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


Tytuł :
History of radiation genetics: light and darkness.
Autorzy :
Nakamura N; a Department of Molecular Biosciences , RERF , Hiroshima , Japan.
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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
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.
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Źródło :
Neuropediatrics [Neuropediatrics] 2019 Jun; Vol. 50 (3), pp. 164-169. Date of Electronic Publication: 2019 Apr 02.
Typ publikacji :
Journal Article
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 :
Complex chromosomal rearrangements of human chromosome 21 in a patient manifesting clinical features partially overlapped with that of Down syndrome.
Autorzy :
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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Źródło :
Human genetics [Hum Genet] 2020 Dec; Vol. 139 (12), pp. 1555-1563. Date of Electronic Publication: 2020 Jun 13.
Typ publikacji :
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
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: .
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Źródło :
Human pathology [Hum Pathol] 2019 Apr; Vol. 86, pp. 115-123. Date of Electronic Publication: 2018 Dec 18.
Typ publikacji :
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
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.
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Źródło :
Clinical chemistry and laboratory medicine [Clin Chem Lab Med] 2019 Mar 26; Vol. 57 (4), pp. e63-e66.
Typ publikacji :
Letter
MeSH Terms :
Anterior Eye Segment*
Comparative Genomic Hybridization*
Cytochrome P-450 CYP1B1/*genetics
Cytochrome P-450 CYP1B1/deficiency ; Heterozygote ; Humans ; Mutation
Opinia redakcyjna
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.
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Źródło :
Gene [Gene] 2020 Aug 30; Vol. 753, pp. 144816. Date of Electronic Publication: 2020 May 27.
Typ publikacji :
Case Reports; Journal Article
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 :
Four novel mutations of FAM20A in amelogenesis imperfecta type IG and review of literature for its genotype and phenotype spectra.
Autorzy :
Nitayavardhana I; Geriatric Dentistry and Special Patients Care International Program, Faculty of Dentistry, Chulalongkorn University, Bangkok, 10330, Thailand.
Theerapanon T; Genomics and Precision Dentistry Research Unit, Department of Physiology, Faculty of Dentistry, Chulalongkorn University, Bangkok, 10330, Thailand.; Center of Excellence for Regenerative Dentistry, Faculty of Dentistry, Chulalongkorn University, Bangkok, 10330, Thailand.
Srichomthong C; Center of Excellence for Medical Genomics, Medical Genomics Cluster, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, 10330, Thailand.; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Bangkok, 10330, Thailand.
Piwluang S; Department of Computer Engineering, Master of Science in Software Engineering Program, Faculty of Engineering, Chulalongkorn University, Bangkok, 10330, Thailand.
Wichadakul D; Chulalongkorn Big Data Analytics and IoT Center (CUBIC), Department of Computer Engineering, Faculty of Engineering, Chulalongkorn University, Bangkok, 10330, Thailand.; Center of Excellence in Systems Biology, Faculty of Medicine, Chulalongkorn University, Bangkok, 10330, Thailand.; Research Group on Applied Computer Engineering Technology for Medicine and Healthcare, Faculty of Engineering, Chulalongkorn University, Bangkok, 10330, Thailand.
Porntaveetus T; Geriatric Dentistry and Special Patients Care International Program, Faculty of Dentistry, Chulalongkorn University, Bangkok, 10330, Thailand. .; Genomics and Precision Dentistry Research Unit, Department of Physiology, Faculty of Dentistry, Chulalongkorn University, Bangkok, 10330, Thailand. .
Shotelersuk V; Center of Excellence for Medical Genomics, Medical Genomics Cluster, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, 10330, Thailand.; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Bangkok, 10330, Thailand.
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Źródło :
Molecular genetics and genomics : MGG [Mol Genet Genomics] 2020 Jul; Vol. 295 (4), pp. 923-931. Date of Electronic Publication: 2020 Apr 03.
Typ publikacji :
Journal Article
MeSH Terms :
Amelogenesis Imperfecta/*genetics
Dental Enamel Proteins/*genetics
Nephrocalcinosis/*genetics
Sequence Deletion/*genetics
Adolescent ; Adult ; Amelogenesis Imperfecta/pathology ; Child ; Comparative Genomic Hybridization ; Exons/genetics ; Female ; Frameshift Mutation/genetics ; Genotype ; Heterozygote ; Homozygote ; Humans ; Male ; Mutation/genetics ; Nephrocalcinosis/pathology ; Pedigree ; Phenotype
Czasopismo naukowe
Tytuł :
Rb and p53-Deficient Myxofibrosarcoma and Undifferentiated Pleomorphic Sarcoma Require Skp2 for Survival.
Autorzy :
Li GZ; Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, New York.
Okada T; Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, New York.
Kim YM; Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, New York.
Agaram NP; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, New York.
Sanchez-Vega F; Department of Biostatistics, Memorial Sloan Kettering Cancer Center, New York, New York.
Shen Y; Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, New York.
Tsubokawa N; Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, New York.
Rios J; Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, New York.
Martin AS; Department of Biostatistics, Memorial Sloan Kettering Cancer Center, New York, New York.
Dickson MA; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York.; Department of Medicine, Weill Cornell Medical College, New York, New York.
Qin LX; Department of Biostatistics, Memorial Sloan Kettering Cancer Center, New York, New York.; Department of Medicine, Weill Cornell Medical College, New York, New York.
Socci ND; Department of Biostatistics, Memorial Sloan Kettering Cancer Center, New York, New York.
Singer S; Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, New York. .; Department of Surgery, Weill Cornell Medical College, New York, New York.
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Źródło :
Cancer research [Cancer Res] 2020 Jun 15; Vol. 80 (12), pp. 2461-2471. Date of Electronic Publication: 2020 Mar 11.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Comment
MeSH Terms :
Fibrosarcoma*/genetics
Sarcoma*/genetics
Soft Tissue Neoplasms*
Adult ; Animals ; Comparative Genomic Hybridization ; Humans ; Mice ; Tumor Suppressor Protein p53/genetics
Czasopismo naukowe
Tytuł :
Comparative genomic analysis provides insight into the phylogeny and virulence of atypical enteropathogenic Escherichia coli strains from Brazil.
Autorzy :
Hernandes RT; Departamento de Microbiologia e Imunologia, Instituto de Biociências, Universidade Estadual Paulista 'Júlio de Mesquita Filho' (UNESP), Botucatu, SP, Brasil.
Hazen TH; Institute for Genome Sciences, Department of Microbiology and Immunology, University of Maryland School of Medicine, Baltimore, Maryland, United States of America.
Dos Santos LF; Instituto Adolfo Lutz, São Paulo, SP, Brasil.
Richter TKS; Institute for Genome Sciences, Department of Microbiology and Immunology, University of Maryland School of Medicine, Baltimore, Maryland, United States of America.
Michalski JM; Institute for Genome Sciences, Department of Microbiology and Immunology, University of Maryland School of Medicine, Baltimore, Maryland, United States of America.
Rasko DA; Institute for Genome Sciences, Department of Microbiology and Immunology, University of Maryland School of Medicine, Baltimore, Maryland, United States of America.
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Źródło :
PLoS neglected tropical diseases [PLoS Negl Trop Dis] 2020 Jun 01; Vol. 14 (6), pp. e0008373. Date of Electronic Publication: 2020 Jun 01 (Print Publication: 2020).
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Genome, Bacterial*
Phylogeny*
Comparative Genomic Hybridization/*methods
Enteropathogenic Escherichia coli/*classification
Enteropathogenic Escherichia coli/*genetics
Virulence Factors/*genetics
Brazil ; Escherichia coli Infections ; Escherichia coli Proteins/genetics ; Humans ; Multilocus Sequence Typing ; Serotyping ; Virulence
Czasopismo naukowe
Tytuł :
Dissecting the Evolutionary Development of the Species Bifidobacterium animalis through Comparative Genomics Analyses.
Autorzy :
Lugli GA; Laboratory of Probiogenomics, Department of Chemistry, Life Sciences, and Environmental Sustainability, University of Parma, Parma, Italy.
Mancino W; Laboratory of Probiogenomics, Department of Chemistry, Life Sciences, and Environmental Sustainability, University of Parma, Parma, Italy.
Milani C; Laboratory of Probiogenomics, Department of Chemistry, Life Sciences, and Environmental Sustainability, University of Parma, Parma, Italy.
Duranti S; Laboratory of Probiogenomics, Department of Chemistry, Life Sciences, and Environmental Sustainability, University of Parma, Parma, Italy.
Mancabelli L; Laboratory of Probiogenomics, Department of Chemistry, Life Sciences, and Environmental Sustainability, University of Parma, Parma, Italy.
Napoli S; Laboratory of Probiogenomics, Department of Chemistry, Life Sciences, and Environmental Sustainability, University of Parma, Parma, Italy.
Mangifesta M; Laboratory of Probiogenomics, Department of Chemistry, Life Sciences, and Environmental Sustainability, University of Parma, Parma, Italy.; GenProbio srl, Parma, Italy.
Viappiani A; GenProbio srl, Parma, Italy.
Anzalone R; Laboratory of Probiogenomics, Department of Chemistry, Life Sciences, and Environmental Sustainability, University of Parma, Parma, Italy.
Longhi G; GenProbio srl, Parma, Italy.
van Sinderen D; APC Microbiome Institute and School of Microbiology, Bioscience Institute, National University of Ireland, Cork, Ireland.
Ventura M; Laboratory of Probiogenomics, Department of Chemistry, Life Sciences, and Environmental Sustainability, University of Parma, Parma, Italy.; Microbiome Research Hub, University of Parma, Parma, Italy.
Turroni F; Laboratory of Probiogenomics, Department of Chemistry, Life Sciences, and Environmental Sustainability, University of Parma, Parma, Italy .; Microbiome Research Hub, University of Parma, Parma, Italy.
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Źródło :
Applied and environmental microbiology [Appl Environ Microbiol] 2019 Mar 22; Vol. 85 (7). Date of Electronic Publication: 2019 Mar 22 (Print Publication: 2019).
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Comparative Genomic Hybridization*
Evolution, Molecular*
Phylogeny*
Bifidobacterium animalis/*genetics
Genes, Bacterial/*genetics
Animals ; Bifidobacterium/genetics ; Bifidobacterium animalis/enzymology ; Bifidobacterium animalis/metabolism ; Birds ; Carbohydrate Metabolism ; Carbohydrates ; Feces/microbiology ; Gastrointestinal Microbiome ; Gastrointestinal Tract/microbiology ; Genetic Variation ; Genome, Bacterial/genetics ; Humans ; Mammals ; Polysaccharides ; Species Specificity
Czasopismo naukowe
Tytuł :
Array CGH-based detection of CNV regions and their potential association with reproduction and other economic traits in Holsteins.
Autorzy :
Liu M; College of Animal Science and Technology, Northwest A&F University, Shaanxi Key Laboratory of Agricultural Molecular Biology, Yangling, 712100, Shaanxi, China.; Animal Genomics and Improvement Laboratory, BARC, Agricultural Research Service, USDA, Beltsville, MD, 20705, USA.
Fang L; Animal Genomics and Improvement Laboratory, BARC, Agricultural Research Service, USDA, Beltsville, MD, 20705, USA.; Department of Animal and Avian Sciences, University of Maryland, College Park, MD, USA.
Liu S; Animal Genomics and Improvement Laboratory, BARC, Agricultural Research Service, USDA, Beltsville, MD, 20705, USA.; College of Animal Science and Technology, China Agricultural University, Beijing, 100193, China.
Pan MG; Animal Genomics and Improvement Laboratory, BARC, Agricultural Research Service, USDA, Beltsville, MD, 20705, USA.
Seroussi E; Agricultural Research Organization (ARO), Volcani Center, Institute of Animal Science, Department of Quantitative and Molecular Genetics, HaMaccabim Road, P.O.B 15159, 7528809, Rishon LeTsiyon, Israel.
Cole JB; Animal Genomics and Improvement Laboratory, BARC, Agricultural Research Service, USDA, Beltsville, MD, 20705, USA.
Ma L; Department of Animal and Avian Sciences, University of Maryland, College Park, MD, USA.
Chen H; College of Animal Science and Technology, Northwest A&F University, Shaanxi Key Laboratory of Agricultural Molecular Biology, Yangling, 712100, Shaanxi, China. .
Liu GE; Animal Genomics and Improvement Laboratory, BARC, Agricultural Research Service, USDA, Beltsville, MD, 20705, USA. .
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Źródło :
BMC genomics [BMC Genomics] 2019 Mar 07; Vol. 20 (1), pp. 181. Date of Electronic Publication: 2019 Mar 07.
Typ publikacji :
Journal Article
MeSH Terms :
Comparative Genomic Hybridization*
DNA Copy Number Variations*
Cattle/*genetics
Cattle/*physiology
Reproduction/*genetics
Animals ; Male
Czasopismo naukowe
Tytuł :
Refining the Phenotype of Recurrent Rearrangements of Chromosome 16.
Autorzy :
Redaelli S; School of Medicine and Surgery, University of Milano-Bicocca, 20900 Monza, Italy. .
Maitz S; Clinical Pediatric Genetics Unit, Pediatrics Clinics, MBBM Foundation, S. Gerardo Hospital, 20900 Monza, Italy. .
Crosti F; Medical Genetics Laboratory, Clinical Pathology Department, S. Gerardo Hospital, 20900 Monza, Italy. .
Sala E; Medical Genetics Laboratory, Clinical Pathology Department, S. Gerardo Hospital, 20900 Monza, Italy. .
Villa N; Medical Genetics Laboratory, Clinical Pathology Department, S. Gerardo Hospital, 20900 Monza, Italy. .
Spaccini L; Clinical Genetics Unit, Department of Obstetrics and Gynecology, V. Buzzi Children's Hospital, University of Milan, 20154 Milan, Italy. .
Selicorni A; Clinical Pediatric Unit, ASST Lariana, 22042 Como, Italy. .
Rigoldi M; Medical Genetics Laboratory, Clinical Pathology Department, S. Gerardo Hospital, 20900 Monza, Italy. .
Conconi D; School of Medicine and Surgery, University of Milano-Bicocca, 20900 Monza, Italy. .
Dalprà L; School of Medicine and Surgery, University of Milano-Bicocca, 20900 Monza, Italy. .
Roversi G; School of Medicine and Surgery, University of Milano-Bicocca, 20900 Monza, Italy. .; Medical Genetics Laboratory, Clinical Pathology Department, S. Gerardo Hospital, 20900 Monza, Italy. .
Bentivegna A; School of Medicine and Surgery, University of Milano-Bicocca, 20900 Monza, Italy. .; NeuroMI, Milan center of Neuroscience, University of Milano-Bicocca, Dept. of Neurology and Neuroscience, San Gerardo Hospital, 20900 Monza, Italy. .
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Źródło :
International journal of molecular sciences [Int J Mol Sci] 2019 Mar 04; Vol. 20 (5). Date of Electronic Publication: 2019 Mar 04.
Typ publikacji :
Journal Article
MeSH Terms :
Comparative Genomic Hybridization*
Abnormalities, Multiple/*genetics
Chromosomes, Human, Pair 16/*genetics
Developmental Disabilities/*genetics
Abnormalities, Multiple/classification ; Abnormalities, Multiple/physiopathology ; Adolescent ; Adult ; Child ; Child, Preschool ; Chromosome Aberrations ; Chromosome Deletion ; DNA Copy Number Variations/genetics ; Developmental Disabilities/classification ; Developmental Disabilities/physiopathology ; Female ; Homologous Recombination/genetics ; Humans ; Infant ; Infant, Newborn ; Karyotype ; Male ; Phenotype ; Segmental Duplications, Genomic/genetics ; Young Adult
Czasopismo naukowe
Tytuł :
High-resolution array-CGH analysis on 46,XX patients affected by early onset primary ovarian insufficiency discloses new genes involved in ovarian function.
Autorzy :
Bestetti I; Istituto Auxologico Italiano, IRCCS, Lab of Medical Cytogenetics and Molecular Genetics, Milan, Italy.; Department of Medical Biotechnology and Translational Medicine, University of Milan, Segrate, Milan, Italy.
Castronovo C; Istituto Auxologico Italiano, IRCCS, Lab of Medical Cytogenetics and Molecular Genetics, Milan, Italy.
Sironi A; Istituto Auxologico Italiano, IRCCS, Lab of Medical Cytogenetics and Molecular Genetics, Milan, Italy.; Department of Medical Biotechnology and Translational Medicine, University of Milan, Segrate, Milan, Italy.
Caslini C; Department of Medical Biotechnology and Translational Medicine, University of Milan, Segrate, Milan, Italy.
Sala C; Division of Genetics and Cell Biology, San Raffaele Research Institute and Vita Salute University, Milan, Italy.
Rossetti R; Istituto Auxologico Italiano, IRCCS, Division of Endocrine and Metabolic Diseases and Lab of Endocrine and Metabolic Research, Milan, Italy.
Crippa M; Istituto Auxologico Italiano, IRCCS, Lab of Medical Cytogenetics and Molecular Genetics, Milan, Italy.; Department of Medical Biotechnology and Translational Medicine, University of Milan, Segrate, Milan, Italy.
Ferrari I; Istituto Auxologico Italiano, IRCCS, Division of Endocrine and Metabolic Diseases and Lab of Endocrine and Metabolic Research, Milan, Italy.
Pistocchi A; Department of Medical Biotechnology and Translational Medicine, University of Milan, Segrate, Milan, Italy.
Toniolo D; Division of Genetics and Cell Biology, San Raffaele Research Institute and Vita Salute University, Milan, Italy.
Persani L; Istituto Auxologico Italiano, IRCCS, Division of Endocrine and Metabolic Diseases and Lab of Endocrine and Metabolic Research, Milan, Italy.; Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy.
Marozzi A; Department of Medical Biotechnology and Translational Medicine, University of Milan, Segrate, Milan, Italy.
Finelli P; Istituto Auxologico Italiano, IRCCS, Lab of Medical Cytogenetics and Molecular Genetics, Milan, Italy.; Department of Medical Biotechnology and Translational Medicine, University of Milan, Segrate, Milan, Italy.
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Źródło :
Human reproduction (Oxford, England) [Hum Reprod] 2019 Mar 01; Vol. 34 (3), pp. 574-583.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Comparative Genomic Hybridization*
DNA Copy Number Variations*
Gene Dosage*
Ovary/*physiology
Primary Ovarian Insufficiency/*genetics
Adolescent ; Age of Onset ; Case-Control Studies ; Child ; Databases, Genetic ; Female ; Genome, Human ; Humans ; Menopause, Premature/genetics ; Mutation ; Ovarian Diseases/genetics ; Phenotype ; Transcription Factors/genetics ; Tumor Suppressor Proteins/genetics
Czasopismo naukowe
Tytuł :
Advantages of Array Comparative Genomic Hybridization Using Buccal Swab DNA for Detecting Pallister-Killian Syndrome.
Autorzy :
Bertini V; Department of Medicine of Laboratory, Section of Cytogenetics, Azienda Ospedaliero Universitaria Pisana, Pisa, Italy. .
Gana S; Internal Medicine 1, Section of Medical Genetics, Azienda Ospedaliero Universitaria Pisana, Pisa, Italy.
Orsini A; Department of Clinical and Experimental Medicine, Section of Pediatrics, University of Pisa, Italy.
Bonuccelli A; Department of Clinical and Experimental Medicine, Section of Pediatrics, University of Pisa, Italy.
Peroni D; Department of Clinical and Experimental Medicine, Section of Pediatrics, University of Pisa, Italy.
Angelo V; Department of Medicine of Laboratory, Section of Cytogenetics, Azienda Ospedaliero Universitaria Pisana, Pisa, Italy.
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Źródło :
Annals of laboratory medicine [Ann Lab Med] 2019 Mar; Vol. 39 (2), pp. 232-234.
Typ publikacji :
Case Reports; Letter
MeSH Terms :
Comparative Genomic Hybridization*
Chromosome Disorders/*diagnosis
DNA/*analysis
Chromosome Disorders/genetics ; Chromosomes, Human, Pair 12/genetics ; Humans ; Infant ; Male ; Mosaicism ; Mouth Mucosa/metabolism
SCR Disease Name :
Pallister Killian syndrome
Raport
Tytuł :
Retrospectively investigating the 12-year experience of prenatal diagnosis of small supernumerary marker chromosomes through array comparative genomic hybridization.
Autorzy :
Huang MH; Department of Veterinary Medicine, National Chung Hsing University, Taichung, Taiwan; Youthgene Medical Laboratory, Taipei, Taiwan; Dr. Lee Woman Clinic, Taipei, Taiwan.
Lee C; Youthgene Medical Laboratory, Taipei, Taiwan; Dr. Lee Woman Clinic, Taipei, Taiwan.
Chang JS; Youthgene Medical Laboratory, Taipei, Taiwan; Dr. Lee Woman Clinic, Taipei, Taiwan.
Wang HC; Youthgene Medical Laboratory, Taipei, Taiwan; Dr. Lee Woman Clinic, Taipei, Taiwan.
Lai HL; Youthgene Medical Laboratory, Taipei, Taiwan; Dr. Lee Woman Clinic, Taipei, Taiwan.
Chang CC; Youthgene Medical Laboratory, Taipei, Taiwan; Dr. Lee Woman Clinic, Taipei, Taiwan.
Chen TW; Youthgene Medical Laboratory, Taipei, Taiwan; Dr. Lee Woman Clinic, Taipei, Taiwan.
Li YF; Youthgene Medical Laboratory, Taipei, Taiwan; Dr. Lee Woman Clinic, Taipei, Taiwan.
Lin TT; Youthgene Medical Laboratory, Taipei, Taiwan; Dr. Lee Woman Clinic, Taipei, Taiwan.
Yang CY; Youthgene Medical Laboratory, Taipei, Taiwan; Dr. Lee Woman Clinic, Taipei, Taiwan.
Ho SP; Department of Veterinary Medicine, National Chung Hsing University, Taichung, Taiwan. Electronic address: .
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Źródło :
Taiwanese journal of obstetrics & gynecology [Taiwan J Obstet Gynecol] 2019 Jan; Vol. 58 (1), pp. 139-144.
Typ publikacji :
Journal Article
MeSH Terms :
Comparative Genomic Hybridization*
DNA Copy Number Variations*
Chromosome Aberrations/*statistics & numerical data
Chromosome Disorders/*diagnosis
Amniocentesis/statistics & numerical data ; Female ; Genetic Markers ; Humans ; Pregnancy ; Retrospective Studies
Czasopismo naukowe
Tytuł :
Chromosomal Microarray Analysis Using Array Comparative Genomic Hybridization on DNA from Amniotic Fluid and Chorionic Villus Sampling.
Autorzy :
Patel A; Lineagen, Salt Lake City, UT, USA. .
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Źródło :
Methods in molecular biology (Clifton, N.J.) [Methods Mol Biol] 2019; Vol. 1885, pp. 171-186.
Typ publikacji :
Journal Article
MeSH Terms :
Amniotic Fluid*/cytology
Chorionic Villi Sampling*/methods
Comparative Genomic Hybridization*/methods
Genetic Testing*/methods
Oligonucleotide Array Sequence Analysis*/methods
Prenatal Diagnosis/*methods
Chromosome Aberrations ; Female ; Humans ; Pregnancy
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)
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Źródło :
Oncology Letters. May2020, Vol. 19 Issue 5, p3459-3468. 10p.
Czasopismo naukowe
Tytuł :
Microarray-based comparative genomic hybridisation reveals additional recurrent aberrations in adult patients evaluated for myelodysplastic syndrome with normal karyotype.
Autorzy :
Ouahchi I; Department of Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia.
Zhang L; Department of Oncology, University Children's Hospital Zurich, Zurich, Switzerland.
Benitez Brito R; Department of Oncology, University Children's Hospital Zurich, Zurich, Switzerland.
Benz R; Department of Internal Medicine, Division of Haematology, Cantonal Hospital Muensterlingen, Muensterlingen, Switzerland.
Müller R; Haematology Clinic, University Hospital Zurich, Zurich, Switzerland.
Bonadies N; Department of Haematology and Central Haematology Laboratory, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.
Tchinda J; Department of Oncology, University Children's Hospital Zurich, Zurich, Switzerland.
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Źródło :
British journal of haematology [Br J Haematol] 2019 Jan; Vol. 184 (2), pp. 282-287. Date of Electronic Publication: 2018 Jan 09.
Typ publikacji :
Letter
MeSH Terms :
Chromosome Aberrations*
Comparative Genomic Hybridization*
Oligonucleotide Array Sequence Analysis*
Myelodysplastic Syndromes/*genetics
Adult ; Aged ; Aged, 80 and over ; Female ; Humans ; Male ; Middle Aged ; Myelodysplastic Syndromes/pathology ; Myelodysplastic Syndromes/therapy
Opinia redakcyjna

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