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Items: 1 to 20 of 219


Expanding the phenotype of reciprocal 1q21.1 deletions and duplications: a case series.

Busè M, Cuttaia HC, Palazzo D, Mazara MV, Lauricella SA, Malacarne M, Pierluigi M, Cavani S, Piccione M.

Ital J Pediatr. 2017 Jul 19;43(1):61. doi: 10.1186/s13052-017-0380-x.


Potential Value of Genomic Copy Number Variations in Schizophrenia.

Zhuo C, Hou W, Lin C, Hu L, Li J.

Front Mol Neurosci. 2017 Jun 21;10:204. doi: 10.3389/fnmol.2017.00204. eCollection 2017. Review.


Role of Genetics in the Etiology of Autistic Spectrum Disorder: Towards a Hierarchical Diagnostic Strategy.

Robert C, Pasquier L, Cohen D, Fradin M, Canitano R, Damaj L, Odent S, Tordjman S.

Int J Mol Sci. 2017 Mar 12;18(3). pii: E618. doi: 10.3390/ijms18030618. Review.


The birth of a human-specific neural gene by incomplete duplication and gene fusion.

Dougherty ML, Nuttle X, Penn O, Nelson BJ, Huddleston J, Baker C, Harshman L, Duyzend MH, Ventura M, Antonacci F, Sandstrom R, Dennis MY, Eichler EE.

Genome Biol. 2017 Mar 9;18(1):49. doi: 10.1186/s13059-017-1163-9.


Clinical and molecular cytogenetic analyses of four families with 1q21.1 microdeletion or microduplication.

Wang HD, Liu L, Wu D, Li T, Cui CY, Zhang LZ, Wang CZ.

J Gene Med. 2017 Apr;19(4). doi: 10.1002/jgm.2948.


Chromosomal Microarrays: Understanding Genetics of Neurodevelopmental Disorders and Congenital Anomalies.

Rosenfeld JA, Patel A.

J Pediatr Genet. 2017 Mar;6(1):42-50. doi: 10.1055/s-0036-1584306. Epub 2016 May 30. Review.


Dosage sensitivity is a major determinant of human copy number variant pathogenicity.

Rice AM, McLysaght A.

Nat Commun. 2017 Feb 8;8:14366. doi: 10.1038/ncomms14366.


A replication study of schizophrenia-related rare copy number variations in a Han Southern Chinese population.

Yuan J, Hu J, Li Z, Zhang F, Zhou D, Jin C.

Hereditas. 2017 Jan 14;154:2. doi: 10.1186/s41065-016-0025-x. eCollection 2017.


What Is New in Genetics of Congenital Heart Defects?

Digilio MC, Marino B.

Front Pediatr. 2016 Dec 1;4:120. eCollection 2016. Review.


Interstitial 1q21.1 Microdeletion Is Associated with Severe Skeletal Anomalies, Dysmorphic Face and Moderate Intellectual Disability.

Gamba BF, Zechi-Ceide RM, Kokitsu-Nakata NM, Vendramini-Pittoli S, Rosenberg C, Krepischi Santos AC, Ribeiro-Bicudo L, Richieri-Costa A.

Mol Syndromol. 2016 Nov;7(6):344-348. Epub 2016 Oct 26.


Haploinsufficiency for Core Exon Junction Complex Components Disrupts Embryonic Neurogenesis and Causes p53-Mediated Microcephaly.

Mao H, McMahon JJ, Tsai YH, Wang Z, Silver DL.

PLoS Genet. 2016 Sep 12;12(9):e1006282. doi: 10.1371/journal.pgen.1006282. eCollection 2016 Sep.


Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.

Leppa VM, Kravitz SN, Martin CL, Andrieux J, Le Caignec C, Martin-Coignard D, DyBuncio C, Sanders SJ, Lowe JK, Cantor RM, Geschwind DH.

Am J Hum Genet. 2016 Sep 1;99(3):540-554. doi: 10.1016/j.ajhg.2016.06.036. Epub 2016 Aug 25.


Cytogenomic Aberrations in Congenital Cardiovascular Malformations.

Azamian M, Lalani SR.

Mol Syndromol. 2016 May;7(2):51-61. doi: 10.1159/000445788. Epub 2016 Apr 26. Review.


CNV analysis in Chinese children of mental retardation highlights a sex differentiation in parental contribution to de novo and inherited mutational burdens.

Wang B, Ji T, Zhou X, Wang J, Wang X, Wang J, Zhu D, Zhang X, Sham PC, Zhang X, Ma X, Jiang Y.

Sci Rep. 2016 Jun 3;6:25954. doi: 10.1038/srep25954.


The exon junction complex in neural development and neurodevelopmental disease.

McMahon JJ, Miller EE, Silver DL.

Int J Dev Neurosci. 2016 Dec;55:117-123. doi: 10.1016/j.ijdevneu.2016.03.006. Epub 2016 Apr 9. Review.


Double, Double Toil and Trouble.

Poot M.

Mol Syndromol. 2015 Sep;6(3):106-7. doi: 10.1159/000437009. Epub 2015 Jul 21. No abstract available.


Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome Rearrangements.

Poot M, Haaf T.

Mol Syndromol. 2015 Sep;6(3):110-34. doi: 10.1159/000438812. Epub 2015 Aug 15. Review.


Integrating Diverse Types of Genomic Data to Identify Genes that Underlie Adverse Pregnancy Phenotypes.

Hirbo J, Eidem H, Rokas A, Abbot P.

PLoS One. 2015 Dec 7;10(12):e0144155. doi: 10.1371/journal.pone.0144155. eCollection 2015.

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