Jacqueline Schoumans

Jacqueline Schoumans

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Jacqueline Schoumans

Jacqueline Schoumans

Publications by authors named "Jacqueline Schoumans"

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55Publications

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Laboratory Genetic Testing in Clinical Practice 2016.

Biomed Res Int 2017 4;2017:5798714. Epub 2017 Jan 4.

Department of Medical Genetics, Faculty of Medicine, Ege University, 35100 Izmir, Turkey.

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http://dx.doi.org/10.1155/2017/5798714DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5241493PMC
February 2017

Guidelines for genomic array analysis in acquired haematological neoplastic disorders.

Genes Chromosomes Cancer 2016 May 23;55(5):480-91. Epub 2016 Feb 23.

Department of Human Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1002/gcc.22350DOI Listing
May 2016

Evolution of genetic techniques: past, present, and beyond.

Biomed Res Int 2015 22;2015:461524. Epub 2015 Mar 22.

Department of Medical Genetics, Ege University Faculty of Medicine, 35100 Izmir, Turkey.

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http://dx.doi.org/10.1155/2015/461524DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4385642PMC
December 2015

Laboratory genetic testing in clinical practice 2014.

Biomed Res Int 2015 24;2015:574798. Epub 2015 Mar 24.

Department of Medical Genetics, Faculty of Medicine, Ege University, 35100 Izmir, Turkey.

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http://dx.doi.org/10.1155/2015/574798DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4387964PMC
December 2015

CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance.

Hum Genet 2014 Aug 13;133(8):997-1009. Epub 2014 Apr 13.

Institute of Human Genetics, University Medical Center Göttingen, Heinrich-Düker-Weg 12, 37073, Göttingen, Germany.

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http://dx.doi.org/10.1007/s00439-014-1444-2DOI Listing
August 2014

Genome-wide arrays in routine diagnostics of hematological malignancies.

Hum Mutat 2012 Jun 9;33(6):941-8. Epub 2012 Apr 9.

Laboratory of Tumor Genetics, Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands.

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http://doi.wiley.com/10.1002/humu.22057
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http://dx.doi.org/10.1002/humu.22057DOI Listing
June 2012

22q11.2 microduplication in two patients with bladder exstrophy and hearing impairment.

Eur J Med Genet 2010 Mar-Apr;53(2):61-5. Epub 2010 Jan 4.

Department of Woman and Child Health, Karolinska Institutet, Stockholm, Sweden.

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http://dx.doi.org/10.1016/j.ejmg.2009.11.004DOI Listing
July 2010

Laboratory methods for the detection of chromosomal abnormalities.

Methods Mol Biol 2010 ;628:53-73

Department of Molecular Medicine & Surgery, Karolinska Institute, Stockholm, Sweden.

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http://dx.doi.org/10.1007/978-1-60327-367-1_4DOI Listing
May 2010

Molecular and clinical characterization of patients with overlapping 10p deletions.

Am J Med Genet A 2010 May;152A(5):1233-43

Clinical Genetics Unit, Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.

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http://dx.doi.org/10.1002/ajmg.a.33366DOI Listing
May 2010

De novo deletion of chromosome 11q13.4-q14.3 in a boy with microcephaly, ptosis and developmental delay.

Eur J Med Genet 2010 Jan-Feb;53(1):50-3. Epub 2009 Oct 24.

Department of Molecular Medicine and Surgery and Center for Molecular Medicine, CMM L8:02, Karolinska Institutet, Karolinska University Hospital, 171 76 Stockholm, Sweden.

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http://dx.doi.org/10.1016/j.ejmg.2009.10.003DOI Listing
April 2010

Characterization of double ring chromosome 4 mosaicism associated with bilateral hip dislocation, cortical dysgenesis, and epilepsy.

Am J Med Genet A 2009 Dec;149A(12):2782-7

Afyon Kocatepe University Faculty of Medicine, Department of Medical Genetics, Morfoloji Binasi Ali Cetinkaya Kampüsü Izmir yolu 8.km., 03200 Afyonkarahisar, Turkey.

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http://dx.doi.org/10.1002/ajmg.a.33069DOI Listing
December 2009

An interstitial deletion of 7.1Mb in chromosome band 6p22.3 associated with developmental delay and dysmorphic features including heart defects, short neck, and eye abnormalities.

Eur J Med Genet 2009 Sep-Oct;52(5):358-62. Epub 2009 Jul 1.

Department of Molecular Medicine and Surgery, Karolinska University Hospital, Stockholm, Sweden.

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http://dx.doi.org/10.1016/j.ejmg.2009.06.002DOI Listing
November 2009

Development of a multiplex ligation-dependent probe amplification assay for diagnosis and estimation of the frequency of spinocerebellar ataxia type 15.

Clin Chem 2009 Jul 7;55(7):1415-8. Epub 2009 May 7.

Victorian Clinical Genetic Services and Murdoch Children's Research Institute, University of Melbourne, Department of Paediatrics, Royal Children's Hospital, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1373/clinchem.2009.124958DOI Listing
July 2009

Isolated 46,XY gonadal dysgenesis in two sisters caused by a Xp21.2 interstitial duplication containing the DAX1 gene.

J Clin Endocrinol Metab 2007 Aug 15;92(8):3305-13. Epub 2007 May 15.

Department of Molecular Medicine and Surgery, Karolinska Institutet, 17176 Stockholm, Sweden.

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https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.
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http://dx.doi.org/10.1210/jc.2007-0505DOI Listing
August 2007

Duplication 16q12.1-q22.1 characterized by array CGH in a girl with spina bifida.

Eur J Med Genet 2007 May-Jun;50(3):237-41. Epub 2007 Feb 21.

Department of Molecular Medicine and Surgery, Center for Molecular Medicine, L8:02, Karolinska University Hospital, Stockholm, Sweden.

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http://dx.doi.org/10.1016/j.ejmg.2007.01.004DOI Listing
July 2007

Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients.

Eur J Hum Genet 2007 Feb 15;15(2):143-9. Epub 2006 Nov 15.

Department of Molecular Medicine and Surgery, Karolinska Institute, Karolinska University Hospital Solna, Stockholm, Sweden.

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http://dx.doi.org/10.1038/sj.ejhg.5201737DOI Listing
February 2007

Long-term culture of human urothelial cells--a qualitative analysis.

Cells Tissues Organs 2005 ;181(1):11-22

Department of Molecular Medicine, Karolinska University Hospital, SE-171 76 Stockholm, Sweden.

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https://www.karger.com/Article/FullText/89965
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http://dx.doi.org/10.1159/000089965DOI Listing
March 2006

Detailed clinical description of four patients with 1.3 and 2.1 Mb chromosome imbalances derived from a familial t(12;17)(q24.33;q25.3).

Am J Med Genet A 2005 Apr;134(3):254-8

Department of Molecular Medicine, Clinical Genetics Unit, Karolinska Institute, Stockholm, Sweden.

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http://doi.wiley.com/10.1002/ajmg.a.30611
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http://dx.doi.org/10.1002/ajmg.a.30611DOI Listing
April 2005

Spectral karyotyping of sarcomas and fibroblasts derived from Ink4a/Arf-deficient mice reveals chromosomal instability in vitro.

Int J Oncol 2005 Mar;26(3):629-34

Laboratory of Cell Signaling and Carcinogenesis, Van Andel Research Institute, Grand Rapids, MI 49503, USA.

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March 2005

A comparison of different metaphase CGH methods for the detection of cryptic chromosome aberrations of defined size.

Eur J Hum Genet 2004 Jun;12(6):447-54

Department of Molecular Medicine, Clinical Genetics Unit, Karolinska Institute, CMM L8:02, Stockholm SE-17176, Sweden.

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http://dx.doi.org/10.1038/sj.ejhg.5201175DOI Listing
June 2004

Molecular cytogenetic approach to the diagnosis of splenic lymphoma: a case report of blastoid mantle cell lymphoma.

Leuk Lymphoma 2003 Jul;44(7):1229-34

Department of Molecular Medicine, CMM L8:02 Karolinska Hospital and Institutet, SE-171 76, Stockholm, Sweden.

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http://dx.doi.org/10.1080/1042819031000077061DOI Listing
July 2003

Ten years follow up of a boy with a complex chromosomal rearrangement: going from a > 5 to 15-breakpoint CCR.

Am J Med Genet A 2003 Apr;118A(3):235-40

Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway.

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http://dx.doi.org/10.1002/ajmg.a.10106DOI Listing
April 2003

Cryptic subtelomeric 6p deletion in a girl with congenital malformations and severe language impairment.

Eur J Hum Genet 2003 Jan;11(1):89-92

Department of Molecular Medicine, Clinical Genetics Unit, Karolinska Institutet at Karolinska Hospital, Stockholm, Sweden.

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http://dx.doi.org/10.1038/sj.ejhg.5200907DOI Listing
January 2003

FISH-mapping of a 100-kb terminal 22q13 deletion.

Hum Genet 2002 May 4;110(5):439-43. Epub 2002 Apr 4.

Department of Molecular Medicine, CMM, L8:02, Clinical Genetics Unit, Karolinska Institutet at Karolinska Hospital, 171 76 Stockholm, Sweden.

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http://dx.doi.org/10.1007/s00439-002-0713-7DOI Listing
May 2002