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Best matches for angelman:

Angelman Syndrome: Identification and Management. Bonello D et al. Neonatal Netw. (2017)

Angelman syndrome - insights into a rare neurogenetic disorder. Buiting K et al. Nat Rev Neurol. (2016)

Angelman Syndrome. Margolis SS et al. Neurotherapeutics. (2015)

Search results

Items: 1 to 20 of 1812

1.

Establishment of human induced pluripotent stem cell line from a patient with Angelman syndrome carrying the deletion of maternal chromosome 15q11.2-q13.

Niki T, Imamura K, Enami T, Kinoshita M, Inoue H.

Stem Cell Res. 2018 Dec 10;34:101363. doi: 10.1016/j.scr.2018.101363. [Epub ahead of print]

2.

[Etiology and clinical features of epilepsia partialis continua: an analysis of six cases].

Zhang M, Tang ZL, Wu LW, Yang L, Wang XL, Yin F, Peng J, Chen C.

Zhongguo Dang Dai Er Ke Za Zhi. 2018 Dec;20(12):1008-1014. Chinese.

PMID:
30572989
3.

UBE3A and Its Link With Autism.

Vatsa N, Jana NR.

Front Mol Neurosci. 2018 Dec 4;11:448. doi: 10.3389/fnmol.2018.00448. eCollection 2018. Review.

4.

Identification of a de novo splicing variant in the Coffin-Siris gene, SMARCE1, in a patient with Angelman-like syndrome.

Aguilera C, Gabau E, Laurie S, Baena N, Derdak S, Capdevila N, Ramirez A, Delgadillo V, García-Catalan MJ, Brun C, Guitart M, Ruiz A.

Mol Genet Genomic Med. 2018 Dec 11. doi: 10.1002/mgg3.511. [Epub ahead of print]

5.

Rare missense TUBGCP5 gene variant in a patient with primary microcephaly.

Maver A, Čuturilo G, Kovanda A, Miletić A, Peterlin B.

Eur J Med Genet. 2018 Dec 10. pii: S1769-7212(18)30274-X. doi: 10.1016/j.ejmg.2018.12.003. [Epub ahead of print]

PMID:
30543990
6.

Brief Report: Challenging Behaviors in Toddlers and Preschoolers with Angelman, Prader-Willi, and Williams Syndromes.

Neo WS, Tonnsen BL.

J Autism Dev Disord. 2018 Dec 12. doi: 10.1007/s10803-018-3853-x. [Epub ahead of print]

PMID:
30542941
7.

Close yet so far away: a look into the management strategies of genetic imprinting disorders.

Pianka MA, McIntosh AT, Patel SD, Bakhshi PR, Jung M.

Am J Stem Cells. 2018 Oct 1;7(4):72-81. eCollection 2018. Review.

8.

Feasibility of using auditory event-related potentials to investigate learning and memory in nonverbal individuals with Angelman syndrome.

Key AP, Jones D, Peters S, Dold C.

Brain Cogn. 2018 Dec;128:73-79. doi: 10.1016/j.bandc.2018.11.001. Epub 2018 Nov 22.

PMID:
30471990
9.

A proteasomal partner goes missing in Angelman syndrome.

Huibregtse JM.

J Biol Chem. 2018 Nov 23;293(47):18400-18401. doi: 10.1074/jbc.H118.006328.

10.

Social-emotional processing in nonverbal individuals with Angelman syndrome: evidence from brain responses to known and novel names.

Key AP, Jones D.

J Intellect Disabil Res. 2018 Nov 23. doi: 10.1111/jir.12570. [Epub ahead of print]

PMID:
30468263
11.

Enhancement of synaptic plasticity and reversal of impairments in motor and cognitive functions in a mouse model of Angelman Syndrome by a small neurogenic molecule, NSI-189.

Liu Y, Johe K, Sun J, Hao X, Wang Y, Bi X, Baudry M.

Neuropharmacology. 2019 Jan;144:337-344. doi: 10.1016/j.neuropharm.2018.10.038. Epub 2018 Nov 5.

PMID:
30408487
12.

Genomic landscapes of Chinese sporadic autism spectrum disorders revealed by whole-genome sequencing.

Wu J, Yu P, Jin X, Xu X, Li J, Li Z, Wang M, Wang T, Wu X, Jiang Y, Cai W, Mei J, Min Q, Xu Q, Zhou B, Guo H, Wang P, Zhou W, Hu Z, Li Y, Cai T, Wang Y, Xia K, Jiang YH, Sun ZS.

J Genet Genomics. 2018 Oct 20;45(10):527-538. doi: 10.1016/j.jgg.2018.09.002. Epub 2018 Oct 21.

PMID:
30392784
13.

Subcellular organization of UBE3A in human cerebral cortex.

Burette AC, Judson MC, Li AN, Chang EF, Seeley WW, Philpot BD, Weinberg RJ.

Mol Autism. 2018 Oct 19;9:54. doi: 10.1186/s13229-018-0238-0. eCollection 2018.

14.

Using Bayesian methodology to explore the profile of mental health and well-being in 646 mothers of children with 13 rare genetic syndromes in relation to mothers of children with autism.

Adams D, Hastings RP, Alston-Knox C, Cianfaglione R, Eden K, Felce D, Griffith G, Moss J, Stinton C, Oliver C.

Orphanet J Rare Dis. 2018 Oct 25;13(1):185. doi: 10.1186/s13023-018-0924-1.

15.

Ube3a reinstatement mitigates epileptogenesis in Angelman syndrome model mice.

Gu B, Carstens KE, Judson MC, Dalton KA, Rougié M, Clark EP, Dudek SM, Philpot BD.

J Clin Invest. 2019 Jan 2;129(1):163-168. doi: 10.1172/JCI120816. Epub 2018 Nov 19.

16.

Insights into imprinting from parent-of-origin phased methylomes and transcriptomes.

Zink F, Magnusdottir DN, Magnusson OT, Walker NJ, Morris TJ, Sigurdsson A, Halldorsson GH, Gudjonsson SA, Melsted P, Ingimundardottir H, Kristmundsdottir S, Alexandersson KF, Helgadottir A, Gudmundsson J, Rafnar T, Jonsdottir I, Holm H, Eyjolfsson GI, Sigurdardottir O, Olafsson I, Masson G, Gudbjartsson DF, Thorsteinsdottir U, Halldorsson BV, Stacey SN, Stefansson K.

Nat Genet. 2018 Nov;50(11):1542-1552. doi: 10.1038/s41588-018-0232-7. Epub 2018 Oct 22.

PMID:
30349119
17.

Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort.

Tazelaar GHP, Dekker AM, van Vugt JJFA, van der Spek RA, Westeneng HJ, Kool LJBG, Kenna KP, van Rheenen W, Pulit SL, McLaughlin RL, Sproviero W, Iacoangeli A, Hübers A, Brenner D, Morrison KE, Shaw PJ, Shaw CE, Panadés MP, Mora Pardina JS, Glass JD, Hardiman O, Al-Chalabi A, van Damme P, Robberecht W, Landers JE, Ludolph AC, Weishaupt JH, van den Berg LH, Veldink JH, van Es MA; Project MinE ALS Sequencing Consortium.

Neurobiol Aging. 2019 Feb;74:234.e9-234.e15. doi: 10.1016/j.neurobiolaging.2018.09.012. Epub 2018 Sep 22.

PMID:
30342764
18.

Investigating Humor in Social Interaction in People With Intellectual Disabilities: A Systematic Review of the Literature.

Chadwick DD, Platt T.

Front Psychol. 2018 Sep 21;9:1745. doi: 10.3389/fpsyg.2018.01745. eCollection 2018.

19.

Generation of an iPSC line of a patient with Angelman syndrome due to an imprinting defect.

Neureiter A, Brändl B, Hiber M, Tandon R, Müller FJ, Steenpass L.

Stem Cell Res. 2018 Dec;33:20-24. doi: 10.1016/j.scr.2018.09.015. Epub 2018 Sep 24.

20.

A mouse model of Angelman syndrome imprinting defects.

Lewis MW, Vargas-Franco D, Morse DA, Resnick JL.

Hum Mol Genet. 2019 Jan 15;28(2):220-229. doi: 10.1093/hmg/ddy345.

PMID:
30260400

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