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Items: 9


Chromosome loci vary by juvenile myoclonic epilepsy subsyndromes: linkage and haplotype analysis applied to epilepsy and EEG 3.5-6.0 Hz polyspike waves.

Wight JE, Nguyen VH, Medina MT, Patterson C, Durón RM, Molina Y, Lin YC, Martínez-Juárez IE, Ochoa A, Jara-Prado A, Tanaka M, Bai D, Aftab S, Bailey JN, Delgado-Escueta AV.

Mol Genet Genomic Med. 2016 Jan 23;4(2):197-210. doi: 10.1002/mgg3.195. eCollection 2016 Mar.


Angelman-Like Syndrome: A Genetic Approach to Diagnosis with Illustrative Cases.

Luk HM.

Case Rep Genet. 2016;2016:9790169. doi: 10.1155/2016/9790169. Epub 2016 Jan 28.


A de novo triplication on 2q22.3 including the entire ZEB2 gene associated with global developmental delay, multiple congenital anomalies and behavioral abnormalities.

Yuan H, Zhang L, Chen M, Zhu J, Meng Z, Liang L.

Mol Cytogenet. 2015 Dec 23;8:99. doi: 10.1186/s13039-015-0206-8. eCollection 2015.


Aptamers and their potential to selectively target aspects of EGF, Wnt/β-catenin and TGFβ-smad family signaling.

Conidi A, van den Berghe V, Huylebroeck D.

Int J Mol Sci. 2013 Mar 26;14(4):6690-719. doi: 10.3390/ijms14046690. Review.


Transcription factor pathways and congenital heart disease.

McCulley DJ, Black BL.

Curr Top Dev Biol. 2012;100:253-77. doi: 10.1016/B978-0-12-387786-4.00008-7. Review.


Avoiding pitfalls in molecular genetic testing: case studies of high-resolution array comparative genomic hybridization testing in the definitive diagnosis of Mowat-Wilson syndrome.

Kluk MJ, An Y, James P, Coulter D, Harris D, Wu BL, Shen Y.

J Mol Diagn. 2011 May;13(3):363-7. doi: 10.1016/j.jmoldx.2011.01.008.


Clinical utility gene card for: Mowat-Wilson syndrome.

Zollino M, Garavelli L, Rauch A.

Eur J Hum Genet. 2011 Aug;19(8). doi: 10.1038/ejhg.2011.12. Epub 2011 Feb 23. No abstract available.


Cranial neural crest cells on the move: their roles in craniofacial development.

Cordero DR, Brugmann S, Chu Y, Bajpai R, Jame M, Helms JA.

Am J Med Genet A. 2011 Feb;155A(2):270-9. doi: 10.1002/ajmg.a.33702. Epub 2010 Dec 10. Review.


High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysis.

Gervasini C, Mottadelli F, Ciccone R, Castronovo P, Milani D, Scarano G, Bedeschi MF, Belli S, Pilotta A, Selicorni A, Zuffardi O, Larizza L.

Eur J Hum Genet. 2010 Jul;18(7):768-75. doi: 10.1038/ejhg.2010.1. Epub 2010 Feb 3.

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