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1
المؤلفون: Peter Itin, Eli Sprecher, Bettina Burger, Ofer Sarig, Karl Heinimann, O. Eytan, Stefan Herms, I. Spoerri
المصدر: Journal of the European Academy of Dermatology and Venereology. 32:e389-e392
مصطلحات موضوعية: Male, 0301 basic medicine, Ubiquitin-Protein Ligases, Dermatology, Frameshift mutation, 03 medical and health sciences, Immune system, Familial pityriasis rubra pilaris, Psoriasis, medicine, Humans, Frameshift Mutation, Regulator gene, business.industry, Intracellular Signaling Peptides and Proteins, Case-control study, Membrane Proteins, medicine.disease, Phenotype, CARD Signaling Adaptor Proteins, 030104 developmental biology, Infectious Diseases, Guanylate Cyclase, Case-Control Studies, Pityriasis Rubra Pilaris, Immunology, Female, business
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المؤلفون: Mohnish Suri, Karl Heinimann, Usha Kini, Aude-Annick Suter, Peter Itin, Sabina Gallati, Pablo Lapunzina, Helen Fryssira, Peter Miny, Mette Sommerlund, Munaza Ahmed, Tazeen Ashraf, Pradeep C. Vasudevan, Signe Vaeth
المساهمون: University of Zurich, Gallati, Sabina
المصدر: Suter, Aude-Annick; Itin, Peter; Heinimann, Karl; Ahmed, Munaza; Ashraf, Tazeen; Fryssira, Helen; Kini, Usha; Lapunzina, Pablo; Miny, Peter; Sommerlund, Mette; Suri, Mohnish; Vaeth, Signe; Vasudevan, Pradeep; Gallati, Sabina (2016). Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene. Molecular genetics & genomic medicine, 4(3), pp. 359-366. Wiley 10.1002/mgg3.209 <http://dx.doi.org/10.1002/mgg3.209>
Molecular Genetics & Genomic Medicine
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Suter, A-A, Itin, P, Heinimann, K, Ahmed, M, Ashraf, T, Fryssira, H, Kini, U, Lapunzina, P, Miny, P, Sommerlund, M, Suri, M, Væth, S, Vasudevan, P & Gallati, S 2016, ' Rothmund-Thomson Syndrome : novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene ', Molecular Genetics & Genomic Medicine, vol. 4, no. 3, pp. 359-366 . https://doi.org/10.1002/mgg3.209مصطلحات موضوعية: 0301 basic medicine, 2716 Genetics (clinical), 10039 Institute of Medical Genetics, POIKILODERMA, PROTEIN, 610 Medicine & health, Poikiloderma, 030105 genetics & heredity, Biology, Bioinformatics, medicine.disease_cause, Rothmund–Thomson Syndrome, 03 medical and health sciences, symbols.namesake, Exon, Genotype-phenotype distinction, 1311 Genetics, MITOCHONDRIA, USB1 (C16orf57) gene, NEUTROPENIA, 1312 Molecular Biology, RECQL4 gene, Genetics, medicine, Molecular Biology, Rothmund–Thomson syndrome, Gene, Genetics (clinical), Sanger sequencing, Mutation, Rothmund-Thomson Syndrome, Original Articles, medicine.disease, 030104 developmental biology, Poikiloderma with neutropenia, OSTEOSARCOMA, symbols, 570 Life sciences, biology, Original Article, Dyskeratosis congenita
وصف الملف: application/pdf; mgg3.209.pdf - application/pdf
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المؤلفون: Luigi Terracciano, Martina Plasilova, Raheela Ashfaq, Karl Heinimann, Friedel Wenzel, Robert H. E. Blatter, Sefik T. Gokaslan
المصدر: Genes, Chromosomes and Cancer. 54:575-582
مصطلحات موضوعية: Cancer Research, Mutation, Juvenile Polyp, Somatic cell, Biology, medicine.disease_cause, medicine.disease, Molecular biology, digestive system diseases, BMPR1A, Loss of heterozygosity, Germline mutation, otorhinolaryngologic diseases, Genetics, medicine, Juvenile polyposis syndrome, Copy-number variation, neoplasms
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4
المؤلفون: Karl Heinimann, Sevgi Tercanli, Ekaterina Nosova, Cheryl Y. Gregory-Evans, William T. Gibson, Peter Miny, Jan M. Friedman, Isabel Filges, Elisabeth Bruder, Judith G. Hall, Wyeth W. Wasserman, Benno Röthlisberger, Katelin N. Townsend
المصدر: Clinical Genetics. 86:220-228
مصطلحات موضوعية: Genetics, 0303 health sciences, Candidate gene, Microcephaly, Massive parallel sequencing, Cilium, Biology, medicine.disease, Phenotype, 3. Good health, 03 medical and health sciences, Ciliopathy, 0302 clinical medicine, Cancer research, medicine, Allele, 030217 neurology & neurosurgery, Genetics (clinical), Exome sequencing, 030304 developmental biology
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المؤلفون: Karl Heinimann, Susanne Timshel, Shirley Hodgson, Noralane M. Lindor, E. B. Gomez Garcia, Pål Møller, Stefan Aretz, Fiona Douglas, Maran J. W. Olderode-Berends, C. M. Kets, Chrystelle Colas, Hans F. A. Vasen, Maureen Murphy-Ryan, Allan D. Spigelman, Frederik J. Hes, Marry H. Nieuwenhuis
المصدر: Colorectal Disease. 14:e562-e566
مصطلحات موضوعية: Oncology, medicine.medical_specialty, education.field_of_study, biology, Colorectal cancer, business.industry, Population, Gastroenterology, Cancer, Multiple hamartoma syndrome, Cowden syndrome, medicine.disease, Internal medicine, medicine, biology.protein, Tensin, PTEN, Gastrointestinal Polyp, education, business
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6
المؤلفون: Katharina Wimmer, Johannes Zschocke, Noemie Staehli, Salvatore Girlando, Ludwine Messiaen, Emanuele Valtorta, Franco Armelao, Giancarlo Marra, Annekatrin Wernstedt, Karl Heinimann, Roberto Togni, Michael Baudis
المصدر: Genes, Chromosomes & Cancer
مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Cancer Research, Pseudogene, Biology, Polymerase Chain Reaction, 03 medical and health sciences, Exon, 0302 clinical medicine, Germline mutation, Genetics, Humans, Multiplex, Multiplex ligation-dependent probe amplification, Allele, Alleles, Research Articles, Aged, Mismatch Repair Endonuclease PMS2, Neoplasm Staging, 030304 developmental biology, Adenosine Triphosphatases, Aged, 80 and over, Recombination, Genetic, 0303 health sciences, Breakpoint, Intron, DNA, Neoplasm, Middle Aged, digestive system diseases, DNA-Binding Proteins, DNA Repair Enzymes, 030220 oncology & carcinogenesis, Mutation, Female, Colorectal Neoplasms, Nucleic Acid Amplification Techniques, Gene Deletion, Pseudogenes
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7
المؤلفون: Peter Miny, Karl Heinimann, Vanessa Klug, Isabel Filges, Friedel Wenzel, Sevgi Tercanli, A. Kang
المصدر: Prenatal Diagnosis. 31:473-478
مصطلحات موضوعية: medicine.medical_specialty, Obstetrics, Obstetrics and Gynecology, Prenatal diagnosis, Biology, stomatognathic diseases, medicine.anatomical_structure, embryonic structures, medicine, Chorionic villi, neoplasms, reproductive and urinary physiology, Genetics (clinical), Comparative genomic hybridization
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المؤلفون: Oliver Bieri, Karl Heinimann, Arne Fischmann, Dirk Fischer, Susanne Fasler, Stephan G. Wetzel, Klaus Scheffler, Tanja Haas, Monika Gloor
المصدر: Journal of Magnetic Resonance Imaging
مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Fat infiltration, Sensitivity and Specificity, Oculopharyngeal muscular dystrophy, Muscular Dystrophy, Oculopharyngeal, Image Interpretation, Computer-Assisted, medicine, Humans, Radiology, Nuclear Medicine and imaging, Muscle, Skeletal, Aged, business.industry, Outcome measures, Reproducibility of Results, Middle Aged, Image Enhancement, medicine.disease, Magnetic Resonance Imaging, Mr imaging, Adipose Tissue, Biomarker (medicine), Female, business, Algorithms
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9
المؤلفون: Michel Bihl, Francesca Molinari, Milo Frattini, Alexander Rufle, Michal Kovac, Karl Heinimann, Luigi Terracciano, Anja Foerster, Priska Erzberger, Inti Zlobec, Alessandro Lugli
المصدر: International Journal of Cancer. 127:2569-2575
مصطلحات موضوعية: Adult, Male, Proto-Oncogene Proteins B-raf, Cancer Research, endocrine system diseases, Colorectal cancer, Biology, medicine.disease_cause, medicine, Humans, Point Mutation, neoplasms, Aged, Aged, 80 and over, Mutation, Point mutation, Cancer, Microsatellite instability, Middle Aged, Prognosis, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, digestive system diseases, Genes, ras, Oncology, Cancer research, Microsatellite, Female, Microsatellite Instability, KRAS, Colorectal Neoplasms, V600E
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المؤلفون: Karl Heinimann, G Moslein, I. J. Christensen, Ian Tomlinson, Steffen Bülow, Anne Lyster Knudsen
المصدر: Colorectal Disease. 12:e243-e249
مصطلحات موضوعية: medicine.medical_specialty, medicine.diagnostic_test, biology, Adenomatous polyposis coli, business.industry, medicine.medical_treatment, Gastroenterology, Colonoscopy, Sigmoidoscopy, medicine.disease, Exon, Attenuated familial adenomatous polyposis, Internal medicine, medicine, biology.protein, Young adult, business, Genetic testing, Colectomy
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