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Items: 1 to 20 of 1445

1.

Generalized and Lateralized Rhythmic Patterns.

Schmitt SE.

J Clin Neurophysiol. 2018 May;35(3):218-228. doi: 10.1097/WNP.0000000000000446. Review.

PMID:
29718831
2.

Mental Health and Well-Being in Mothers of Children With Rare Genetic Syndromes Showing Chronic Challenging Behavior: A Cross-Sectional and Longitudinal Study.

Adams D, Clarke S, Griffith G, Howlin P, Moss J, Petty J, Tunnicliffe P, Oliver C.

Am J Intellect Dev Disabil. 2018 May;123(3):241-253. doi: 10.1352/1944-7558-123.3.241.

PMID:
29671635
3.

Biallelic UNC80 mutations caused infantile hypotonia with psychomotor retardation and characteristic facies 2 in two Chinese patients with variable phenotypes.

He Y, Ji X, Yan H, Ye X, Liu Y, Wei W, Xiao B, Sun Y.

Gene. 2018 Jun 20;660:13-17. doi: 10.1016/j.gene.2018.03.063. Epub 2018 Mar 20.

PMID:
29572195
4.

Adrenal Insufficiency, Sex Reversal, and Angelman Syndrome due to Uniparental Disomy Unmasking a Mutation in CYP11A1.

Kim A, Fujimoto M, Hwa V, Backeljauw P, Dauber A.

Horm Res Paediatr. 2018;89(3):205-210. doi: 10.1159/000487638. Epub 2018 Mar 22.

5.

[Analysis of 10 patients with duplications of 15q11q13 region and autism features].

Wang W, Hu C, Bi X, Yuan H.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Feb 10;35(1):23-28. doi: 10.3760/cma.j.issn.1003-9406.2018.01.005. Chinese.

PMID:
29419854
6.

[Clinical and genetic analysis of two unrelated patients with Angelman syndrome and novel UBE3A mutations].

Xu H, Ji X, Xu Y, Liu X, Zhang J, Chen Y, Xiao B.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Dec 10;34(6):826-830. doi: 10.3760/cma.j.issn.1003-9406.2017.06.009. Chinese.

PMID:
29188609
7.

Novel intragenic deletions within the UBE3A gene in two unrelated patients with Angelman syndrome: case report and review of the literature.

Aguilera C, Viñas-Jornet M, Baena N, Gabau E, Fernández C, Capdevila N, Cirkovic S, Sarajlija A, Miskovic M, Radivojevic D, Ruiz A, Guitart M.

BMC Med Genet. 2017 Nov 21;18(1):137. doi: 10.1186/s12881-017-0500-x. Review.

8.

Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism.

Alsemari A, Al-Younes B, Goljan E, Jaroudi D, BinHumaid F, Meyer BF, Arold ST, Monies D.

Hum Genomics. 2017 Nov 14;11(1):28. doi: 10.1186/s40246-017-0124-4. Erratum in: Hum Genomics. 2017 Dec 8;11(1):33.

9.

Unmet clinical needs and burden in Angelman syndrome: a review of the literature.

Wheeler AC, Sacco P, Cabo R.

Orphanet J Rare Dis. 2017 Oct 16;12(1):164. doi: 10.1186/s13023-017-0716-z. Review.

10.

Positive predictive value estimates for cell-free noninvasive prenatal screening from data of a large referral genetic diagnostic laboratory.

Petersen AK, Cheung SW, Smith JL, Bi W, Ward PA, Peacock S, Braxton A, Van Den Veyver IB, Breman AM.

Am J Obstet Gynecol. 2017 Dec;217(6):691.e1-691.e6. doi: 10.1016/j.ajog.2017.10.005. Epub 2017 Oct 13.

11.

Sleep phenotypes in infants and toddlers with neurogenetic syndromes.

Abel EA, Tonnsen BL.

Sleep Med. 2017 Oct;38:130-134. doi: 10.1016/j.sleep.2017.07.014. Epub 2017 Aug 1.

PMID:
29031747
12.

Neuronal overexpression of Ube3a isoform 2 causes behavioral impairments and neuroanatomical pathology relevant to 15q11.2-q13.3 duplication syndrome.

Copping NA, Christian SGB, Ritter DJ, Islam MS, Buscher N, Zolkowska D, Pride MC, Berg EL, LaSalle JM, Ellegood J, Lerch JP, Reiter LT, Silverman JL, Dindot SV.

Hum Mol Genet. 2017 Oct 15;26(20):3995-4010. doi: 10.1093/hmg/ddx289.

PMID:
29016856
13.

Angelman Syndrome due to a Maternally Inherited Intragenic Deletion Encompassing Exons 7 and 8 of the UBE3A Gene.

Ververi A, Islam L, Bewes B, Busby L, Sullivan C, Canham N.

Cytogenet Genome Res. 2017;152(3):132-136. doi: 10.1159/000480030. Epub 2017 Sep 13.

PMID:
28898887
14.

Modulation of hippocampal synapse maturation by activity-regulated E3 ligase via non-canonical pathway.

Kumari P, Srinivasan B, Banerjee S.

Neuroscience. 2017 Nov 19;364:226-241. doi: 10.1016/j.neuroscience.2017.08.057. Epub 2017 Sep 8.

15.

Left ventricular dysfunction in a patient with Angelman syndrome.

Powell AW, Taylor MD, Hopkin RJ, Sublett J, Jefferies JL.

Clin Dysmorphol. 2018 Jan;27(1):21-22. doi: 10.1097/MCD.0000000000000203. No abstract available.

PMID:
28877039
16.

Sleep in children with Angelman syndrome: Parental concerns and priorities.

Trickett J, Heald M, Oliver C.

Res Dev Disabil. 2017 Oct;69:105-115. doi: 10.1016/j.ridd.2017.07.017. Epub 2017 Aug 30.

PMID:
28844022
17.

Epilepsy and sleep disorders improve in adolescents and adults with Angelman syndrome: A multicenter study on 46 patients.

Sueri C, Ferlazzo E, Elia M, Bonanni P, Randazzo G, Gasparini S, D'Agostino T, Sapone AR, Ascoli M, Bellavia MA, Cianci V, Gambardella A, Labate A, Aguglia U.

Epilepsy Behav. 2017 Oct;75:225-229. doi: 10.1016/j.yebeh.2017.07.041. Epub 2017 Aug 19.

PMID:
28827041
18.

Prevalence of gastrointestinal symptoms in Angelman syndrome.

Glassman LW, Grocott OR, Kunz PA, Larson AM, Zella G, Ganguli K, Thibert RL.

Am J Med Genet A. 2017 Oct;173(10):2703-2709. doi: 10.1002/ajmg.a.38401. Epub 2017 Aug 16.

PMID:
28816003
19.

Clinical Validation of a Genome-Wide DNA Methylation Assay for Molecular Diagnosis of Imprinting Disorders.

Aref-Eshghi E, Schenkel LC, Lin H, Skinner C, Ainsworth P, Paré G, Siu V, Rodenhiser D, Schwartz C, Sadikovic B.

J Mol Diagn. 2017 Nov;19(6):848-856. doi: 10.1016/j.jmoldx.2017.07.002. Epub 2017 Aug 12.

PMID:
28807811
20.

A web-based, patient driven registry for Angelman syndrome: the global Angelman syndrome registry.

Napier KR, Tones M, Simons C, Heussler H, Hunter AA, Cross M, Bellgard MI.

Orphanet J Rare Dis. 2017 Aug 1;12(1):134. doi: 10.1186/s13023-017-0686-1.

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