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Items: 1 to 20 of 25

1.

Caries experience and salivary aspects in individuals with fragile X syndrome.

Amaral COFD, Straioto FG, Napimoga MH, Martinez EF.

Braz Oral Res. 2017 Sep 28;31:e79. doi: 10.1590/1807-3107BOR-2017.vol31.0079.

2.

Assessing the Fragile X Syndrome Newborn Screening Landscape.

Riley C, Wheeler A.

Pediatrics. 2017 Jun;139(Suppl 3):S207-S215. doi: 10.1542/peds.2016-1159G. Review.

3.

Autism Spectrum Disorder in Fragile X Syndrome: Cooccurring Conditions and Current Treatment.

Kaufmann WE, Kidd SA, Andrews HF, Budimirovic DB, Esler A, Haas-Givler B, Stackhouse T, Riley C, Peacock G, Sherman SL, Brown WT, Berry-Kravis E.

Pediatrics. 2017 Jun;139(Suppl 3):S194-S206. doi: 10.1542/peds.2016-1159F.

PMID:
28814540
4.

FORWARD: A Registry and Longitudinal Clinical Database to Study Fragile X Syndrome.

Sherman SL, Kidd SA, Riley C, Berry-Kravis E, Andrews HF, Miller RM, Lincoln S, Swanson M, Kaufmann WE, Brown WT.

Pediatrics. 2017 Jun;139(Suppl 3):S183-S193. doi: 10.1542/peds.2016-1159E.

5.

Public Health Literature Review of Fragile X Syndrome.

Raspa M, Wheeler AC, Riley C.

Pediatrics. 2017 Jun;139(Suppl 3):S153-S171. doi: 10.1542/peds.2016-1159C. Review.

6.

The Future of Fragile X Syndrome: CDC Stakeholder Meeting Summary.

Riley C, Mailick M, Berry-Kravis E, Bolen J.

Pediatrics. 2017 Jun;139(Suppl 3):S147-S152. doi: 10.1542/peds.2016-1159B. No abstract available.

7.

Capture-recapture methodology to study rare conditions using surveillance data for fragile X syndrome and muscular dystrophy.

Smith MG, Royer J, Mann J, McDermott S, Valdez R.

Orphanet J Rare Dis. 2017 Apr 21;12(1):76. doi: 10.1186/s13023-017-0628-y.

8.

New insights of altered lipid profile in Fragile X Syndrome.

Çaku A, Seidah NG, Lortie A, Gagné N, Perron P, Dubé J, Corbin F.

PLoS One. 2017 Mar 23;12(3):e0174301. doi: 10.1371/journal.pone.0174301. eCollection 2017.

9.

A Retrospective Video Analysis of Canonical Babbling and Volubility in Infants with Fragile X Syndrome at 9-12 Months of Age.

Belardi K, Watson LR, Faldowski RA, Hazlett H, Crais E, Baranek GT, McComish C, Patten E, Oller DK.

J Autism Dev Disord. 2017 Apr;47(4):1193-1206. doi: 10.1007/s10803-017-3033-4.

PMID:
28247019
10.

Deficits in the activity of presynaptic γ-aminobutyric acid type B receptors contribute to altered neuronal excitability in fragile X syndrome.

Kang JY, Chadchankar J, Vien TN, Mighdoll MI, Hyde TM, Mather RJ, Deeb TZ, Pangalos MN, Brandon NJ, Dunlop J, Moss SJ.

J Biol Chem. 2017 Apr 21;292(16):6621-6632. doi: 10.1074/jbc.M116.772541. Epub 2017 Feb 17.

PMID:
28213518
11.

Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome.

Quartier A, Poquet H, Gilbert-Dussardier B, Rossi M, Casteleyn AS, Portes VD, Feger C, Nourisson E, Kuentz P, Redin C, Thevenon J, Mosca-Boidron AL, Callier P, Muller J, Lesca G, Huet F, Geoffroy V, El Chehadeh S, Jung M, Trojak B, Le Gras S, Lehalle D, Jost B, Maury S, Masurel A, Edery P, Thauvin-Robinet C, Gérard B, Mandel JL, Faivre L, Piton A.

Eur J Hum Genet. 2017 Apr;25(4):423-431. doi: 10.1038/ejhg.2016.204. Epub 2017 Feb 8.

PMID:
28176767
12.

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
13.

Incidence of Fragile X syndrome in Ireland.

O'Byrne JJ, Sweeney M, Donnelly DE, Lambert DM, Beattie ED, Gervin CM, Barton DE, Lynch SA.

Am J Med Genet A. 2017 Mar;173(3):678-683. doi: 10.1002/ajmg.a.38081. Epub 2017 Feb 3.

PMID:
28157260
14.

Molecular analyses of neurogenic defects in a human pluripotent stem cell model of fragile X syndrome.

Boland MJ, Nazor KL, Tran HT, Szücs A, Lynch CL, Paredes R, Tassone F, Sanna PP, Hagerman RJ, Loring JF.

Brain. 2017 Mar 1;140(3):582-598. doi: 10.1093/brain/aww357.

PMID:
28137726
15.

The Longitudinal Effects of Parenting on Adaptive Behavior in Children with Fragile X Syndrome.

Warren SF, Brady N, Fleming KK, Hahn LJ.

J Autism Dev Disord. 2017 Mar;47(3):768-784. doi: 10.1007/s10803-016-2999-7.

PMID:
28074357
16.

Language Skills of Males with Fragile X Syndrome or Nonsyndromic Autism Spectrum Disorder.

Thurman AJ, McDuffie A, Hagerman RJ, Josol CK, Abbeduto L.

J Autism Dev Disord. 2017 Mar;47(3):728-743. doi: 10.1007/s10803-016-3003-2.

PMID:
28074353
17.

Human pluripotent stem cells in modeling human disorders: the case of fragile X syndrome.

Vershkov D, Benvenisty N.

Regen Med. 2017 Jan;12(1):53-68. doi: 10.2217/rme-2016-0100. Epub 2016 Nov 30. Review.

PMID:
27900874
18.

A New Link Between Insulin Signaling and Fragile X Syndrome.

Bu B, Zhang L.

Neurosci Bull. 2017 Feb;33(1):118-120. doi: 10.1007/s12264-016-0083-0. Epub 2016 Nov 12. No abstract available.

PMID:
27838827
19.

Investigating the Receptive-Expressive Vocabulary Profile in Children with Idiopathic ASD and Comorbid ASD and Fragile X Syndrome.

Haebig E, Sterling A.

J Autism Dev Disord. 2017 Feb;47(2):260-274. doi: 10.1007/s10803-016-2921-3.

PMID:
27796729
20.

Comparative study of laterality in people with fragile X syndrome, people with intellectual disabilities, and people with typical development.

Niort J, Hernández Vázquez FJ.

Laterality. 2017 Jul;22(4):399-411. doi: 10.1080/1357650X.2016.1208663. Epub 2016 Jul 19.

PMID:
27433925

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