Robert Hofstra

Robert Hofstra

UNVERIFIED PROFILE

Are you Robert Hofstra?   Register this Author

Register author
Robert Hofstra

Robert Hofstra

Publications by authors named "Robert Hofstra"

Are you Robert Hofstra?   Register this Author

100Publications

3070Reads

15Profile Views

Germline genome editing: public dialogue is urgent but not self-evident.

Eur J Hum Genet 2019 Jul 22. Epub 2019 Jul 22.

Erasmus Medical Center, Rotterdam, the Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41431-019-0474-6DOI Listing
July 2019

Neuronal Development and Onset of Electrical Activity in the Human Enteric Nervous System.

Gastroenterology 2019 Apr 2;156(5):1483-1495.e6. Epub 2019 Jan 2.

Stem Cells and Regenerative Medicine, UCL Great Ormond Street Institute of Child Health, London, UK; Prince Abdullah Ben Khalid Celiac Research Chair, College of Medicine, King Saud University, Riyadh, KSA; Department of Gastroenterology, Great Ormond Street Hospital, London, UK. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00165085183543
Publisher Site
http://dx.doi.org/10.1053/j.gastro.2018.12.020DOI Listing
April 2019

Do RET somatic mutations play a role in Hirschsprung disease?

Genet Med 2018 11;20(11):1477-1478

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

View Article

Download full-text PDF

Source
http://www.nature.com/doifinder/10.1038/gim.2018.6
Publisher Site
http://dx.doi.org/10.1038/gim.2018.6DOI Listing
November 2018

Routine Molecular Analysis for Lynch Syndrome Among Adenomas or Colorectal Cancer Within a National Screening Program.

Gastroenterology 2018 11 29;155(5):1410-1415. Epub 2018 Jul 29.

Department of Gastroenterology and Hepatology, Erasmus MC University Medical Center Rotterdam, the Netherlands. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00165085183481
Publisher Site
http://dx.doi.org/10.1053/j.gastro.2018.07.029DOI Listing
November 2018

A combined literature and in silico analysis enlightens the role of the NDRG family in the gut.

Biochim Biophys Acta Gen Subj 2018 10 7;1862(10):2140-2151. Epub 2018 Jul 7.

Department of Pathology, GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, The Netherlands; Department of Clinical Genetics, University of Rotterdam, EMC, Rotterdam, The Netherlands. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbagen.2018.07.004DOI Listing
October 2018

Identification of Variants in RET and IHH Pathway Members in a Large Family With History of Hirschsprung Disease.

Gastroenterology 2018 07 28;155(1):118-129.e6. Epub 2018 Mar 28.

Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands; Neural Development and Gastroenterology Units, UCL Institute of Child Health, London, UK. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1053/j.gastro.2018.03.034DOI Listing
July 2018

A "late-but-fitter revertant cell" explains the high frequency of revertant mosaicism in epidermolysis bullosa.

PLoS One 2018 22;13(2):e0192994. Epub 2018 Feb 22.

University of Groningen, University Medical Center Groningen, Department of Dermatology, Groningen, the Netherlands.

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0192994PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5823395PMC
April 2018

Small-bowel Surveillance in Patients With Peutz-Jeghers Syndrome: Comparing Magnetic Resonance Enteroclysis and Double Balloon Enteroscopy.

J Clin Gastroenterol 2017 Apr;51(4):e27-e33

Departments of *Gastroenterology and Hepatology †Clinical Genetics ‡Radiology, Erasmus MC, University Medical Center Rotterdam, Rotterdam Departments of §Radiology ∥Gastroenterology and Hepatology, Academic Medical Center, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCG.0000000000000592DOI Listing
April 2017

Two new mutations of the CLMP gene identified in a newborn presenting congenital short-bowel syndrome.

Clin Res Hepatol Gastroenterol 2016 Dec 4;40(6):e65-e67. Epub 2016 Oct 4.

Neonatal Intensive Care Unit, Department of Pediatric Medicine, University Hospital of Saint-Étienne, 42055 Saint-Étienne, France; EA SNA-EPIS Research Laboratory 4607, Jean-Monnet University, 42055 Saint-Étienne, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.clinre.2015.12.018DOI Listing
December 2016

Genetics of enteric neuropathies.

Dev Biol 2016 09 15;417(2):198-208. Epub 2016 Jul 15.

Department of Clinical Genetics, Erasmus University Medical Centre - Sophia Children's Hospital, Rotterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ydbio.2016.07.008DOI Listing
September 2016

The enteric nervous system: From embryology to therapy.

Dev Biol 2016 09;417(2):127-8

Stem Cells and Regenerative Medicine, Birth Defects Research Centre, UCL Great Ormond Street Institute of Child Health, London, UK; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ydbio.2016.08.013DOI Listing
September 2016

Regulators of gene expression in Enteric Neural Crest Cells are putative Hirschsprung disease genes.

Dev Biol 2016 08 4;416(1):255-265. Epub 2016 Jun 4.

Department of Neuroscience, section Medical Physiology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ydbio.2016.06.004DOI Listing
August 2016

Oligonucleotide-directed mutagenesis screen to identify pathogenic Lynch syndrome-associated MSH2 DNA mismatch repair gene variants.

Proc Natl Acad Sci U S A 2016 Apr 7;113(15):4128-33. Epub 2016 Mar 7.

Division of Biological Stress Response, The Netherlands Cancer Institute, 1066 CX Amsterdam, The Netherlands;

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1073/pnas.1520813113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4839441PMC
April 2016

Review: Clinical aspects of hereditary DNA Mismatch repair gene mutations.

DNA Repair (Amst) 2016 Feb 11;38:155-162. Epub 2015 Dec 11.

Department of Clinical Genetics, Erasmus Medical Center Rotterdam, P.O. Box 2040, 3000CA Rotterdam, The Netherlands. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.dnarep.2015.11.018DOI Listing
February 2016

Hirschsprung Disease and Activation of Hedgehog Signaling via GLI1-3 Mutations.

Gastroenterology 2015 Dec 23;149(7):1672-5. Epub 2015 Oct 23.

Department of Clinical Genetics, University of Rotterdam, Erasmus Medical Center, Rotterdam, The Netherlands. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1053/j.gastro.2015.10.023DOI Listing
December 2015

Congenital Short Bowel Syndrome: from clinical and genetic diagnosis to the molecular mechanisms involved in intestinal elongation.

Biochim Biophys Acta 2015 Nov 15;1852(11):2352-61. Epub 2015 Aug 15.

Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbadis.2015.08.007DOI Listing
November 2015

Endocrine tumours: progressive metastatic medullary thyroid carcinoma: first- and second-line strategies.

Eur J Endocrinol 2015 Jun 27;172(6):R241-51. Epub 2015 Jan 27.

Department of EndocrinologyUniversity Medical Centre Groningen, University of Groningen, PO Box 30.001, 9700 RB Groningen, The NetherlandsDepartment of GeneticsErasmus Medical Centre, Rotterdam, The NetherlandsDepartment of Surgical OncologyUniversity Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1530/EJE-14-0726DOI Listing
June 2015

High frequency of RPL22 mutations in microsatellite-unstable colorectal and endometrial tumors.

Hum Mutat 2014 Dec;35(12):1442-5

Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, 9700, RB, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.22686DOI Listing
December 2014

New target genes in endometrial tumors show a role for the estrogen-receptor pathway in microsatellite-unstable cancers.

Hum Mutat 2014 Dec;35(12):1514-23

Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands; Department of Pathomorphology, Medical College, Jagiellonian University, Krakow, Poland; Institute of Molecular Pathology and Immunology and Medical Faculty, University of Porto, Porto, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.22700DOI Listing
December 2014

Charles Buys (1942-2014).

Eur J Hum Genet 2014 Dec;22(12):1343-4

Department of Clinical Genetics, University of Rotterdam, Erasmus MC, Rotterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2014.207DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4231401PMC
December 2014

Re: Role of the oxidative DNA damage repair gene OGG1 in colorectal tumorigenesis.

J Natl Cancer Inst 2014 Apr 26;106(5). Epub 2014 Apr 26.

Affiliations of authors: Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, Surrey, UK (BK, RSH); Department of Medicine I, University Hospital Dresden, Dresden, Germany (SB); Department of Gastroenterology, Hospital Clínic, Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas, Institut d'Investigacions Biomèdiques August Pi i Sunyer, University of Barcelona, Barcelona, Catalonia, Spain (SCB); Colon Cancer Genetics Group, Institute of Genetics and Molecular Medicine, University of Edinburgh and Medical Research Council (MRC) Human Genetics Unit, Edinburgh, UK (MGD, SMF); German Cancer Research Center, Heidelberg, Germany (AF, KH); Department of Internal Medicine I, Hospital Schleswig-Holstein, Kiel, Germany (JH); Leeds Cancer Research UK Centre, Section of Epidemiology and Biostatistics, Leeds Institute of Cancer Studies and Pathology, St James's University Hospital, Leeds, UK (EN, DTB); Molecular and Population Genetics Laboratory, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK (CP, IT); Department of Genetics, Portugese Oncology Institute, Porto, Portugal (MP, MRT); Galician Public Foundation of Genomic Medicine, Centro de Investigación Biomédica en Rad de Enfermedades Rares, Genomics Medicine Group, Hospital Clínico, Santiago de Compostela, University of Santiago de Compostela, Galicia, Spain (CRP); Department of General and Thoraci Surgery, University Hospital Schleswig-Holstein, Kiel, Germany (CS); University of Gronigen, University Medical Centre Gronigen, Department of Genetics, Gronigen, The Netherlands (HW, RMWH); Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands (RMWH); Leiden Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands (TW).

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/jnci/dju086DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4677263PMC
April 2014

Pathways systematically associated to Hirschsprung's disease.

Orphanet J Rare Dis 2013 Dec 2;8:187. Epub 2013 Dec 2.

Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville, Av, Manuel Siurot s/n, Seville, 41013, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1750-1172-8-187DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3879038PMC
December 2013

Brush border myosin Ia inactivation in gastric but not endometrial tumors.

Int J Cancer 2013 Apr 20;132(8):1790-9. Epub 2012 Oct 20.

Group of Molecular Oncology, CIBBIM-Nanomedicine, Vall d'Hebron University Hospital Research Institute, Universitat Autònoma de Barcelona, Passeig Vall d'Hebron 119-129, Barcelona, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ijc.27856DOI Listing
April 2013

Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations.

Genet Med 2013 Apr 4;15(4):310-3. Epub 2012 Oct 4.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2012.123DOI Listing
April 2013

The entire miR-200 seed family is strongly deregulated in clear cell renal cell cancer compared to the proximal tubular epithelial cells of the kidney.

Genes Chromosomes Cancer 2013 Feb 17;52(2):165-73. Epub 2012 Oct 17.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/gcc.22016DOI Listing
February 2013

The role of maternal-fetal cholesterol transport in early fetal life: current insights.

Biol Reprod 2013 Jan 31;88(1):24. Epub 2013 Jan 31.

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

View Article

Download full-text PDF

Source
http://www.biolreprod.org/content/early/2012/11/13/biolrepro
Web Search
http://www.biolreprod.org/cgi/doi/10.1095/biolreprod.112.102
Publisher Site
http://dx.doi.org/10.1095/biolreprod.112.102442DOI Listing
January 2013

Pathological assessment of mismatch repair gene variants in Lynch syndrome: past, present, and future.

Hum Mutat 2012 Dec 13;33(12):1617-25. Epub 2012 Aug 13.

Center for Healthy Aging, Department of Cellular and Molecular Medicine, University of Copenhagen, Denmark.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/humu.22168
Publisher Site
http://dx.doi.org/10.1002/humu.22168DOI Listing
December 2012

Clinical relevance of 18F-FDG PET and 18F-DOPA PET in recurrent medullary thyroid carcinoma.

J Nucl Med 2012 Dec 18;53(12):1863-71. Epub 2012 Oct 18.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2967/jnumed.112.105940DOI Listing
December 2012

RET/PTC rearrangement is prevalent in follicular Hürthle cell carcinomas.

Histopathology 2012 Nov 17;61(5):833-43. Epub 2012 Jul 17.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1365-2559.2012.04276.xDOI Listing
November 2012

The origin of fetal sterols in second-trimester amniotic fluid: endogenous synthesis or maternal-fetal transport?

Am J Obstet Gynecol 2012 Sep 11;207(3):202.e19-25. Epub 2012 Jun 11.

Eurocat Registration Northern Netherlands and Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajog.2012.06.003DOI Listing
September 2012

Mutation update on the CHD7 gene involved in CHARGE syndrome.

Hum Mutat 2012 Aug 16;33(8):1149-60. Epub 2012 Apr 16.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.22086DOI Listing
August 2012

A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome.

Hum Mutat 2012 Aug 11;33(8):1251-60. Epub 2012 May 11.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.22106DOI Listing
August 2012

A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants.

Hum Mutat 2012 Mar 29;33(3):488-94. Epub 2011 Dec 29.

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

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/humu.22000
Publisher Site
http://dx.doi.org/10.1002/humu.22000DOI Listing
March 2012

Combined adverse effects of maternal smoking and high body mass index on heart development in offspring: evidence for interaction?

Heart 2012 Mar 30;98(6):474-9. Epub 2012 Jan 30.

Eurocat Northern Netherlands, Department of Medical Genetics, University Medical Centre Groningen, PO Box 30001, 9700 RB Groningen, The Netherlands.

View Article

Download full-text PDF

Source
http://heart.bmj.com/lookup/doi/10.1136/heartjnl-2011-300822
Publisher Site
http://dx.doi.org/10.1136/heartjnl-2011-300822DOI Listing
March 2012

Natural gene therapy in dystrophic epidermolysis bullosa.

Arch Dermatol 2012 Feb 17;148(2):213-6. Epub 2011 Oct 17.

Department of Dermatology, University Medical Center Groningen, University of Groningen, the Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1001/archdermatol.2011.298DOI Listing
February 2012

Functional analyses of RET mutations in Chinese Hirschsprung disease patients.

Birth Defects Res A Clin Mol Teratol 2012 Jan 1;94(1):47-51. Epub 2011 Dec 1.

Division of Paediatric Surgery, Department of Surgery, The University of Hong Kong, Hong Kong, Special Administrative Region, China.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/bdra.22863DOI Listing
January 2012

Perspectives for tailored chemoprevention and treatment of colorectal cancer in Lynch syndrome.

Crit Rev Oncol Hematol 2011 Nov 14;80(2):264-77. Epub 2010 Dec 14.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.critrevonc.2010.11.009DOI Listing
November 2011

The effects of four different tyrosine kinase inhibitors on medullary and papillary thyroid cancer cells.

J Clin Endocrinol Metab 2011 Jun 6;96(6):E991-5. Epub 2011 Apr 6.

Department of Genetics, University Medical Center Groningen, University of Groningen, P.O. Box 30.001, 9700 RB Groningen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2010-2381DOI Listing
June 2011

The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen.

J Med Genet 2011 Mar 26;48(3):160-7. Epub 2010 Nov 26.

Department of Genetics, University Medical Center Groningen, Hanzeplein 1, PO Box 30.001, 9700 RB Groningen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jmg.2010.082230DOI Listing
March 2011

Variants in RET associated with Hirschsprung's disease affect binding of transcription factors and gene expression.

Gastroenterology 2011 Feb 25;140(2):572-582.e2. Epub 2010 Oct 25.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1053/j.gastro.2010.10.044DOI Listing
February 2011

Mutations in SCG10 are not involved in Hirschsprung disease.

PLoS One 2010 Dec 20;5(12):e15144. Epub 2010 Dec 20.

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

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0015144PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3004862PMC
December 2010

[Medullary thyroid cancer, a tumour with many appearances].

Ned Tijdschr Geneeskd 2010 ;154:A1818

Universitair Medisch Centrum Groningen, Groningen, Afd. Endocrinologie, the Netherlands.

View Article

Download full-text PDF

Source
October 2010

Screening for germline DND1 mutations in testicular cancer patients.

Fam Cancer 2010 Sep;9(3):439-42

Department of Genetics, University Medical Center Groningen, University of Groningen, PO Box 30001, 9700 RB, Groningen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10689-010-9340-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2921500PMC
September 2010

KBP interacts with SCG10, linking Goldberg-Shprintzen syndrome to microtubule dynamics and neuronal differentiation.

Hum Mol Genet 2010 Sep 9;19(18):3642-51. Epub 2010 Jul 9.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddq280DOI Listing
September 2010

Histone methyltransferase gene SETD2 is a novel tumor suppressor gene in clear cell renal cell carcinoma.

Cancer Res 2010 Jun 25;70(11):4287-91. Epub 2010 May 25.

Departments of Genetics and Pathology, University Medical Centre Groningen, University of Groningen, Groningen, the Netherlands.

View Article

Download full-text PDF

Source
http://cancerres.aacrjournals.org/lookup/doi/10.1158/0008-54
Publisher Site
http://dx.doi.org/10.1158/0008-5472.CAN-10-0120DOI Listing
June 2010

Cell-free assay breakthrough for MLH1 variants.

Hum Mutat 2010 Mar;31(3)

University Medical Center Groningen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.21217DOI Listing
March 2010

An updated and upgraded L1CAM mutation database.

Hum Mutat 2010 Jan;31(1):E1102-9

Department of Genetics, University Medical Centre Groningen, University of Groningen, P.O. Box 30001, 9700 RB Groningen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.21172DOI Listing
January 2010

Design and validation of a conformation-sensitive capillary electrophoresis system for mutation identification of the COL7A1 gene with automated peak comparison.

Genet Test Mol Biomarkers 2009 Oct;13(5):589-97

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/gtmb.2009.0020DOI Listing
October 2009