Expanding the phenotype of reciprocal 1q21.1 deletions and duplications: a case series-Reference-Cited by-同舟云学术

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

Published:2017-07-19 Issue:1 Volume:43 Page:
ISSN:1824-7288
Container-title:Italian Journal of Pediatrics
language:en
Short-container-title:Ital J Pediatr

Author:

Busè Martina^ORCID,Cuttaia Helenia C.,Palazzo Daniela,Mazara Marcella V.,Lauricella Salvatrice A.,Malacarne Michela,Pierluigi Mauro,Cavani Simona,Piccione Maria

Publisher

Springer Science and Business Media LLC

Subject

General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13052-017-0380-x.pdf

Reference17 articles.

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2. Shaw-Smith C, Redon R, Rickman L, Rio M, Willatt L, Fiegler H, Firth H, Sanlaville D, Winter R, Colleaux L, Bobrow M, Carter NP. Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features. J Med Genet. 2004;41:241–8.

3. Friedman JM, Baross A, Delaney AD, Ally A, Arbour L, Asano J, Bailey DK, Barber S, Birch P, Brown-John M, Cao M, Chan S, Charest DL, Farnoud N, Fernandes N, Flibotte S, Go A, Gibson WT, Holt RA, Jones SJM, Kennedy GC, Krzywinski M, Langlois S, Li HI, McGillivray BC, Nayar T, Pugh TJ, Rajcan-Separovic E, Schein JE, Schnerch A, Siddiqui A, Van Allen MI, Wilson G, Yong SL, Zahir F, Eydoux P, Marra MA. Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation. Am J Hum Genet. 2006;79:500–13.

4. Koolen DA, Pfundt R, de Leeuw N, Hehir-Kwa JY, Nillesen WM, Neefs I, Scheltinga I, Sistermans E, Smeets D, Brunner HG, van Kessel AG, Veltman JA, de Vries BBA. Genomic microarrays in mental retardation: a practical workflow for diagnostic applications. Hum Mutat. 2009;30:283–92.

5. Christiansen J, Dyck JD, Elyas BG, Lilley M, Bamforth JS, Hicks M, Sprysak KA, Tomaszewski R, Haase SM, Vicen-Wyhony LM, Somerville MJ. Chromosome 1q21. 1 contiguous gene deletion is associated with congenital heart disease. Circ Res. 2004;94(11):1429–35.

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