Publications by authors named "Doriana Misceo"

45Publications

A girl with a neurodevelopmental syndrome, adducted thumbs and frequent infections caused by novel homozygous variant in DEAF1.

Clin Dysmorphol 2020 Apr;29(2):107-110

Department of Paediatric Neurology, Division of Paediatric and Adolescent Medicine, Oslo University Hospital.

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http://dx.doi.org/10.1097/MCD.0000000000000314DOI Listing
April 2020

TBCK Encephaloneuropathy With Abnormal Lysosomal Storage: Use of a Structural Variant Bioinformatics Pipeline on Whole-Genome Sequencing Data Unravels a 20-Year-Old Clinical Mystery.

Pediatr Neurol 2019 07 13;96:74-75. Epub 2019 Feb 13.

Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2019.02.001DOI Listing
July 2019

Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2.

Neuromuscul Disord 2016 09 22;26(9):570-5. Epub 2016 Jun 22.

Faculty of Medicine, University of Oslo, Oslo, Norway; Women and Children's Division, Department of Clinical Neurosciences for Children, Oslo University Hospital, Oslo, Norway. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2016.06.457DOI Listing
September 2016

A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13.

Eur J Med Genet 2016 Jun 13;59(6-7):342-6. Epub 2016 May 13.

Department of Medical Genetics, Oslo University Hospital and University of Oslo, 0407, Oslo, Norway. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2016.05.005DOI Listing
June 2016

A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms.

Mol Cytogenet 2015 31;8:57. Epub 2015 Jul 31.

Department of Medical Genetics, University of Oslo and Oslo University Hospital, P.O.Box 1036, Blindern, N-0315 Oslo, Norway.

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http://dx.doi.org/10.1186/s13039-015-0157-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4521466PMC
August 2015

Haploinsufficiency of ANO6, NELL2 and DBX2 in a boy with intellectual disability and growth delay.

Am J Med Genet A 2015 Aug 6;167A(8):1890-6. Epub 2015 Apr 6.

Department of Medical Genetics, Oslo University Hospital, University of Oslo, Oslo, Norway.

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http://dx.doi.org/10.1002/ajmg.a.37079DOI Listing
August 2015

Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B.

Am J Med Genet A 2015 Mar;167A(3):657-63

Department of Medical Genetics, Oslo University Hospital and University of Oslo, Norway.

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http://dx.doi.org/10.1002/ajmg.a.36944DOI Listing
March 2015

Haploinsufficiency of XPO1 and USP34 by a de novo 230 kb deletion in 2p15, in a patient with mild intellectual disability and cranio-facial dysmorphisms.

Eur J Med Genet 2014 Sep 7;57(9):513-9. Epub 2014 Jun 7.

Department of Medical Genetics, University of Oslo and Oslo University Hospital, Oslo, Norway. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.05.008DOI Listing
September 2014

A dominant STIM1 mutation causes Stormorken syndrome.

Hum Mutat 2014 May 9;35(5):556-64. Epub 2014 Apr 9.

Department of Medical Genetics, University of Oslo and Oslo University Hospital, Oslo, Norway.

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http://dx.doi.org/10.1002/humu.22544DOI Listing
May 2014

Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions.

PLoS One 2014 22;9(1):e86340. Epub 2014 Jan 22.

Department of Clinical Medicine, University of Bergen, Bergen, Norway ; Department of Neurology, Haukeland University Hospital, Bergen, Norway.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0086340PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3899233PMC
November 2014

A balanced de novo inv(7)(p14.3q22.3) disrupting PDE1C and ATXN7L1 in a 14-year old developmentally delayed boy.

Eur J Med Genet 2013 Jul 9;56(7):361-4. Epub 2013 May 9.

Department of Medical Genetics, Oslo University Hospital and University of Oslo, Norway.

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http://dx.doi.org/10.1016/j.ejmg.2013.04.005DOI Listing
July 2013

Hyperphagia, mild developmental delay but apparently no structural brain anomalies in a boy without SOX3 expression.

Am J Med Genet A 2013 May 5;161A(5):1137-42. Epub 2013 Mar 5.

Faculty of Medicine, Department of Medical Genetics, University of Oslo, Blindern, Oslo, Norway.

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http://doi.wiley.com/10.1002/ajmg.a.35823
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http://dx.doi.org/10.1002/ajmg.a.35823DOI Listing
May 2013

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

Eur J Med Genet 2012 Dec 30;55(12):695-9. Epub 2012 Aug 30.

Department of Medical Genetics, Institute of Clinical Medicine, University of Oslo, Norway.

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http://dx.doi.org/10.1016/j.ejmg.2012.08.002DOI Listing
December 2012

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

Eur J Med Genet 2010 Jul-Aug;53(4):221-4. Epub 2010 Apr 9.

Institute of Medical Genetics, Faculty of Medicine, University of Oslo, Norway.

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http://dx.doi.org/10.1016/j.ejmg.2010.03.010DOI Listing
October 2010

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

Am J Med Genet A 2009 Dec;149A(12):2877-81

Faculty of Medicine, Institute of Medical Genetics, University of Oslo, Oslo, Norway.

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http://dx.doi.org/10.1002/ajmg.a.33106DOI Listing
December 2009

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

Am J Med Genet A 2009 Feb;149A(2):290-3

Department of Medical Genetics, Ullevål University Hospital and Faculty of Medicine, University of Oslo, Oslo, Norway.

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http://dx.doi.org/10.1002/ajmg.a.32623DOI Listing
February 2009

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

Am J Med Genet A 2008 Dec;146A(24):3230-3

Department of Medical Genetics, Ullevål University Hospital and Faculty of Medicine, University of Oslo, Oslo, Norway.

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http://dx.doi.org/10.1002/ajmg.a.32582DOI Listing
December 2008

Refinement of macaque synteny arrangement with respect to the official rheMac2 macaque sequence assembly.

Chromosome Res 2008 10;16(7):977-85. Epub 2008 Oct 10.

Department of Genetics and Microbiology, University of Bari, Via Amendola 165/A, 70126, Bari, Italy.

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http://dx.doi.org/10.1007/s10577-008-1255-1DOI Listing
January 2009

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

Tidsskr Nor Laegeforen 2008 Sep;128(17):1951-5

Avdeling for medisinsk genetikk, Ullevål universitetssykehus, Oslo.

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September 2008

Evolutionary history of chromosome 20.

Mol Biol Evol 2005 Feb 20;22(2):360-6. Epub 2004 Oct 20.

Sezione di Genetica, DAPEG, Italy.

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http://dx.doi.org/10.1093/molbev/msi021DOI Listing
February 2005

Refinement of a chimpanzee pericentric inversion breakpoint to a segmental duplication cluster.

Genome Biol 2003 15;4(8):R50. Epub 2003 Jul 15.

Department of Genetics, Center for Computational Genomics, Case Western Reserve University School of Medicine, University Hospitals of Cleveland, Cleveland, OH 44106, USA.

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http://dx.doi.org/10.1186/gb-2003-4-8-r50DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC193642PMC
November 2003

Human chromosome 16 conservation in primates.

Chromosome Res 2003 ;11(4):323-6

Sezione di Genetica, DAPEG, Via Amendola 165/A 70126 Bari, Italy.

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http://dx.doi.org/10.1023/a:1024087823030DOI Listing
March 2004

Human-specific duplication and mosaic transcripts: the recent paralogous structure of chromosome 22.

Am J Hum Genet 2002 Jan 30;70(1):83-100. Epub 2001 Nov 30.

Department of Genetics and Center for Human Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, OH, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S000292970761285
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http://dx.doi.org/10.1086/338458DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC419985PMC
January 2002