Martin Poot

Martin Poot

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Martin Poot

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Genes, Proteins, and Biological Pathways Preventing Chromothripsis.

Authors:
Martin Poot

Methods Mol Biol 2018 ;1769:231-251

Department of Human Genetics, University of Würzburg, Würzburg, Germany.

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http://dx.doi.org/10.1007/978-1-4939-7780-2_15DOI Listing
February 2019

Structural Genome Variations Related to Craniosynostosis.

Authors:
Martin Poot

Mol Syndromol 2019 Feb 7;10(1-2):24-39. Epub 2018 Jul 7.

Department of Human Genetics, University of Würzburg, Würzburg, Germany.

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https://www.karger.com/Article/FullText/490480
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http://dx.doi.org/10.1159/000490480DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6422139PMC
February 2019

The Right Gene, Expressed at the Wrong Time, or at the Wrong Place.

Authors:
Martin Poot

Mol Syndromol 2019 Jan 24;9(5):225-227. Epub 2018 Aug 24.

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http://dx.doi.org/10.1159/000492608DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6362855PMC
January 2019

Syndromes Hidden within the 16p11.2 Deletion Region.

Authors:
Martin Poot

Mol Syndromol 2018 Jul 13;9(4):171-174. Epub 2018 Jul 13.

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http://dx.doi.org/10.1159/000490845DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6103351PMC
July 2018

Intragenic Deletions May Involve Enhancer Sequences and Alter Expression.

Authors:
Martin Poot

Mol Syndromol 2018 May 9;9(3):119-121. Epub 2018 May 9.

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http://dx.doi.org/10.1159/000489004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6006651PMC
May 2018

Scratching the Surface of Werner Syndrome and Human Ageing.

Authors:
Martin Poot

Mol Syndromol 2017 Dec 23;9(1):1-4. Epub 2017 Nov 23.

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http://dx.doi.org/10.1159/000484424DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5803710PMC
December 2017

Neocentromeres to the Rescue of Acentric Chromosome Fragments.

Authors:
Martin Poot

Mol Syndromol 2017 Nov 11;8(6):279-281. Epub 2017 Oct 11.

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http://dx.doi.org/10.1159/000481332DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5701270PMC
November 2017

Adding Insult to Injury, Complexity to Intricacy.

Authors:
Martin Poot

Mol Syndromol 2017 Aug 9;8(5):225-226. Epub 2017 Jun 9.

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http://dx.doi.org/10.1159/000477230DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5582520PMC
August 2017

The Age of the Father.

Authors:
Martin Poot

Mol Syndromol 2017 Jun 20;8(4):169-171. Epub 2017 Apr 20.

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http://dx.doi.org/10.1159/000471776DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5498968PMC
June 2017

Intragenic Deletions: A Bridge Too Far?

Authors:
Martin Poot

Mol Syndromol 2017 May 10;8(3):118-130. Epub 2017 Feb 10.

Department of Human Genetics, University of Würzburg, Würzburg, Germany.

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http://dx.doi.org/10.1159/000456021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5448439PMC
May 2017

Retrotransposing Gremlins May Disrupt Our Brain's Genomes.

Authors:
Martin Poot

Mol Syndromol 2017 Mar 10;8(2):55-57. Epub 2016 Dec 10.

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http://dx.doi.org/10.1159/000453247DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5465792PMC
March 2017

Recombine and Associate to Prevent Genomic Instability and Premature Aging.

Authors:
Martin Poot

Mol Syndromol 2017 Jan 17;8(1):1-3. Epub 2016 Nov 17.

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http://dx.doi.org/10.1159/000452784DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5260536PMC
January 2017

Discovering Patterns of Structural Variation by Mining Molecular Fossils.

Authors:
Martin Poot

Mol Syndromol 2016 Nov 21;7(6):299-301. Epub 2016 Oct 21.

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http://dx.doi.org/10.1159/000450807DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5131329PMC
November 2016

When Recessive Genes Mutate to Dominant Gene Action.

Authors:
Martin Poot

Mol Syndromol 2016 Oct 14;7(5):249-250. Epub 2016 Sep 14.

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http://dx.doi.org/10.1159/000449116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5109988PMC
October 2016

Disconnecting CNTNAP2.

Authors:
Martin Poot

Mol Syndromol 2016 Jul 17;7(3):99-100. Epub 2016 Jun 17.

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http://dx.doi.org/10.1159/000447002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4988252PMC
July 2016

The Growing Complexity of the Monosomy 1p36 Syndrome.

Authors:
Martin Poot

Mol Syndromol 2016 May 31;7(2):49-50. Epub 2016 Mar 31.

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http://dx.doi.org/10.1159/000445138DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4906433PMC
May 2016

A Loss or a Gain, Is It Not All the Same?

Authors:
Martin Poot

Mol Syndromol 2016 Apr 5;7(1):1-2. Epub 2016 Feb 5.

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http://dx.doi.org/10.1159/000443814DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4862398PMC
April 2016

Chromothripsis after Stumbling through DNA Replication.

Authors:
Martin Poot

Mol Syndromol 2016 Feb 1;6(5):207-9. Epub 2015 Oct 1.

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http://dx.doi.org/10.1159/000441081DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4772614PMC
February 2016

From Telomere Crisis via Dicentric Chromosomes to Kataegis and Chromothripsis.

Authors:
Martin Poot

Mol Syndromol 2016 Feb 29;6(6):259-60. Epub 2016 Jan 29.

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http://dx.doi.org/10.1159/000443805DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4802999PMC
February 2016

To NIPT or Not to NIPT.

Authors:
Martin Poot

Mol Syndromol 2015 Oct 12;6(4):153-5. Epub 2015 Sep 12.

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http://dx.doi.org/10.1159/000439237DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4662276PMC
October 2015

Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome Rearrangements.

Mol Syndromol 2015 Sep 15;6(3):110-34. Epub 2015 Aug 15.

Department of Human Genetics, University of Würzburg, Würzburg, Germany.

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http://dx.doi.org/10.1159/000438812DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4698629PMC
September 2015

Double, Double Toil and Trouble.

Authors:
Martin Poot

Mol Syndromol 2015 Sep 21;6(3):106-7. Epub 2015 Jul 21.

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http://dx.doi.org/10.1159/000437009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4698624PMC
September 2015

Connecting the CNTNAP2 Networks with Neurodevelopmental Disorders.

Authors:
Martin Poot

Mol Syndromol 2015 Feb 3;6(1):7-22. Epub 2015 Feb 3.

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

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http://dx.doi.org/10.1159/000371594DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4369114PMC
February 2015

All humans, great or small, short or tall.

Authors:
Martin Poot

Mol Syndromol 2014 Dec;5(6):257-8

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http://dx.doi.org/10.1159/000368860DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4281572PMC
December 2014

A candidate gene association study further corroborates involvement of contactin genes in autism.

Authors:
Martin Poot

Mol Syndromol 2014 Aug 17;5(5):229-35. Epub 2014 May 17.

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

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http://dx.doi.org/10.1159/000362891DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4188154PMC
August 2014

Variable behavioural phenotypes of patients with monosomies of 15q26 and a review of 16 cases.

Eur J Med Genet 2013 Jul 16;56(7):346-50. Epub 2013 Apr 16.

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

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http://dx.doi.org/10.1016/j.ejmg.2013.04.001DOI Listing
July 2013

Antisense may make sense of 1q44 deletions, seizures, and HNRNPU.

Am J Med Genet A 2013 Apr 12;161A(4):910-2. Epub 2013 Mar 12.

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http://dx.doi.org/10.1002/ajmg.a.35770DOI Listing
April 2013

Late breaking chromosomes.

Authors:
Martin Poot

Mol Syndromol 2013 Jan;3(6):245-6

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http://dx.doi.org/10.1159/000343747DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3569100PMC
January 2013

Copy number variations in patients with electrical status epilepticus in sleep.

J Child Neurol 2012 Feb 27;27(2):178-82. Epub 2011 Sep 27.

Department of Medical Genetics, University Medical Center Utrecht, the Netherlands.

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http://dx.doi.org/10.1177/0883073811416006DOI Listing
February 2012

A girl with an atypical form of ataxia telangiectasia and an additional de novo 3.14 Mb microduplication in region 19q12.

Eur J Med Genet 2012 Jan 27;55(1):49-55. Epub 2011 Aug 27.

Institut für Humangenetik, Universitätsmedizin der Johannes Gutenberg-Universität Mainz, Mainz, Germany.

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http://dx.doi.org/10.1016/j.ejmg.2011.08.001DOI Listing
January 2012

Chromosomal abnormalities resembling Joubert syndrome: two cases illustrating the diagnostic pitfalls.

Clin Dysmorphol 2011 Jul;20(3):136-42

Department of Medical Genetics, University Medical Center Utrecht, Lundlaan 6, Utrecht, The Netherlands.

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http://dx.doi.org/10.1097/MCD.0b013e3283472507DOI Listing
July 2011

Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline.

Hum Mol Genet 2011 May 24;20(10):1916-24. Epub 2011 Feb 24.

Department of Medical Genetics, University Medical Center Utrecht, Universiteitsweg 100, 3584 CG Utrecht, The Netherlands.

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http://dx.doi.org/10.1093/hmg/ddr073DOI Listing
May 2011

Identifying human disease genes through cross-species gene mapping of evolutionary conserved processes.

PLoS One 2011 May 4;6(5):e18612. Epub 2011 May 4.

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

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0018612PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3087714PMC
May 2011

Telomere healing following DNA polymerase arrest-induced breakages is likely the main mechanism generating chromosome 4p terminal deletions.

Hum Mutat 2010 Dec 16;31(12):1343-51. Epub 2010 Nov 16.

Centre for Human Genetics, University Hospital, Catholic University of Leuven, Belgium.

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http://dx.doi.org/10.1002/humu.21368DOI Listing
December 2010

A three-step workflow procedure for the interpretation of array-based comparative genome hybridization results in patients with idiopathic mental retardation and congenital anomalies.

Genet Med 2010 Aug;12(8):478-85

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

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http://dx.doi.org/10.1097/GIM.0b013e3181e3914aDOI Listing
August 2010

Disruption of CNTNAP2 and additional structural genome changes in a boy with speech delay and autism spectrum disorder.

Neurogenetics 2010 Feb 7;11(1):81-9. Epub 2009 Jul 7.

Department of Medical Genetics, University Medical Centre Utrecht, Mail stop: KC.04.084.2, P. O. Box 85090, 3508, Utrecht, The Netherlands.

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http://dx.doi.org/10.1007/s10048-009-0205-1DOI Listing
February 2010

Recurrent copy number changes in mentally retarded children harbour genes involved in cellular localization and the glutamate receptor complex.

Eur J Hum Genet 2010 Jan;18(1):39-46

Department of Medical Genetics, University Medical Center Utrecht, PO Box 85090, Mail stop: KC.04.084.2, Utrecht, 3508 AB, The Netherlands.

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http://www.nature.com/articles/ejhg2009120
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http://dx.doi.org/10.1038/ejhg.2009.120DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987154PMC
January 2010

Array analysis and karyotyping: workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands.

Eur J Med Genet 2009 Jul-Aug;52(4):161-9. Epub 2009 Apr 9.

Department of Biomedical Genetics, University Medical Centre Utrecht, P.O. Box 85090, 3508 AB Utrecht, The Netherlands.

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http://dx.doi.org/10.1016/j.ejmg.2009.03.015DOI Listing
November 2009

A duplication including GATA4 does not co-segregate with congenital heart defects.

Am J Med Genet A 2009 May;149A(5):1062-6

Department of Cardiology, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.32769DOI Listing
May 2009

Three de novo losses and one insertion within a pericentric inversion of chromosome 6 in a patient with complete absence of expressive speech and reduced pain perception.

Eur J Med Genet 2009 Jan-Feb;52(1):27-30. Epub 2008 Nov 19.

Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, Netherlands.

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http://dx.doi.org/10.1016/j.ejmg.2008.11.002DOI Listing
April 2009

AKT3 as a candidate gene for corpus callosum anomalies in patients with 1q44 deletions.

Eur J Med Genet 2008 Nov-Dec;51(6):689-90. Epub 2008 Jul 16.

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http://dx.doi.org/10.1016/j.ejmg.2008.07.001DOI Listing
March 2009

A novel 6.14 Mb duplication of chromosome 8p21 in a patient with autism and self mutilation.

J Autism Dev Disord 2009 Feb 12;39(2):322-9. Epub 2008 Aug 12.

Department of Child and Adolescent Psychiatry, Rudolf Magnus Institute of Neuroscience, UMC Utrecht, HP B01.201, GA, Utrecht, The Netherlands.

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http://dx.doi.org/10.1007/s10803-008-0627-xDOI Listing
February 2009

Wolf-Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions.

Eur J Hum Genet 2009 Jan 1;17(1):129-32. Epub 2008 Oct 1.

Department of Medical Genetics, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://www.nature.com/articles/ejhg2008168
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http://dx.doi.org/10.1038/ejhg.2008.168DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2985965PMC
January 2009

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.

N Engl J Med 2008 Oct 10;359(16):1685-99. Epub 2008 Sep 10.

University of Washington School of Medicine, Seattle 98195, USA.

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http://dx.doi.org/10.1056/NEJMoa0805384DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2703742PMC
October 2008

Proportional growth failure and oculocutaneous albinism in a girl with a 6.87 Mb deletion of region 15q26.2-->qter.

Eur J Med Genet 2007 Nov-Dec;50(6):432-40. Epub 2007 Sep 9.

Department of Medical Genetics, University Medical Center Utrecht, Mail stop: KC.04.084.2, P.O. Box 85090, 3508 AB Utrecht, The Netherlands.

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http://dx.doi.org/10.1016/j.ejmg.2007.08.003DOI Listing
March 2008

Cytogenetic aberrations in neuropathy associated with IgM monoclonal gammopathy.

J Neurol Sci 2007 Sep 1;260(1-2):124-31. Epub 2007 Jun 1.

Department of Neurology, the Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, The Netherlands.

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http://linkinghub.elsevier.com/retrieve/pii/S0022510X0700288
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http://dx.doi.org/10.1016/j.jns.2007.04.022DOI Listing
September 2007

Functional role of the Werner syndrome RecQ helicase in human fibroblasts.

Aging Cell 2007 Feb;6(1):53-61

Department of Pathology, University of Washington, Seattle, WA 98195-7705, USA.

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http://dx.doi.org/10.1111/j.1474-9726.2006.00260.xDOI Listing
February 2007

Insights from genomic microarrays into structural chromosome rearrangements.

Am J Med Genet A 2005 Jan;132A(1):36-40

Laboratory for Cytochemistry and Cytometry, Department of Molecular Cell Biology, Leiden University Medical Center (LUMC), Leiden, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.30378DOI Listing
January 2005

Nucleic acid probes.

Authors:
Martin Poot

Curr Protoc Cytom 2004 Nov;Chapter 4:Unit 4.3

University of Washington Seattle, Seattle, Washington, USA.

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http://dx.doi.org/10.1002/0471142956.cy0403s26DOI Listing
November 2004

Reduced joining of DNA ends correlates with chromosomal instability in three melanoma cell lines.

Tumour Biol 2003 Mar-Apr;24(2):100-8

Department of Dermatology, Boston University School of Medicine, Boston, MA 02118, USA.

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http://dx.doi.org/10.1159/000071083DOI Listing
August 2003

Zoledronic acid exhibits inhibitory effects on osteoblastic and osteolytic metastases of prostate cancer.

Clin Cancer Res 2003 Jan;9(1):295-306

Department of Urology, University of Washington, Seattle, Washington 98195, USA.

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January 2003

Distinct patterns of mitochondrial changes precede induction of apoptosis by all-trans-retinoic acid and N-(4-hydroxyphenyl)retinamide in MCF7 breast cancer cells.

Exp Cell Res 2002 Sep;279(1):128-40

Department of Pathology, University of Washington, Seatle, Washington 98195-7705, USA.

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http://dx.doi.org/10.1006/excr.2002.5582DOI Listing
September 2002

Werner syndrome diploid fibroblasts are sensitive to 4-nitroquinoline-N-oxide and 8-methoxypsoralen: implications for the disease phenotype.

FASEB J 2002 May 12;16(7):757-8. Epub 2002 Mar 12.

Department of Pathology, University of Washington, Seattle, Washington 98195-7705, USA.

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http://dx.doi.org/10.1096/fj.01-0906fjeDOI Listing
May 2002

Insulin-like growth factor binding protein-related protein 1 inhibits proliferation of MCF-7 breast cancer cells via a senescence-like mechanism.

Cell Growth Differ 2002 May;13(5):205-13

Department of Pathology, University of Washington School of Medicine, Seattle 98195, USA.

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May 2002

A novel flow cytometric technique for drug cytotoxicity gives results comparable to colony-forming assays.

Cytometry 2002 May;48(1):1-5

Department of Pathology, University of Washington, PO Box 357705, Seattle, WA 98195-7705, USA.

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http://dx.doi.org/10.1002/cyto.10101DOI Listing
May 2002