Robert M W Hofstra

Summary

Affiliation: University Medical Center Groningen
Country: The Netherlands

Publications

  1. pmc Fine mapping of the 9q31 Hirschsprung's disease locus
    C S Tang
    Department of Psychiatry, The University of Hong Kong, Hong Kong, China
    Hum Genet 127:675-83. 2010
  2. pmc Tumor characteristics as an analytic tool for classifying genetic variants of uncertain clinical significance
    Robert M W Hofstra
    Department of Genetics, University Medical Center Groningen and University of Groningen, Groningen, The Netherlands
    Hum Mutat 29:1292-303. 2008
  3. doi request reprint PMS2 involvement in patients suspected of Lynch syndrome
    Renée C Niessen
    Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    Genes Chromosomes Cancer 48:322-9. 2009
  4. doi request reprint Do microsatellite instability profiles really differ between colorectal and endometrial tumors?
    Ana M Ferreira
    Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    Genes Chromosomes Cancer 48:552-7. 2009
  5. pmc Identifying candidate Hirschsprung disease-associated RET variants
    Grzegorz M Burzynski
    Department of Medical Genetics, University of Groningen, Groningen, The Netherlands
    Am J Hum Genet 76:850-8. 2005
  6. pmc CLMP is essential for intestinal development, but does not play a key role in cellular processes involved in intestinal epithelial development
    Christine S Van Der Werf
    Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands
    PLoS ONE 8:e54649. 2013
  7. ncbi request reprint Ras/ERK1/2-mediated STAT3 Ser727 phosphorylation by familial medullary thyroid carcinoma-associated RET mutants induces full activation of STAT3 and is required for c-fos promoter activation, cell mitogenicity, and transformation
    Ivan Plaza-Menacho
    Department of Genetics, Hanzeplein 1, 9700 RB, Groningen, The Netherlands
    J Biol Chem 282:6415-24. 2007
  8. doi request reprint The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen
    Peter C van den Akker
    Department of Genetics, University Medical Center Groningen, Hanzeplein 1, PO Box 30 001, 9700 RB Groningen, The Netherlands
    J Med Genet 48:160-7. 2011
  9. doi request reprint Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines
    Johanna C Herkert
    Department of Genetics, University Medical Center Groningen, University of Groningen, P O Box 30 001, 9700 RB Groningen, The Netherlands
    Eur J Cancer 47:965-82. 2011
  10. pmc Survival-related profile, pathways, and transcription factors in ovarian cancer
    Anne P G Crijns
    Department of Gynecologic Oncology, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands
    PLoS Med 6:e24. 2009

Collaborators

Detail Information

Publications76

  1. pmc Fine mapping of the 9q31 Hirschsprung's disease locus
    C S Tang
    Department of Psychiatry, The University of Hong Kong, Hong Kong, China
    Hum Genet 127:675-83. 2010
    ..The HSCR-association found for IKBKAP in Chinese suggests population specificity and implies that RET mutation carriers may have an additional risk. Our finding is supported by the role of IKBKAP in the development of the nervous system...
  2. pmc Tumor characteristics as an analytic tool for classifying genetic variants of uncertain clinical significance
    Robert M W Hofstra
    Department of Genetics, University Medical Center Groningen and University of Groningen, Groningen, The Netherlands
    Hum Mutat 29:1292-303. 2008
    ....
  3. doi request reprint PMS2 involvement in patients suspected of Lynch syndrome
    Renée C Niessen
    Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    Genes Chromosomes Cancer 48:322-9. 2009
    ..In conclusion, our study confirms the finding of previous studies that PMS2 is more frequently involved in Lynch syndrome than originally expected...
  4. doi request reprint Do microsatellite instability profiles really differ between colorectal and endometrial tumors?
    Ana M Ferreira
    Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    Genes Chromosomes Cancer 48:552-7. 2009
    ..We therefore suggest that the same MSI tests can be used for both tumor types...
  5. pmc Identifying candidate Hirschsprung disease-associated RET variants
    Grzegorz M Burzynski
    Department of Medical Genetics, University of Groningen, Groningen, The Netherlands
    Am J Hum Genet 76:850-8. 2005
    ..Interspecies comparison showed that only one of the six variations was located in a region also conserved in a nonmammalian species, making it the most likely candidate HSCR-associated variant...
  6. pmc CLMP is essential for intestinal development, but does not play a key role in cellular processes involved in intestinal epithelial development
    Christine S Van Der Werf
    Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands
    PLoS ONE 8:e54649. 2013
    ..Further research is needed to determine the role of CLMP in the development of the intestine...
  7. ncbi request reprint Ras/ERK1/2-mediated STAT3 Ser727 phosphorylation by familial medullary thyroid carcinoma-associated RET mutants induces full activation of STAT3 and is required for c-fos promoter activation, cell mitogenicity, and transformation
    Ivan Plaza-Menacho
    Department of Genetics, Hanzeplein 1, 9700 RB, Groningen, The Netherlands
    J Biol Chem 282:6415-24. 2007
    ..These data show that FMTC-RET mutants activate a Ras/ERK1/2/STAT3 Ser(727) pathway, which plays an important role in cell mitogenicity and transformation...
  8. doi request reprint The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen
    Peter C van den Akker
    Department of Genetics, University Medical Center Groningen, Hanzeplein 1, PO Box 30 001, 9700 RB Groningen, The Netherlands
    J Med Genet 48:160-7. 2011
    ..So far, 20 COL7A1 genotypes have been described in RDEB-I and genotype-phenotype correlations have not been studied extensively. The aim of the study was to gain more insight into the pathophysiology of this intriguing RDEB-I phenotype...
  9. doi request reprint Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines
    Johanna C Herkert
    Department of Genetics, University Medical Center Groningen, University of Groningen, P O Box 30 001, 9700 RB Groningen, The Netherlands
    Eur J Cancer 47:965-82. 2011
    ..We present an overview of the published gastrointestinal manifestations of CMMR-D syndrome and propose recommendations for gastro-intestinal screening...
  10. pmc Survival-related profile, pathways, and transcription factors in ovarian cancer
    Anne P G Crijns
    Department of Gynecologic Oncology, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands
    PLoS Med 6:e24. 2009
    ....
  11. ncbi request reprint MUTYH and the mismatch repair system: partners in crime?
    Renée C Niessen
    Department of Medical Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    Hum Genet 119:206-11. 2006
    ..002) and the published controls (P = 0.001). These results warrant further study to test the hypothesis of mutations in MMR genes (in particular MSH6) and MUTYH acting together to increase cancer risk...
  12. doi request reprint Biochemical characterization of MLH3 missense mutations does not reveal an apparent role of MLH3 in Lynch syndrome
    Jianghua Ou
    Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    Genes Chromosomes Cancer 48:340-50. 2009
    ..Our different biochemical assays yielded no evidence that the eight MLH3 UVs tested are the cause of hereditary colorectal cancer, including Lynch syndrome...
  13. doi request reprint Mononucleotide precedes dinucleotide repeat instability during colorectal tumour development in Lynch syndrome patients
    Ana M Ferreira
    Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands
    J Pathol 219:96-102. 2009
    ..As mononucleotide MSI proves to be highly sensitive for detecting mutation carriers, we propose the use of mononucleotide markers for the identification of possible Lynch syndrome patients...
  14. doi request reprint Natural gene therapy in dystrophic epidermolysis bullosa
    Peter C van den Akker
    Department of Dermatology, University Medical Center Groningen, University of Groningen, The Netherlands
    Arch Dermatol 148:213-6. 2012
    ..This "natural gene therapy" phenomenon long has been recognized in other forms of epidermolysis bullosa but only recently in dystrophic epidermolysis bullosa...
  15. doi request reprint A database to support the interpretation of human mismatch repair gene variants
    Jianghua Ou
    Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    Hum Mutat 29:1337-41. 2008
    ..Both activities are presently being organized by the International Society for Gastrointestinal Hereditary Tumours (InSiGHT; www.insight-group.org)...
  16. ncbi request reprint RET-familial medullary thyroid carcinoma mutants Y791F and S891A activate a Src/JAK/STAT3 pathway, independent of glial cell line-derived neurotrophic factor
    Ivan Plaza Menacho
    Department of Medical Genetics, University of Groningen, Groningen, The Netherlands
    Cancer Res 65:1729-37. 2005
    ..Finally, immunohistochemical analysis of FMTC tumor samples support the in vitro data, because nuclear localized, Y705-phosphorylated STAT3, as well as a high degree of RET expression at the plasma membrane was observed...
  17. pmc Evidence based selection of housekeeping genes
    Hendrik J M de Jonge
    Division of Pediatric Oncology Hematology, Department of Pediatrics, Beatrix Children s Hospital, Groningen, The Netherlands
    PLoS ONE 2:e898. 2007
    ..Therefore, the identified novel candidate housekeeping genes seem to be the most appropriate choice for normalizing gene expression data...
  18. doi request reprint Germline hypermethylation of MLH1 and EPCAM deletions are a frequent cause of Lynch syndrome
    Renée C Niessen
    Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    Genes Chromosomes Cancer 48:737-44. 2009
    ..Previously 27 pathogenic mutations were identified; the newly identified mutations now represent 16% of all mutations...
  19. ncbi request reprint High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics
    J Peter van Tintelen
    Department of Genetics, University Medical Center Groningen, University of Groningen, The Netherlands
    Am Heart J 154:1130-9. 2007
    ..Our goal was to analyze the LMNA gene in patients with DCM and/or conduction disease referred to the cardiogenetics outpatient clinic and to evaluate the prevalence of LMNA mutations and their clinical expression...
  20. ncbi request reprint The cardiac phenotype in patients with a CHD7 mutation
    Nicole Corsten-Janssen
    Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
    Circ Cardiovasc Genet 6:248-54. 2013
    ..We present the first, detailed, descriptive study on the cardiac phenotype of 299 patients with a CHD7 mutation and discuss the role of CHD7 in cardiac development...
  21. doi request reprint Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations
    Christine S Van Der Werf
    Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands
    Genet Med 15:310-3. 2013
    ..No mutations were found in the affected males of a family with presumed X-linked congenital short bowel syndrome or in an isolated male patient. Our aim was to identify the disease-causing mutation in these patients...
  22. doi request reprint 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
    Gerben Duns
    Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands
    Genes Chromosomes Cancer 52:165-73. 2013
    ..Expression levels of 13 of the 47 validated target genes for the downregulated miRNAs were increased more than twofold. Our data reinforce the importance of the epithelial to mesenchymal transition process in the development of ccRCC...
  23. doi request reprint Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene
    J Peter van Tintelen
    Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    Heart Rhythm 6:1574-83. 2009
    ..Mutations in the gene encoding desmin (DES), a major intermediate filament protein, can underlie this phenotype...
  24. doi request reprint KBP interacts with SCG10, linking Goldberg-Shprintzen syndrome to microtubule dynamics and neuronal differentiation
    Maria M Alves
    Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    Hum Mol Genet 19:3642-51. 2010
    ..Thus, our data indicate that KBP is involved in neuronal differentiation and that the central and enteric nervous system defects seen in GOSHS are likely caused by microtubule-related defects...
  25. doi request reprint Long-term follow-up of patients with recessive dystrophic epidermolysis bullosa in the Netherlands: expansion of the mutation database and unusual phenotype-genotype correlations
    Peter C van den Akker
    Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    J Dermatol Sci 56:9-18. 2009
    ....
  26. doi request reprint Variants in RET associated with Hirschsprung's disease affect binding of transcription factors and gene expression
    Yunia Sribudiani
    Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    Gastroenterology 140:572-582.e2. 2011
    ..We studied whether the A allele of Enh2 (Enh2-A) also affects RET gene expression...
  27. ncbi request reprint A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting
    Annemarie H van der Hout
    Department of Genetics, University Medical Centre Groningen, Groningen, The Netherlands
    Hum Mutat 27:654-66. 2006
    ..The results of screening of BRCA1 and BRCA2 in more than 4,000 families present a valuable overview of mutations in the Dutch population...
  28. doi request reprint Left ventricular outflow tract obstruction: should cardiac screening be offered to first-degree relatives?
    Wilhelmina S Kerstjens-Frederikse
    Department of Genetics, University Medical Centre Groningen, Groningen, The Netherlands
    Heart 97:1228-32. 2011
    ..To determine whether offering cardiac screening to relatives of patients with left ventricular outflow tract obstructions (LVOTOs) would be justified...
  29. ncbi request reprint Current concepts in RET-related genetics, signaling and therapeutics
    Ivan Plaza-Menacho
    Department of Genetics, University Medical Center Groningen, University of Groningen, Postbus 30 001, 9700 RB Groningen, The Netherlands
    Trends Genet 22:627-36. 2006
    ..This review focuses on the genetics and molecular mechanisms underlying the different inherited human neural-crest-related disorders in which RET dysfunction has a crucial role and discusses RET as a potential therapeutic target...
  30. doi request reprint New target genes in endometrial tumors show a role for the estrogen-receptor pathway in microsatellite-unstable cancers
    Ana M Ferreira
    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
    Hum Mutat 35:1514-23. 2014
    ..The high-mutation frequency combined with the expression data suggest, for the first time, an involvement of NRIP1 in endometrial cancer development. ..
  31. pmc Screening for germline DND1 mutations in testicular cancer patients
    Rolf H Sijmons
    Department of Genetics, University Medical Center Groningen, University of Groningen, PO Box 30001, 9700 RB, Groningen, The Netherlands
    Fam Cancer 9:439-42. 2010
    ..The role of human DND1 in normal physiology and disease, however, is still virtually unknown and it therefore warrants further research...
  32. doi request reprint Histone methyltransferase gene SETD2 is a novel tumor suppressor gene in clear cell renal cell carcinoma
    Gerben Duns
    Departments of Genetics and Pathology, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands
    Cancer Res 70:4287-91. 2010
    ..Identification of missense mutations in 2 out of 10 primary cRCC tumor samples added support to the involvement of loss of SETD2 function in the development of cRCC tumors...
  33. doi request reprint The international dystrophic epidermolysis bullosa patient registry: an online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations
    Peter C van den Akker
    Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    Hum Mutat 32:1100-7. 2011
    ..Altogether, this registry will greatly benefit the DEB patients...
  34. doi request reprint An updated and upgraded L1CAM mutation database
    Yvonne J Vos
    Department of Genetics, University Medical Centre Groningen, University of Groningen, P O Box 30001, 9700 RB Groningen, The Netherlands
    Hum Mutat 31:E1102-9. 2010
    ..The L1CAM Mutation Database is at: www.l1cammutationdatabase.info...
  35. doi request reprint Clinical relevance of 18F-FDG PET and 18F-DOPA PET in recurrent medullary thyroid carcinoma
    Hans H G Verbeek
    Department of Endocrinology, University Medical Center Groningen, Groningen, The Netherlands
    J Nucl Med 53:1863-71. 2012
    ..We compared (18)F-FDG PET and (18)F-dihydroxyphenylanaline ((18)F-DOPA) PET with biochemical parameters and survival to assess whether these imaging modalities could be of value in detecting progressive disease...
  36. pmc Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy
    Paul A van der Zwaag
    Department of Genetics, University of Groningen, University Medical Center Groningen, The Netherlands
    Eur J Heart Fail 14:1199-207. 2012
    ..To investigate whether phospholamban gene (PLN) mutations underlie patients diagnosed with either arrhythmogenic right ventricular cardiomyopathy (ARVC) or idiopathic dilated cardiomyopathy (DCM)...
  37. doi request reprint Design and validation of a conformation-sensitive capillary electrophoresis system for mutation identification of the COL7A1 gene with automated peak comparison
    Peter C van den Akker
    Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    Genet Test Mol Biomarkers 13:589-97. 2009
    ..2-100% (95% confidence interval). We conclude that this CSCE system is a rapid, reliable, cost-effective, and highly sensitive way of mutation scanning for COL7A1 in a molecular genetics service laboratory...
  38. doi request reprint Cardiovascular malformations caused by NOTCH1 mutations do not keep left: data on 428 probands with left-sided CHD and their families
    Wilhelmina S Kerstjens-Frederikse
    Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    Genet Med 18:914-23. 2016
    ..LS-CHD includes aortic valve stenosis, a bicuspid aortic valve, coarctation of the aorta, and hypoplastic left heart syndrome...
  39. pmc Mutations in SCG10 are not involved in Hirschsprung disease
    Maria M M Alves
    Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    PLoS ONE 5:e15144. 2010
    ..In conclusion, this study shows that SCG10 is not directly implicated in HSCR development. However, an indirect involvement of SCG10 cannot be ruled out as this can be due to a secondary effect caused by its direct interactors...
  40. doi request reprint The effects of four different tyrosine kinase inhibitors on medullary and papillary thyroid cancer cells
    Hans H G Verbeek
    Department of Genetics, University Medical Center Groningen, University of Groningen, P O Box 30 001, 9700 RB Groningen, The Netherlands
    J Clin Endocrinol Metab 96:E991-5. 2011
    ..Several TK inhibitors have been tested in clinical trials, but it is unknown which inhibitor is most effective and whether there is any specificity for particular RET mutations...
  41. doi request reprint Targeted exome sequencing in clear cell renal cell carcinoma tumors suggests aberrant chromatin regulation as a crucial step in ccRCC development
    Gerben Duns
    Department of Genetics, University of Groningen, University Medical Center Groningen, The Netherlands
    Hum Mutat 33:1059-62. 2012
    ..BAP1 encodes for BRCA1 associated protein-1, involved in histone deubiquitination. Taken together, the accumulating data suggest an important role for aberrant chromatin regulation in ccRCC development...
  42. doi request reprint CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome
    Christine S Van Der Werf
    Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    Gastroenterology 142:453-462.e3. 2012
    ..They also are born with intestinal malrotation. Because CSBS occurs in many consanguineous families, it is considered to be an autosomal-recessive disorder. We aimed to identify and characterize the genetic factor causing CSBS...
  43. ncbi request reprint Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes
    Jianghua Ou
    Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands
    Hum Mutat 28:1047-54. 2007
    ..We conclude that a large proportion of MMR UVs are likely to be pathogenic, suggesting that missense variants of MMR proteins do indeed play a role in HNPCC...
  44. pmc A new perspective on transcriptional system regulation (TSR): towards TSR profiling
    Rudolf S N Fehrmann
    Department of Genetics, Oncology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    PLoS ONE 3:e1656. 2008
    ..This might open new avenues for those performing gene expression profiling studies...
  45. ncbi request reprint Occurrence of deletion of a COL2A1 allele as the mutation in Stickler syndrome shows that a collagen type II dosage effect underlies this syndrome
    Annemarie H van der Hout
    Department of Clinical Genetics, University Hospital, Groningen, The Netherlands
    Hum Mutat 20:236. 2002
    ..Moreover, in mutation screening protocols for COL2A1 one should be aware of the possibility of large deletions, which are not detected by generally used PCR-based methods...
  46. doi request reprint Estrogens, MSI and Lynch syndrome-associated tumors
    Ana Monteiro Ferreira
    Department of Genetics, University Medical Center Groningen, University of Groningen, PO Box 30 001, 9700 RB Groningen, The Netherlands
    Biochim Biophys Acta 1796:194-200. 2009
    ..In this review we will also address the protective effect that high levels of estrogens have in MMR related neoplasias...
  47. ncbi request reprint Toward new strategies to select young endometrial cancer patients for mismatch repair gene mutation analysis
    Maran J W Berends
    Department of Gynaecology, University Hospital Groningen, Hanzeplein 1, PO Box 30 001, 9700 RB Groningen, The Netherlands
    J Clin Oncol 21:4364-70. 2003
    ....
  48. doi request reprint Regulators of gene expression in Enteric Neural Crest Cells are putative Hirschsprung disease genes
    Duco Schriemer
    Department of Neuroscience, Section Medical Physiology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
    Dev Biol 416:255-65. 2016
    ..The human orthologue of Npy2r maps to the HSCR susceptibility locus 4q31.3-q32.3, suggesting a role for NPY2R both in ENS development and in HSCR. ..
  49. doi request reprint Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy
    Rowida Almomani
    University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands
    J Am Coll Cardiol 67:515-25. 2016
    ..Although our understanding of the molecular basis of pediatric cardiomyopathy has improved, the underlying mechanism remains elusive in a substantial proportion of cases...
  50. doi request reprint High frequency of RPL22 mutations in microsatellite-unstable colorectal and endometrial tumors
    Ana M Ferreira
    Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, 9700, RB, The Netherlands
    Hum Mutat 35:1442-5. 2014
    ..Furthermore, considering the high mutation frequency found, our data point toward an important role for RPL22 in microsatellite instability carcinogenesis. ..
  51. doi request reprint The role of maternal-fetal cholesterol transport in early fetal life: current insights
    Maria E Baardman
    EUROCAT Registration, Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    Biol Reprod 88:24. 2013
    ....
  52. ncbi request reprint Localizing a putative mutation as the major contributor to the development of sporadic Hirschsprung disease to the RET genomic sequence between the promoter region and exon 2
    Grzegorz M Burzynski
    Department of Medical Genetics, University of Groningen, Groningen, The Netherlands
    Eur J Hum Genet 12:604-12. 2004
    ..An unknown functional disease variant(s) with a dosage-dependent effect in HSCR is likely located between the promoter region and exon 2 of RET...
  53. doi request reprint Perspectives for tailored chemoprevention and treatment of colorectal cancer in Lynch syndrome
    Dianne M Heijink
    Department of Medical Oncology, University Medical Center Groningen, University of Groningen, The Netherlands
    Crit Rev Oncol Hematol 80:264-77. 2011
    ..This review provides guidance for future studies in this field based on results from clinical and preclinical research...
  54. ncbi request reprint RET as a diagnostic and therapeutic target in sporadic and hereditary endocrine tumors
    Jan Willem B de Groot
    Department of Endocrinology, University Medical Center Groningen, University of Groningen, The Netherlands
    Endocr Rev 27:535-60. 2006
    ..However, a clinically useful therapeutic option for treating patients with RET-associated cancer is still not available...
  55. doi request reprint RET/PTC rearrangement is prevalent in follicular Hürthle cell carcinomas
    Margriet M De Vries
    Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands
    Histopathology 61:833-43. 2012
    ..In an attempt to clarify this issue, we analysed a series of Hürthle cell tumours for the presence of RET/PTC and PAX8/PPARG rearrangements and BRAF, HRAS and NRAS mutations...
  56. doi request reprint A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome
    Jorieke E H Bergman
    Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
    Hum Mutat 33:1251-60. 2012
    ..Finally, we show that CHD7 missense mutations are, in general, associated with a milder phenotype than truncating mutations...
  57. ncbi request reprint DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients
    Robert M W Hofstra
    Department of Medical Genetics, University of Groningen, Groningen, The Netherlands
    Hum Mutat 23:57-66. 2004
    ..In addition to these pathogenic changes, we detected 15 unique unclassified variants, i.e., changes for which a pathogenic nature is uncertain...
  58. doi request reprint Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis
    Yvonne J Vos
    Department of Genetics, University Medical Centre Groningen, Hanzeplein 1, 9713 GZ Groningen, The Netherlands
    J Med Genet 47:169-75. 2010
    ....
  59. pmc Trans-eQTLs reveal that independent genetic variants associated with a complex phenotype converge on intermediate genes, with a major role for the HLA
    Rudolf S N Fehrmann
    Department of Genetics, University Medical Center Groningen and University of Groningen, Groningen, The Netherlands
    PLoS Genet 7:e1002197. 2011
    ..Therefore, these trans-eQTLs could well represent some of the intermediate genes that connect genetic variants with their eventual complex phenotypic outcomes...
  60. ncbi request reprint Severe myocardial fibrosis caused by a deletion of the 5' end of the lamin A/C gene
    J Peter van Tintelen
    Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    J Am Coll Cardiol 49:2430-9. 2007
    ..The goal of this study was to identify the underlying gene defect in a family with inherited myocardial fibrosis...
  61. pmc Common arterial trunk and ventricular non-compaction in Lrp2 knockout mice indicate a crucial role of LRP2 in cardiac development
    Maria E Baardman
    Department of Genetics, University Medical Center Groningen, University of Groningen, Hanzeplein 1, Groningen 9713 GZ, The Netherlands
    Dis Model Mech 9:413-25. 2016
    ..This corroborates findings of cardiac anomalies in humans withLRP2mutations. Future studies should reveal the underlying signaling mechanisms in which LRP2 is involved during cardiogenesis. ..
  62. doi request reprint Congenital Short Bowel Syndrome: from clinical and genetic diagnosis to the molecular mechanisms involved in intestinal elongation
    Christine S Van Der Werf
    Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands
    Biochim Biophys Acta 1852:2352-61. 2015
    ..In this review, we present our current knowledge on CSBS and discuss hypotheses on how the recent genetic findings can help understand the cause of CSBS. ..
  63. doi request reprint Functional analyses of RET mutations in Chinese Hirschsprung disease patients
    Thomas Y Y Leon
    Division of Paediatric Surgery, Department of Surgery, The University of Hong Kong, Hong Kong, Special Administrative Region, China
    Birth Defects Res A Clin Mol Teratol 94:47-51. 2012
    ..Although an increasing number of HSCR-associated RET coding sequence (CDS) mutations have been identified in recent years, not many have been investigated for functional consequence on the RET protein...
  64. pmc TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension
    Wilhelmina S Kerstjens-Frederikse
    Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
    J Med Genet 50:500-6. 2013
    ..Mutations in the major PAH gene, BMPR2, were reported to cause PAH in only 10-16% of childhood-onset patients. We aimed to identify more genes associated with childhood-onset PAH...
  65. doi request reprint Identification of MOAG-4/SERF as a regulator of age-related proteotoxicity
    Tjakko J van Ham
    Department of Genetics, University Medical Centre Groningen, University of Groningen, Hanzeplein 1, 9700 RB Groningen, The Netherlands
    Cell 142:601-12. 2010
    ..Our results suggest that MOAG-4/SERF regulates age-related proteotoxicity through a previously unexplored pathway, which will open up new avenues for research on age-related, neurodegenerative diseases...
  66. doi request reprint A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy
    Paul A van der Zwaag
    Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    Hum Mutat 30:1278-83. 2009
    ..It can be searched to determine if variants have been published and whether they are considered pathogenic. External users are invited to add information to improve the quantity and quality of the data entered...
  67. ncbi request reprint The human leukocyte antigen region and colorectal cancer risk
    Mirjam M de Jong
    Department of Gastroenterology, University Hospital Groningen, Hanzeplein 1, 9700 RB Groningen, The Netherlands
    Dis Colon Rectum 48:303-6. 2005
    ....
  68. ncbi request reprint Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy
    J Peter van Tintelen
    Department of Clinical Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    Circulation 113:1650-8. 2006
    ..Hence, genetic screening can potentially be a valuable tool in the diagnostic workup of patients with ARVC...
  69. ncbi request reprint ABCD syndrome is caused by a homozygous mutation in the EDNRB gene
    Joke B G M Verheij
    Department of Medical Genetics, University of Groningen, Groningen, The Netherlands
    Am J Med Genet 108:223-5. 2002
    ..A homozygous nonsense mutation in exon 3 (R201X) of the EDNRB gene was found. We therefore suggest that ABCD syndrome is not a separate entity, but an expression of Shah-Waardenburg syndrome...
  70. doi request reprint Endocrine tumours: progressive metastatic medullary thyroid carcinoma: first- and second-line strategies
    Thera P Links
    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
    Eur J Endocrinol 172:R241-51. 2015
    ..Combining several agents would seem to be more promising, in particular agents that target RET with those that independently target RET signalling pathways or the more general mechanism of tumour progression. ..
  71. ncbi request reprint A substantial proportion of microsatellite-unstable colon tumors carry TP53 mutations while not showing chromosomal instability
    Jantine L Westra
    Department of Medical Genetics, University of Groningen, The Netherlands
    Genes Chromosomes Cancer 43:194-201. 2005
    ....
  72. doi request reprint The origin of fetal sterols in second-trimester amniotic fluid: endogenous synthesis or maternal-fetal transport?
    Maria E Baardman
    Eurocat Registration Northern Netherlands and Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
    Am J Obstet Gynecol 207:202.e19-25. 2012
    ..To gain more insight into the origin of the fetal cholesterol pool in early human pregnancy, we determined cholesterol and its precursors in the amniotic fluid of uncomplicated, singleton human pregnancies...
  73. pmc A biological question and a balanced (orthogonal) design: the ingredients to efficiently analyze two-color microarrays with Confirmatory Factor Analysis
    Anne P G Crijns
    Department of Gynecologic Oncology, University Medical Center Groningen and University of Groningen, PO Box 30 001, 9700 RB, Groningen, The Netherlands
    BMC Genomics 7:232. 2006
    ..We applied CFA to a microarray study performed to investigate cisplatin resistance in four ovarian cancer cell lines, which only differ in their degree of cisplatin resistance...
  74. pmc C. elegans model identifies genetic modifiers of alpha-synuclein inclusion formation during aging
    Tjakko J van Ham
    Department of Genetics, University Medical Centre Groningen and University of Groningen, Groningen, The Netherlands
    PLoS Genet 4:e1000027. 2008
    ..The processes and genes identified here present a framework for further study of the disease mechanism and provide candidate susceptibility genes and drug targets for Parkinson's disease and other alpha-synuclein related disorders...
  75. pmc Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant
    Maran J W Berends
    Department of Gastroenterology, University Hospital Groningen, Groningen, The Netherlands
    Am J Hum Genet 70:26-37. 2002
    ..We conclude that, in all patients suspected to have HNPCC, MSH6-mutation analysis should be considered. Neither MSI nor immunohistochemistry should be a definitive selection criterion for MSH6-mutation analysis...
  76. ncbi request reprint Distinct transcriptional changes in donor kidneys upon brain death induction in rats: insights in the processes of brain death
    Theo A Schuurs
    Department of Surgery, University Hospital Groningen, Groningen, The Netherlands
    Am J Transplant 4:1972-81. 2004
    ..These findings can be used to introduce specific cytoprotective interventions in the brain dead donor to better maintain or even increase organ viability...