Misceo D - Search Results

1

YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.

Gabriele M, Vulto-van Silfhout AT, Germain PL, Vitriolo A, Kumar R, Douglas E, Haan E, Kosaki K, Takenouchi T, Rauch A, Steindl K, Frengen E, Misceo D, Pedurupillay CRJ, Stromme P, Rosenfeld JA, Shao Y, Craigen WJ, Schaaf CP, Rodriguez-Buritica D, Farach L, Friedman J, Thulin P, McLean SD, Nugent KM, Morton J, Nicholl J, Andrieux J, Stray-Pedersen A, Chambon P, Patrier S, Lynch SA, Kjaergaard S, Tørring PM, Brasch-Andersen C, Ronan A, van Haeringen A, Anderson PJ, Powis Z, Brunner HG, Pfundt R, Schuurs-Hoeijmakers JHM, van Bon BWM, Lelieveld S, Gilissen C, Nillesen WM, Vissers LELM, Gecz J, Koolen DA, Testa G, de Vries BBA. Gabriele M, et al. Among authors: misceo d. Am J Hum Genet. 2017 Jun 1;100(6):907-925. doi: 10.1016/j.ajhg.2017.05.006. Am J Hum Genet. 2017. PMID: 28575647 Free PMC article.

2

[Structural variation in the human genome contributes to variation of traits].

Barøy T, Misceo D, Frengen E. Barøy T, et al. Among authors: misceo d. Tidsskr Nor Laegeforen. 2008 Sep 11;128(17):1951-5. Tidsskr Nor Laegeforen. 2008. PMID: 18787571 Free article. Review. Norwegian.

3

A de novo 6p interstitial deletion and a complex translocation involving chromosomes 2, 6, and 14 in a mildly developmentally delayed patient.

Misceo D, Bjørgo K, Ormerod E, Ringen Ø, Rocchi M, van der Hagen CB, Frengen E. Misceo D, et al. Am J Med Genet A. 2008 Dec 15;146A(24):3230-3. doi: 10.1002/ajmg.a.32582. Am J Med Genet A. 2008. PMID: 19012337 No abstract available.

4

A partial trisomy 1q patient with a deletion 1q22 and an insertion 1(q42q44) into 1q22.

Misceo D, Rocchi M, van der Hagen CB, Frengen E. Misceo D, et al. Am J Med Genet A. 2009 Feb;149A(2):290-3. doi: 10.1002/ajmg.a.32623. Am J Med Genet A. 2009. PMID: 19161140 Review. No abstract available.

5

SCA27 caused by a chromosome translocation: further delineation of the phenotype.

Misceo D, Fannemel M, Barøy T, Roberto R, Tvedt B, Jaeger T, Bryn V, Strømme P, Frengen E. Misceo D, et al. Neurogenetics. 2009 Oct;10(4):371-4. doi: 10.1007/s10048-009-0197-x. Epub 2009 May 27. Neurogenetics. 2009. PMID: 19471976

6

Inheritance of a terminal 7.1 Mb 18p deletion flanked by a 2.3 Mb duplication from a physically normal mother.

Misceo D, Orstavik KH, Lybaek H, Sandvig I, Ormerod E, Houge G, Frengen E. Misceo D, et al. Am J Med Genet A. 2009 Dec;149A(12):2877-81. doi: 10.1002/ajmg.a.33106. Am J Med Genet A. 2009. PMID: 19938092 No abstract available.

7

A de novo 15q13.2q13.3 deletion in a boy with an Angelman syndrome like phenotype.

Barøy T, Misceo D, Braaten O, Helle JR, Fannemel M, Strømme P, Frengen E. Barøy T, et al. Among authors: misceo d. Eur J Med Genet. 2010 Jul-Aug;53(4):221-4. doi: 10.1016/j.ejmg.2010.03.010. Epub 2010 Apr 9. Eur J Med Genet. 2010. PMID: 20382277

8

A translocation between Xq21.33 and 22q13.33 causes an intragenic SHANK3 deletion in a woman with Phelan-McDermid syndrome and hypergonadotropic hypogonadism.

Misceo D, Rødningen OK, Barøy T, Sorte H, Mellembakken JR, Strømme P, Fannemel M, Frengen E. Misceo D, et al. Am J Med Genet A. 2011 Feb;155A(2):403-8. doi: 10.1002/ajmg.a.33798. Epub 2011 Jan 14. Am J Med Genet A. 2011. PMID: 21271662

9

A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions.

Selmer KK, Gilfillan GD, Strømme P, Lyle R, Hughes T, Hjorthaug HS, Brandal K, Nakken S, Misceo D, Egeland T, Munthe LA, Braekken SK, Undlien DE. Selmer KK, et al. Among authors: misceo d. Eur J Hum Genet. 2012 Jan;20(1):58-63. doi: 10.1038/ejhg.2011.126. Epub 2011 Jun 29. Eur J Hum Genet. 2012. PMID: 21712855 Free PMC article.

10

A 1 Mb de novo deletion within 11q13.1q13.2 in a boy with mild intellectual disability and minor dysmorphic features.

Floor K, Barøy T, Misceo D, Kanavin OJ, Fannemel M, Frengen E. Floor K, et al. Among authors: misceo d. Eur J Med Genet. 2012 Dec;55(12):695-9. doi: 10.1016/j.ejmg.2012.08.002. Epub 2012 Aug 30. Eur J Med Genet. 2012. PMID: 22986108

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