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Items: 1 to 20 of 27

1.

Health problems in females carriers of premutation in the FMR1 gene.

Lisik MZ.

Psychiatr Pol. 2017 Oct 29;51(5):899-907. doi: 10.12740/PP/65778. Epub 2017 Oct 29. Review. English, Polish.

2.

Fragile X-associated tremor/ataxia syndrome.

Hoem G, Koht J.

Tidsskr Nor Laegeforen. 2017 Oct 30;137(20). doi: 10.4045/tidsskr.17.0317. Print 2017 Oct 31. Review. English, Norwegian.

3.

Neuroepigenetic mechanisms in disease.

Christopher MA, Kyle SM, Katz DJ.

Epigenetics Chromatin. 2017 Oct 16;10(1):47. doi: 10.1186/s13072-017-0150-4. Review.

4.

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.

5.

Phosphodiesterase-4B as a Therapeutic Target for Cognitive Impairment and Obesity-Related Metabolic Diseases.

Clapcote SJ.

Adv Neurobiol. 2017;17:103-131. doi: 10.1007/978-3-319-58811-7_5. Review.

PMID:
28956331
6.

Recent advances in assays for the fragile X-related disorders.

Hayward BE, Kumari D, Usdin K.

Hum Genet. 2017 Oct;136(10):1313-1327. doi: 10.1007/s00439-017-1840-5. Epub 2017 Sep 2. Review.

PMID:
28866801
7.

Concomitant occurrence of FXTAS and clinically defined sporadic inclusion body myositis: report of two cases.

Lechpammer M, Martínez Cerdeńo V, Hunsaker MR, Hah M, Gonzales H, Tisch S, Joffe R, Pamphlett R, Tassone F, Hagerman PJ, Bolitho SJ, Hagerman RJ.

Croat Med J. 2017 Aug 31;58(4):310-315.

8.

Epilepsy in fragile-X-syndrome mimicking panayiotopoulos syndrome: Description of three patients.

Bonanni P, Casellato S, Fabbro F, Negrin S.

Am J Med Genet A. 2017 Oct;173(10):2753-2757. doi: 10.1002/ajmg.a.38373. Epub 2017 Aug 16.

PMID:
28815953
9.

Paternal transmission of a FMR1 full mutation allele.

Alvarez-Mora MI, Guitart M, Rodriguez-Revenga L, Madrigal I, Gabau E, Milà M.

Am J Med Genet A. 2017 Oct;173(10):2795-2797. doi: 10.1002/ajmg.a.38384. Epub 2017 Aug 16.

PMID:
28815939
10.

Fragile X Newborn Screening: Lessons Learned From a Multisite Screening Study.

Bailey DB Jr, Berry-Kravis E, Gane LW, Guarda S, Hagerman R, Powell CM, Tassone F, Wheeler A.

Pediatrics. 2017 Jun;139(Suppl 3):S216-S225. doi: 10.1542/peds.2016-1159H.

PMID:
28814542
11.

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.

12.

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
13.

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.

14.

Implications of the FMR1 Premutation for Children, Adolescents, Adults, and Their Families.

Wheeler A, Raspa M, Hagerman R, Mailick M, Riley C.

Pediatrics. 2017 Jun;139(Suppl 3):S172-S182. doi: 10.1542/peds.2016-1159D. Review.

15.

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.

16.

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.

17.

A Screening Tool to Measure Eye Contact Avoidance in Boys with Fragile X Syndrome.

Hall SS, Venema KM.

J Autism Dev Disord. 2017 Jul;47(7):2254-2264. doi: 10.1007/s10803-017-3139-8.

18.

Calcium dysregulation and Cdk5-ATM pathway involved in a mouse model of fragile X-associated tremor/ataxia syndrome.

Robin G, López JR, Espinal GM, Hulsizer S, Hagerman PJ, Pessah IN.

Hum Mol Genet. 2017 Jul 15;26(14):2649-2666. doi: 10.1093/hmg/ddx148.

PMID:
28444183
19.

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.

20.

Fragile X-associated tremor/ataxia syndrome: cognitive presentations.

Connon P, Larner AJ.

Br J Hosp Med (Lond). 2017 Apr 2;78(4):230-231. doi: 10.12968/hmed.2017.78.4.230. No abstract available.

PMID:
28398884

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