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Items: 1 to 20 of 10848

1.

Stxbp1/Munc18-1 haploinsufficiency impairs inhibition and mediates key neurological features of STXBP1 encephalopathy.

Chen W, Cai ZL, Chao ES, Chen H, Longley CM, Hao S, Chao HT, Kim JH, Messier JE, Zoghbi HY, Tang J, Swann JW, Xue M.

Elife. 2020 Feb 19;9. pii: e48705. doi: 10.7554/eLife.48705. [Epub ahead of print]

PMID:
32073399
2.

Adult siblings of people with and without intellectual and developmental disabilities: Sibling relationship attitudes and psychosocial outcomes.

Sommantico M, Parrello S, De Rosa B.

Res Dev Disabil. 2020 Feb 15;99:103594. doi: 10.1016/j.ridd.2020.103594. [Epub ahead of print]

PMID:
32070862
3.

Partial trisomy 9p and 14q microduplication in a patient with growth retardation: a case report and review of the literature.

Fan J, Zhou J, Lin D, Guo Y, Li S, Zhang S, Liang L, Yan L.

J Pediatr Endocrinol Metab. 2020 Feb 18. pii: /j/jpem.ahead-of-print/jpem-2019-0246/jpem-2019-0246.xml. doi: 10.1515/jpem-2019-0246. [Epub ahead of print]

PMID:
32069233
4.

SynGAP Splice Variants Display Heterogeneous Spatio-Temporal Expression And Subcellular Distribution In The Developing Mammalian Brain.

Gou G, Roca-Fernandez A, Kilinc M, Serrano E, Reig-Viader R, Araki Y, Huganir RL, de Quintana-Schmidt C, Rumbaugh G, Bayés À.

J Neurochem. 2020 Feb 18:e14988. doi: 10.1111/jnc.14988. [Epub ahead of print]

PMID:
32068252
5.

Further delineation of METTL23-associated intellectual disability.

Almannai M, Obaid O, Faqeih E, Alasmari A, Samman MM, Pinz H, Braddock SR, Alkuraya FS.

Am J Med Genet A. 2020 Feb 18. doi: 10.1002/ajmg.a.61503. [Epub ahead of print]

PMID:
32067349
6.

Translational outcomes in a full gene deletion of ubiquitin protein ligase E3A rat model of Angelman syndrome.

Berg EL, Pride MC, Petkova SP, Lee RD, Copping NA, Shen Y, Adhikari A, Fenton TA, Pedersen LR, Noakes LS, Nieman BJ, Lerch JP, Harris S, Born HA, Peters MM, Deng P, Cameron DL, Fink KD, Beitnere U, O'Geen H, Anderson AE, Dindot SV, Nash KR, Weeber EJ, Wöhr M, Ellegood J, Segal DJ, Silverman JL.

Transl Psychiatry. 2020 Jan 27;10(1):39. doi: 10.1038/s41398-020-0720-2.

PMID:
32066685
7.

Treatment-resistant psychotic symptoms and the 15q11.2 BP1-BP2 (Burnside-Butler) deletion syndrome: case report and review of the literature.

Farrell M, Lichtenstein M, Harner MK, Crowley JJ, Filmyer DM, Lázaro-Muñoz G, Dietterich TE, Bruno LM, Shaughnessy RA, Biondi TF, Burkholder S, Donmoyer J, Berg JS, Szatkiewicz J, Sullivan PF, Josiassen RC.

Transl Psychiatry. 2020 Jan 28;10(1):42. doi: 10.1038/s41398-020-0725-x.

PMID:
32066678
8.

EEF1A2 mutations in epileptic encephalopathy/intellectual disability: Understanding the potential mechanism of phenotypic variation.

Long K, Wang H, Song Z, Yin X, Wang Y.

Epilepsy Behav. 2020 Feb 13;105:106955. doi: 10.1016/j.yebeh.2020.106955. [Epub ahead of print]

PMID:
32062104
9.

Pain interventions in adults with intellectual disability: a scoping review and pharmacological considerations.

Lonchampt S, Gerber F, Aubry JM, Desmeules J, Kosel M, Besson M.

Eur J Pain. 2020 Feb 14. doi: 10.1002/ejp.1547. [Epub ahead of print] Review.

PMID:
32060971
10.

Advancing Knowledge of Down Syndrome Brain Development and Function With Human Stem Cells.

Bhattacharyya A.

Am J Intellect Dev Disabil. 2020 Mar;125(2):90-92. doi: 10.1352/1944-7558-125.2.90.

PMID:
32058817
11.

Cultural Narratives of Micronesian Islander Parent Leaders: Maternal and Children's Health, the School System, and the Role of Culture.

Nguyen-Truong CKY, Leung J, Micky K.

Asian Pac Isl Nurs J. 2020;4(4):173-182. doi: 10.31372/20190404.1078.

12.

NCBP2modulates neurodevelopmental defects of the 3q29 deletion in Drosophila and Xenopus laevis models.

Singh MD, Jensen M, Lasser M, Huber E, Yusuff T, Pizzo L, Lifschutz B, Desai I, Kubina A, Yennawar S, Kim S, Iyer J, Rincon-Limas DE, Lowery LA, Girirajan S.

PLoS Genet. 2020 Feb 13;16(2):e1008590. doi: 10.1371/journal.pgen.1008590. [Epub ahead of print]

13.

1000 Families Study, a UK multiwave cohort investigating the well-being of families of children with intellectual disabilities: cohort profile.

Hastings RP, Totsika V, Hayden NK, Murray CA, Jess M, Langley E, Margetson JK.

BMJ Open. 2020 Feb 12;10(2):e032919. doi: 10.1136/bmjopen-2019-032919.

14.

Novel PAK3 gene missense variant associated with two Chinese siblings with intellectual disability: a case report.

Qian Y, Wu B, Lu Y, Zhou W, Wang S, Wang H.

BMC Med Genet. 2020 Feb 12;21(1):31. doi: 10.1186/s12881-020-0957-x.

15.

Using technology and remote support services to promote independent living of adults with intellectual disability and related developmental disabilities.

Tassé MJ, Wagner JB, Kim M.

J Appl Res Intellect Disabil. 2020 Feb 12. doi: 10.1111/jar.12709. [Epub ahead of print]

PMID:
32050053
16.

Foxp1 Regulates Neural Stem Cell Self-Renewal and Bias Toward Deep Layer Cortical Fates.

Pearson CA, Moore DM, Tucker HO, Dekker JD, Hu H, Miquelajáuregui A, Novitch BG.

Cell Rep. 2020 Feb 11;30(6):1964-1981.e3. doi: 10.1016/j.celrep.2020.01.034.

PMID:
32049024
17.

Standardizing the assessment of emotional development in adults with intellectual and developmental disability.

Sappok T, Došen A, Zepperitz S, Barrett B, Vonk J, Schanze C, Ilic M, Bergmann T, De Neve L, Birkner J, Zaal S, Bertelli MO, Hudson M, Morisse F, Sterkenburg P.

J Appl Res Intellect Disabil. 2020 Feb 11. doi: 10.1111/jar.12697. [Epub ahead of print]

PMID:
32048401
18.

Snyder-Robinson Syndrome.

Schwartz CE, Peron A, Kutler MJ.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020.
2013 Jun 27 [updated 2020 Feb 13].

19.

Two cases of 16q12.1q21 deletions and refinement of the critical region.

Apuzzo D, Cappuccio G, Vaisanen T, Alagia M, Pignataro P, Genesio R, Brunetti-Pierri N.

Eur J Med Genet. 2020 Feb 8:103878. doi: 10.1016/j.ejmg.2020.103878. [Epub ahead of print]

PMID:
32045705
20.

Skin and nails abnormalities in a patient with ZTTK syndrome and a de novo mutation in SON.

Quintana Castanedo L, Sánchez Orta A, Maseda Pedrero R, Santos Simarro F, Palomares Bralo M, Feito Rodríguez M, de Lucas Laguna R.

Pediatr Dermatol. 2020 Feb 11. doi: 10.1111/pde.14113. [Epub ahead of print]

PMID:
32045494

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