المؤلفون: Jongbloed, JD, Posafalvi, A, Niessen, RC, Hoedemaekers, YM, van der Zwaag, PA, Barge-Schaapveld, DQ, Piers, SR, van der Smagt, JJ, Asselbergs, FW, de Boer, RA, van den Berg, MP, Almomani, R, Sinke, RJ, van Tintelen, JP

المساهمون: Human Genetics

المصدر: Circulation, 130(Suppl. 2). Lippincott Williams and Wilkins

URL الوصول: https://explore.openaire.eu/search/publication?articleId=narcis______::d68f980495d389b7da1e3b5ac533de72
https://pure.amc.nl/en/publications/genepanel-based-next-generation-sequencing-ngs-greatly-improves-clinical-genetic-diagnostics-in-inherited-cardiomyopathies(02b9022f-9015-4585-a464-86effb7ece55).html

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المؤلفون: Knopperts AP; Department of Genetics, University Medical Center Groningen, University of Groningen, Hanzeplein 1, P.O. Box 30001, 9700RB, Groningen, The Netherlands., Nielsen M, Niessen RC, Tops CM, Jorritsma B, Varkevisser J, Wijnen J, Siezen CL, Heine-Bröring RC, van Kranen HJ, Vos YJ, Westers H, Kampman E, Sijmons RH, Hes FJ

المصدر: Familial cancer [Fam Cancer] 2013 Mar; Vol. 12 (1), pp. 43-50.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Springer Country of Publication: Netherlands NLM ID: 100898211 Publication Model: Print Cited Medium: Internet ISSN: 1573-7292 (Electronic) Linking ISSN: 13899600 NLM ISO Abbreviation: Fam Cancer Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Predisposition to Disease*, Adenomatous Polyps/*genetics , Colorectal Neoplasms/*genetics , Colorectal Neoplasms, Hereditary Nonpolyposis/*genetics , DNA Glycosylases/*genetics, Adult ; Aged ; Female ; Germ-Line Mutation ; Humans ; Male ; Middle Aged ; Mutation ; Netherlands ; Young Adult

المؤلفون: Herkert JC; Department of Genetics, University Medical Center Groningen, University of Groningen, P.O. Box 30.001, 9700 RB Groningen, The Netherlands. j.c.herkert@medgen.umcg.nl, Niessen RC, Olderode-Berends MJ, Veenstra-Knol HE, Vos YJ, van der Klift HM, Scheenstra R, Tops CM, Karrenbeld A, Peters FT, Hofstra RM, Kleibeuker JH, Sijmons RH

المصدر: European journal of cancer (Oxford, England : 1990) [Eur J Cancer] 2011 May; Vol. 47 (7), pp. 965-82. Date of Electronic Publication: 2011 Mar 04.

نوع المنشور: Case Reports; Journal Article; Review

بيانات الدورية: Publisher: Elsevier Science Ltd Country of Publication: England NLM ID: 9005373 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-0852 (Electronic) Linking ISSN: 09598049 NLM ISO Abbreviation: Eur J Cancer Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Adenosine Triphosphatases/*genetics , DNA Repair Enzymes/*genetics , DNA-Binding Proteins/*genetics , Intestinal Neoplasms/*genetics , Intestinal Polyposis/*genetics, Adult ; Base Pair Mismatch ; Child ; Child, Preschool ; DNA Repair ; Family Health ; Female ; Follow-Up Studies ; Gene Deletion ; Germ-Line Mutation ; Humans ; Immunohistochemistry/methods ; Male ; Microsatellite Instability ; Microsatellite Repeats ; Mismatch Repair Endonuclease PMS2 ; Syndrome

المؤلفون: Kuiper RP; Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands. r.kuiper@antrg.umcn.nl, Vissers LE, Venkatachalam R, Bodmer D, Hoenselaar E, Goossens M, Haufe A, Kamping E, Niessen RC, Hogervorst FB, Gille JJ, Redeker B, Tops CM, van Gijn ME, van den Ouweland AM, Rahner N, Steinke V, Kahl P, Holinski-Feder E, Morak M, Kloor M, Stemmler S, Betz B, Hutter P, Bunyan DJ, Syngal S, Culver JO, Graham T, Chan TL, Nagtegaal ID, van Krieken JH, Schackert HK, Hoogerbrugge N, van Kessel AG, Ligtenberg MJ

المصدر: Human mutation [Hum Mutat] 2011 Apr; Vol. 32 (4), pp. 407-14. Date of Electronic Publication: 2011 Mar 01.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Variation*, Antigens, Neoplasm/*genetics , Cell Adhesion Molecules/*genetics , Colorectal Neoplasms, Hereditary Nonpolyposis/*genetics , Germ-Line Mutation/*genetics , Sequence Deletion/*genetics, Antigens, Neoplasm/metabolism ; Base Sequence ; Cell Adhesion Molecules/metabolism ; DNA Methylation ; Epithelial Cell Adhesion Molecule ; Models, Genetic ; Molecular Sequence Data ; MutS Homolog 2 Protein/genetics ; MutS Homolog 2 Protein/metabolism ; Netherlands ; Promoter Regions, Genetic ; Recurrence

المؤلفون: Rump P; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands. p.rump@medgen.umcg.nl, Niessen RC, Verbruggen KT, Brouwer OF, de Raad M, Hordijk R

المصدر: Clinical genetics [Clin Genet] 2011 Feb; Vol. 79 (2), pp. 183-8.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Mediator Complex/*genetics, Acrocallosal Syndrome/genetics ; Adolescent ; Agenesis of Corpus Callosum ; Amino Acid Sequence ; Anus, Imperforate/genetics ; Constipation/genetics ; Humans ; Infant ; Male ; Mental Retardation, X-Linked/genetics ; Molecular Sequence Data ; Muscle Hypotonia/congenital ; Muscle Hypotonia/genetics ; Pedigree ; Sequence Alignment

SCR Disease Name: Opitz-Kaveggia syndrome