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المؤلفون: Rob G.J. Mensink, G van der Steege, Chcm Buys, J. M. Cobben, Hans Scheffer, Rein P. Stulp
المصدر: European Journal of Human Genetics, 8(2), 79-86. Nature Publishing Group
مصطلحات موضوعية: survival motor neuron, Male, Heterozygote, DNA Mutational Analysis, Loss of Heterozygosity, Nerve Tissue Proteins, DE-NOVO, MOTOR-NEURON GENE, MOLECULAR ANALYSIS, QUANTITATIVE PCR, Biology, PHENOTYPE, DIAGNOSIS, Muscular Atrophy, Spinal, Exon, Plasmid, MISSENSE MUTATION, Genetics, medicine, Humans, Missense mutation, SMA, carrier testing, Allele, Cyclic AMP Response Element-Binding Protein, Genetics (clinical), spinal muscular atrophy, Sequence Deletion, Family Health, Genetic Carrier Screening, GERMANY WEST-THURINGEN, RNA-Binding Proteins, SMN Complex Proteins, DNA, Exons, Spinal muscular atrophy, medicine.disease, Molecular biology, SMN, Pedigree, Restriction site, COPY NUMBER, Real-time polymerase chain reaction, WERDNIG-HOFFMANN DISEASE, Female
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المؤلفون: Koichi Koizumi, Maritha J. Kotze, A Dolk, Chcm Buys, G de Jong, Carlos A. Rubio, Vanessa M. Hayes, Edgar Jaramillo, Premysl Slezak, J. J. Grobbelaar, R. van Wyk
المصدر: Genes, Chromosomes and Cancer. 27:202-208
مصطلحات موضوعية: Genetics, Cancer Research, endocrine system diseases, biology, Adenoma, Adenomatous polyposis coli, Colorectal cancer, Point mutation, medicine.disease, medicine.disease_cause, digestive system diseases, Flat Adenoma, Frameshift mutation, biology.protein, medicine, Cancer research, KRAS, Mutation frequency
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9722f343f69b4eb04eeeb2ab6b28d631
https://doi.org/10.1002/(sici)1098-2264(200002)27:2<202::aid-gcc13>3.0.co;2-3 -
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المؤلفون: van Ton Essen, R. A. Van Lingen, Robert M.W. Hofstra, Chcm Buys, Jgv Campagne, Katelijne Bouman, Jbgm Verheij, AY van der Veen, B Leegte
المصدر: American Journal of Medical Genetics, 86(2), 168-173. WILEY-LISS
مصطلحات موضوعية: CHROMOSOME-9, Genetics, Unequal crossing over, 15Q11-Q13, medicine.diagnostic_test, Psychomotor retardation, Aneuploidy, Chromosome 9, Biology, medicine.disease, PATIENT, GENE, partial tetrasomy 9p, Chromosomal crossover, MULTIPLE CONGENITAL-ANOMALIES, intrachromosomal triplication, Tetrasomy, medicine, de novo origin, PRENATAL-DIAGNOSIS, Tetrasomy 9p, medicine.symptom, Genetics (clinical), Fluorescence in situ hybridization
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31f586b4f1950f646eb614b41f0ed429
https://doi.org/10.1002/(sici)1096-8628(19990910)86:2<168::aid-ajmg16>3.0.co;2-q -
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المؤلفون: Marcel H. J. Ruiters, de Marieke Groot, Wha Dokter, Maria Brinker, de Louis Leij, Chcm Buys, Klaas Kok, Pmj McLaughlin, H van der Molen, BJ Kroesen
المساهمون: Vascular Ageing Programme (VAP), Translational Immunology Groningen (TRIGR), Guided Treatment in Optimal Selected Cancer Patients (GUTS), Restoring Organ Function by Means of Regenerative Medicine (REGENERATE)
المصدر: Cancer Immunology Immunotherapy, 48(6), 303-311. SPRINGER
مصطلحات موضوعية: Male, Cancer Research, Pathology, MONOCLONAL-ANTIBODY, THERAPY, Keratin 18, COLORECTAL-CARCINOMA, RANDOMIZED TRIAL, Animals, Genetically Modified, Immunoenzyme Techniques, chemistry.chemical_compound, Tumor Cells, Cultured, Immunology and Allergy, rat, Antibodies, Monoclonal, Epithelial cell adhesion molecule, Epithelial Cell Adhesion Molecule, CANCER, Oncology, Epidermoid carcinoma, Organ Specificity, HUMAN KERATIN-18 GENE, Keratins, Immunohistochemistry, Female, immunotherapy, EXPRESSION, medicine.medical_specialty, DNA, Complementary, Recombinant Fusion Proteins, Immunology, ANTIGEN, Biology, Transfection, GA733-2, Gene product, Antigen, Antigens, Neoplasm, In vivo, Complementary DNA, medicine, Animals, Humans, RNA, Messenger, Rats, Wistar, transgenic, Carcinoma, Immunization, Passive, TRANSCRIPTIONAL INSULATION, Epithelial Cells, Rats, Viscera, EGP-2, MICE, chemistry, Cancer research, Cell Adhesion Molecules, Neoplasm Transplantation
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المؤلفون: Chcm Buys, Thera P. Links, Robert M.W. Hofstra, A. Vermey, G Tan-Sindhunata, DC Aronson, GJ Brouwers-Smalbraak, R. P. Zwierstra, Rolf H. Sijmons, Saskia M. Maas, FA Wijburg
المساهمون: Damage and Repair in Cancer Development and Cancer Treatment (DARE), Guided Treatment in Optimal Selected Cancer Patients (GUTS), Pediatric surgery, Human genetics, Other departments, Faculteit der Geneeskunde
المصدر: Gut, 43(4), 542-547. BMJ PUBLISHING GROUP
Gut, 43(4), 542-547. BMJ Publishing Group
Sijmons, R H, Hofstra, R M W, Wijburg, F A, Links, T P, Zwierstra, R P, Vermey, A, Aronson, D C, Tan-Sindhunata, G, Brouwers-Smalbraak, G J, Maas, S M & Buys, C H C M 1998, ' Oncological implications of RET gene mutations in Hirschsprung's disease ', Gut, vol. 43, no. 4, pp. 542-547 . https://doi.org/10.1136/gut.43.4.542
Scopus-Elsevier
Gut, 43, 542-547. BMJ Publishing Groupمصطلحات موضوعية: Oncology, Male, Pathology, endocrine system diseases, MEDULLARY-THYROID CARCINOMA, medicine.medical_treatment, Disease, RECEPTOR TYROSINE KINASE, TERM FOLLOW-UP, medicine.disease_cause, PHENOTYPE, Proto-Oncogene Mas, FAMILIES, Medicine, Drosophila Proteins, Multiple endocrine neoplasia, Hirschsprung's disease, Mutation, Gastroenterology, Motility, Pedigree, Proto-Oncogene Proteins c-ret, Child, Preschool, MULTIPLE ENDOCRINE NEOPLASIA, PROTOONCOGENE MUTATIONS, Female, DNA analysis, Adult, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, digestive system, TYPE-2, Germline mutation, Internal medicine, Proto-Oncogene Proteins, MANAGEMENT, Humans, Hirschsprung Disease, 2A, Germ-Line Mutation, business.industry, multiple endocrine neoplasia type 2A, Thyroidectomy, Receptor Protein-Tyrosine Kinases, medicine.disease, digestive system diseases, Clinical research, business, RET
وصف الملف: application/pdf
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المؤلفون: Päivi Peltomäki, Ying Wu, Lauri A. Aaltonen, Nyström-Lahti M, Robert M.W. Hofstra, A delaChapelle, Chcm Buys, Jan Osinga, Mwg Looman
المصدر: Genes, Chromosomes and Cancer. 18:269-278
مصطلحات موضوعية: Cancer Research, Colorectal cancer, nutritional and metabolic diseases, Microsatellite instability, Biology, medicine.disease, MLH1, Molecular biology, 3. Good health, Cancer syndrome, Loss of heterozygosity, Germline mutation, MSH2, Genetics, medicine, DNA mismatch repair
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::317a0a36dd3e5dafd142b090345418df
https://doi.org/10.1002/(sici)1098-2264(199704)18:4<269::aid-gcc4>3.0.co;2-z -
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المؤلفون: R.M. Landsvater, Hkp vanAmstel, Robert M.W. Hofstra, Rpm Jansen, Cjm Lips, Chcm Buys
المصدر: HUMAN GENETICS, 97(1), 11-14. SPRINGER
مصطلحات موضوعية: Proband, DNA Mutational Analysis, Molecular Sequence Data, Multiple Endocrine Neoplasia Type 2a, Multiple Endocrine Neoplasia Type 2b, RET proto-oncogene, Biology, Polymerase Chain Reaction, Proto-Oncogene Mas, law.invention, Exon, law, Proto-Oncogene Proteins, Proto-Oncogenes, Genetics, medicine, Drosophila Proteins, Humans, Point Mutation, Amino Acid Sequence, Thyroid Neoplasms, Genetics (clinical), Polymerase chain reaction, DNA Primers, Netherlands, Genetic testing, Base Sequence, medicine.diagnostic_test, Proto-Oncogene Proteins c-ret, Receptor Protein-Tyrosine Kinases, Exons, PROTOONCOGENE, Human genetics, Carcinoma, Medullary, Mutation, Mutation (genetic algorithm), Mutation testing
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المؤلفون: Tg Draaijers, Jt Dendunnen, Hans Scheffer, Pm Grootscholten, C. Brahe, Velona, Gjb Vanommen, G Vandersteege, R Anzevino, Jan Osinga, Chcm Buys
المصدر: European Journal of Human Genetics. 3:87-95
مصطلحات موضوعية: Candidate gene, DNA, Complementary, Transcription, Genetic, Pseudogene, Restriction Mapping, Nerve Tissue Proteins, Locus (genetics), Biology, Muscular Atrophy, Spinal, Transcription Factors, TFII, Gene mapping, Cyclins, Complementary DNA, Genetics, Humans, RNA, Messenger, Cyclic AMP Response Element-Binding Protein, Chromosomes, Artificial, Yeast, Genetics (clinical), Contig, cDNA library, Microfilament Proteins, DNA Helicases, Chromosome Mapping, RNA-Binding Proteins, SMN Complex Proteins, Blotting, Northern, SMA, Molecular biology, Neuronal Apoptosis-Inhibitory Protein, Actin Depolymerizing Factors, Organ Specificity, Chromosomes, Human, Pair 5, Transcription Factor TFIIH, Transcription Factors
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::765979e4746bb1f058d69f7f2f2db4d0
https://doi.org/10.1159/000472281 -
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المؤلفون: C. Brahe, Stefania Zappata, Lp Tenkate, Giovanni Neri, Chcm Buys, J. M. Cobben, Jan Osinga, Hans Scheffer, G Vandersteege, Gjb Vanommen
المصدر: GENOMICS, 22(1), 219-222. ACADEMIC PRESS INC ELSEVIER SCIENCE
مصطلحات موضوعية: Genetic Markers, Male, CHROMOSOME-5, Locus (genetics), Genes, Recessive, MICROSATELLITE POLYMORPHISMS, Biology, DNA, Satellite, REGION, Muscular Atrophy, Spinal, Gene mapping, DNA POLYMORPHISMS, Genetics, medicine, LOCUS, LINKAGE, Humans, Gene, Chromosomes, Artificial, Yeast, Proximal spinal muscular atrophy, COMMITTEE, MAPPED GENES, Recombination, Genetic, CATALOGS, SPINAL MUSCULAR-ATROPHY, Chromosome Mapping, Spinal muscular atrophy, SMA, medicine.disease, Major gene, Pedigree, Haplotypes, Genetic marker, Female, Polymorphism, Restriction Fragment Length
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المؤلفون: S. Störkel, Jw Oosterhuis, B. de Jong, Trijnie Dijkhuizen, P. van der Vlies, AH van der Hout, E. van den Berg, Chcm Buys
المصدر: International Journal of Cancer, 53(3), 353-357. Wiley
مصطلحات موضوعية: Heterozygote, Cancer Research, medicine.medical_specialty, Pathology, Mitotic crossover, CARCINOMA, Chromosome Disorders, Biology, MOLECULAR ANALYSIS, Loss of heterozygosity, Gene duplication, medicine, Humans, Carcinoma, Renal Cell, Sequence Deletion, Chromosome Aberrations, DELETION, Breakpoint, Cytogenetics, Chromosome, CYTOGENETICS, Kidney Neoplasms, Oncology, Chromosome 3, Clear cell carcinoma, Chromosomes, Human, Pair 3, Polymorphism, Restriction Fragment Length
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