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


Tytuł :
Improving high-resolution copy number variation analysis from next generation sequencing using unique molecular identifiers.
Autorzy :
Viailly PJ; INSERM U1245, Team Genomics and Biomarkers of Lymphoma and Solid Tumors, Normandie Univ, UNIROUEN, Rouen, France. .; Centre Henri Becquerel, Rouen, France. .
Sater V; INSERM U1245, Team Genomics and Biomarkers of Lymphoma and Solid Tumors, Normandie Univ, UNIROUEN, Rouen, France.; Centre Henri Becquerel, Rouen, France.; LITIS EA 4108, Normandie Univ, UNIROUEN, Rouen, France.
Viennot M; INSERM U1245, Team Genomics and Biomarkers of Lymphoma and Solid Tumors, Normandie Univ, UNIROUEN, Rouen, France.; Centre Henri Becquerel, Rouen, France.
Bohers E; INSERM U1245, Team Genomics and Biomarkers of Lymphoma and Solid Tumors, Normandie Univ, UNIROUEN, Rouen, France.; Centre Henri Becquerel, Rouen, France.
Vergne N; LMRS UMRS 6085, Normandie Univ, UNIROUEN, Rouen, France.
Berard C; LITIS EA 4108, Normandie Univ, UNIROUEN, Rouen, France.
Dauchel H; LITIS EA 4108, Normandie Univ, UNIROUEN, Rouen, France.
Lecroq T; LITIS EA 4108, Normandie Univ, UNIROUEN, Rouen, France.
Celebi A; INSERM U1245, Team Genomics and Biomarkers of Lymphoma and Solid Tumors, Normandie Univ, UNIROUEN, Rouen, France.; Centre Henri Becquerel, Rouen, France.; Master Bioinformatique BIM, Normandie Univ, UNIROUEN, Rouen, France.
Ruminy P; INSERM U1245, Team Genomics and Biomarkers of Lymphoma and Solid Tumors, Normandie Univ, UNIROUEN, Rouen, France.; Centre Henri Becquerel, Rouen, France.
Marchand V; INSERM U1245, Team Genomics and Biomarkers of Lymphoma and Solid Tumors, Normandie Univ, UNIROUEN, Rouen, France.; Centre Henri Becquerel, Rouen, France.
Lanic MD; INSERM U1245, Team Genomics and Biomarkers of Lymphoma and Solid Tumors, Normandie Univ, UNIROUEN, Rouen, France.; Centre Henri Becquerel, Rouen, France.
Dubois S; INSERM U1245, Team Genomics and Biomarkers of Lymphoma and Solid Tumors, Normandie Univ, UNIROUEN, Rouen, France.; Centre Henri Becquerel, Rouen, France.
Penther D; INSERM U1245, Team Genomics and Biomarkers of Lymphoma and Solid Tumors, Normandie Univ, UNIROUEN, Rouen, France.; Centre Henri Becquerel, Rouen, France.
Tilly H; INSERM U1245, Team Genomics and Biomarkers of Lymphoma and Solid Tumors, Normandie Univ, UNIROUEN, Rouen, France.; Centre Henri Becquerel, Rouen, France.
Mareschal S; INSERM U1052 UMR CNRS 5286, Cancer Research Center of Lyon, Lyon, France.
Jardin F; INSERM U1245, Team Genomics and Biomarkers of Lymphoma and Solid Tumors, Normandie Univ, UNIROUEN, Rouen, France.; Centre Henri Becquerel, Rouen, France.
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Źródło :
BMC bioinformatics [BMC Bioinformatics] 2021 Mar 12; Vol. 22 (1), pp. 120. Date of Electronic Publication: 2021 Mar 12.
Typ publikacji :
Journal Article; Multicenter Study
MeSH Terms :
Comparative Genomic Hybridization*
DNA Copy Number Variations*
High-Throughput Nucleotide Sequencing*
Adult ; Humans ; Male ; Middle Aged ; Prospective Studies ; Sequence Analysis, DNA
Czasopismo naukowe
Tytuł :
Tyrosinase-mediated melanogenesis in melanoma cells: Array comparative genome hybridization integrating proteomics and bioinformatics studies.
Autorzy :
Yin SJ; College of Biological and Environmental Sciences, Zhejiang Wanli University, Ningbo 315100, PR China.
Lee JR; Department of Molecular Cell Biology, Sungkyunkwan University School of Medicine, Suwon, South Korea.
Hahn MJ; Department of Molecular Cell Biology, Sungkyunkwan University School of Medicine, Suwon, South Korea.
Yang JM; Department of Dermatology, Sungkyunkwan University School of Medicine, Samsung Medical Center, Seoul 135-710, South Korea.
Qian GY; College of Biological and Environmental Sciences, Zhejiang Wanli University, Ningbo 315100, PR China. Electronic address: .
Park YD; College of Biological and Environmental Sciences, Zhejiang Wanli University, Ningbo 315100, PR China; Skin Diseases Research Center, Yangtze Delta Region Institute of Tsinghua University, 705 Yatai Road, Jiaxing 314006, PR China; Zhejiang Provincial Key Laboratory of Applied Enzymology, Yangtze Delta Region Institute of Tsinghua University, 705 Yatai Road, Jiaxing 314006, PR China. Electronic address: .
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Źródło :
International journal of biological macromolecules [Int J Biol Macromol] 2021 Feb 15; Vol. 170, pp. 150-163. Date of Electronic Publication: 2020 Dec 29.
Typ publikacji :
Journal Article
MeSH Terms :
Comparative Genomic Hybridization*
Computational Biology/*methods
Melanins/*biosynthesis
Melanoma/*metabolism
Monophenol Monooxygenase/*metabolism
Neoplasm Proteins/*metabolism
Proteomics/*methods
Cell Line, Tumor ; Chromatography, Liquid ; Chromosomes, Human, Pair 11/genetics ; Clone Cells ; Gene Dosage ; Gene Ontology ; Humans ; Melanoma/genetics ; Monophenol Monooxygenase/genetics ; Neoplasm Proteins/genetics ; Pigmentation ; Protein Interaction Mapping ; Spectrometry, Mass, Electrospray Ionization ; Tandem Mass Spectrometry
Czasopismo naukowe
Tytuł :
Prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome derived from chromosome 15 in a pregnancy associated with recurrent Down syndrome.
Autorzy :
Chen CP; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, 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; Department of Medical Laboratory Science and Biotechnology, Asia University, Taichung, Taiwan. Electronic address: .
Chan CH; Department of Obstetrics and Gynecology, Hsinchu MacKay Memorial Hospital, Hsinchu, Taiwan.
Chern SR; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
Wu PS; Gene Biodesign Co. Ltd, Taipei, Taiwan.
Chen SW; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
Wu FT; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
Town DD; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
Lee MS; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
Wang W; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
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Źródło :
Taiwanese journal of obstetrics & gynecology [Taiwan J Obstet Gynecol] 2021 Jan; Vol. 60 (1), pp. 152-156.
Typ publikacji :
Case Reports
MeSH Terms :
Amniocentesis*
Comparative Genomic Hybridization*
Chromosome Aberrations/*embryology
Chromosomes, Human, Pair 15/*genetics
Down Syndrome/*diagnosis
Abortion, Induced ; Adult ; Down Syndrome/embryology ; Down Syndrome/genetics ; Female ; Genetic Markers/genetics ; Humans ; Karyotype ; Polymerase Chain Reaction ; Pregnancy
Raport
Tytuł :
Reducing misdiagnosis caused by maternal cell contamination in genetic testing for early pregnancy loss.
Autorzy :
Volozonoka L; Scientific Laboratory of Molecular Genetics, Riga Stradins University , Riga, Latvia.
Gailite L; Scientific Laboratory of Molecular Genetics, Riga Stradins University , Riga, Latvia.
Perminov D; Egila Gulbja Laboratory , Riga, Latvia.
Kornejeva L; IVF Riga Clinic , Riga, Latvia.
Fodina V; IVF Riga Clinic , Riga, Latvia.
Kempa I; Scientific Laboratory of Molecular Genetics, Riga Stradins University , Riga, Latvia.
Miskova A; Department of Obstetrics and Gynecology, Riga Stradins University , Riga, Latvia.
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Źródło :
Systems biology in reproductive medicine [Syst Biol Reprod Med] 2020 Dec; Vol. 66 (6), pp. 410-420. Date of Electronic Publication: 2020 Oct 15.
Typ publikacji :
Journal Article
MeSH Terms :
Comparative Genomic Hybridization*
Genetic Testing*
Specimen Handling*
Abortion, Spontaneous/*genetics
Abortion, Spontaneous/diagnosis ; Diagnostic Errors ; Female ; Genetic Predisposition to Disease ; Gestational Age ; Humans ; Karyotype ; Karyotyping ; Predictive Value of Tests ; Pregnancy ; Reproducibility of Results
Czasopismo naukowe
Tytuł :
High-grade Follicular Lymphomas Exhibit Clinicopathologic, Cytogenetic, and Molecular Diversity Extending Beyond Grades 3A and 3B.
Autorzy :
Laurent C; Department of Pathology, Institut Universitaire du Cancer, CHU de Toulouse.; INSERM, U.1037, Centre de Recherche en Cancerologie de Toulouse-Purpan, laboratoire d'excellence TOUCAN, Toulouse.
Adélaïde J; Departments of Predictive Oncology.
Guille A; Departments of Predictive Oncology.
Tesson B; Institut Carnot CALYM.
Gat E; Institut Carnot CALYM.
Evrard S; Department of Pathology, Institut Universitaire du Cancer, CHU de Toulouse.
Escudié F; Department of Pathology, Institut Universitaire du Cancer, CHU de Toulouse.
Syrykh C; Department of Pathology, Institut Universitaire du Cancer, CHU de Toulouse.
Canioni D; Department of Pathology, Hôpital Necker.
Fabiani B; Department of Pathology, AP-HP, Hôpital Saint-Antoine.
Meignin V; Department of Pathology, Hôpital Saint-Louis, Paris.
Chassagne-Clement C; Department of Pathology, Centre Léon Bérard.
Dartigues P; Department of Pathology, Institut Gustave Roussy, Villejuif.
Traverse-Glehen A; Department of Pathology, Centre Hospitalier Lyon-Sud.
Parrens M; Département de Pathologie, Hôpital du Haut Lévêque, Bordeaux.
Huet S; Hospices Civils de Lyon, Centre Hospitalier Lyon Sud, Laboratoire d'Hématologie, Pierre-Bénite.
Copie-Bergman C; LYSA-P, Hôpital Henri Mondor, Creteil.
Salles G; Department of Hematology, Cancer Research Center of Lyon, Lyon.
Birnbaum D; Departments of Predictive Oncology.
Brousset P; Department of Pathology, Institut Universitaire du Cancer, CHU de Toulouse.; INSERM, U.1037, Centre de Recherche en Cancerologie de Toulouse-Purpan, laboratoire d'excellence TOUCAN, Toulouse.
Morschhauser F; University Lille, CHU Lille, ULR 7365, Groupe de Recherche sur les formes Injectables et les Technologies Associées (GRITA), Lille, France.
Xerri L; Pathology and Tumor Immunology, Institut Paoli-Calmettes, Centre de Recherche en Cancérologie de Marseille (CRCM), Inserm U1068, CNRS UMR7258, Aix-Marseille University, Marseille.
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Corporate Authors :
Lymphoma Study Association (LYSA)
Źródło :
The American journal of surgical pathology [Am J Surg Pathol] 2021 Oct 01; Vol. 45 (10), pp. 1324-1336.
Typ publikacji :
Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
MeSH Terms :
Cytogenetic Analysis*
Genetic Heterogeneity*
Biomarkers, Tumor/*genetics
Lymphoma, Follicular/*genetics
Lymphoma, Follicular/*pathology
Adult ; Aged ; Aged, 80 and over ; Antineoplastic Agents/therapeutic use ; Comparative Genomic Hybridization ; Female ; France ; Gene Rearrangement ; Genetic Predisposition to Disease ; High-Throughput Nucleotide Sequencing ; Humans ; Immunohistochemistry ; In Situ Hybridization, Fluorescence ; Lymphoma, Follicular/drug therapy ; Lymphoma, Follicular/mortality ; Male ; Middle Aged ; Mutation ; Neoplasm Grading ; Phenotype ; Predictive Value of Tests ; Time Factors ; Treatment Outcome ; Young Adult
Czasopismo naukowe
Tytuł :
Copy number alteration analysis for neuroblastoma using droplet digital polymerase chain reaction.
Autorzy :
Ishii Y; Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University (TMDU), Bunkyo-Ku, Tokyo, Japan.
Sato-Otsubo A; Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Bunkyo-Ku, Tokyo, Japan.
Takita J; Department of Pediatrics, Graduate School of Medicine, Kyoto University, Sakyo-Ku, Kyoto, Japan.
Morio T; Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University (TMDU), Bunkyo-Ku, Tokyo, Japan.
Takagi M; Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University (TMDU), Bunkyo-Ku, Tokyo, Japan.
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Źródło :
Pediatrics international : official journal of the Japan Pediatric Society [Pediatr Int] 2021 Oct; Vol. 63 (10), pp. 1192-1197. Date of Electronic Publication: 2021 Aug 21.
Typ publikacji :
Journal Article
MeSH Terms :
DNA Copy Number Variations*
Neuroblastoma*/diagnosis
Neuroblastoma*/genetics
Comparative Genomic Hybridization ; Humans ; In Situ Hybridization, Fluorescence ; Polymerase Chain Reaction
Czasopismo naukowe
Tytuł :
Elucidation of molecular pathogenesis and drug development for psychiatric disorders from rare disease-susceptibility variants.
Autorzy :
Kimura H; Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Japan. Electronic address: .
Mori D; Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Japan; Brain & Mind Research Center, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Aleksic B; Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Ozaki N; Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Japan; Brain & Mind Research Center, Nagoya University Graduate School of Medicine, Nagoya, Japan; Medical Genomics Center, Nagoya University Hospital, Nagoya, Japan.
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Źródło :
Neuroscience research [Neurosci Res] 2021 Sep; Vol. 170, pp. 24-31. Date of Electronic Publication: 2020 Dec 11.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Mental Disorders*/drug therapy
Mental Disorders*/genetics
Rare Diseases*
Animals ; Comparative Genomic Hybridization ; Drug Development ; Genetic Predisposition to Disease ; Mice ; Polymorphism, Single Nucleotide
Czasopismo naukowe
Tytuł :
[Advances in identification methods of alien genomic components in plants].
Autorzy :
Xie Z; Key Laboratory of Horticulture Science for Southern Mountains Regions of Ministry of Education, College of Horticulture and Landscape Architecture, Southwest University, Chongqing 400715, China.; State Cultivation Base of Crop Stress Biology for Southern Mountainous Land, Academy of Agricultural Sciences, Southwest University, Chongqing 400715, China.
Dang J; Key Laboratory of Horticulture Science for Southern Mountains Regions of Ministry of Education, College of Horticulture and Landscape Architecture, Southwest University, Chongqing 400715, China.; State Cultivation Base of Crop Stress Biology for Southern Mountainous Land, Academy of Agricultural Sciences, Southwest University, Chongqing 400715, China.
Wen G; Key Laboratory of Horticulture Science for Southern Mountains Regions of Ministry of Education, College of Horticulture and Landscape Architecture, Southwest University, Chongqing 400715, China.; State Cultivation Base of Crop Stress Biology for Southern Mountainous Land, Academy of Agricultural Sciences, Southwest University, Chongqing 400715, China.
Wang H; Key Laboratory of Horticulture Science for Southern Mountains Regions of Ministry of Education, College of Horticulture and Landscape Architecture, Southwest University, Chongqing 400715, China.; State Cultivation Base of Crop Stress Biology for Southern Mountainous Land, Academy of Agricultural Sciences, Southwest University, Chongqing 400715, China.
Guo Q; Key Laboratory of Horticulture Science for Southern Mountains Regions of Ministry of Education, College of Horticulture and Landscape Architecture, Southwest University, Chongqing 400715, China.; State Cultivation Base of Crop Stress Biology for Southern Mountainous Land, Academy of Agricultural Sciences, Southwest University, Chongqing 400715, China.
Liang G; Key Laboratory of Horticulture Science for Southern Mountains Regions of Ministry of Education, College of Horticulture and Landscape Architecture, Southwest University, Chongqing 400715, China.; State Cultivation Base of Crop Stress Biology for Southern Mountainous Land, Academy of Agricultural Sciences, Southwest University, Chongqing 400715, China.
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Źródło :
Sheng wu gong cheng xue bao = Chinese journal of biotechnology [Sheng Wu Gong Cheng Xue Bao] 2021 Aug 25; Vol. 37 (8), pp. 2703-2718.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Chromosomes, Plant*
Genome, Plant*/genetics
Comparative Genomic Hybridization ; Genomics ; Triticum/genetics
Czasopismo naukowe
Tytuł :
Cytogenetically Elusive Sex Chromosomes in Scincoidean Lizards.
Autorzy :
Kostmann A; Department of Ecology, Faculty of Science, Charles University, 12844 Prague, Czech Republic.
Augstenová B; Department of Ecology, Faculty of Science, Charles University, 12844 Prague, Czech Republic.
Frynta D; Department of Zoology, Faculty of Science, Charles University, 12844 Prague, Czech Republic.
Kratochvíl L; Department of Ecology, Faculty of Science, Charles University, 12844 Prague, Czech Republic.
Rovatsos M; Department of Ecology, Faculty of Science, Charles University, 12844 Prague, Czech Republic.
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Źródło :
International journal of molecular sciences [Int J Mol Sci] 2021 Aug 12; Vol. 22 (16). Date of Electronic Publication: 2021 Aug 12.
Typ publikacji :
Journal Article
MeSH Terms :
Cytogenetic Analysis/*methods
Lizards/*classification
Sex Chromosomes/*genetics
Animals ; Comparative Genomic Hybridization ; DNA, Ribosomal/genetics ; Diploidy ; Evolution, Molecular ; Female ; In Situ Hybridization, Fluorescence ; Karyotyping ; Lizards/genetics ; Male ; Sex Determination Processes
Czasopismo naukowe
Tytuł :
Clinical application of whole transcriptome sequencing for the classification of patients with acute lymphoblastic leukemia.
Autorzy :
Walter W; MLL Munich Leukemia Laboratory, Max-Lebsche-Platz 31, 81377, Munich, Germany. .
Shahswar R; Department of Hematology, Hemostasis, Oncology, and Stem Cell Transplantation, Hannover Medical School, 30625, Hannover, Germany.
Stengel A; MLL Munich Leukemia Laboratory, Max-Lebsche-Platz 31, 81377, Munich, Germany.
Meggendorfer M; MLL Munich Leukemia Laboratory, Max-Lebsche-Platz 31, 81377, Munich, Germany.
Kern W; MLL Munich Leukemia Laboratory, Max-Lebsche-Platz 31, 81377, Munich, Germany.
Haferlach T; MLL Munich Leukemia Laboratory, Max-Lebsche-Platz 31, 81377, Munich, Germany.
Haferlach C; MLL Munich Leukemia Laboratory, Max-Lebsche-Platz 31, 81377, Munich, Germany.
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Źródło :
BMC cancer [BMC Cancer] 2021 Aug 02; Vol. 21 (1), pp. 886. Date of Electronic Publication: 2021 Aug 02.
Typ publikacji :
Journal Article
MeSH Terms :
Gene Expression Profiling*
Transcriptome*
Whole Exome Sequencing*
Precursor Cell Lymphoblastic Leukemia-Lymphoma/*genetics
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Biomarkers, Tumor ; Child ; Child, Preschool ; Comparative Genomic Hybridization ; Computational Biology ; Cytogenetic Analysis ; DNA Copy Number Variations ; Female ; Gene Rearrangement ; Histocytochemistry/methods ; Humans ; Immunophenotyping/methods ; In Situ Hybridization, Fluorescence ; Infant ; Male ; Middle Aged ; Oncogene Proteins, Fusion/genetics ; Polymorphism, Single Nucleotide ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/diagnosis ; Young Adult
Czasopismo naukowe
Tytuł :
Monosomy 13 in Mammary Myofibroblastoma.
Autorzy :
Panagopoulos I; Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway .
Gorunova L; Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.
Lund-Iversen M; Department of Pathology, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.
Heim S; Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.; Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway.
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Źródło :
Anticancer research [Anticancer Res] 2021 Aug; Vol. 41 (8), pp. 3747-3751.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Chromosomes, Human, Pair 13*
Monosomy/*genetics
Neoplasms, Muscle Tissue/*genetics
Aged ; Chromosome Banding ; Comparative Genomic Hybridization ; Humans ; Karyotyping ; Male
Czasopismo naukowe
Tytuł :
Identification of a Novel Copy Number Variation of EYA4 Causing Autosomal Dominant Non-syndromic Hearing Loss.
Autorzy :
Ishino T; Department of Otorhinolaryngology, Head and Neck Surgery, Graduate School of Biomedical and Health Sciences, Hiroshima University.
Ogawa Y; Department of Otorhinolaryngology, Head and Neck Surgery, Graduate School of Biomedical and Health Sciences, Hiroshima University.
Sonoyama T; Department of Otorhinolaryngology, Head and Neck Surgery, Graduate School of Biomedical and Health Sciences, Hiroshima University.
Taruya T; Department of Otorhinolaryngology, Head and Neck Surgery, Graduate School of Biomedical and Health Sciences, Hiroshima University.
Kono T; Department of Otorhinolaryngology, Head and Neck Surgery, Graduate School of Biomedical and Health Sciences, Hiroshima University.
Hamamoto T; Department of Otorhinolaryngology, Head and Neck Surgery, Graduate School of Biomedical and Health Sciences, Hiroshima University.
Ueda T; Department of Otorhinolaryngology, Head and Neck Surgery, Graduate School of Biomedical and Health Sciences, Hiroshima University.
Takeno S; Department of Otorhinolaryngology, Head and Neck Surgery, Graduate School of Biomedical and Health Sciences, Hiroshima University.
Moteki H; Department of Otorhinolaryngology, Shinshu University School of Medicine.
Nishio SY; Department of Otorhinolaryngology, Shinshu University School of Medicine.
Usami SI; Department of Otorhinolaryngology, Shinshu University School of Medicine.
Nagano Y; Division of Rehabilitation, Department of Clinical Practice and Support, Hiroshima University, Minami-ku, Hiroshima, Japan.
Yoshimura A; Division of Rehabilitation, Department of Clinical Practice and Support, Hiroshima University, Minami-ku, Hiroshima, Japan.
Yoshikawa K; Division of Rehabilitation, Department of Clinical Practice and Support, Hiroshima University, Minami-ku, Hiroshima, Japan.
Kato M; Division of Rehabilitation, Department of Clinical Practice and Support, Hiroshima University, Minami-ku, Hiroshima, Japan.
Ichimoto M; Division of Rehabilitation, Department of Clinical Practice and Support, Hiroshima University, Minami-ku, Hiroshima, Japan.
Watanabe R; Division of Rehabilitation, Department of Clinical Practice and Support, Hiroshima University, Minami-ku, Hiroshima, Japan.
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Źródło :
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology [Otol Neurotol] 2021 Aug 01; Vol. 42 (7), pp. e866-e874.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Hearing Loss*
Hearing Loss, Sensorineural*/genetics
Comparative Genomic Hybridization ; DNA Copy Number Variations ; Humans ; Mutation ; Pedigree ; Trans-Activators
Czasopismo naukowe
Tytuł :
Novel familial IQSEC2 pathogenic sequence variant associated with neurodevelopmental disorders and epilepsy.
Autorzy :
Wayhelova M; Department of Experimental Biology, Faculty of Science, Masaryk University, Brno, Czech Republic.; Department of Medical Genetics, University Hospital Brno, Brno, Czech Republic.
Ryzí M; Clinic of Children's Neurology, University Hospital Brno, Brno, Czech Republic.
Oppelt J; CEITEC-Central European Institute of Technology, Masaryk University, Brno, Czech Republic.
Hladilkova E; Department of Medical Genetics, University Hospital Brno, Brno, Czech Republic.
Vallova V; Department of Experimental Biology, Faculty of Science, Masaryk University, Brno, Czech Republic.; Department of Medical Genetics, University Hospital Brno, Brno, Czech Republic.
Krskova L; Department of Pathology and Molecular Medicine, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic.
Vilemova M; Department of Medical Genetics, University Hospital Brno, Brno, Czech Republic.
Polackova H; Department of Experimental Biology, Faculty of Science, Masaryk University, Brno, Czech Republic.
Gaillyova R; Department of Medical Genetics, University Hospital Brno, Brno, Czech Republic.
Kuglik P; Department of Experimental Biology, Faculty of Science, Masaryk University, Brno, Czech Republic. .; Department of Medical Genetics, University Hospital Brno, Brno, Czech Republic. .
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Źródło :
Neurogenetics [Neurogenetics] 2020 Oct; Vol. 21 (4), pp. 269-278. Date of Electronic Publication: 2020 Jun 20.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Comparative Genomic Hybridization*
Genetic Variation*
Epilepsy/*genetics
Guanine Nucleotide Exchange Factors/*genetics
Neurodevelopmental Disorders/*genetics
Algorithms ; Child ; Child, Preschool ; Chromosome Banding ; Epilepsy/complications ; Female ; Frameshift Mutation ; Gene Deletion ; High-Throughput Nucleotide Sequencing ; Humans ; Karyotyping ; Male ; Neurodevelopmental Disorders/complications ; Oligonucleotide Array Sequence Analysis ; Phenotype ; X Chromosome Inactivation
Czasopismo naukowe
Tytuł :
Array-CGH: importance in the study of developmental delays in pediatrics.
Autorzy :
Pinheiro MI; Hospital de São João, 4200-351 Porto, Portugal.
Silva C; Hospital de São João, 4200-351 Porto, Portugal.
Lourenço L; Hospital São João, Porto, Portugal.
Gonçalves D; Hospital de São João, 4200-351 Porto, Portugal.
Dória S; University of Porto. Faculty of Medicine, Porto, Portugal.
Guardiano M; Hospital São João, Porto, Portugal.
Leão M; Hospital de São João, 4200-351 Porto, Portugal.
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Transliterated Title :
Relevancia de los arrays de hibridación genómica comparada en el estudio de los retrasos del desarrollo en pediatría.
Źródło :
Revista de neurologia [Rev Neurol] 2020 Sep 01; Vol. 71 (5), pp. 171-176.
Typ publikacji :
Journal Article
MeSH Terms :
Comparative Genomic Hybridization*
Developmental Disabilities/*genetics
Intellectual Disability/*genetics
Child ; Child, Preschool ; Female ; Humans ; Male ; Retrospective Studies
Czasopismo naukowe
Tytuł :
Pathogenic and antimicrobial resistance genes in Streptococcus oralis strains revealed by comparative genome analysis.
Autorzy :
Zhou J; Department of Human Microbiome, School and Hospital of Stomatology, Shandong University, Shandong Provincial Key Laboratory of Oral Tissue Regeneration, Shandong Engineering Laboratory for Dental Materials and Oral Tissue Regeneration, No. 44-1 Wenhua Road West, 250012 Jinan, Shandong, China.
Sun T; Department of Human Microbiome, School and Hospital of Stomatology, Shandong University, Shandong Provincial Key Laboratory of Oral Tissue Regeneration, Shandong Engineering Laboratory for Dental Materials and Oral Tissue Regeneration, No. 44-1 Wenhua Road West, 250012 Jinan, Shandong, China.
Kang W; Department of Human Microbiome, School and Hospital of Stomatology, Shandong University, Shandong Provincial Key Laboratory of Oral Tissue Regeneration, Shandong Engineering Laboratory for Dental Materials and Oral Tissue Regeneration, No. 44-1 Wenhua Road West, 250012 Jinan, Shandong, China.
Tang D; Department of Human Microbiome, School and Hospital of Stomatology, Shandong University, Shandong Provincial Key Laboratory of Oral Tissue Regeneration, Shandong Engineering Laboratory for Dental Materials and Oral Tissue Regeneration, No. 44-1 Wenhua Road West, 250012 Jinan, Shandong, China.
Feng Q; Department of Human Microbiome, School and Hospital of Stomatology, Shandong University, Shandong Provincial Key Laboratory of Oral Tissue Regeneration, Shandong Engineering Laboratory for Dental Materials and Oral Tissue Regeneration, No. 44-1 Wenhua Road West, 250012 Jinan, Shandong, China; State Key Laboratory of Microbial Technology, Shandong University,266237 Qingdao, Shandong, China; NHC Key Laboratory of Otorhinolaryngology (Shandong University), Jinan, Shandong, China. Electronic address: .
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Źródło :
Genomics [Genomics] 2020 Sep; Vol. 112 (5), pp. 3783-3793. Date of Electronic Publication: 2020 Apr 22.
Typ publikacji :
Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Comparative Genomic Hybridization*
Genes, Bacterial*
Drug Resistance, Bacterial/*genetics
Streptococcus oralis/*genetics
Anti-Bacterial Agents/pharmacology ; RNA, Ribosomal, 16S/genetics ; Streptococcus oralis/drug effects ; Virulence Factors/genetics
Czasopismo naukowe
Tytuł :
The utility of genome-wide cell-free DNA screening in the prenatal diagnosis of Pallister-Killian syndrome.
Autorzy :
Chau MHK; Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China.
Lam DYM; NIPT Department, NGS Lab, Xcelom Limited, Hong Kong, China.
Zhu X; Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China.
Kwok YKY; Department of Obstetrics and Gynaecology, Prince of Wales Hospital, Shatin, Hong Kong, China.
Ting YH; Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China.
Chan WP; Obstetrics & Gynaecology Centre, Hong Kong Sanatorium & Hospital, Hong Kong, China.
Shi M; Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China.
Cheung SWH; NIPT Department, NGS Lab, Xcelom Limited, Hong Kong, China.
Lau TK; Department of Obstetrics and Gynaecology, Prince of Wales Hospital, Shatin, Hong Kong, China.; Fetal Medicine Centre, Paramount Medical Centre, Hong Kong, China.
Ville Y; EA 73-28, Faculté de Médecine de l'Université René Descartes, Paris, France.
Leung TY; Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China.; Shenzhen Research Institute, The Chinese University of Hong Kong, Shenzhen, China.; The Chinese University of Hong Kong-Baylor College of Medicine Joint Center for Medical Genetics, The Chinese University of Hong Kong, Hong Kong, China.
Choy KW; Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China.; Shenzhen Research Institute, The Chinese University of Hong Kong, Shenzhen, China.; The Chinese University of Hong Kong-Baylor College of Medicine Joint Center for Medical Genetics, The Chinese University of Hong Kong, Hong Kong, China.
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Źródło :
Prenatal diagnosis [Prenat Diagn] 2020 Jul; Vol. 40 (8), pp. 1005-1012. Date of Electronic Publication: 2020 May 17.
Typ publikacji :
Evaluation Study; Journal Article
MeSH Terms :
Comparative Genomic Hybridization*/methods
Comparative Genomic Hybridization*/statistics & numerical data
Cell-Free Nucleic Acids/*analysis
Chromosome Disorders/*diagnosis
Prenatal Diagnosis/*methods
Adult ; China/epidemiology ; Chromosome Disorders/epidemiology ; Chromosome Disorders/genetics ; Chromosomes, Human, Pair 12/genetics ; Cohort Studies ; Female ; Genetic Testing/methods ; Genetic Testing/statistics & numerical data ; Humans ; Infant, Newborn ; Male ; Microarray Analysis/methods ; Predictive Value of Tests ; Pregnancy ; Prenatal Diagnosis/statistics & numerical data ; Retrospective Studies ; Young Adult
SCR Disease Name :
Pallister Killian syndrome
Czasopismo naukowe
Tytuł :
Clinical Applications of Chromosomal Microarray Testing in Myeloid Malignancies.
Autorzy :
Ronaghy A; Department of Hematopathology, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd. Unit 072, Houston, TX, 77030, USA.
Yang RK; Department of Hematopathology, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd. Unit 072, Houston, TX, 77030, USA.
Khoury JD; Department of Hematopathology, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd. Unit 072, Houston, TX, 77030, USA.
Kanagal-Shamanna R; Department of Hematopathology, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd. Unit 072, Houston, TX, 77030, USA. .
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Źródło :
Current hematologic malignancy reports [Curr Hematol Malig Rep] 2020 Jun; Vol. 15 (3), pp. 194-202.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Chromosome Aberrations*
Chromosomes, Human*
Comparative Genomic Hybridization*
Microarray Analysis*
Leukemia, Myeloid, Acute/*genetics
Leukemia, Myelomonocytic, Chronic/*genetics
Myelodysplastic Syndromes/*genetics
DNA Copy Number Variations ; Genetic Predisposition to Disease ; High-Throughput Nucleotide Sequencing ; Humans ; Leukemia, Myeloid, Acute/diagnosis ; Leukemia, Myelomonocytic, Chronic/diagnosis ; Loss of Heterozygosity ; Myelodysplastic Syndromes/diagnosis ; Polymorphism, Single Nucleotide ; Predictive Value of Tests ; Prognosis ; Reproducibility of Results
Czasopismo naukowe
Tytuł :
Methylation status of genes escaping from X-chromosome inactivation in patients with X-chromosome rearrangements.
Autorzy :
Kawashima, Sayaka (AUTHOR)
Hattori, Atsushi (AUTHOR)
Suzuki, Erina (AUTHOR)
Matsubara, Keiko (AUTHOR)
Toki, Machiko (AUTHOR)
Kosaki, Rika (AUTHOR)
Hasegawa, Yukihiro (AUTHOR)
Nakabayashi, Kazuhiko (AUTHOR)
Fukami, Maki (AUTHOR)
Kagami, Masayo (AUTHOR)
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Źródło :
Clinical Epigenetics. 6/30/2021, Vol. 13 Issue 1, p1-11. 11p.
Czasopismo naukowe
Tytuł :
A new family with spastic paraplegia type 51 and novel mutations in AP4E1.
Autorzy :
Winkler, Izabela (AUTHOR)
Miotła, Paweł (AUTHOR)
Lejman, Monika (AUTHOR)
Pietrzyk, Aleksandra (AUTHOR)
Kacprzak, Magdalena (AUTHOR)
Kubiak, Marcin (AUTHOR)
Sobczyńska-Tomaszewska, Agnieszka (AUTHOR)
Skrzypczak, Maciej (AUTHOR)
Jaszczuk, Ilona (AUTHOR)
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Źródło :
BMC Medical Genomics. 5/18/2021, Vol. 14 Issue 1, p1-6. 6p.
Czasopismo naukowe

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