Publications by authors named "Martijn H Breuning"

100Publications

[Maturity-onset diabetes of the young].

Ned Tijdschr Geneeskd 2015 ;159:A9247

Leids Universitair Medisch Centrum, Leiden.

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August 2016

LRP5 variants may contribute to ADPKD.

Eur J Hum Genet 2016 Feb 29;24(2):237-42. Epub 2015 Apr 29.

Department of Gastroenterology and Hepatology, Institute for Genetic & Metabolic Disease (IGMD), Radboud Institute for Molecular LifeSciences (RIMLS), Radboud university medical center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2015.86DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4717208PMC
February 2016

Response to Dalal et al.

Genet Med 2015 Jan;17(1):89-90

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1038/gim.2014.150DOI Listing
January 2015

A decade of molecular genetic testing for MODY: a retrospective study of utilization in The Netherlands.

Eur J Hum Genet 2015 Jan 16;23(1):29-33. Epub 2014 Apr 16.

Department of Clinical Genetics, Section of Community Genetics, EMGO Institute for Health and Care Research, VU University Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2014.59DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4266743PMC
January 2015

Impact of prenatal technologies on the sex ratio in India: an overview.

Genet Med 2014 Jun 31;16(6):425-32. Epub 2013 Oct 31.

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://www.nature.com/articles/gim2013172
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http://dx.doi.org/10.1038/gim.2013.172DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4052431PMC
June 2014

GPSM2 and Chudley-McCullough syndrome: a Dutch founder variant brought to North America.

Am J Med Genet A 2013 May 13;161A(5):973-6. Epub 2013 Mar 13.

Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://doi.wiley.com/10.1002/ajmg.a.35808
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http://dx.doi.org/10.1002/ajmg.a.35808DOI Listing
May 2013

Cyst expansion and regression in a mouse model of polycystic kidney disease.

Kidney Int 2013 Jun 6;83(6):1099-108. Epub 2013 Mar 6.

Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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https://linkinghub.elsevier.com/retrieve/pii/S00852538155586
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http://dx.doi.org/10.1038/ki.2013.13DOI Listing
June 2013

Exome sequencing identifies a branch point variant in Aarskog-Scott syndrome.

Hum Mutat 2013 Mar 20;34(3):430-4. Epub 2012 Dec 20.

Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.

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http://dx.doi.org/10.1002/humu.22252DOI Listing
March 2013

Case 26-2011: A boy with a complex kidney cyst.

N Engl J Med 2012 01;366(1):94; author reply 94-5

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http://dx.doi.org/10.1056/NEJMc1111134DOI Listing
January 2012

Three new cases with a mosaicism involving a normal cell line and a cryptic unbalanced autosomal reciprocal translocation.

Eur J Med Genet 2011 Jul-Aug;54(4):e409-12. Epub 2011 May 23.

Center for Human and Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands.

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http://dx.doi.org/10.1016/j.ejmg.2011.05.002DOI Listing
October 2011

Altered Hippo signalling in polycystic kidney disease.

J Pathol 2011 May 7;224(1):133-42. Epub 2011 Mar 7.

Department of Human Genetics, Leiden University Medical Center, 2300 RC Leiden, The Netherlands.

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http://dx.doi.org/10.1002/path.2856DOI Listing
May 2011

Curcumin inhibits cystogenesis by simultaneous interference of multiple signaling pathways: in vivo evidence from a Pkd1-deletion model.

Am J Physiol Renal Physiol 2011 May 23;300(5):F1193-202. Epub 2011 Feb 23.

Department of Human Genetics, Leiden Univ. Medical Center, The Netherlands.

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http://dx.doi.org/10.1152/ajprenal.00419.2010DOI Listing
May 2011

Experiences with array-based sequence capture; toward clinical applications.

Eur J Hum Genet 2011 Jan 24;19(1):50-5. Epub 2010 Nov 24.

Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://www.nature.com/articles/ejhg2010145
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http://dx.doi.org/10.1038/ejhg.2010.145DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3039511PMC
January 2011

The jumping SHOX gene--crossover in the pseudoautosomal region resulting in unusual inheritance of Leri-Weill dyschondrosteosis.

J Clin Endocrinol Metab 2011 Feb 10;96(2):E356-9. Epub 2010 Nov 10.

Center for Human and Clinical Genetics-Department of Clinical Genetics, Leiden University Medical Center, P.O. Box 9600, 2300 RC Leiden, The Netherlands.

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http://dx.doi.org/10.1210/jc.2010-1505DOI Listing
February 2011

The clinical spectrum of complete FBN1 allele deletions.

Eur J Hum Genet 2011 Mar 10;19(3):247-52. Epub 2010 Nov 10.

Department of Clinical Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2010.174DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3061999PMC
March 2011

Pkd1-inactivation in vascular smooth muscle cells and adaptation to hypertension.

Lab Invest 2011 Jan 20;91(1):24-32. Epub 2010 Sep 20.

Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1038/labinvest.2010.159DOI Listing
January 2011

Additional cryptic CNVs in mentally retarded patients with apparently balanced karyotypes.

Eur J Med Genet 2010 Sep-Oct;53(5):227-33. Epub 2010 Jun 11.

Center for Human and Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, the Netherlands.

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http://dx.doi.org/10.1016/j.ejmg.2010.06.003DOI Listing
January 2011

Genome-wide SNP array analysis in patients with features of sotos syndrome.

Horm Res Paediatr 2010 9;73(4):265-74. Epub 2010 Mar 9.

Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands. r.visser @ lumc.nl

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http://dx.doi.org/10.1159/000284391DOI Listing
June 2010

[Autosomal dominant polycystic kidney disease: new insights and possible drugs].

Ned Tijdschr Geneeskd 2009 May;153(20):968-74

Universitair Medisch Centrum Groningen, Groningen.

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May 2009

Rapid and cost effective detection of small mutations in the DMD gene by high resolution melting curve analysis.

Neuromuscul Disord 2009 Jun 5;19(6):383-90. Epub 2009 May 5.

Center for Human and Clinical Genetics, LUMC, Einthovenweg 20, Leiden, The Netherlands.

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http://dx.doi.org/10.1016/j.nmd.2009.03.004DOI Listing
June 2009

Overgrowth syndromes:from classical to new.

Pediatr Endocrinol Rev 2009 Mar;6(3):375-94

Department of Pediatrics, Leiden University Medical Center, Netherlands.

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March 2009

[Genetic associate studies in multifactorial genetic diseases].

Ned Tijdschr Geneeskd 2009 Mar;153(10):428-9

Leids Universitair Medisch Centrum, afd. Klinische Genetica, Leiden.

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March 2009

RNF135 mutations are not present in patients with Sotos syndrome-like features.

Am J Med Genet A 2009 Feb;149A(4):806-8

Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands.

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http://doi.wiley.com/10.1002/ajmg.a.32694
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http://dx.doi.org/10.1002/ajmg.a.32694DOI Listing
February 2009

Identification of copy number variants associated with BPES-like phenotypes.

Hum Genet 2008 Dec 25;124(5):489-98. Epub 2008 Oct 25.

Center for Human and Clinical Genetics, Leiden University Medical Center, Postzone S-6-P, Einthovenweg 20, 2333 CZ, Leiden, The Netherlands.

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http://dx.doi.org/10.1007/s00439-008-0574-9DOI Listing
December 2008

Genetic testing in familial melanoma: uptake and implications.

Psychooncology 2008 Aug;17(8):790-6

Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1002/pon.1377DOI Listing
August 2008

A 400kb duplication, 2.4Mb triplication and 130kb duplication of 9q34.3 in a patient with severe mental retardation.

Eur J Med Genet 2008 Sep-Oct;51(5):479-87. Epub 2008 May 3.

Center for Human and Clinical Genetics, Leiden University Medical Center (LUMC), Einthovenweg 20, Postzone S-6-P, 2333 CZ Leiden, The Netherlands.

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http://dx.doi.org/10.1016/j.ejmg.2008.04.003DOI Listing
November 2008

Quantification of Cre-mediated recombination by a novel strategy reveals a stable extra-chromosomal deletion-circle in mice.

BMC Biotechnol 2008 Feb 25;8:18. Epub 2008 Feb 25.

Dept of Human Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, 2300 RC Leiden, The Netherlands.

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http://dx.doi.org/10.1186/1472-6750-8-18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2277394PMC
February 2008

A novel (Leu183Pro-)mutation in the HFE-gene co-inherited with the Cys282Tyr mutation in two unrelated Dutch hemochromatosis patients.

Blood Cells Mol Dis 2008 May-Jun;40(3):334-8. Epub 2007 Nov 26.

Department of Clinical Chemistry, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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https://linkinghub.elsevier.com/retrieve/pii/S10799796070022
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http://dx.doi.org/10.1016/j.bcmd.2007.10.003DOI Listing
August 2008

Kidney-specific inactivation of the Pkd1 gene induces rapid cyst formation in developing kidneys and a slow onset of disease in adult mice.

Hum Mol Genet 2007 Dec 11;16(24):3188-96. Epub 2007 Oct 11.

Department of Human Genetics, Leiden University Medical Center, Leiden 2300RC, The Netherlands.

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http://dx.doi.org/10.1093/hmg/ddm299DOI Listing
December 2007

Pathogenic sequence for dissecting aneurysm formation in a hypomorphic polycystic kidney disease 1 mouse model.

Arterioscler Thromb Vasc Biol 2007 Oct 26;27(10):2177-83. Epub 2007 Jul 26.

Center for Human and Clinical Genetics, Leiden University Medical Center, Postal zone: S-04-P, P.O. Box 9600, 2300 RC, Leiden, The Netherlands.

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https://www.ahajournals.org/doi/10.1161/ATVBAHA.107.149252
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http://dx.doi.org/10.1161/ATVBAHA.107.149252DOI Listing
October 2007

Genotype-phenotype correlations in 19 Dutch cases with APC gene deletions and a literature review.

Eur J Hum Genet 2007 Oct 13;15(10):1034-42. Epub 2007 Jun 13.

Department of Clinical Genetics, Center of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1038/sj.ejhg.5201871DOI Listing
October 2007

A t(4;6)(q12;p23) translocation disrupts a membrane-associated O-acetyl transferase gene (MBOAT1) in a patient with a novel brachydactyly-syndactyly syndrome.

Eur J Hum Genet 2007 Jul 18;15(7):743-51. Epub 2007 Apr 18.

Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1038/sj.ejhg.5201833DOI Listing
July 2007

Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.

Hum Genet 2007 Jun 22;121(5):591-9. Epub 2007 Mar 22.

Division of Nephrology and Hypertension, Mayo Clinic College of Medicine, 200 First Street SW, Rochester, MN 55905, USA.

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http://dx.doi.org/10.1007/s00439-007-0341-3DOI Listing
June 2007

Diagnosis of genetic abnormalities in developmentally delayed patients: a new strategy combining MLPA and array-CGH.

Am J Med Genet A 2007 Mar;143A(6):610-4

Center for Human and Clinical Genetics, Leiden University Medical Center, RC Leiden, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.31593DOI Listing
March 2007

Lacunar infarcts are the main correlate with cognitive dysfunction in CADASIL.

Stroke 2007 Mar 1;38(3):923-8. Epub 2007 Feb 1.

Department of Radiology, Leiden University Medical Center, C2S, Albinusdreef 2, 2333 ZA Leiden, The Netherlands.

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http://dx.doi.org/10.1161/01.STR.0000257968.24015.bfDOI Listing
March 2007

Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase.

Am J Hum Genet 2006 Sep 19;79(3):562-6. Epub 2006 Jul 19.

Center for Human and Clinical Genetics, Department of Clinical Genetics, K5-R, Leiden University Medical Center, 2300 RC Leiden, The Netherlands.

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http://linkinghub.elsevier.com/retrieve/pii/S000292970762756
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http://dx.doi.org/10.1086/507567DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1559553PMC
September 2006

Diagnostic approach and management of Lynch syndrome (hereditary nonpolyposis colorectal carcinoma): a guide for clinicians.

CA Cancer J Clin 2006 Jul-Aug;56(4):213-25

Center of Human and Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.

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http://dx.doi.org/10.3322/canjclin.56.4.213DOI Listing
September 2006

An XX male with the sex-determining region Y gene inserted in the long arm of chromosome 16.

Fertil Steril 2006 Aug 12;86(2):463.e1-5. Epub 2006 Jun 12.

Center for Human Clinical Genetics, Leiden University Medical Center, Albinusdreef 2, 2333 AL Leiden, The Netherlands.

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http://dx.doi.org/10.1016/j.fertnstert.2005.12.062DOI Listing
August 2006

Transgenic mice expressing tamoxifen-inducible Cre for somatic gene modification in renal epithelial cells.

Genesis 2006 May;44(5):225-32

Leiden University Medical Center, Center for Human and Clinical Genetics, Leiden, The Netherlands.

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http://doi.wiley.com/10.1002/dvg.20207
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http://dx.doi.org/10.1002/dvg.20207DOI Listing
May 2006

Analysis of missense variants in the PKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD).

Hum Genet 2005 Nov 15;118(2):185-206. Epub 2005 Nov 15.

Center for Human and Clinical Genetics, Sylvius Laboratory, Leiden University Medical Center, Wassenaarseweg 72, 2333, AL, Leiden, The Netherlands.

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http://dx.doi.org/10.1007/s00439-005-0027-7DOI Listing
November 2005

Sarcoglycanopathies and the risk of undetected deletion alleles in diagnosis.

Hum Mutat 2005 Jul;26(1):59

Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://doi.wiley.com/10.1002/humu.9347
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http://dx.doi.org/10.1002/humu.9347DOI Listing
July 2005

Common regulatory elements in the polycystic kidney disease 1 and 2 promoter regions.

Eur J Hum Genet 2005 May;13(5):649-59

Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1038/sj.ejhg.5201392DOI Listing
May 2005

Genetic Testing: from chromosomes to DNA, a revolution in prenatal diagnosis.

Eur J Hum Genet 2005 May;13(5):517-8

LUMC, Clinical Genetics, Leiden, The Netherlands.

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http://dx.doi.org/10.1038/sj.ejhg.5201327DOI Listing
May 2005

Detecting copy number changes in genomic DNA: MAPH and MLPA.

Methods Cell Biol 2004 ;75:751-68

Center for Human and Clinical Genetics, Leiden University Medical Center, 2333 AL Leiden, Nederland.

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http://dx.doi.org/10.1016/s0091-679x(04)75032-3DOI Listing
March 2005

Comparison between siblings and twins supports a role for modifier genes in ADPKD.

Kidney Int 2004 Dec;66(6):2132-6

Division of Nephrology, Université Catholique de Louvain Medical School, Brussels, Belgium.

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http://dx.doi.org/10.1111/j.1523-1755.2004.66003.xDOI Listing
December 2004

Three new families with arterial tortuosity syndrome.

Am J Med Genet A 2004 Dec;131(2):134-43

Department of Clinical Genetics, Erasmus University Medical Centre, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.30272DOI Listing
December 2004

Lowering of Pkd1 expression is sufficient to cause polycystic kidney disease.

Hum Mol Genet 2004 Dec 20;13(24):3069-77. Epub 2004 Oct 20.

Center for Human and Clinical Genetics, Leiden University Medical Center, 2333 AL Leiden, The Netherlands.

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http://dx.doi.org/10.1093/hmg/ddh336DOI Listing
December 2004

Feeling at risk: how women interpret their familial breast cancer risk.

Am J Med Genet A 2004 Nov;131(1):42-9

Department of Medical Decision-Making, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.30322DOI Listing
November 2004

Abnormal hepatocystin caused by truncating PRKCSH mutations leads to autosomal dominant polycystic liver disease.

Hepatology 2004 Apr;39(4):924-31

Department of Medicine, Division of Gastroenterology and Hepatology, University Medical Center St. Radboud, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/hep.20141DOI Listing
April 2004

Altered distribution and co-localization of polycystin-2 with polycystin-1 in MDCK cells after wounding stress.

Exp Cell Res 2004 Jan;292(1):219-30

Department of Human Genetics, Leiden University Medical Center, 2333 AL Leiden, The Netherlands.

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http://dx.doi.org/10.1016/j.yexcr.2003.08.019DOI Listing
January 2004