-
1Academic Journal
المصدر: Frontiers in Aging Neuroscience ; volume 8 ; ISSN 1663-4365
-
2
المؤلفون: Lukrecija Brecevic, Željka Krsnik, Thomas Liehr, Martina Rincic, Ahmed B. Hamid, Nadezda Kosyakova, Ivan Galić, Fran Borovečki, Goran Sedmak
المصدر: Translational Neuroscience, Vol 6, Iss 1, Pp 59-86 (2015)
Translational Neuroscienceمصطلحات موضوعية: human brain transcriptome, neuronal homeostasis, neurodevelopmental genes, overlapping phenotypes, common fragile site FRA1E, epigenetics, noncoding RNAs, transposons, Tc1/mariner family of transposable elements, bones and dental anomalies, common fragile site fra1e, Neurosciences. Biological psychiatry. Neuropsychiatry, Locus (genetics), Review Article, tc1/mariner family of transposable elements, noncoding rnas, Non-coding RNAs, 03 medical and health sciences, Dihydropyrimidine dehydrogenase deficiency, 0302 clinical medicine, mental disorders, Gene duplication, medicine, Epigenetics, Small supernumerary marker chromosome, 030304 developmental biology, Genetics, 0303 health sciences, General Neuroscience, Microdeletion syndrome, medicine.disease, Autism spectrum disorder, 030220 oncology & carcinogenesis, DPYD, Psychology, RC321-571
-
3
المؤلفون: Lukrecija Brecevic, Roberta Santos Guilherme, Samarth Bhatt, Beate Albrecht, A Polityko, Anna I. Kulpanovich, Marianne Volleth, Michael B. Petersen, E Klein, Emmanouil Manolakos, Thomas Liehr, Ahmed B. Hamid, Nadezda Kosyakova, Andreas Dufke, Susanne Morlot
المصدر: Balkan Journal of Medical Genetics : BJMG
Balkan Journal of Medical Genetics, Vol 16, Iss 1, Pp 13-19 (2013)مصطلحات موضوعية: Infertility, Pathology, medicine.medical_specialty, medicine.diagnostic_test, Ring chromosome, Medizin, High resolution, Signs and symptoms, Genotype-phenotype correlations, QH426-470, Biology, medicine.disease, Fluorescence in situ hybridization (FISH), Turner syndrome, Ring chromosomes, Genetics, medicine, Fish
, Original Article, Clinical significance, Genetics (clinical), Fluorescence in situ hybridization -
4
المؤلفون: Elisabeth Ewers, Kristin Mrasek, Nadezda Kosyakova, Anja Weise, Martina Merkas, Thomas Liehr, Lukrecija Brecevic, Ahmed B. Hamid, Tatyana V. Karamysheva
المصدر: Current Genomics
مصطلحات موضوعية: Genetics, Chromosome number, Screening test, business.industry, Genetic counseling, Karyotype, small supernumerary marker chromosomes (sSMC), Article, mosaic, genotype-phenotype correlation, Somatic mosaicism, Chromosome instability, Centromere, Medicine, Supernumerary, business, Mosaic, Genetics (clinical)
-
5
المساهمون: University of Zurich, Brecevic, Lukrecija, Schinzel, Albert
المصدر: Journal of Medical Genetics. 37:964-967
مصطلحات موضوعية: Hypertrichosis, Proband, Pointed chin, 2716 Genetics (clinical), 10039 Institute of Medical Genetics, tandem triplication, chromosome 13, Birth weight, 610 Medicine & health, Karyotype, Anatomy, Biology, medicine.disease, 1311 Genetics, Genetics, medicine, 570 Life sciences, biology, Tandem exon duplication, Letters to the Editor, Palmar crease, Genetics (clinical), Chromosomal inversion
-
6
المؤلفون: E. Frascella, Lukrecija Brecevic, Patrizia Nanni, Emanuela Dorigo, Beat W. Schäfer, Luisa Toffolatti, Angelo Rosolen, Carla De Giovanni, Elisabetta Lenzini
المصدر: Cancer Genetics and Cytogenetics. 121:139-145
مصطلحات موضوعية: Cancer Research, medicine.medical_specialty, Genes, myc, Gene Expression, Chromosomal translocation, Biology, Translocation, Genetic, Fusion gene, Tumor Cells, Cultured, Genetics, medicine, Humans, Double minute, Rhabdomyosarcoma, neoplasms, Molecular Biology, In Situ Hybridization, Fluorescence, Rhabdomyosarcoma, Alveolar, Homeodomain Proteins, Chromosomes, Human, Pair 13, medicine.diagnostic_test, Forkhead Box Protein O1, Reverse Transcriptase Polymerase Chain Reaction, Gene Amplification, Cytogenetics, PAX7 Transcription Factor, Forkhead Transcription Factors, Karyotype, musculoskeletal system, medicine.disease, Molecular biology, DNA-Binding Proteins, Chromosomes, Human, Pair 1, Karyotyping, Alveolar rhabdomyosarcoma, Transcription Factors, Fluorescence in situ hybridization
-
7
المؤلفون: Thomas Osterwalder, Albert Schinzel, Serguei Kozlov, Andreas J. Bleiker, Philipp Berger, Peter Sonderegger, Lukrecija Brecevic, Sabine P. Schrimpf, Stefan R. Krueger
المصدر: Genomics. 40:55-62
مصطلحات موضوعية: DNA, Complementary, Serine Proteinase Inhibitors, Molecular Sequence Data, In situ hybridization, Serpin, Biology, Neuroserpin, Complementary DNA, Genetics, medicine, Animals, Humans, Tissue Distribution, Amino Acid Sequence, Northern blot, Cloning, Molecular, Familial encephalopathy with neuroserpin inclusion bodies, Peptide sequence, Serpins, Base Sequence, Sequence Homology, Amino Acid, cDNA library, Neuropeptides, Chromosome Mapping, medicine.disease, Molecular biology, Chromosomes, Human, Pair 3
-
8
المؤلفون: Beat Thöny, Claus W. Heizmann, Claudia Kluge, Nenad Blau, Lukrecija Brecevic
المصدر: European Journal of Biochemistry. 240:477-484
مصطلحات موضوعية: Phenylalanine, Molecular Sequence Data, Biology, medicine.disease_cause, Biochemistry, Exon, Complementary DNA, medicine, Humans, Amino Acid Sequence, Cloning, Molecular, Amino Acid Metabolism, Inborn Errors, Gene, Tetrahydrobiopterin deficiency, In Situ Hybridization, Fluorescence, Genetics, Mutation, Base Sequence, Chromosomes, Human, Pair 11, Chromosome Mapping, Chromosome, Exons, medicine.disease, Molecular biology, Introns, Alcohol Oxidoreductases, Alternative Splicing, Blotting, Southern, genomic DNA, Human genome, Phosphorus-Oxygen Lyases, Chromosomes, Human, Pair 9, Sequence Analysis
-
9
المساهمون: University of Zurich, Kosztolányi, G
مصطلحات موضوعية: 2716 Genetics (clinical), Euchromatin, 10039 Institute of Medical Genetics, Ring chromosome, Familial mosaicism, Supernumerary ring chromosome 1, Whole-genome array-CGH, Transgenerational increase in severity, 10-year follow-up, Mitosis, 610 Medicine & health, Biology, 1311 Genetics, Genetics, Humans, Family, Ring Chromosomes, Supernumerary, In Situ Hybridization, Fluorescence, Genetics (clinical), Microdissection, Comparative Genomic Hybridization, Mosaicism, Chromosome, General Medicine, Phenotype, Chromosomes, Human, Pair 1, 570 Life sciences, biology, Chromosome 21, Follow-Up Studies, Comparative genomic hybridization
وصف الملف: Kosztolányi_et_al,_Mosaic_supernumerary_ring.pdf - application/pdf
-
10
المؤلفون: A Polityko, Hasmik Mkrtchyan, Thomas Liehr, Lukrecija Brecevic, Nadezda Kosyakova, Joana B. Melo, Kristin Mrasek
المصدر: Fluorescence In Situ Hybridization (FISH) — Application Guide ISBN: 9783540705802
-
11
المؤلفون: Daniela Reich, Elisabeth Ewers, Ivan Y. Iourov, Nadezda Kosyakova, Hasmik Mkrtchyan, A Polityko, Vladimir A. Trifonov, Thomas Liehr, Kristin Mrasek, Anja Weise, Marina Manvelyan, Lukrecija Brecevic
المصدر: Balkan Journal of Medical Genetics, Vol 10, Iss 1, Pp 33-37 (2007)
مصطلحات موضوعية: Genetics, medicine.medical_specialty, Cytogenetics, cytogenetic(s), Computational biology, Biology, QH426-470, Molecular cytogenetics, small supernumerary marker chromosomes (ssmc), Simple (abstract algebra), medicine, prenatal diagnostics, Supernumerary, metaphase fish, molecular cytogenetics, Genetics (clinical), fluorescence in situ hybridization (fish), small supernumerary marker chromosomes (sSMC), fluorescence in situ hybridization (FISH), metaphase FISH
-
12
المؤلفون: Alessandra Baumer, R H Largo, Lukrecija Brecevic, Albert Schinzel, Fabrizio Dutly, Franz Binkert
المساهمون: University of Zurich, Schinzel, Albert
المصدر: Journal of Medical Genetics. 34:1012-1014
مصطلحات موضوعية: Adult, Male, 2716 Genetics (clinical), genetic structures, 10039 Institute of Medical Genetics, Eye disease, Genital anomalies, 610 Medicine & health, Locus (genetics), DNA, Satellite, Genitalia, Male, Biology, Long arm, Genetic determinism, Indirect evidence, 1311 Genetics, Intellectual Disability, Genetics, medicine, Humans, Eye Abnormalities, Child, Genetics (clinical), Haplotype, Karyotype, Syndrome, Anatomy, medicine.disease, eye diseases, Pedigree, Karyotyping, Rieger eye anomaly, interstitial deletion (4)(q25 -> q27), 570 Life sciences, biology, Chromosomes, Human, Pair 6, Female, sense organs, Chromosomes, Human, Pair 4, Gene Deletion, Research Article
وصف الملف: 1012.full.pdf - application/pdf
-
13
المؤلفون: Nadezda Kosyakova, Heike Starke, Kristin Mrasek, Thomas Liehr, Anja Weise, Susanne Michel, K. Muller, Lukrecija Brecevic
المصدر: Cytogenetic and genome research. 114(3-4)
مصطلحات موضوعية: Genetics, Genetic Markers, Marker chromosome, small supernumerary marker chromosomes (sSMC), multicolor-FISH, microdissection, multicolor banding(MCB), (sub-)cenM-FISH, Chromosome Mapping, Biology, medicine.disease, Molecular biology, Uniparental disomy, Cell Line, Chromosome Banding, Phenotype, Karyotyping, medicine, Fish
, Chromosomes, Human, Humans, Supernumerary, Molecular Biology, Multicolor fish, Immortalised cell line, Genetics (clinical), Microdissection, In Situ Hybridization, Fluorescence -
14
المؤلفون: Anita Heller, Lukrecija Brecevic, Melanie Glaser, Erich Gebhart, Thomas Liehr, Uwe Claussen, Ivan F. Loncarevic
مصطلحات موضوعية: Genetics, Cancer Research, medicine, Biology, Cryptic aberrations, trisomy 8, molecular cytogenetics, FISH, multicolor banding, MCB, myelocytic malignancies, Trisomy 8, medicine.disease, Molecular Biology
-
15
المؤلفون: Dieter Kotzot, Damina Balmer, Albert Schinzel, Benno Röthlisberger, Lukrecija Brecevic, Franz Binkert, Michael Koehler
المساهمون: University of Zurich
المصدر: European journal of human genetics : EJHG. 7(8)
مصطلحات موضوعية: Adult, Male, 2716 Genetics (clinical), spectral karyotyping (SKY™), Derivative chromosome, 10039 Institute of Medical Genetics, Chromosomes, Human, Pair 21, Chromosomal translocation, 610 Medicine & health, Genetic Counseling, Trisomy, Chromosomal rearrangement, Biology, Translocation, Genetic, Partial trisomy 7q, Genomic Imprinting, 1311 Genetics, FISH, medicine, Genetics, Humans, Child, Genetics (clinical), In Situ Hybridization, Fluorescence, Gene Rearrangement, Recombination, Genetic, meiotic recombination, complex chromosomal rearrangement (CCR), Haplotype, Chromosome, Karyotype, spectral karyotyping (SKY (TM)), partial trisomy 6q, partial trisomy 7q, Gene rearrangement, medicine.disease, Partial trisomy 6q, Pedigree, Child, Preschool, Karyotyping, 570 Life sciences, biology, Chromosomes, Human, Pair 6, Chromosomes, Human, Pair 18, Chromosomes, Human, Pair 7, Microsatellite Repeats
وصف الملف: 5200389.pdf - application/pdf
-
16
المساهمون: University of Zurich, Schinzel, Albert
المصدر: ResearcherID
مصطلحات موضوعية: medicine.medical_specialty, Pathology, 2716 Genetics (clinical), Heart malformation, 10039 Institute of Medical Genetics, 610 Medicine & health, Hemizygosity, Biology, Congenital Abnormalities, fluorescent in situ hybridization (FISH), Atrophy, 1311 Genetics, Seizures, Ductus arteriosus, Internal medicine, Age Determination by Skeleton, Intellectual Disability, medicine, Humans, Genetic Testing, In Situ Hybridization, Fluorescence, Genetics (clinical), Autosome, 1p36 deletion syndrome, Karyotype, Syndrome, chromosome deletion 1p, medicine.disease, Subtelomere, Chromosome Banding, Endocrinology, medicine.anatomical_structure, Phenotype, Chromosomes, Human, Pair 1, Child, Preschool, submicroscopic deletion, 570 Life sciences, biology, Female, Chromosome Deletion, Microsatellite Repeats
وصف الملف: American_Journal_of_Medical_Genetics___1999___Riegel___Terminal_deletion__del_1__p36_3___detected_through_screening_for.pdf - application/pdf
-
17
المؤلفون: Krystyna H. Chrzanowska, D. Maziarka, Kazimierz Madaliński, J. Kuś, Lukrecija Brecevic, J. Michalkdewicz, Małgorzata Krajewska-Walasek, JK Wolski
المساهمون: University of Zurich
المصدر: Scopus-Elsevier
مصطلحات موضوعية: Adult, Male, 2716 Genetics (clinical), 10039 Institute of Medical Genetics, Chromosomes, Human, Pair 22, T-Lymphocytes, Kabuki, 610 Medicine & health, chromosome 22q11.2 deletion, Niikawa-Kuroki Syndrome, Biology, Craniofacial Abnormalities, 1311 Genetics, Immunopathology, immunodeficiency, Kabuki syndrome, Niikawa-Kuroki syndrome, medicine, Genetics, Humans, Abnormalities, Multiple, Immunodeficiency, Cells, Cultured, In Situ Hybridization, Fluorescence, Genetics (clinical), Severe combined immunodeficiency, medicine.diagnostic_test, Syndrome, medicine.disease, Virology, Chromosomal region, 570 Life sciences, biology, Severe Combined Immunodeficiency, Chromosome Deletion, Niikawa, Kuroki syndrome, Fluorescence in situ hybridization
وصف الملف: Clinical_Genetics___2008___Chrzanowska___Kabuki__Niikawa_Kuroki__syndrome_associated_with_immunodeficiency.pdf - application/pdf
-
18Academic Journal
المؤلفون: Thomas Liehr, Tatyana Karamysheva, Martina Merkas, Lukrecija Brecevic, Ahmed B. Hamid, Elisabeth Ewers, Kristin Mrasek, Nadezda Kosyakova, Anja Weise
المساهمون: The Pennsylvania State University CiteSeerX Archives
المصدر: ftp://ftp.ncbi.nlm.nih.gov/pub/pmc/9e/6b/Curr_Genomics_2010_Sep_11(6)_432-439.tar.gz
مصطلحات موضوعية: Mosaic, small supernumerary marker chromosomes (sSMC, genotype-phenotype correlation. SMALL SUPERNUMERARY MARKER CHROMO
وصف الملف: application/zip
-
19
المؤلفون: Fabrizio Dutly, Albert Schinzel, Lukrecija Brecevic, Franz Binkert, C P Braegger
المساهمون: University of Zurich, Schinzel, Albert
مصطلحات موضوعية: Microcephaly, 2716 Genetics (clinical), 10039 Institute of Medical Genetics, Chromosomal translocation, 610 Medicine & health, chromosome deletion 4q, Biology, Translocation, Genetic, Anterior fontanelle, Gene mapping, 1311 Genetics, Intellectual Disability, medicine, Genetics, Humans, Abnormalities, Multiple, piebald trait, Genetics (clinical), Prominent occiput, Piebaldism, Karyotype, Anatomy, medicine.disease, Chromosome Banding, Pedigree, medicine.anatomical_structure, 10036 Medical Clinic, Child, Preschool, Bone maturation, unbalanced translocation, 570 Life sciences, biology, Female, Chromosomes, Human, Pair 4, Gene Deletion, Research Article
وصف الملف: 692.full.pdf - application/pdf
-
20
المؤلفون: Dieter Kotzot, Lukrecija Brecevic, F. Bernasconi, Albert Schinzel, Gertrud Bundscherer, Adelheid Höller, Cordula Braun-Quentin, Seher Başaran, Carlo Baccicchetti, Iosif W. Lurie, Rudolph A. Pfeiffer, Claudio Castellan
المساهمون: University of Zurich, Kotzot, Dieter
المصدر: European journal of human genetics : EJHG. 4(3)
مصطلحات موضوعية: Adult, Male, 2716 Genetics (clinical), 10039 Institute of Medical Genetics, Marker chromosome, Isochromosome, 610 Medicine & health, Biology, Genomic Imprinting, Tetrasomy 18p, Meiosis, 1311 Genetics, FISH, Nondisjunction, Genetic, medicine, Genetics, Humans, Allele, Child, Genetics (clinical), Isochromosome 18p, Meiosis II, Fluorescence in situ hybridization, medicine.disease, Pedigree, origin of Meiotic nondisjunction, Nondisjunction, Child, Preschool, 570 Life sciences, biology, Female, Chromosome aberration, Trisomy, Chromosomes, Human, Pair 18, Microsatellite Repeats
وصف الملف: 000472191.pdf - application/pdf