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Items: 1 to 20 of 158

1.

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.

2.

Assessment of large copy number variants in patients with apparently isolated congenital left-sided cardiac lesions reveals clinically relevant genomic events.

Hanchard NA, Umana LA, D'Alessandro L, Azamian M, Poopola M, Morris SA, Fernbach S, Lalani SR, Towbin JA, Zender GA, Fitzgerald-Butt S, Garg V, Bowman J, Zapata G, Hernandez P, Arrington CB, Furthner D, Prakash SK, Bowles NE, McBride KL, Belmont JW.

Am J Med Genet A. 2017 Aug;173(8):2176-2188. doi: 10.1002/ajmg.a.38309. Epub 2017 Jun 27.

PMID:
28653806
3.

Genetic Approaches to Understanding Psychiatric Disease.

Michaelson JJ.

Neurotherapeutics. 2017 Jul;14(3):564-581. doi: 10.1007/s13311-017-0551-x. Review.

PMID:
28608171
4.

Genetics of Congenital Anomalies of the Kidney and Urinary Tract: The Current State of Play.

Capone VP, Morello W, Taroni F, Montini G.

Int J Mol Sci. 2017 Apr 11;18(4). pii: E796. doi: 10.3390/ijms18040796. Review.

5.

Genomic Disorders and Neurocognitive Impairment in Pediatric CKD.

Verbitsky M, Kogon AJ, Matheson M, Hooper SR, Wong CS, Warady BA, Furth SL, Gharavi AG.

J Am Soc Nephrol. 2017 Aug;28(8):2303-2309. doi: 10.1681/ASN.2016101108. Epub 2017 Mar 27.

PMID:
28348065
6.

Oxidative stress-driven parvalbumin interneuron impairment as a common mechanism in models of schizophrenia.

Steullet P, Cabungcal JH, Coyle J, Didriksen M, Gill K, Grace AA, Hensch TK, LaMantia AS, Lindemann L, Maynard TM, Meyer U, Morishita H, O'Donnell P, Puhl M, Cuenod M, Do KQ.

Mol Psychiatry. 2017 Jul;22(7):936-943. doi: 10.1038/mp.2017.47. Epub 2017 Mar 21.

7.

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.

8.

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.

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.

10.

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.

PMID:
28180026
11.

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.

12.

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.

13.

Genetic control of postnatal human brain growth.

van Dyck LI, Morrow EM.

Curr Opin Neurol. 2017 Feb;30(1):114-124. doi: 10.1097/WCO.0000000000000405.

PMID:
27898583
14.

Mouse models of Casc3 reveal developmental functions distinct from other components of the exon junction complex.

Mao H, Brown HE, Silver DL.

RNA. 2017 Jan;23(1):23-31. Epub 2016 Oct 25.

PMID:
27780844
15.

Neuropsychiatric genomics in precision medicine: diagnostics, gene discovery, and translation.

Need AC, Goldstein DB.

Dialogues Clin Neurosci. 2016 Sep;18(3):237-252. Review.

16.
17.

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.

18.

Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes.

Loviglio MN, Leleu M, Männik K, Passeggeri M, Giannuzzi G, van der Werf I, Waszak SM, Zazhytska M, Roberts-Caldeira I, Gheldof N, Migliavacca E, Alfaiz AA, Hippolyte L, Maillard AM; 2p15 Consortium; 16p11.2 Consortium, Van Dijck A, Kooy RF, Sanlaville D, Rosenfeld JA, Shaffer LG, Andrieux J, Marshall C, Scherer SW, Shen Y, Gusella JF, Thorsteinsdottir U, Thorleifsson G, Dermitzakis ET, Deplancke B, Beckmann JS, Rougemont J, Jacquemont S, Reymond A.

Mol Psychiatry. 2017 Jun;22(6):836-849. doi: 10.1038/mp.2016.84. Epub 2016 May 31.

19.

New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants.

Cappuccio G, Vitiello F, Casertano A, Fontana P, Genesio R, Bruzzese D, Ginocchio VM, Mormile A, Nitsch L, Andria G, Melis D.

Ital J Pediatr. 2016 Apr 12;42:39. doi: 10.1186/s13052-016-0246-7.

20.

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.

PMID:
27071691

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