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Tytuł:
NIPTeR: an R package for fast and accurate trisomy prediction in non-invasive prenatal testing.
Autorzy:
Johansson LF; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands. .; Genomics Coordination Center, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands. .
de Weerd HA; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; Genomics Coordination Center, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; School of Bioscience, Systems biology research center, University of Skövde, Skövde, Sweden.
de Boer EN; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
van Dijk F; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; Genomics Coordination Center, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Te Meerman GJ; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Sijmons RH; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Sikkema-Raddatz B; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Swertz MA; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; Genomics Coordination Center, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
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Źródło:
BMC bioinformatics [BMC Bioinformatics] 2018 Dec 17; Vol. 19 (1), pp. 531. Date of Electronic Publication: 2018 Dec 17.
Typ publikacji:
Journal Article
MeSH Terms:
Algorithms*
High-Throughput Nucleotide Sequencing/*methods
Prenatal Diagnosis/*methods
Trisomy/*diagnosis
Female ; Humans ; Maternal Serum Screening Tests ; Predictive Value of Tests ; Pregnancy
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A "late-but-fitter revertant cell" explains the high frequency of revertant mosaicism in epidermolysis bullosa.
Autorzy:
van den Akker PC; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, the Netherlands.; University of Groningen, University Medical Center Groningen, Department of Dermatology, Groningen, the Netherlands.
Pasmooij AMG; University of Groningen, University Medical Center Groningen, Department of Dermatology, Groningen, the Netherlands.
Joenje H; Department of Clinical Genetics and the Cancer Center Amsterdam/VUmc Institute for Cancer and Immunology, VU University Medical Center, Amsterdam, the Netherlands.
Hofstra RMW; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands.
Te Meerman GJ; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, the Netherlands.
Jonkman MF; University of Groningen, University Medical Center Groningen, Department of Dermatology, Groningen, the Netherlands.
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Źródło:
PloS one [PLoS One] 2018 Feb 22; Vol. 13 (2), pp. e0192994. Date of Electronic Publication: 2018 Feb 22 (Print Publication: 2018).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Models, Biological*
Mosaicism*
Mutation*
Polymorphism, Single Nucleotide*
Epidermolysis Bullosa/*genetics
Epidermolysis Bullosa/*physiopathology
Keratinocytes/*cytology
Aged ; Autoantigens/genetics ; Cell Proliferation/genetics ; Child ; Epidermolysis Bullosa/embryology ; Epidermolysis Bullosa/pathology ; Germ-Line Mutation ; Humans ; Keratinocytes/pathology ; Keratinocytes/physiology ; Male ; Middle Aged ; Non-Fibrillar Collagens/genetics ; Skin/growth & development ; Skin/pathology ; Skin/physiopathology ; Stem Cells ; Collagen Type XVII
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
NIPTRIC: an online tool for clinical interpretation of non-invasive prenatal testing (NIPT) results.
Autorzy:
Sikkema-Raddatz B; University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, the Netherlands.
Johansson LF; University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, the Netherlands.; University of Groningen, University Medical Centre Groningen, Genomics Coordination Centre, Department of Genetics, Groningen, the Netherlands.
de Boer EN; University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, the Netherlands.
Boon EM; Department of Clinical Genetics, Laboratory for Diagnostic Genome Analysis, Leiden University Medical Centre, Leiden, the Netherlands.
Suijkerbuijk RF; University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, the Netherlands.
Bouman K; University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, the Netherlands.
Bilardo CM; University of Groningen, University Medical Centre Groningen, Department of Obstetrics and Gynaecology, Groningen, the Netherlands.
Swertz MA; University of Groningen, University Medical Centre Groningen, Genomics Coordination Centre, Department of Genetics, Groningen, the Netherlands.
Dijkstra M; University of Groningen, University Medical Centre Groningen, Genomics Coordination Centre, Department of Genetics, Groningen, the Netherlands.
van Langen IM; University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, the Netherlands.
Sinke RJ; University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, the Netherlands.
Te Meerman GJ; University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, the Netherlands.
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Źródło:
Scientific reports [Sci Rep] 2016 Dec 05; Vol. 6, pp. 38359. Date of Electronic Publication: 2016 Dec 05.
Typ publikacji:
Journal Article
MeSH Terms:
Cell-Free Nucleic Acids/*blood
Down Syndrome/*diagnosis
Genetic Testing/*methods
Prenatal Diagnosis/*methods
Trisomy/*diagnosis
Adult ; Age Factors ; Amniocentesis ; Cell-Free Nucleic Acids/genetics ; Decision Making ; Down Syndrome/genetics ; Down Syndrome/pathology ; Female ; Fetus ; Gestational Age ; Humans ; Predictive Value of Tests ; Pregnancy ; Research Design ; Risk Assessment ; Trisomy/genetics ; Trisomy/pathology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Familial Aggregation between the 14th and 21st Century and Type 2 Diabetes Risk in an Isolated Dutch Population.
Autorzy:
de Visser KL; Diabetes Centre, Isala, 8025 BT, Zwolle, The Netherlands; Department of General practice, University Medical Center Groningen and University of Groningen, 9700 RB, Groningen, The Netherlands; General practice Urk, 8322 BA, The Netherlands.
Landman GW; Diabetes Centre, Isala, 8025 BT, Zwolle, The Netherlands; Department of internal medicine, Gelre hospital, 7334 DZ, Apeldoorn, The Netherlands; Langerhans Medical Research Institute, Zwolle, The Netherlands.
Kleefstra N
Meyboom-de Jong B; Diabetes Centre, Isala, 8025 BT, Zwolle, The Netherlands; Department of General practice, University Medical Center Groningen and University of Groningen, 9700 RB, Groningen, The Netherlands.
de Visser W; General practice Urk, 8322 BA, The Netherlands.
te Meerman GJ; Department of genetics, University Medical Center Groningen and University of Groningen, 9700 RB, Groningen, The Netherlands.
Bilo HJ; Diabetes Centre, Isala, 8025 BT, Zwolle, The Netherlands; Department of Internal Medicine, University Medical Center Groningen and University of Groningen, 9700 RB, Groningen, The Netherlands.
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Źródło:
PloS one [PLoS One] 2015 Jul 20; Vol. 10 (7), pp. e0132549. Date of Electronic Publication: 2015 Jul 20 (Print Publication: 2015).
Typ publikacji:
Journal Article
MeSH Terms:
Family*
Genetic Predisposition to Disease*
Diabetes Mellitus, Type 2/*genetics
Case-Control Studies ; Databases, Genetic ; Female ; Humans ; Male ; Netherlands ; Pedigree ; Risk Factors
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Gene expression analysis identifies global gene dosage sensitivity in cancer.
Autorzy:
Fehrmann RS; 1] Department of Medical Oncology, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands. [2] Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.
Karjalainen JM; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.
Krajewska M; Department of Medical Oncology, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.
Westra HJ; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.
Maloney D; National Center for Advancing Translational Sciences, US National Institutes of Health, Rockville, Maryland, USA.
Simeonov A; National Center for Advancing Translational Sciences, US National Institutes of Health, Rockville, Maryland, USA.
Pers TH; 1] Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA. [2] Division of Endocrinology, Children's Hospital Boston, Boston, Massachusetts, USA. [3] Center for Basic and Translational Obesity Research, Children's Hospital Boston, Boston, Massachusetts, USA. [4] Department of Systems Biology, Center for Biological Sequence Analysis, Technical University of Denmark, Lyngby, Denmark.
Hirschhorn JN; 1] Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA. [2] Division of Endocrinology, Children's Hospital Boston, Boston, Massachusetts, USA. [3] Center for Basic and Translational Obesity Research, Children's Hospital Boston, Boston, Massachusetts, USA. [4] Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA.
Jansen RC; Groningen Bioinformatics Centre, Groningen Biomolecular Sciences and Biotechnology Institute, University of Groningen, Haren, the Netherlands.
Schultes EA; 1] Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands. [2] BioSemantics Group, Leiden Institute of Advanced Computer Science, Leiden University, Leiden, the Netherlands.
van Haagen HH; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands.
de Vries EG; Department of Medical Oncology, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.
te Meerman GJ; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.
Wijmenga C; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.
van Vugt MA; Department of Medical Oncology, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.
Franke L; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.
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Źródło:
Nature genetics [Nat Genet] 2015 Feb; Vol. 47 (2), pp. 115-25. Date of Electronic Publication: 2015 Jan 12.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
DNA Copy Number Variations*
Gene Dosage*
Genomics*
Transcriptome*
Gene Expression Regulation, Neoplastic/*genetics
Neoplasms/*genetics
Comparative Genomic Hybridization ; Gene Expression Profiling ; Gene Regulatory Networks ; Genetic Loci ; Humans ; RNA, Messenger/genetics ; RNA, Neoplasm/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Charles Buys (1942-2014).
Autorzy:
Sijmons RH; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
te Meerman GJ; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Hofstra RM; Department of Clinical Genetics, University of Rotterdam, Erasmus MC, Rotterdam, The Netherlands.
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Źródło:
European journal of human genetics : EJHG [Eur J Hum Genet] 2014 Dec; Vol. 22 (12), pp. 1343-4.
Typ publikacji:
Biography; Historical Article; Portrait
MeSH Terms:
Genetics, Medical/*history
Carcinoma, Renal Cell/genetics ; Carcinoma, Renal Cell/therapy ; Genes, Tumor Suppressor/physiology ; History, 20th Century ; History, 21st Century ; Humans ; Netherlands ; Small Cell Lung Carcinoma/genetics ; Small Cell Lung Carcinoma/therapy ; Societies, Scientific
Personal Name as Subject:
Buys C
Biography
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Unraveling the regulatory mechanisms underlying tissue-dependent genetic variation of gene expression.
Autorzy:
Fu J; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands. />Wolfs MG
Deelen P
Westra HJ
Fehrmann RS
Te Meerman GJ
Buurman WA
Rensen SS
Groen HJ
Weersma RK
van den Berg LH
Veldink J
Ophoff RA
Snieder H
van Heel D
Jansen RC
Hofker MH
Wijmenga C
Franke L
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Źródło:
PLoS genetics [PLoS Genet] 2012 Jan; Vol. 8 (1), pp. e1002431. Date of Electronic Publication: 2012 Jan 19.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Gene Expression Regulation*
Blood Proteins/*genetics
Intra-Abdominal Fat/*metabolism
Liver/*metabolism
Muscle, Skeletal/*metabolism
Polymorphism, Single Nucleotide/*genetics
Quantitative Trait Loci/*genetics
Subcutaneous Tissue/*metabolism
Adolescent ; Adult ; Aged ; Alleles ; Female ; Gene Expression Profiling ; Genome, Human ; Genotype ; Humans ; Male ; Middle Aged ; Organ Specificity ; Regulatory Sequences, Nucleic Acid/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Trans-eQTLs reveal that independent genetic variants associated with a complex phenotype converge on intermediate genes, with a major role for the HLA.
Autorzy:
Fehrmann RS; Department of Genetics, University Medical Center Groningen and University of Groningen, Groningen, The Netherlands.
Jansen RC
Veldink JH
Westra HJ
Arends D
Bonder MJ
Fu J
Deelen P
Groen HJ
Smolonska A
Weersma RK
Hofstra RM
Buurman WA
Rensen S
Wolfs MG
Platteel M
Zhernakova A
Elbers CC
Festen EM
Trynka G
Hofker MH
Saris CG
Ophoff RA
van den Berg LH
van Heel DA
Wijmenga C
Te Meerman GJ
Franke L
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Źródło:
PLoS genetics [PLoS Genet] 2011 Aug; Vol. 7 (8), pp. e1002197. Date of Electronic Publication: 2011 Aug 04.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Chromosome Mapping*
Gene Expression Regulation*
Genetic Variation*
Phenotype*
HLA Antigens/*genetics
Quantitative Trait Loci/*genetics
Gene Expression Profiling ; Genome-Wide Association Study ; Genotype ; Humans ; Monocytes/metabolism ; Polymorphism, Single Nucleotide/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
An extensive screen of the HLA region reveals an independent association of HLA class I and class II with susceptibility for systemic lupus erythematosus.
Autorzy:
Martens HA; Department of Rheumatology and Clinical Immunology, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands. />Nolte IM
van der Steege G
Schipper M
Kallenberg CG
Te Meerman GJ
Bijl M
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Źródło:
Scandinavian journal of rheumatology [Scand J Rheumatol] 2009; Vol. 38 (4), pp. 256-62.
Typ publikacji:
Comparative Study; Journal Article
MeSH Terms:
Genetic Predisposition to Disease/*epidemiology
HLA-D Antigens/*genetics
Histocompatibility Antigens Class I/*genetics
Lupus Erythematosus, Systemic/*epidemiology
Lupus Erythematosus, Systemic/*genetics
Adult ; Age of Onset ; Aged ; Alleles ; Case-Control Studies ; Cohort Studies ; Female ; Gene Expression Regulation ; Genetic Testing/methods ; Genotype ; Humans ; Incidence ; Linkage Disequilibrium/genetics ; Lupus Erythematosus, Systemic/immunology ; Male ; Middle Aged ; Netherlands ; Pedigree ; Polymerase Chain Reaction ; Probability ; Risk Assessment ; Severity of Illness Index ; Young Adult
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
HLA-G protein expression as a potential immune escape mechanism in classical Hodgkin's lymphoma.
Autorzy:
Diepstra A; Department of Pathology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands. />Poppema S
Boot M
Visser L
Nolte IM
Niens M
Te Meerman GJ
van den Berg A
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Źródło:
Tissue antigens [Tissue Antigens] 2008 Mar; Vol. 71 (3), pp. 219-26.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
HLA Antigens/*metabolism
Histocompatibility Antigens Class I/*metabolism
Hodgkin Disease/*immunology
Adolescent ; Adult ; Aged ; Alleles ; Child ; Female ; Genetic Markers ; Genotype ; HLA Antigens/genetics ; HLA-A Antigens/genetics ; HLA-G Antigens ; Herpesvirus 4, Human/isolation & purification ; Histocompatibility Antigens Class I/genetics ; Hodgkin Disease/genetics ; Hodgkin Disease/virology ; Humans ; Immunohistochemistry ; Male ; Middle Aged ; Reed-Sternberg Cells/immunology ; Reed-Sternberg Cells/virology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
A new perspective on transcriptional system regulation (TSR): towards TSR profiling.
Autorzy:
Fehrmann RS; Department of Genetics, Oncology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
de Jonge HJ
Ter Elst A
de Vries A
Crijns AG
Weidenaar AC
Gerbens F
de Jong S
van der Zee AG
de Vries EG
Kamps WA
Hofstra RM
Te Meerman GJ
de Bont ES
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Źródło:
PloS one [PLoS One] 2008 Feb 20; Vol. 3 (2), pp. e1656. Date of Electronic Publication: 2008 Feb 20.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Gene Expression Regulation*
Regulatory Elements, Transcriptional*
Gene Expression Profiling/*methods
Transcription, Genetic/*genetics
Animals ; Gene Regulatory Networks ; Mice ; Oligonucleotide Array Sequence Analysis
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Microarray amplification bias: loss of 30% differentially expressed genes due to long probe - poly(A)-tail distances.
Autorzy:
Boelens MC; Department of Pathology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands. .
te Meerman GJ
Gibcus JH
Blokzijl T
Boezen HM
Timens W
Postma DS
Groen HJ
van den Berg A
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Źródło:
BMC genomics [BMC Genomics] 2007 Aug 15; Vol. 8, pp. 277. Date of Electronic Publication: 2007 Aug 15.
Typ publikacji:
Comparative Study; Evaluation Study; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Artifacts*
Gene Expression Profiling*
Nucleic Acid Amplification Techniques/*methods
Nucleic Acid Probes/*chemistry
Oligonucleotide Array Sequence Analysis/*methods
Poly A/*metabolism
Humans ; Principal Component Analysis ; RNA, Messenger/chemistry ; RNA, Messenger/isolation & purification ; RNA, Messenger/metabolism ; Reverse Transcriptase Polymerase Chain Reaction ; Signal Processing, Computer-Assisted ; Tumor Cells, Cultured
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
A biological question and a balanced (orthogonal) design: the ingredients to efficiently analyze two-color microarrays with Confirmatory Factor Analysis.
Autorzy:
Crijns AP; Department of Gynecologic Oncology, University Medical Center Groningen and University of Groningen, PO-box 30.001, 9700 RB, Groningen, The Netherlands. />Gerbens F
Plantinga AE
Meersma GJ
de Jong S
Hofstra RM
de Vries EG
van der Zee AG
de Bock GH
te Meerman GJ
Pokaż więcej
Źródło:
BMC genomics [BMC Genomics] 2006 Sep 12; Vol. 7, pp. 232. Date of Electronic Publication: 2006 Sep 12.
Typ publikacji:
Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Factor Analysis, Statistical*
Research Design*
Oligonucleotide Array Sequence Analysis/*statistics & numerical data
Antineoplastic Agents, Alkylating/pharmacology ; Cell Line, Tumor/drug effects ; Cisplatin/pharmacology ; DNA, Neoplasm/genetics ; Drug Resistance, Neoplasm/genetics ; Female ; Humans ; Models, Biological ; Ovarian Neoplasms/pathology ; Principal Component Analysis ; RNA, Neoplasm/genetics ; Reverse Transcriptase Polymerase Chain Reaction
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Wyświetlanie 1-20 z 32

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