Publications by authors named "Trijnie Dijkhuizen"

30Publications

Copy number variation in a hospital-based cohort of children with epilepsy.

Epilepsia Open 2017 06 8;2(2):244-254. Epub 2017 May 8.

Department of Genetics University Medical Center Groningen University of Groningen Groningen the Netherlands.

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http://dx.doi.org/10.1002/epi4.12057DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5719854PMC
June 2017

Central 22q11.2 deletions.

Am J Med Genet A 2014 Nov 14;164A(11):2707-23. Epub 2014 Aug 14.

University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.36711DOI Listing
November 2014

Bilateral polymicrogyria as the indicative feature in a child with a 22q11.2 deletion.

Eur J Med Genet 2010 Sep-Oct;53(5):344-6. Epub 2010 May 27.

Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212100004
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http://dx.doi.org/10.1016/j.ejmg.2010.05.003DOI Listing
January 2011

An interstitial duplication of chromosome 13q31.3q32.1 further delineates the critical region for postaxial polydactyly type A2.

Eur J Med Genet 2010 Jan-Feb;53(1):45-9. Epub 2009 Nov 23.

Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

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http://dx.doi.org/10.1016/j.ejmg.2009.11.003DOI Listing
April 2010

Germline hypermethylation of MLH1 and EPCAM deletions are a frequent cause of Lynch syndrome.

Genes Chromosomes Cancer 2009 Aug;48(8):737-44

Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

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http://dx.doi.org/10.1002/gcc.20678DOI Listing
August 2009

A 649 kb microduplication in 1p34.1, including POMGNT1, in a patient with microcephaly, coloboma and laryngomalacia; and a review of the literature.

Eur J Med Genet 2009 Mar-Jun;52(2-3):116-9

Department of Genetics, CB50, University Medical Centre Groningen, University of Groningen, PO Box 30.001, 9700 RB Groningen, The Netherlands.

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http://dx.doi.org/10.1016/j.ejmg.2009.01.005DOI Listing
September 2009

The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome: report on two patients and review of the literature.

Eur J Med Genet 2009 Mar-Jun;52(2-3):140-4. Epub 2009 Mar 26.

Department of Human Genetics, Hadassah Hebrew University Medical Center, Jerusalem 91120, Israel.

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http://linkinghub.elsevier.com/retrieve/pii/S176972120900026
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http://dx.doi.org/10.1016/j.ejmg.2009.03.011DOI Listing
September 2009

A unique 970kb microdeletion in 9q33.3, including the NR5A1 gene in a 46,XY female.

Eur J Med Genet 2009 Mar-Jun;52(2-3):157-60. Epub 2009 Mar 6.

Department of Genetics, University Medical Centre Groningen, University of Groningen, The Netherlands.

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http://dx.doi.org/10.1016/j.ejmg.2009.02.009DOI Listing
September 2009

Application of a comprehensive subtelomere array in clinical diagnosis of mental retardation.

Eur J Med Genet 2005 Jul-Sep;48(3):250-62

Department of Clinical Genetics, University Medical Centre Groningen, Antonius Deusinglaan 4, 9713 AW Groningen, The Netherlands.

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http://dx.doi.org/10.1016/j.ejmg.2005.04.007DOI Listing
November 2005

Molecular cytogenetic analysis of clustered sporadic and familial renal cell carcinoma-associated 3q13 approximately q22 breakpoints.

Cancer Genet Cytogenet 2002 Jul;136(2):95-100

Department of Human Genetics, University Medical Center Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/s0165-4608(02)00517-4DOI Listing
July 2002

Structural and functional genomics of the CPT1B gene for muscle-type carnitine palmitoyltransferase I in mammals.

J Biol Chem 2002 Jul 15;277(30):26994-7005. Epub 2002 May 15.

Department of Pediatrics, Groningen University Institute for Drug Exploration, University of Groningen and Beatrix Children's Hospital, Groningen 9700RB, The Netherlands.

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http://dx.doi.org/10.1074/jbc.M203189200DOI Listing
July 2002