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المؤلفون: Ben C.J. Hamel, Yvonne J. Vos, Nicolette S. den Hollander, Mariet W. Elting, Jenneke A. Stegeman, Merel C. van Maarle, Ana Maria Fortuna, Lone Sunde, Irene Stolte-Dijkstra, Hermien E. K. de Walle, Annelies M. ten Berge, Martijn Bruining, Connie Schrander-Stumpel, Robert M.W. Hofstra, Krista K. Bos
المساهمون: Faculteit der Geneeskunde, Genetica & Celbiologie, RS: GROW - School for Oncology and Reproduction, Human genetics, Other Research, Human Genetics, Reproductive Origins of Adult Health and Disease (ROAHD)
المصدر: Journal of Medical Genetics, 47(3), 169-175. BMJ Publishing Group
Journal of Medical Genetics, 47, 169-75
Journal of medical genetics, 47(3), 169-175. BMJ Publishing Group
JOURNAL OF MEDICAL GENETICS, 47(3), 169-175. BMJ PUBLISHING GROUP
Journal of Medical Genetics, 47(3), 169-75
Journal of Medical Genetics, 47, 3, pp. 169-75
Vos, Y J, de Walle, H E K, Bos, K K, Stegeman, J A, Ten Berge, A M, Bruining, M, van Maarle, M C, Elting, M W, den Hollander, N S, Hamel, B, Fortuna, A M, Sunde, L, Stolte-Dijkstra, I, Schrander-Stumpel, C T R M & Hofstra, R M W 2010, ' Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis ', Journal of Medical Genetics, vol. 47, no. 3, pp. 169-75 . https://doi.org/10.1136/jmg.2009.071688
Vos, Y J, de Walle, H E K, Bos, K K, Stegeman, J A, ten Berge, A M, Bruining, M, van Maarle, M C, Elting, M W, den Hollander, N S, Hamel, B, Fortuna, A M, Sunde, L E M, Stolte-Dijkstra, I, Schrander-Stumpel, C & Hofstra, R M W 2010, ' Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis ', Journal of Medical Genetics, vol. 47, no. 3, pp. 169-175 . https://doi.org/10.1136/jmg.2009.071688مصطلحات موضوعية: Male, Oncology, EXPRESSION, medicine.medical_specialty, Genetic counseling, DNA Mutational Analysis, Genetic Counseling, Neural Cell Adhesion Molecule L1, Germline mosaicism, Biology, Genomic disorders and inherited multi-system disorders [IGMD 3], Germline mutation, MISSENSE MUTATION, Internal medicine, Genotype, Genetics, medicine, Humans, Missense mutation, L1CAM GENE, PRENATAL-DIAGNOSIS, Child, L1 syndrome, Genetic Association Studies, Germ-Line Mutation, Genetics (clinical), Base Sequence, Mosaicism, Infant, Newborn, Infant, Genetic Diseases, X-Linked, Syndrome, NEPHROGENIC DIABETES-INSIPIDUS, MASA-SYNDROME, Child, Preschool, CELL-ADHESION MOLECULE, Practice Guidelines as Topic, Mutation (genetic algorithm), COMPLICATED SPASTIC PARAPLEGIA, HIRSCHSPRUNGS-DISEASE, Mutation testing, X-LINKED HYDROCEPHALUS, Functional Neurogenomics [DCN 2]
وصف الملف: application/pdf
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المؤلفون: Wytske Boersma-van Ek, Paul O. J. Jager, Jan H. Kleibeuker, Helga Westers, Harry Hollema, Renee C. Niessen, Krista K. Bos, Rolf H. Sijmons, Robert M.W. Hofstra, Dennie Rozeveld
المساهمون: Guided Treatment in Optimal Selected Cancer Patients (GUTS), Targeted Gynaecologic Oncology (TARGON)
المصدر: GENES CHROMOSOMES & CANCER, 48(4), 322-329. Wiley
مصطلحات موضوعية: Cancer Research, Amsterdam criteria, congenital, hereditary, and neonatal diseases and abnormalities, DNA MISMATCH-REPAIR, Colon, MICROSATELLITE INSTABILITY, DNA Mutational Analysis, MUTATION ANALYSIS, HNPCC, Biology, Adenocarcinoma, MLH1, Germline mutation, Genetics, PMS2, medicine, Humans, neoplasms, Germ-Line Mutation, Adaptor Proteins, Signal Transducing, Mismatch Repair Endonuclease PMS2, Adenosine Triphosphatases, IDENTIFICATION, COLON-CANCER, Microsatellite instability, Nuclear Proteins, nutritional and metabolic diseases, NONPOLYPOSIS COLORECTAL-CANCER, DNA Methylation, MSH6, medicine.disease, CARRIERS, Colorectal Neoplasms, Hereditary Nonpolyposis, Immunohistochemistry, GENE, Lynch syndrome, digestive system diseases, DNA-Binding Proteins, DNA Repair Enzymes, MSH2, Colonic Neoplasms, Cancer research, MutL Protein Homolog 1
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المؤلفون: Mieke Kerstjens, Noël Knops, Krista K. Bos, Karin van Dael, Yvonne J. Vos
المساهمون: Faculteit Medische Wetenschappen/UMCG
المصدر: American Journal of Medical Genetics. Part A, 146A(14), 1853-1858. Wiley
مصطلحات موضوعية: Male, ARHGAP4, Receptors, Vasopressin, Diabetes Insipidus, Nephrogenic, CHILDREN, DISEASE, Pregnancy, Arginine vasopressin receptor 2, Global developmental delay, MUTATION, Genetics (clinical), X-chromosome, Genetic Diseases, X-Linked, Syndrome, RECEPTOR GENE, Child, Preschool, Female, INACTIVATION, medicine.symptom, hydrocephalus, hormones, hormone substitutes, and hormone antagonists, L1 syndrome, Adult, medicine.medical_specialty, Molecular Sequence Data, Neural Cell Adhesion Molecule L1, Contiguous gene syndrome, Polyuria, nephrogenic diabetes insipidus, Internal medicine, Genetics, medicine, Humans, AVPR2, DNA Primers, Chromosomes, Human, X, Base Sequence, business.industry, Infant, Nephrogenic diabetes insipidus, medicine.disease, Hydrocephalus, Endocrinology, L1CAM, Diabetes insipidus, CELLS, contiguous gene deletion, business, Gene Deletion
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المؤلفون: Agnes Bronda, Jan Osinga, Krista K. Bos, Bas Twigt, B.G.M. Joke Verheij, Ivan Plaza Menacho, M.W. Robert Hofstra, Saskia M. Maas, Ilja M. Nolte, H.C.M. Charles Buys, Grzegorz M. Burzynski, Alice S. Brooks
المساهمون: Public Health, Pediatric Surgery, Life Course Epidemiology (LCE), Human Genetics, Paediatric Genetics
المصدر: American Journal of Human Genetics, 76(5), 850-858. Cell Press
American Journal of Human Genetics, 76(5), 850-858. CELL PRESS
American journal of human genetics, 76(5), 850-858. Cell Pressمصطلحات موضوعية: EXPRESSION, Genetic Markers, Risk, CARCINOMA, PROMOTER, Molecular Sequence Data, Single-nucleotide polymorphism, Locus (genetics), HAPLOTYPE, Biology, THERAPY, Polymorphism, Single Nucleotide, REGION, Exon, Gene Frequency, Report, Consensus Sequence, Genetics, Animals, Humans, Genetics(clinical), Genetic Predisposition to Disease, TRANSCRIPTION, Hirschsprung Disease, Allele, Genotyping, Gene, Genetics (clinical), Conserved Sequence, Oncogene Proteins, Haplotype, Proto-Oncogene Proteins c-ret, Intron, Genetic Variation, Receptor Protein-Tyrosine Kinases, PROTOONCOGENE, GENE, Haplotypes, Mutation
