[Application of chromosomal microarray analysis for fetuses with ventricular septal defects].

Deng Q, Fu F, Li R, Jing X, Lei T, Yang X, Pan M, Zhen L, Han J, Liao C.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Oct 10;34(5):699-704. doi: 10.3760/cma.j.issn.1003-9406.2017.05.018. Chinese.

PMID:
28981937
19.

[Phenotypic and genetic analysis of a child carrying a 17q11.2 microdeletion].

Wang H, Feng Z, Yang K, Gao Y, Huo X, Qin L, Lou G.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Oct 10;34(5):695-698. doi: 10.3760/cma.j.issn.1003-9406.2017.05.017. Chinese.

PMID:
28981936
20.

Clinical application of SNP array analysis in fetuses with ventricular septal defects and normal karyotypes.

Fu F, Deng Q, Lei TY, Li R, Jing XY, Yang X, Liao C.

Arch Gynecol Obstet. 2017 Nov;296(5):929-940. doi: 10.1007/s00404-017-4518-2. Epub 2017 Sep 13.

PMID:
28905115

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