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Items: 1 to 20 of 21

1.

New Molecular Considerations for Glioma: IDH, ATRX, BRAF, TERT, H3 K27M.

Karsy M, Guan J, Cohen AL, Jensen RL, Colman H.

Curr Neurol Neurosci Rep. 2017 Feb;17(2):19. doi: 10.1007/s11910-017-0722-5. Review.

PMID:
28271343
2.

ATRX and DAXX: Mechanisms and Mutations.

Dyer MA, Qadeer ZA, Valle-Garcia D, Bernstein E.

Cold Spring Harb Perspect Med. 2017 Mar 1;7(3). pii: a026567. doi: 10.1101/cshperspect.a026567. Review.

PMID:
28062559
3.

The Role of ATRX in the Alternative Lengthening of Telomeres (ALT) Phenotype.

Amorim JP, Santos G, Vinagre J, Soares P.

Genes (Basel). 2016 Sep 19;7(9). pii: E66. doi: 10.3390/genes7090066. Review.

4.

Molecular classification of gliomas.

Masui K, Mischel PS, Reifenberger G.

Handb Clin Neurol. 2016;134:97-120. doi: 10.1016/B978-0-12-802997-8.00006-2. Review.

PMID:
26948350
5.

Volvulus and bowel obstruction in ATR-X syndrome-clinical report and review of literature.

Horesh N, Pery R, Amiel I, Shwaartz C, Speter C, Guranda L, Gutman M, Hoffman A.

Am J Med Genet A. 2015 Nov;167A(11):2777-9. doi: 10.1002/ajmg.a.37252. Epub 2015 Jul 14. Review.

PMID:
26174613
6.

Impending Impact of Molecular Pathology on Classifying Adult Diffuse Gliomas.

Macaulay RJ.

Cancer Control. 2015 Apr;22(2):200-5. Review.

7.

Emerging interplay of genetics and epigenetics in gliomas: a new hope for targeted therapy.

Yong RL, Tsankova NM.

Semin Pediatr Neurol. 2015 Mar;22(1):14-22. doi: 10.1016/j.spen.2014.12.004. Epub 2014 Dec 11. Review.

PMID:
25976256
8.

Treatment of anaplastic glioma.

Wick W, Wiestler B, Platten M.

Cancer Treat Res. 2015;163:89-101. doi: 10.1007/978-3-319-12048-5_6. Review.

PMID:
25468227
9.

Alpha-Thalassemia X-Linked Intellectual Disability Syndrome.

Stevenson RE.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mefford HC, Stephens K, Amemiya A, Ledbetter N, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2000 Jun 19 [updated 2014 Nov 6].

10.

Rare congenital pulmonary malformation with diagnostic challenging: congenital pulmonary lymphangiectasia, report of four autopsy cases and review of literature.

Toru HS, Sanhal CY, Yilmaz GT, Ozbudak IH, Mendilcioglu I, Ozbilim G.

J Matern Fetal Neonatal Med. 2015 Aug;28(12):1457-60. doi: 10.3109/14767058.2014.956719. Epub 2015 Jan 8. Review.

PMID:
25142108
11.

Malformation syndromes associated with disorders of sex development.

Hutson JM, Grover SR, O'Connell M, Pennell SD.

Nat Rev Endocrinol. 2014 Aug;10(8):476-87. doi: 10.1038/nrendo.2014.83. Epub 2014 Jun 10. Review.

PMID:
24913517
12.

The roles of cohesins in mitosis, meiosis, and human health and disease.

Brooker AS, Berkowitz KM.

Methods Mol Biol. 2014;1170:229-66. doi: 10.1007/978-1-4939-0888-2_11. Review.

13.

Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X).

Basehore MJ, Michaelson-Cohen R, Levy-Lahad E, Sismani C, Bird LM, Friez MJ, Walsh T, Abidi F, Holloway L, Skinner C, McGee S, Alexandrou A, Syrrou M, Patsalis PC, Raymond G, Wang T, Schwartz CE, King MC, Stevenson RE.

Clin Genet. 2015 May;87(5):461-6. doi: 10.1111/cge.12420. Epub 2014 May 30. Review.

PMID:
24805811
14.

Systemic therapeutic strategies for GEP-NETS: what can we expect in the future?

Raymond E, García-Carbonero R, Wiedenmann B, Grande E, Pavel M.

Cancer Metastasis Rev. 2014 Mar;33(1):367-72. doi: 10.1007/s10555-013-9467-z. Review.

PMID:
24375390
15.

The epigenetics of stroke recovery and rehabilitation: from polycomb to histone deacetylases.

Elder J, Cortes M, Rykman A, Hill J, Karuppagounder S, Edwards D, Ratan RR.

Neurotherapeutics. 2013 Oct;10(4):808-16. doi: 10.1007/s13311-013-0224-3. Review.

16.

X-linked mental deficiency.

des Portes V.

Handb Clin Neurol. 2013;111:297-306. doi: 10.1016/B978-0-444-52891-9.00035-X. Review.

PMID:
23622180
17.

The role of genetics in the establishment and maintenance of the epigenome.

Huidobro C, Fernandez AF, Fraga MF.

Cell Mol Life Sci. 2013 May;70(9):1543-73. doi: 10.1007/s00018-013-1296-2. Epub 2013 Mar 10. Review.

PMID:
23474979
18.

ATRX and the replication of structured DNA.

Clynes D, Gibbons RJ.

Curr Opin Genet Dev. 2013 Jun;23(3):289-94. doi: 10.1016/j.gde.2013.01.005. Epub 2013 Feb 28. Review.

PMID:
23453691
19.

Genetic syndromes caused by mutations in epigenetic genes.

Berdasco M, Esteller M.

Hum Genet. 2013 Apr;132(4):359-83. doi: 10.1007/s00439-013-1271-x. Epub 2013 Jan 31. Review.

PMID:
23370504
20.

New insights into the genetics of neuroblastoma.

Sridhar S, Al-Moallem B, Kamal H, Terrile M, Stallings RL.

Mol Diagn Ther. 2013 Apr;17(2):63-9. doi: 10.1007/s40291-013-0019-6. Review.

PMID:
23329364

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