Informacja

Drogi użytkowniku, aplikacja do prawidłowego działania wymaga obsługi JavaScript. Proszę włącz obsługę JavaScript w Twojej przeglądarce.

Przeglądasz jako GOŚĆ

Wyszukujesz frazę ""Comparative Genomic Hybridization"" wg kryterium: Temat


Tytuł :
Implementation of RNA sequencing and array CGH in the diagnostic workflow of the AIEOP-BFM ALL 2017 trial on acute lymphoblastic leukemia.
Autorzy :
Schieck M; Department of Human Genetics, Hannover Medical School, Carl-Neuberg-Str. 1, 30625, Hannover, Germany. .
Lentes J; Department of Human Genetics, Hannover Medical School, Carl-Neuberg-Str. 1, 30625, Hannover, Germany.
Thomay K; Department of Human Genetics, Hannover Medical School, Carl-Neuberg-Str. 1, 30625, Hannover, Germany.
Hofmann W; Department of Human Genetics, Hannover Medical School, Carl-Neuberg-Str. 1, 30625, Hannover, Germany.
Behrens YL; Department of Human Genetics, Hannover Medical School, Carl-Neuberg-Str. 1, 30625, Hannover, Germany.
Hagedorn M; Department of Human Genetics, Hannover Medical School, Carl-Neuberg-Str. 1, 30625, Hannover, Germany.
Ebersold J; Department of Human Genetics, Hannover Medical School, Carl-Neuberg-Str. 1, 30625, Hannover, Germany.
Davenport CF; Research Core Unit Genomics, Hannover Medical School, Hannover, Germany.
Fazio G; Centro Ricerca Tettamanti, Pediatric Clinic, University of Milano-Bicocca, Fondazione MBBM, Monza, Italy.
Möricke A; Department of Pediatrics, University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.
Buchmann S; Department of Pediatrics, University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.
Alten J; Department of Pediatrics, University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.
Cario G; Department of Pediatrics, University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.
Schrappe M; Department of Pediatrics, University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.
Bergmann AK; Department of Human Genetics, Hannover Medical School, Carl-Neuberg-Str. 1, 30625, Hannover, Germany.
Stanulla M; Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany.
Steinemann D; Department of Human Genetics, Hannover Medical School, Carl-Neuberg-Str. 1, 30625, Hannover, Germany.
Schlegelberger B; Department of Human Genetics, Hannover Medical School, Carl-Neuberg-Str. 1, 30625, Hannover, Germany.
Cazzaniga G; Centro Ricerca Tettamanti, Pediatric Clinic, University of Milano-Bicocca, Fondazione MBBM, Monza, Italy.
Göhring G; Department of Human Genetics, Hannover Medical School, Carl-Neuberg-Str. 1, 30625, Hannover, Germany.
Pokaż więcej
Źródło :
Annals of hematology [Ann Hematol] 2020 Apr; Vol. 99 (4), pp. 809-818. Date of Electronic Publication: 2020 Feb 20.
Typ publikacji :
Journal Article
Journal Info :
Publisher: Springer Verlag Country of Publication: Germany NLM ID: 9107334 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-0584 (Electronic) Linking ISSN: 09395555 NLM ISO Abbreviation: Ann. Hematol. Subsets: MEDLINE
MeSH Terms :
Comparative Genomic Hybridization*
Sequence Analysis, RNA*
Precursor Cell Lymphoblastic Leukemia-Lymphoma/*diagnosis
RNA, Messenger/*analysis
RNA, Neoplasm/*analysis
Abnormal Karyotype ; Antineoplastic Combined Chemotherapy Protocols/administration & dosage ; Antineoplastic Combined Chemotherapy Protocols/therapeutic use ; Asparaginase/administration & dosage ; Cyclophosphamide/administration & dosage ; Cytarabine/administration & dosage ; Daunorubicin/administration & dosage ; Genes, Neoplasm ; Humans ; Ikaros Transcription Factor/genetics ; In Situ Hybridization, Fluorescence ; Mercaptopurine/administration & dosage ; Methotrexate/administration & dosage ; Neoplasm Proteins/genetics ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/drug therapy ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/genetics ; Prednisone/administration & dosage ; Prospective Studies ; Risk Factors ; Transcriptome ; Vincristine/administration & dosage ; Workflow
SCR Protocol :
AIEOP acute lymphoblastic leukemia protocol
Czasopismo naukowe
Tytuł :
A Novel Variant Rearrangement of the Rare Aberration dic(17;20)(p11.2;q11.2) Characterized by Array-CGH as an Insertion in a Patient with Myelodysplastic Syndrome of Multilineage Dysplasia (MDS-MLD).
Autorzy :
Vazmitsel MA
Grammatopoulou V
Yao J
Batanian JR
Pokaż więcej
Źródło :
Cytogenetic and genome research [Cytogenet Genome Res] 2020; Vol. 160 (1), pp. 22-28. Date of Electronic Publication: 2020 Feb 05.
Typ publikacji :
Case Reports; Journal Article
Journal Info :
Publisher: S. Karger Country of Publication: Switzerland NLM ID: 101142708 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1424-859X (Electronic) Linking ISSN: 14248581 NLM ISO Abbreviation: Cytogenet. Genome Res. Subsets: MEDLINE
MeSH Terms :
Chromosome Aberrations*
Comparative Genomic Hybridization*
Chromosomes, Human, Pair 17/*genetics
Chromosomes, Human, Pair 20/*genetics
Myelodysplastic Syndromes/*genetics
Cell Lineage ; Centromere/ultrastructure ; Chromosome Banding ; Chromosome Deletion ; Female ; Gene Rearrangement ; Humans ; Karyotyping ; Membrane Proteins/genetics ; Middle Aged ; Potassium Channels, Inwardly Rectifying/genetics ; Translocation, Genetic
Czasopismo naukowe
Tytuł :
[Identification of ATP7B gene variant by combined use of Sanger sequencing, array CGH and quantitative PCR].
Autorzy :
Xu J; Second Department of Pediatrics, Jinhua Hospital, Zhejiang University, Jinhua, Zhejiang 321000, China. ; .
Wang J
Wang K
Xu Y
Geng J
Pokaż więcej
Źródło :
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2019 Dec 10; Vol. 36 (12), pp. 1183-1186.
Typ publikacji :
Journal Article
Journal Info :
Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print) Linking ISSN: 10039406 NLM ISO Abbreviation: Zhonghua Yi Xue Yi Chuan Xue Za Zhi Subsets: MEDLINE
MeSH Terms :
Comparative Genomic Hybridization*
DNA Copy Number Variations*
Copper-Transporting ATPases/*genetics
Hepatolenticular Degeneration/*genetics
DNA Mutational Analysis ; Female ; Heterozygote ; Humans ; Male ; Mutation ; Polymerase Chain Reaction
Czasopismo naukowe
Tytuł :
Prenatal chromosomal microarray testing of fetuses with ultrasound structural anomalies: A prospective cohort study of over 1000 consecutive cases.
Autorzy :
Chong HP; Fetal Medicine Centre, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
Hamilton S; West Midlands Regional Genetics Laboratory and Clinical Genetics Service, Women's and Children's NHS Foundation Trust, Birmingham, UK.
Mone F; Fetal Medicine Centre, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.; West Midlands Regional Genetics Laboratory and Clinical Genetics Service, Women's and Children's NHS Foundation Trust, Birmingham, UK.
Cheung KW; Department of Obstetrics and Gynaecology, Queen Mary Hospital, The University of Hong Kong, Hong Kong.
Togneri FS; West Midlands Regional Genetics Laboratory and Clinical Genetics Service, Women's and Children's NHS Foundation Trust, Birmingham, UK.
Morris RK; Fetal Medicine Centre, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.; Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK.
Quinlan-Jones E; Fetal Medicine Centre, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.; Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK.
Williams D; West Midlands Regional Genetics Laboratory and Clinical Genetics Service, Women's and Children's NHS Foundation Trust, Birmingham, UK.
Allen S; West Midlands Regional Genetics Laboratory and Clinical Genetics Service, Women's and Children's NHS Foundation Trust, Birmingham, UK.
McMullan DJ; West Midlands Regional Genetics Laboratory and Clinical Genetics Service, Women's and Children's NHS Foundation Trust, Birmingham, UK.
Kilby MD; Fetal Medicine Centre, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.; Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK.
Pokaż więcej
Źródło :
Prenatal diagnosis [Prenat Diagn] 2019 Nov; Vol. 39 (12), pp. 1064-1069. Date of Electronic Publication: 2019 Aug 22.
Typ publikacji :
Evaluation Study; Journal Article
Journal Info :
Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat. Diagn. Subsets: MEDLINE
MeSH Terms :
Chromosome Aberrations*/embryology
Comparative Genomic Hybridization*/methods
Fetus/*abnormalities
Fetus/*diagnostic imaging
Prenatal Diagnosis/*methods
Adult ; Aneuploidy ; Cohort Studies ; DNA Copy Number Variations ; Female ; Fetus/metabolism ; Genetic Diseases, Inborn/diagnosis ; Genetic Diseases, Inborn/embryology ; Gestational Age ; Humans ; Karyotyping ; Male ; Predictive Value of Tests ; Pregnancy ; Prospective Studies ; Ultrasonography, Prenatal
Czasopismo naukowe
Tytuł :
A de novo 13q31.3 microduplication encompassing the miR-17 ~ 92 cluster results in features mirroring those associated with Feingold syndrome 2.
Autorzy :
Siavrienė E; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland. Electronic address: .
Preikšaitienė E; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
Maldžienė Ž; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
Mikštienė V; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
Rančelis T; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
Ambrozaitytė L; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
Gueneau L; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.
Reymond A; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.
Kučinskas V; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
Pokaż więcej
Źródło :
Gene [Gene] 2020 Aug 30; Vol. 753, pp. 144816. Date of Electronic Publication: 2020 May 27.
Typ publikacji :
Case Reports; Journal Article
Journal Info :
Publisher: Elsevier/North-Holland Country of Publication: Netherlands NLM ID: 7706761 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-0038 (Electronic) Linking ISSN: 03781119 NLM ISO Abbreviation: Gene Subsets: MEDLINE
MeSH Terms :
Chromosome Disorders/*genetics
Eyelids/*abnormalities
Intellectual Disability/*genetics
Limb Deformities, Congenital/*genetics
MicroRNAs/*genetics
Microcephaly/*genetics
Tracheoesophageal Fistula/*genetics
Adolescent ; Chromosome Deletion ; Chromosomes, Human, Pair 13/genetics ; Comparative Genomic Hybridization/methods ; Developmental Disabilities/genetics ; Dwarfism/genetics ; Female ; Gene Duplication/genetics ; Glypicans/genetics ; Glypicans/metabolism ; Humans ; Phenotype
SCR Disease Name :
13q deletion syndrome; Oculodigitoesophagoduodenal syndrome
Czasopismo naukowe
Tytuł :
Cytogenetics and Cytogenomics Evaluation in Cancer.
Autorzy :
Ribeiro IP; Cytogenetics and Genomics Laboratory, Faculty of Medicine, University of Coimbra, 3004-531 Coimbra, Portugal. .; iCBR-CIMAGO, Center of Investigation on Environment, Genetics and Oncobiology, Faculty of Medicine, University of Coimbra, 3004-531 Coimbra, Portugal. .
Melo JB; Cytogenetics and Genomics Laboratory, Faculty of Medicine, University of Coimbra, 3004-531 Coimbra, Portugal. .; iCBR-CIMAGO, Center of Investigation on Environment, Genetics and Oncobiology, Faculty of Medicine, University of Coimbra, 3004-531 Coimbra, Portugal. .; CNC, IBILI, Group of Aging and Brain Diseases: Advanced Diagnosis and Biomarkers, 3004-531 Coimbra, Portugal. .
Carreira IM; Cytogenetics and Genomics Laboratory, Faculty of Medicine, University of Coimbra, 3004-531 Coimbra, Portugal. .; iCBR-CIMAGO, Center of Investigation on Environment, Genetics and Oncobiology, Faculty of Medicine, University of Coimbra, 3004-531 Coimbra, Portugal. .; CNC, IBILI, Group of Aging and Brain Diseases: Advanced Diagnosis and Biomarkers, 3004-531 Coimbra, Portugal. .
Pokaż więcej
Źródło :
International journal of molecular sciences [Int J Mol Sci] 2019 Sep 23; Vol. 20 (19). Date of Electronic Publication: 2019 Sep 23.
Typ publikacji :
Journal Article; Review
Journal Info :
Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE
MeSH Terms :
Chromosome Aberrations*
Comparative Genomic Hybridization*
High-Throughput Nucleotide Sequencing*
Neoplasms*/diagnosis
Neoplasms*/genetics
Precision Medicine*
Biomarkers, Tumor/*genetics
Humans ; Prognosis
Czasopismo naukowe
Tytuł :
Identification of Virulence-Associated Properties by Comparative Genome Analysis of Streptococcus pneumoniae, S. pseudopneumoniae, S. mitis, Three S. oralis Subspecies, and S. infantis .
Autorzy :
Kilian M; Department of Biomedicine, Aarhus University, Aarhus, Denmark .
Tettelin H; Department of Microbiology and Immunology, Institute for Genome Sciences, University of Maryland School of Medicine, Baltimore, Maryland, USA.
Pokaż więcej
Źródło :
MBio [mBio] 2019 Sep 03; Vol. 10 (5). Date of Electronic Publication: 2019 Sep 03.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: American Society for Microbiology Country of Publication: United States NLM ID: 101519231 Publication Model: Electronic Cited Medium: Internet ISSN: 2150-7511 (Electronic) NLM ISO Abbreviation: mBio Subsets: MEDLINE
MeSH Terms :
Comparative Genomic Hybridization*
Genes, Bacterial/*genetics
Genome, Bacterial/*genetics
Streptococcus/*genetics
Virulence Factors/*genetics
Virulence Factors/*isolation & purification
Biological Evolution ; Endocarditis/microbiology ; Humans ; Streptococcus/classification ; Streptococcus/physiology ; Streptococcus mitis/genetics ; Streptococcus oralis/genetics ; Streptococcus pneumoniae/genetics ; Symbiosis ; Virulence/genetics
SCR Organism :
Streptococcus infantis; Streptococcus pseudopneumoniae
Czasopismo naukowe
Tytuł :
Quantitative PCR evaluation of deletions/duplications identified by array CGH.
Autorzy :
Baldan F; Department of Medicine, University of Udine, Udine, Italy. Electronic address: .
Passon N; Institute of Medical Genetics, Academic Hospital 'Azienda Sanitaria Universitaria Integrata di Udine', Udine, Italy.
Burra S; Department of Medicine, University of Udine, Udine, Italy.
Demori E; Institute of Medical Genetics, Academic Hospital 'Azienda Sanitaria Universitaria Integrata di Udine', Udine, Italy.
Russo PD; Institute of Medical Genetics, Academic Hospital 'Azienda Sanitaria Universitaria Integrata di Udine', Udine, Italy.
Damante G; Department of Medicine, University of Udine, Udine, Italy; Institute of Medical Genetics, Academic Hospital 'Azienda Sanitaria Universitaria Integrata di Udine', Udine, Italy.
Pokaż więcej
Źródło :
Molecular and cellular probes [Mol Cell Probes] 2019 Aug; Vol. 46, pp. 101421. Date of Electronic Publication: 2019 Jul 11.
Typ publikacji :
Journal Article
Journal Info :
Publisher: Academic Press Country of Publication: England NLM ID: 8709751 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-1194 (Electronic) Linking ISSN: 08908508 NLM ISO Abbreviation: Mol. Cell. Probes Subsets: MEDLINE
MeSH Terms :
Chromosome Aberrations*
Comparative Genomic Hybridization*
Real-Time Polymerase Chain Reaction*
Genome, Human/*genetics
Female ; Genomics ; Humans ; Male ; Sequence Deletion
Czasopismo naukowe
Tytuł :
Array-CGH increased the diagnostic rate of developmental delay or intellectual disability in Taiwan.
Autorzy :
Lee CL; Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan.
Lee CH; Department of Pediatrics, E-DA Hospital, I-Shou University, Kaohsiung City, Taiwan.
Chuang CK; Medical Research, Mackay Memorial Hospital, Taipei, Taiwan.
Chiu HC; Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan.
Chen YJ; Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan.
Chou CL; Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan.
Wu PS; Gene Biodesign Co. Ltd., Taipei, Taiwan.
Chen CP; Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Departments of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan; Department of Biotechnology, Asia University, Taichung, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan.
Lin HY; Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan; Department of Medicine, Mackay Medical College, New Taipei City 25245, Taiwan; Division of Genetics and Metabolism, Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, China Medical University Hospital, China Medical University, Taichung, Taiwan; Mackay Junior College of Medicine, Nursing and Management, Taipei, Taiwan. Electronic address: .
Lin SP; Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan; Department of Medicine, Mackay Medical College, New Taipei City 25245, Taiwan; Division of Genetics and Metabolism, Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Infant and Child Care, National Taipei University of Nursing and Health Sciences, Taipei, Taiwan. Electronic address: .
Pokaż więcej
Źródło :
Pediatrics and neonatology [Pediatr Neonatol] 2019 Aug; Vol. 60 (4), pp. 453-460. Date of Electronic Publication: 2018 Nov 27.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: Elsevier Country of Publication: Singapore NLM ID: 101484755 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2212-1692 (Electronic) Linking ISSN: 18759572 NLM ISO Abbreviation: Pediatr Neonatol Subsets: MEDLINE
MeSH Terms :
Comparative Genomic Hybridization*
Chromosome Disorders/*diagnosis
DNA Copy Number Variations/*genetics
Developmental Disabilities/*genetics
Intellectual Disability/*genetics
Adolescent ; Adult ; Child ; Child, Preschool ; Chromosome Aberrations ; Chromosome Disorders/genetics ; Female ; Genetic Testing ; Humans ; Infant ; Karyotyping ; Male ; Middle Aged ; Taiwan ; Young Adult
Czasopismo naukowe
Tytuł :
Tumor Molecular Profiling: Pediatric Results of the ProfiLER Study.
Autorzy :
Benezech, Sarah (AUTHOR)
Saintigny, Pierre (AUTHOR)
Attignon, Valery (AUTHOR)
Pissaloux, Daniel (AUTHOR)
Paindavoine, Sandrine (AUTHOR)
Faure-Conter, Cécile (AUTHOR)
Corradini, Nadège (AUTHOR)
Marec-Berard, Perrine (AUTHOR)
Bergeron, Christophe (AUTHOR)
Cassier, Philippe (AUTHOR)
Eberst, Lauriane (AUTHOR)
Dufresne, Armelle (AUTHOR)
Wang, Qing (AUTHOR)
Agrapart, Vincent (AUTHOR)
De La Fouchardière, Arnaud (AUTHOR)
Perol, David (AUTHOR)
Garin, Gwenaëlle (AUTHOR)
Corset, Véronique (AUTHOR)
Ben Abdesselem, Leila (AUTHOR)
Chabaud, Sylvie (AUTHOR)
Pokaż więcej
Źródło :
JCO Precision Oncology. 6/30/2020, Vol. 4, p785-795. 11p.
Czasopismo naukowe
Tytuł :
Upper aerodigestive tract carcinoma: Development of a (epi)genomic predictive model for recurrence and metastasis.
Autorzy :
Ribeiro, Ilda Patrícia (AUTHOR)
Caramelo, Francisco (AUTHOR)
Ribeiro, Margarida (AUTHOR)
Machado, Ana (AUTHOR)
Miguéis, Jorge (AUTHOR)
Marques, Francisco (AUTHOR)
Carreira, Isabel Marques (AUTHOR)
Melo, Joana Barbosa (AUTHOR)
Pokaż więcej
Źródło :
Oncology Letters. May2020, Vol. 19 Issue 5, p3459-3468. 10p.
Czasopismo naukowe
Tytuł :
The clinical benefit of array-based comparative genomic hybridization for detection of copy number variants in Czech children with intellectual disability and developmental delay.
Autorzy :
Wayhelova M; Institute of Experimental Biology, Faculty of Science, Masaryk University, Kotlarska 267/2, Brno, Czech Republic. .; Department of Medical Genetics, University Hospital Brno, Cernopolni 212/9, Brno, Czech Republic. .
Smetana J; Institute of Experimental Biology, Faculty of Science, Masaryk University, Kotlarska 267/2, Brno, Czech Republic.; Department of Medical Genetics, University Hospital Brno, Cernopolni 212/9, Brno, Czech Republic.
Vallova V; Institute of Experimental Biology, Faculty of Science, Masaryk University, Kotlarska 267/2, Brno, Czech Republic.; Department of Medical Genetics, University Hospital Brno, Cernopolni 212/9, Brno, Czech Republic.
Hladilkova E; Department of Medical Genetics, University Hospital Brno, Cernopolni 212/9, Brno, Czech Republic.
Filkova H; Department of Medical Genetics, University Hospital Brno, Cernopolni 212/9, Brno, Czech Republic.
Hanakova M; Department of Medical Genetics, University Hospital Brno, Cernopolni 212/9, Brno, Czech Republic.
Vilemova M; Department of Medical Genetics, University Hospital Brno, Cernopolni 212/9, Brno, Czech Republic.
Nikolova P; Department of Medical Genetics, University Hospital Brno, Cernopolni 212/9, Brno, Czech Republic.
Gromesova B; Department of Medical Genetics, University Hospital Brno, Cernopolni 212/9, Brno, Czech Republic.
Gaillyova R; Department of Medical Genetics, University Hospital Brno, Cernopolni 212/9, Brno, Czech Republic.
Kuglik P; Institute of Experimental Biology, Faculty of Science, Masaryk University, Kotlarska 267/2, Brno, Czech Republic.; Department of Medical Genetics, University Hospital Brno, Cernopolni 212/9, Brno, Czech Republic.
Pokaż więcej
Źródło :
BMC medical genomics [BMC Med Genomics] 2019 Jul 23; Vol. 12 (1), pp. 111. Date of Electronic Publication: 2019 Jul 23.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794 (Electronic) Linking ISSN: 17558794 NLM ISO Abbreviation: BMC Med Genomics Subsets: MEDLINE
MeSH Terms :
Comparative Genomic Hybridization*
DNA Copy Number Variations*
Oligonucleotide Array Sequence Analysis*
Developmental Disabilities/*genetics
Intellectual Disability/*genetics
Adolescent ; Child ; Child, Preschool ; Cohort Studies ; Czech Republic ; Female ; Humans ; Infant ; Infant, Newborn ; Male
Czasopismo naukowe
Tytuł :
History of radiation genetics: light and darkness.
Autorzy :
Nakamura N; a Department of Molecular Biosciences , RERF , Hiroshima , Japan.
Pokaż więcej
Źródło :
International journal of radiation biology [Int J Radiat Biol] 2019 Jul; Vol. 95 (7), pp. 999-1014. Date of Electronic Publication: 2019 Feb 20.
Typ publikacji :
Historical Article; Journal Article; Review
Journal Info :
Publisher: Taylor & Francis Country of Publication: England NLM ID: 8809243 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1362-3095 (Electronic) Linking ISSN: 09553002 NLM ISO Abbreviation: Int. J. Radiat. Biol. Subsets: MEDLINE; Space Life Sciences
MeSH Terms :
Comparative Genomic Hybridization*
Radiation Injuries/*genetics
Radiation Injuries/*history
Animals ; Chromosome Aberrations/radiation effects ; DNA Repair ; Gene Deletion ; Genome, Human ; Germ Cells ; Germ-Line Mutation ; Haploidy ; Heterozygote ; History, 20th Century ; History, 21st Century ; Humans ; Mice ; Oligonucleotide Array Sequence Analysis ; Oocytes/radiation effects ; Phenotype ; Radioactive Hazard Release ; Risk
Czasopismo naukowe
Tytuł :
Neurodevelopmental Disorders and Array-Based Comparative Genomic Hybridization: Sensitivity and Specificity using a Criteria Checklist for Genetic Test Performance.
Autorzy :
Amado-Puentes A; Department of Pediatrics, Child Neurology Unit, Álvaro Cunqueiro Hospital, Vigo, Pontevedra, Spain.
Reparaz-Andrade A; Department of Clinical Analysis, Cytogenetics Unit, Álvaro Cunqueiro Hospital, Vigo, Pontevedra, Spain.
Del Campo-García A; Department of Pediatrics, Child Neurology Unit, Álvaro Cunqueiro Hospital, Vigo, Pontevedra, Spain.
Blanco-Barca MÓ; Department of Pediatrics, Child Neurology Unit, Álvaro Cunqueiro Hospital, Vigo, Pontevedra, Spain.
Salgado-Barreira Á; Methodology and Statistics Unit, Galicia Sur Health Research Institute (IIS Galicia Sur), Vigo, Pontevedra, Spain.
Del Campo-Pérez V; Department of Preventive Medicine and Public Health, Álvaro Cunqueiro Hospital, Vigo, Pontevedra, Spain.
Fernández-Lorenzo JR; Department of Pediatrics, Álvaro Cunqueiro Hospital, Vigo, Pontevedra, Spain.
Pokaż więcej
Źródło :
Neuropediatrics [Neuropediatrics] 2019 Jun; Vol. 50 (3), pp. 164-169. Date of Electronic Publication: 2019 Apr 02.
Typ publikacji :
Journal Article
Journal Info :
Publisher: Hippokrates Verlag Country of Publication: Germany NLM ID: 8101187 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1439-1899 (Electronic) Linking ISSN: 0174304X NLM ISO Abbreviation: Neuropediatrics Subsets: MEDLINE
MeSH Terms :
Checklist/*methods
Comparative Genomic Hybridization/*methods
Genetic Testing/*methods
Neurodevelopmental Disorders/*genetics
Whole Exome Sequencing/*methods
Checklist/standards ; Child ; Child, Preschool ; Comparative Genomic Hybridization/standards ; Cross-Sectional Studies ; Female ; Genetic Testing/standards ; Humans ; Male ; Neurodevelopmental Disorders/diagnosis ; Reproducibility of Results ; Whole Exome Sequencing/standards
Czasopismo naukowe
Tytuł :
Molecular testing of borderline cutaneous melanocytic lesions: SNP array is more sensitive and specific than FISH.
Autorzy :
Carter MD; Department of Pathology, Michigan Medicine, University of Michigan, Ann Arbor, MI, USA 48109-5602. Electronic address: .
Durham AB; Department of Dermatology, Michigan Medicine, University of Michigan, Ann Arbor, MI, USA 48109-5602. Electronic address: .
Miedema JR; Department of Pathology, Michigan Medicine, University of Michigan, Ann Arbor, MI, USA 48109-5602. Electronic address: .
Harms PW; Department of Pathology, Michigan Medicine, University of Michigan, Ann Arbor, MI, USA 48109-5602; Department of Dermatology, Michigan Medicine, University of Michigan, Ann Arbor, MI, USA 48109-5602. Electronic address: .
Chan MP; Department of Pathology, Michigan Medicine, University of Michigan, Ann Arbor, MI, USA 48109-5602; Department of Dermatology, Michigan Medicine, University of Michigan, Ann Arbor, MI, USA 48109-5602. Electronic address: .
Patel RM; Department of Pathology, Michigan Medicine, University of Michigan, Ann Arbor, MI, USA 48109-5602; Department of Dermatology, Michigan Medicine, University of Michigan, Ann Arbor, MI, USA 48109-5602. Electronic address: .
Lowe L; Department of Pathology, Michigan Medicine, University of Michigan, Ann Arbor, MI, USA 48109-5602; Department of Dermatology, Michigan Medicine, University of Michigan, Ann Arbor, MI, USA 48109-5602. Electronic address: .
Fullen DR; Department of Pathology, Michigan Medicine, University of Michigan, Ann Arbor, MI, USA 48109-5602; Department of Dermatology, Michigan Medicine, University of Michigan, Ann Arbor, MI, USA 48109-5602. Electronic address: .
Hristov AC; Department of Pathology, Michigan Medicine, University of Michigan, Ann Arbor, MI, USA 48109-5602; Department of Dermatology, Michigan Medicine, University of Michigan, Ann Arbor, MI, USA 48109-5602. Electronic address: .
Wang M; Department of Pathology, Michigan Medicine, University of Michigan, Ann Arbor, MI, USA 48109-5602. Electronic address: .
Andea AA; Department of Pathology, Michigan Medicine, University of Michigan, Ann Arbor, MI, USA 48109-5602; Department of Dermatology, Michigan Medicine, University of Michigan, Ann Arbor, MI, USA 48109-5602. Electronic address: .
Pokaż więcej
Źródło :
Human pathology [Hum Pathol] 2019 Apr; Vol. 86, pp. 115-123. Date of Electronic Publication: 2018 Dec 18.
Typ publikacji :
Journal Article
Journal Info :
Publisher: W B Saunders Country of Publication: United States NLM ID: 9421547 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-8392 (Electronic) Linking ISSN: 00468177 NLM ISO Abbreviation: Hum. Pathol. Subsets: MEDLINE
MeSH Terms :
Comparative Genomic Hybridization*
DNA Copy Number Variations*
In Situ Hybridization, Fluorescence*
Melanoma/*diagnosis
Nevus/*diagnosis
Skin Neoplasms/*diagnosis
Adult ; Female ; Humans ; Male ; Melanoma/genetics ; Melanoma/pathology ; Middle Aged ; Nevus/genetics ; Nevus/pathology ; Polymorphism, Single Nucleotide ; Sensitivity and Specificity ; Skin Neoplasms/genetics ; Skin Neoplasms/pathology ; Young Adult
Czasopismo naukowe
Tytuł :
CGH array for the identification of a compound heterozygous mutation in the CYP1B1 gene in a patient with bilateral anterior segment dysgenesis.
Autorzy :
Lombardo B; Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università di Napoli 'Federico II', Naples, Italy.; CEINGE-Biotecnologie Avanzate Scarl, Naples, Italy.
Ceglia C; CEINGE-Biotecnologie Avanzate Scarl, Naples, Italy.
Verdesca F; Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università di Napoli 'Federico II', Naples, Italy.; CEINGE-Biotecnologie Avanzate Scarl, Naples, Italy.
Vitale A; CEINGE-Biotecnologie Avanzate Scarl, Naples, Italy.; Dipartimento di Scienze Motorie e del Benessere, Università di Napoli 'Parthenope', Naples, Italy.
Perrotta C; Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università di Napoli 'Federico II', Naples, Italy.; CEINGE-Biotecnologie Avanzate Scarl, Naples, Italy.
Leggiero E; CEINGE-Biotecnologie Avanzate Scarl, Naples, Italy.
Pastore L; Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università di Napoli 'Federico II', Naples, Italy.; CEINGE-Biotecnologie Avanzate Scarl, Naples, Italy.
Pokaż więcej
Źródło :
Clinical chemistry and laboratory medicine [Clin Chem Lab Med] 2019 Mar 26; Vol. 57 (4), pp. e63-e66.
Typ publikacji :
Letter
Journal Info :
Publisher: Walter De Gruyter Country of Publication: Germany NLM ID: 9806306 Publication Model: Print Cited Medium: Internet ISSN: 1437-4331 (Electronic) Linking ISSN: 14346621 NLM ISO Abbreviation: Clin. Chem. Lab. Med. Subsets: MEDLINE
MeSH Terms :
Anterior Eye Segment*
Comparative Genomic Hybridization*
Cytochrome P-450 CYP1B1/*genetics
Cytochrome P-450 CYP1B1/deficiency ; Heterozygote ; Humans ; Mutation
Opinia redakcyjna

Ta witryna wykorzystuje pliki cookies do przechowywania informacji na Twoim komputerze. Pliki cookies stosujemy w celu świadczenia usług na najwyższym poziomie, w tym w sposób dostosowany do indywidualnych potrzeb. Korzystanie z witryny bez zmiany ustawień dotyczących cookies oznacza, że będą one zamieszczane w Twoim komputerze. W każdym momencie możesz dokonać zmiany ustawień dotyczących cookies