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You search for a phrase ""Comparative Genomic Hybridization"" according to the criterion: Subject Terms


Title :
Implementation of RNA sequencing and array CGH in the diagnostic workflow of the AIEOP-BFM ALL 2017 trial on acute lymphoblastic leukemia.
Authors :
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.
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Source :
Annals of hematology [Ann Hematol] 2020 Apr; Vol. 99 (4), pp. 809-818. Date of Electronic Publication: 2020 Feb 20.
Publication Type :
Journal Article
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
Academic Journal
Title :
Comparative genomic analysis of Streptococcus dysgalactiae subspecies dysgalactiae, an occasional cause of zoonotic infection.
Authors :
Koh TH; Department of Microbiology, Singapore General Hospital, Singapore. Electronic address: .
Binte Abdul Rahman N; Department of Microbiology, Singapore General Hospital, Singapore.
Sessions OM; Duke-NUS Medical School, Singapore.
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Source :
Pathology [Pathology] 2020 Feb; Vol. 52 (2), pp. 262-266. Date of Electronic Publication: 2019 Dec 16.
Publication Type :
Journal Article
MeSH Terms :
Comparative Genomic Hybridization*
Streptococcal Infections/*microbiology
Streptococcus/*genetics
Zoonoses/*microbiology
Animals ; Humans
SCR Organism :
Streptococcus dysgalactiae subsp. dysgalactiae
Academic Journal
Title :
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).
Authors :
Vazmitsel MA
Grammatopoulou V
Yao J
Batanian JR
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Source :
Cytogenetic and genome research [Cytogenet Genome Res] 2020; Vol. 160 (1), pp. 22-28. Date of Electronic Publication: 2020 Feb 05.
Publication Type :
Case Reports; Journal Article
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
Academic Journal
Title :
Complex chromosomal rearrangements of human chromosome 21 in a patient manifesting clinical features partially overlapped with that of Down syndrome.
Authors :
Imaizumi T; Institute of Medical Genetics, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku-ward, Tokyo, 162-8666, Japan.; Department of Pediatrics, St. Marianna University School of Medicine, Kawasaki, Japan.
Yamamoto-Shimojima K; Institute of Medical Genetics, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku-ward, Tokyo, 162-8666, Japan.; Japan Society for the Promotion of Science (RPD), Tokyo, Japan.; Department of Transfusion Medicine and Cell Processing, Tokyo Women's Medical University, Tokyo, Japan.; Tokyo Women's Medical University Institute for Integrated Medical Sciences, Tokyo, Japan.
Yanagishita T; Institute of Medical Genetics, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku-ward, Tokyo, 162-8666, Japan.; Department of Pediatrics, Tokyo Women's Medical University, Tokyo, Japan.
Ondo Y; Institute of Medical Genetics, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku-ward, Tokyo, 162-8666, Japan.
Nishi E; Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan.
Okamoto N; Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan.
Yamamoto T; Institute of Medical Genetics, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku-ward, Tokyo, 162-8666, Japan. .; Department of Pediatrics, St. Marianna University School of Medicine, Kawasaki, Japan. .; Tokyo Women's Medical University Institute for Integrated Medical Sciences, Tokyo, Japan. .; Department of Pediatrics, Tokyo Women's Medical University, Tokyo, Japan. .
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Source :
Human genetics [Hum Genet] 2020 Dec; Vol. 139 (12), pp. 1555-1563. Date of Electronic Publication: 2020 Jun 13.
Publication Type :
Case Reports; Journal Article
MeSH Terms :
Chromosomes, Human/*genetics
Chromosomes, Human, Pair 21/*genetics
Down Syndrome/*genetics
Adaptor Proteins, Vesicular Transport/genetics ; Chromosome Aberrations ; Comparative Genomic Hybridization/methods ; Core Binding Factor Alpha 2 Subunit/genetics ; DNA-Binding Proteins/genetics ; Down Syndrome/physiopathology ; Female ; Gene Dosage/genetics ; Genetic Association Studies ; Humans ; In Situ Hybridization, Fluorescence/methods ; Infant ; Microarray Analysis/methods ; Minor Histocompatibility Antigens/genetics ; Muscle Proteins/genetics ; Superoxide Dismutase-1/genetics ; Whole Genome Sequencing
SCR Disease Name :
Down Syndrome Critical Region
Academic Journal
Title :
Novel insights into the mixed germ cell-sex cord stromal tumor of the testis: detection of chromosomal aneuploidy and further morphological evidence supporting the neoplastic nature of the germ cell component.
Authors :
Michalova K; Department of Pathology, Faculty of Medicine in Pilsen, Charles University, Pilsen, Czech Republic. .
McKenney JK; Department of Pathology, Cleveland Clinic, Robert J. Tomsich Pathology & Laboratory Medicine Institute, Cleveland, OH, USA.
Kristiansen G; Department of Pathology, Universitätsklinikum Bonn, 53127, Bonn, Germany.
Steiner P; Bioptical laboratory, Ltd., 301 00, Pilsen, Czech Republic.
Grossmann P; Bioptical laboratory, Ltd., 301 00, Pilsen, Czech Republic.
Putzova M; Bioptical laboratory, Ltd., 301 00, Pilsen, Czech Republic.
Martinek P; Bioptical laboratory, Ltd., 301 00, Pilsen, Czech Republic.
Chottova-Dvorakova M; Department of Physiology, Faculty of Medicine in Pilsen, Charles University, Pilsen, Czech Republic.
Michal M; Department of Pathology, Faculty of Medicine in Pilsen, Charles University, Pilsen, Czech Republic.; Biomedical Center, Faculty of Medicine in Pilsen, Charles University, 323 00, Pilsen, Czech Republic.
Hes O; Department of Pathology, Faculty of Medicine in Pilsen, Charles University, Pilsen, Czech Republic.
Michal M; Department of Pathology, Faculty of Medicine in Pilsen, Charles University, Pilsen, Czech Republic.
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Source :
Virchows Archiv : an international journal of pathology [Virchows Arch] 2020 Nov; Vol. 477 (5), pp. 615-623. Date of Electronic Publication: 2020 May 23.
Publication Type :
Journal Article
MeSH Terms :
Aneuploidy*
Chromosomes, Human*
Biomarkers, Tumor/*genetics
Neoplasms, Germ Cell and Embryonal/*genetics
Neoplasms, Germ Cell and Embryonal/*pathology
Sex Cord-Gonadal Stromal Tumors/*genetics
Sex Cord-Gonadal Stromal Tumors/*pathology
Testicular Neoplasms/*genetics
Testicular Neoplasms/*pathology
Adult ; Aged ; Biomarkers, Tumor/analysis ; Biopsy ; Comparative Genomic Hybridization ; Genetic Predisposition to Disease ; High-Throughput Nucleotide Sequencing ; Humans ; Immunohistochemistry ; Male ; Middle Aged ; Neoplasms, Germ Cell and Embryonal/chemistry ; Phenotype ; Sex Cord-Gonadal Stromal Tumors/chemistry ; Testicular Neoplasms/chemistry
Academic Journal
Title :
Identification of a cryptic submicroscopic deletion using a combination of fluorescence in situ hybridization and array comparative genomic hybridization in a t(3;5)(q25;q35)-positive acute myeloid leukemia patient: A case report and review of the literature.
Authors :
Gao M; Department of Pediatrics, the First Hospital of Jilin University, Changchun City, Jilin.
Li S; Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma.
Wang L; Department of Pediatrics, the First Hospital of Jilin University, Changchun City, Jilin.
Nie S; Department of Pediatrics, the First Hospital of Jilin University, Changchun City, Jilin.
Pang H; Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma.
Lu X; Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma.
Wang X; Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma.
Wang M; Department of Radiotherapy, Public Health School of Jilin University, Changchun City, Jilin, P.R. China.
Guo S; Department of Pediatrics, the First Hospital of Jilin University, Changchun City, Jilin.
Ma Y; Department of Pediatrics, the First Hospital of Jilin University, Changchun City, Jilin.
Meng F; Department of Pediatrics, the First Hospital of Jilin University, Changchun City, Jilin.
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Source :
Medicine [Medicine (Baltimore)] 2020 Oct 23; Vol. 99 (43), pp. e22789.
Publication Type :
Case Reports; Journal Article
MeSH Terms :
Leukemia, Myeloid, Acute/*genetics
Antineoplastic Combined Chemotherapy Protocols/therapeutic use ; Chromosome Banding ; Comparative Genomic Hybridization ; Humans ; In Situ Hybridization, Fluorescence ; Leukemia, Myeloid, Acute/drug therapy ; Male ; Middle Aged
Academic Journal
Title :
[Identification of ATP7B gene variant by combined use of Sanger sequencing, array CGH and quantitative PCR].
Authors :
Xu J; Second Department of Pediatrics, Jinhua Hospital, Zhejiang University, Jinhua, Zhejiang 321000, China. ; .
Wang J
Wang K
Xu Y
Geng J
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Source :
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.
Publication Type :
Journal Article
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
Academic Journal
Title :
Prenatal chromosomal microarray testing of fetuses with ultrasound structural anomalies: A prospective cohort study of over 1000 consecutive cases.
Authors :
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.
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Source :
Prenatal diagnosis [Prenat Diagn] 2019 Nov; Vol. 39 (12), pp. 1064-1069. Date of Electronic Publication: 2019 Aug 22.
Publication Type :
Evaluation Study; Journal Article
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
Academic Journal
Title :
Cytogenetics and Cytogenomics Evaluation in Cancer.
Authors :
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. .
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Source :
International journal of molecular sciences [Int J Mol Sci] 2019 Sep 23; Vol. 20 (19). Date of Electronic Publication: 2019 Sep 23.
Publication Type :
Journal Article; Review
MeSH Terms :
Chromosome Aberrations*
Comparative Genomic Hybridization*
High-Throughput Nucleotide Sequencing*
Neoplasms*/diagnosis
Neoplasms*/genetics
Precision Medicine*
Biomarkers, Tumor/*genetics
Humans ; Prognosis
Academic Journal
Title :
Identification of Virulence-Associated Properties by Comparative Genome Analysis of Streptococcus pneumoniae, S. pseudopneumoniae, S. mitis, Three S. oralis Subspecies, and S. infantis .
Authors :
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.
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Source :
MBio [mBio] 2019 Sep 03; Vol. 10 (5). Date of Electronic Publication: 2019 Sep 03.
Publication Type :
Journal Article; Research Support, Non-U.S. Gov't
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
Academic Journal
Title :
Quantitative PCR evaluation of deletions/duplications identified by array CGH.
Authors :
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.
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Source :
Molecular and cellular probes [Mol Cell Probes] 2019 Aug; Vol. 46, pp. 101421. Date of Electronic Publication: 2019 Jul 11.
Publication Type :
Journal Article
MeSH Terms :
Chromosome Aberrations*
Comparative Genomic Hybridization*
Real-Time Polymerase Chain Reaction*
Genome, Human/*genetics
Female ; Genomics ; Humans ; Male ; Sequence Deletion
Academic Journal
Title :
Array-CGH increased the diagnostic rate of developmental delay or intellectual disability in Taiwan.
Authors :
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: .
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Source :
Pediatrics and neonatology [Pediatr Neonatol] 2019 Aug; Vol. 60 (4), pp. 453-460. Date of Electronic Publication: 2018 Nov 27.
Publication Type :
Journal Article; Research Support, Non-U.S. Gov't
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
Academic Journal
Title :
The clinical benefit of array-based comparative genomic hybridization for detection of copy number variants in Czech children with intellectual disability and developmental delay.
Authors :
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.
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Source :
BMC medical genomics [BMC Med Genomics] 2019 Jul 23; Vol. 12 (1), pp. 111. Date of Electronic Publication: 2019 Jul 23.
Publication Type :
Journal Article; Research Support, Non-U.S. Gov't
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
Academic Journal
Title :
History of radiation genetics: light and darkness.
Authors :
Nakamura N; a Department of Molecular Biosciences , RERF , Hiroshima , Japan.
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Source :
International journal of radiation biology [Int J Radiat Biol] 2019 Jul; Vol. 95 (7), pp. 999-1014. Date of Electronic Publication: 2019 Feb 20.
Publication Type :
Historical Article; Journal Article; Review
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
Academic Journal
Title :
Molecular testing of borderline cutaneous melanocytic lesions: SNP array is more sensitive and specific than FISH.
Authors :
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: .
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Source :
Human pathology [Hum Pathol] 2019 Apr; Vol. 86, pp. 115-123. Date of Electronic Publication: 2018 Dec 18.
Publication Type :
Journal Article
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
Academic Journal
Title :
[Analysis of chromosomal mosaicism in good quality cleavage embryos].
Authors :
Shi Q; The Third Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi 530031, China. .
Xu C
Qiu Y
Li C
Yang H
Li N
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Source :
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] 2020 Sep 10; Vol. 37 (9), pp. 934-937.
Publication Type :
Journal Article
MeSH Terms :
Genetic Testing*
Mosaicism*
Preimplantation Diagnosis*
Single-Cell Analysis*
Aneuploidy ; Blastomeres ; Comparative Genomic Hybridization ; Female ; Fertilization in Vitro ; Humans ; Pregnancy
Academic Journal
Title :
[A genetic case study of neurofibromatosis type 1-microdeletion syndrome caused by atypical 17q11.2 microdeletion].
Authors :
Yang S; Department of Neurology, Huashan Hospital Affiliated to Fudan University, Shanghai 200040, China. .
Jiao Y
Han X
Chen Y
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Source :
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] 2020 Sep 10; Vol. 37 (9), pp. 976-979.
Publication Type :
Journal Article
MeSH Terms :
Chromosome Deletion*
Neurofibromatosis 1*/genetics
Chromosome Banding ; Chromosomes, Human, Pair 17 ; Comparative Genomic Hybridization ; Humans ; Karyotyping ; Whole Exome Sequencing
Academic Journal

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