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Items: 1 to 20 of 340

1.

Fragile X syndrome: a review of clinical and molecular diagnoses.

Ciaccio C, Fontana L, Milani D, Tabano S, Miozzo M, Esposito S.

Ital J Pediatr. 2017 Apr 19;43(1):39. doi: 10.1186/s13052-017-0355-y. Review.

2.

Precursors to language development in typically and atypically developing infants and toddlers: the importance of embracing complexity.

D'Souza D, D'Souza H, Karmiloff-Smith A.

J Child Lang. 2017 May;44(3):591-627. doi: 10.1017/S030500091700006X. Epub 2017 Apr 10.

PMID:
28393740
3.

A resting EEG study of neocortical hyperexcitability and altered functional connectivity in fragile X syndrome.

Wang J, Ethridge LE, Mosconi MW, White SP, Binder DK, Pedapati EV, Erickson CA, Byerly MJ, Sweeney JA.

J Neurodev Disord. 2017 Mar 14;9:11. doi: 10.1186/s11689-017-9191-z. eCollection 2017.

4.

Signaling of noncomprehension in communication breakdowns in fragile X syndrome, Down syndrome, and autism spectrum disorder.

Martin GE, Barstein J, Hornickel J, Matherly S, Durante G, Losh M.

J Commun Disord. 2017 Jan - Feb;65:22-34. doi: 10.1016/j.jcomdis.2017.01.003. Epub 2017 Jan 26.

PMID:
28161297
5.

Learning potential and cognitive abilities in preschool boys with fragile X and Down syndrome.

Valencia-Naranjo N, Robles-Bello MA.

Res Dev Disabil. 2017 Jan;60:153-161. doi: 10.1016/j.ridd.2016.12.001. Epub 2016 Dec 13.

PMID:
27984817
6.

Parenting of children with Down syndrome compared to fragile X syndrome.

Sterling A, Warren SF.

Dev Neurorehabil. 2016 Dec 7:1-4. [Epub ahead of print]

PMID:
27924668
7.

A Comparative Study of Sociability in Angelman, Cornelia de Lange, Fragile X, Down and Rubinstein Taybi Syndromes and Autism Spectrum Disorder.

Moss J, Nelson L, Powis L, Waite J, Richards C, Oliver C.

Am J Intellect Dev Disabil. 2016 Nov;121(6):465-486.

PMID:
27802104
8.

Depletion of the Fragile X Mental Retardation Protein in Embryonic Stem Cells Alters the Kinetics of Neurogenesis.

Khalfallah O, Jarjat M, Davidovic L, Nottet N, Cestèle S, Mantegazza M, Bardoni B.

Stem Cells. 2017 Feb;35(2):374-385. doi: 10.1002/stem.2505. Epub 2016 Oct 26.

PMID:
27664080
9.

Integrated transcriptome analysis of human iPS cells derived from a fragile X syndrome patient during neuronal differentiation.

Lu P, Chen X, Feng Y, Zeng Q, Jiang C, Zhu X, Fan G, Xue Z.

Sci China Life Sci. 2016 Nov;59(11):1093-1105. Epub 2016 Oct 11.

PMID:
27730449
10.

Treatment of Neurogenetic Developmental Conditions: From 2016 into the Future.

van Karnebeek CD, Bowden K, Berry-Kravis E.

Pediatr Neurol. 2016 Dec;65:1-13. doi: 10.1016/j.pediatrneurol.2016.07.010. Epub 2016 Jul 26. Review.

PMID:
27697313
11.

The NIH Toolbox Cognitive Battery for intellectual disabilities: three preliminary studies and future directions.

Hessl D, Sansone SM, Berry-Kravis E, Riley K, Widaman KF, Abbeduto L, Schneider A, Coleman J, Oaklander D, Rhodes KC, Gershon RC.

J Neurodev Disord. 2016 Sep 6;8(1):35. doi: 10.1186/s11689-016-9167-4. eCollection 2016.

12.

Where Environment Meets Cognition: A Focus on Two Developmental Intellectual Disability Disorders.

Toma ID, Gil LM, Ossowski S, Dierssen M.

Neural Plast. 2016;2016:4235898. doi: 10.1155/2016/4235898. Epub 2016 Jul 28. Review.

13.

Fragile X mental retardation protein knockdown in the developing Xenopus tadpole optic tectum results in enhanced feedforward inhibition and behavioral deficits.

Truszkowski TL, James EJ, Hasan M, Wishard TJ, Liu Z, Pratt KG, Cline HT, Aizenman CD.

Neural Dev. 2016 Aug 8;11(1):14. doi: 10.1186/s13064-016-0069-7.

14.

Audio-visual speech perception in infants and toddlers with Down syndrome, fragile X syndrome, and Williams syndrome.

D'Souza D, D'Souza H, Johnson MH, Karmiloff-Smith A.

Infant Behav Dev. 2016 Aug;44:249-62. doi: 10.1016/j.infbeh.2016.07.002. Epub 2016 Aug 4.

PMID:
27498221
15.

Down Syndrome and Fragile X Syndrome in a Colombian Woman: Case Report.

Saldarriaga W, Ruiz FA, Tassone F, Hagerman R.

J Appl Res Intellect Disabil. 2016 Jul 26. doi: 10.1111/jar.12272. [Epub ahead of print]

PMID:
27456465
16.

Altered redox mitochondrial biology in the neurodegenerative disorder fragile X-tremor/ataxia syndrome: use of antioxidants in precision medicine.

Song G, Napoli E, Wong S, Hagerman R, Liu S, Tassone F, Giulivi C.

Mol Med. 2016 Jun 30;22. doi: 10.2119/molmed.2016.00122. [Epub ahead of print]

17.

Defining the Performance Parameters of a Rapid Screening Tool for FMR1 CGG-Repeat Expansions Based on Direct Triplet-Primed PCR and Melt Curve Analysis.

Rajan-Babu IS, Lian M, Tran AH, Dang TT, Le HT, Thanh MN, Lee CG, Chong SS.

J Mol Diagn. 2016 Sep;18(5):719-30. doi: 10.1016/j.jmoldx.2016.05.002. Epub 2016 Jul 1.

PMID:
27375073
18.

The mechanism of action of FXR1P-related miR-19b-3p in SH-SY5Y.

Ma Y, Tian S, He S, Chen Q, Wang Z, Xiao X, Fu L, Lei X.

Gene. 2016 Aug 15;588(1):62-8. doi: 10.1016/j.gene.2016.04.037. Epub 2016 Apr 29.

PMID:
27138803
19.
20.

Inside story of Group I Metabotropic Glutamate Receptors (mGluRs).

Bhattacharyya S.

Int J Biochem Cell Biol. 2016 Aug;77(Pt B):205-12. doi: 10.1016/j.biocel.2016.03.003. Epub 2016 Mar 14.

PMID:
26987586

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