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


Tytuł :
Interstitial chromosomal deletion of the tuberous sclerosis complex 2 locus is a signature for radiation-associated renal tumors in Eker rats.
Autorzy :
Inoue T; Department of Radiation Effects Research, National Institute of Radiological Sciences, National Institutes for Quantum and Radiological Science and Technology, Chiba, Japan.; Department of Radiology, Juntendo University Urayasu Hospital, Chiba, Japan.
Kokubo T; Laboratory Animal and Genome Sciences Section, National Institute of Radiological Sciences, National Institutes for Quantum and Radiological Science and Technology, Chiba, Japan.
Daino K; Department of Radiation Effects Research, National Institute of Radiological Sciences, National Institutes for Quantum and Radiological Science and Technology, Chiba, Japan.
Yanagihara H; Department of Radiation Effects Research, National Institute of Radiological Sciences, National Institutes for Quantum and Radiological Science and Technology, Chiba, Japan.
Watanabe F; Department of Radiation Effects Research, National Institute of Radiological Sciences, National Institutes for Quantum and Radiological Science and Technology, Chiba, Japan.
Tsuruoka C; Department of Radiation Effects Research, National Institute of Radiological Sciences, National Institutes for Quantum and Radiological Science and Technology, Chiba, Japan.
Amasaki Y; Department of Radiation Effects Research, National Institute of Radiological Sciences, National Institutes for Quantum and Radiological Science and Technology, Chiba, Japan.
Morioka T; Department of Radiation Effects Research, National Institute of Radiological Sciences, National Institutes for Quantum and Radiological Science and Technology, Chiba, Japan.
Homma-Takeda S; Department of Basic Medical Sciences for Radiation Damages, National Institute of Radiological Sciences, National Institutes for Quantum and Radiological Science and Technology, Chiba, Japan.
Kobayashi T; Department of Pathology and Oncology, Faculty of Medicine, Juntendo University, Tokyo, Japan.
Hino O; Department of Pathology and Oncology, Faculty of Medicine, Juntendo University, Tokyo, Japan.
Shimada Y; National Institutes for Quantum and Radiological Science and Technology, Chiba, Japan.
Kakinuma S; Department of Radiation Effects Research, National Institute of Radiological Sciences, National Institutes for Quantum and Radiological Science and Technology, Chiba, Japan.
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Źródło :
Cancer science [Cancer Sci] 2020 Mar; Vol. 111 (3), pp. 840-848. Date of Electronic Publication: 2020 Feb 03.
Typ publikacji :
Journal Article
MeSH Terms :
Kidney Neoplasms/*genetics
Tuberous Sclerosis/*genetics
Tuberous Sclerosis Complex 2 Protein/*genetics
Alleles ; Animals ; Chromosome Deletion ; Chromosomes, Human, Pair 10/genetics ; Comparative Genomic Hybridization/methods ; Gamma Rays/adverse effects ; Heterozygote ; Humans ; Male ; Mutation/genetics ; Rats ; Rats, Inbred F344 ; Rats, Long-Evans ; Risk ; Tumor Suppressor Proteins/genetics
SCR Disease Name :
Tuberous Sclerosis 2
Czasopismo naukowe
Tytuł :
The improved assembly of 7DL chromosome provides insight into the structure and evolution of bread wheat.
Autorzy :
Feng K; State Key Laboratory of Crop Stress Biology in Arid Areas, College of Agronomy and Yangling Branch of China Wheat Improvement Center, Northwest A&F University, Yangling, Shaanxi, China.
Cui L; State Key Laboratory of Crop Stress Biology in Arid Areas, College of Agronomy and Yangling Branch of China Wheat Improvement Center, Northwest A&F University, Yangling, Shaanxi, China.; College of Bioscience and Engineering, Jiangxi Agricultural University, Nanchang, Jiangxi, China.
Wang L; Department of Plant Sciences, University of California, Davis, CA, USA.
Shan D; BGI Genomics, BGI-Shenzhen, Shenzhen, China.
Tong W; State Key Laboratory of Crop Stress Biology in Arid Areas, College of Agronomy and Yangling Branch of China Wheat Improvement Center, Northwest A&F University, Yangling, Shaanxi, China.
Deng P; State Key Laboratory of Crop Stress Biology in Arid Areas, College of Agronomy and Yangling Branch of China Wheat Improvement Center, Northwest A&F University, Yangling, Shaanxi, China.
Yan Z; College of Horticulture and Forestry Sciences/Hubei Engineering Technology Research Center for Forestry Information, Huazhong Agricultural University, Wuhan, China.
Wang M; State Key Laboratory of Crop Stress Biology in Arid Areas, College of Agronomy and Yangling Branch of China Wheat Improvement Center, Northwest A&F University, Yangling, Shaanxi, China.
Zhan H; State Key Laboratory of Crop Stress Biology in Arid Areas, College of Agronomy and Yangling Branch of China Wheat Improvement Center, Northwest A&F University, Yangling, Shaanxi, China.
Wu X; State Key Laboratory of Crop Stress Biology in Arid Areas, College of Agronomy and Yangling Branch of China Wheat Improvement Center, Northwest A&F University, Yangling, Shaanxi, China.
He W; BGI Genomics, BGI-Shenzhen, Shenzhen, China.
Zhou X; BGI Genomics, BGI-Shenzhen, Shenzhen, China.
Ji J; BGI Genomics, BGI-Shenzhen, Shenzhen, China.
Zhang G; BGI Genomics, BGI-Shenzhen, Shenzhen, China.
Mao L; Key Laboratory of Crop Gene Resources and Germplasm Enhancement, Ministry of Agriculture, The National Key Facility for Crop Gene Resources and Genetic Improvement, Institute of Crop Sciences, Chinese Academy of Agricultural Sciences, Beijing, China.
Karafiátová M; Centre of the Region Haná for Biotechnological and Agricultural Research, Institute of Experimental Botany, Olomouc, Czech Republic.
Šimková H; Centre of the Region Haná for Biotechnological and Agricultural Research, Institute of Experimental Botany, Olomouc, Czech Republic.
Doležel J; Centre of the Region Haná for Biotechnological and Agricultural Research, Institute of Experimental Botany, Olomouc, Czech Republic.
Du X; State Key Laboratory of Crop Stress Biology in Arid Areas, College of Agronomy and Yangling Branch of China Wheat Improvement Center, Northwest A&F University, Yangling, Shaanxi, China.
Zhao S; BGI Institute of Applied Agriculture, BGI-Shenzhen, Shenzhen, China.
Luo MC; Department of Plant Sciences, University of California, Davis, CA, USA.
Han D; State Key Laboratory of Crop Stress Biology in Arid Areas, College of Agronomy and Yangling Branch of China Wheat Improvement Center, Northwest A&F University, Yangling, Shaanxi, China.
Zhang C; BGI Genomics, BGI-Shenzhen, Shenzhen, China.
Kang Z; State Key Laboratory of Crop Stress Biology for Arid Areas, College of Plant Protection, Northwest A&F University, Yangling, Shaanxi, China.
Appels R; State Agriculture Biotechnology Centre, School of Veterinary and Life Sciences, Australia Export Grains Innovation Centre, Murdoch University, Perth, WA, Australia.
Edwards D; School of Biological Sciences and Institute of Agriculture, The University of Western Australia, Perth, WA, Australia.
Nie X; State Key Laboratory of Crop Stress Biology in Arid Areas, College of Agronomy and Yangling Branch of China Wheat Improvement Center, Northwest A&F University, Yangling, Shaanxi, China.
Weining S; State Key Laboratory of Crop Stress Biology in Arid Areas, College of Agronomy and Yangling Branch of China Wheat Improvement Center, Northwest A&F University, Yangling, Shaanxi, China.
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Źródło :
Plant biotechnology journal [Plant Biotechnol J] 2020 Mar; Vol. 18 (3), pp. 732-742. Date of Electronic Publication: 2019 Sep 18.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Biological Evolution*
Genome, Plant*
Chromosomes, Plant/*genetics
Triticum/*genetics
Aegilops/genetics ; Comparative Genomic Hybridization ; Quantitative Trait Loci ; Synteny
Czasopismo naukowe
Tytuł :
Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease.
Autorzy :
Mortreux J; Département de génétique médicale, Hôpital Timone enfants, Assistance-Publique Hôpitaux de Marseille, Marseille, France.; Aix Marseille Univ, INSERM, MMG, U1251, Marseille, France.
Bacquet J; Département de génétique médicale, Hôpital Timone enfants, Assistance-Publique Hôpitaux de Marseille, Marseille, France.; Aix Marseille Univ, INSERM, MMG, U1251, Marseille, France.
Boyer A; Département de génétique médicale, Hôpital Timone enfants, Assistance-Publique Hôpitaux de Marseille, Marseille, France.
Alazard E; Département de génétique médicale, Hôpital Timone enfants, Assistance-Publique Hôpitaux de Marseille, Marseille, France.
Bellance R; Centre de référence Caribéen pour les maladies neuromusculaires, CeRCa, Hôpital Pierre-Zobda-Quitman, CHU de Martinique, France.
Giguet-Valard AG; Centre de référence Caribéen pour les maladies neuromusculaires, CeRCa, Hôpital Pierre-Zobda-Quitman, CHU de Martinique, France.
Cerino M; Département de génétique médicale, Hôpital Timone enfants, Assistance-Publique Hôpitaux de Marseille, Marseille, France.; Aix Marseille Univ, INSERM, MMG, U1251, Marseille, France.
Krahn M; Département de génétique médicale, Hôpital Timone enfants, Assistance-Publique Hôpitaux de Marseille, Marseille, France.; Aix Marseille Univ, INSERM, MMG, U1251, Marseille, France.
Audic F; Centre de référence des maladies neuromusculaires, Hôpital de la Timone enfant, Assistance-Publique Hôpitaux de Marseille, Marseille, France.
Chabrol B; Centre de référence des maladies neuromusculaires, Hôpital de la Timone enfant, Assistance-Publique Hôpitaux de Marseille, Marseille, France.
Laugel V; Centre de référence des maladies neuromusculaires, Service de pédiatrie, CHU Strasbourg, France.
Desvignes JP; Aix Marseille Univ, INSERM, MMG, U1251, Marseille, France.
Béroud C; Département de génétique médicale, Hôpital Timone enfants, Assistance-Publique Hôpitaux de Marseille, Marseille, France.; Aix Marseille Univ, INSERM, MMG, U1251, Marseille, France.
Nguyen K; Département de génétique médicale, Hôpital Timone enfants, Assistance-Publique Hôpitaux de Marseille, Marseille, France.; Aix Marseille Univ, INSERM, MMG, U1251, Marseille, France.
Verschueren A; Centre de référence des maladies neuromusculaires, Hôpital de la Timone Adulte, Assistance-Publique Hôpitaux de Marseille, Marseille, France.
Lévy N; Département de génétique médicale, Hôpital Timone enfants, Assistance-Publique Hôpitaux de Marseille, Marseille, France.; Aix Marseille Univ, INSERM, MMG, U1251, Marseille, France.
Attarian S; Centre de référence des maladies neuromusculaires, Hôpital de la Timone Adulte, Assistance-Publique Hôpitaux de Marseille, Marseille, France.
Delague V; Aix Marseille Univ, INSERM, MMG, U1251, Marseille, France.
Missirian C; Département de génétique médicale, Hôpital Timone enfants, Assistance-Publique Hôpitaux de Marseille, Marseille, France.; Aix Marseille Univ, INSERM, MMG, U1251, Marseille, France.
Bonello-Palot N; Département de génétique médicale, Hôpital Timone enfants, Assistance-Publique Hôpitaux de Marseille, Marseille, France. .; Aix Marseille Univ, INSERM, MMG, U1251, Marseille, France. .
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Źródło :
Journal of human genetics [J Hum Genet] 2020 Mar; Vol. 65 (3), pp. 313-323. Date of Electronic Publication: 2019 Dec 18.
Typ publikacji :
Journal Article
MeSH Terms :
Charcot-Marie-Tooth Disease/*genetics
Cytoskeletal Proteins/*genetics
Microfilament Proteins/*genetics
Nerve Tissue Proteins/*genetics
Ubiquitin-Protein Ligases/*genetics
Adolescent ; Adult ; Charcot-Marie-Tooth Disease/pathology ; Child ; Child, Preschool ; Comparative Genomic Hybridization ; DNA Copy Number Variations/genetics ; Exome/genetics ; Female ; Genetic Predisposition to Disease/genetics ; High-Throughput Nucleotide Sequencing ; Humans ; Male ; Middle Aged ; Mutation/genetics ; Phenotype ; Whole Exome Sequencing ; Young Adult
Czasopismo naukowe
Tytuł :
Comparative Genomics Screen Identifies Microbe-Associated Molecular Patterns from ' Candidatus Liberibacter' spp. That Elicit Immune Responses in Plants.
Autorzy :
Chen Y; Plant Gene Expression Center, United States Department of Agriculture-Agricultural Research Service and Department of Plant and Microbial Biology, University of California-Berkeley, 800 Buchanan Street, Albany, CA 94710, U.S.A.
Bendix C; Plant Gene Expression Center, United States Department of Agriculture-Agricultural Research Service and Department of Plant and Microbial Biology, University of California-Berkeley, 800 Buchanan Street, Albany, CA 94710, U.S.A.
Lewis JD; Plant Gene Expression Center, United States Department of Agriculture-Agricultural Research Service and Department of Plant and Microbial Biology, University of California-Berkeley, 800 Buchanan Street, Albany, CA 94710, U.S.A.
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Źródło :
Molecular plant-microbe interactions : MPMI [Mol Plant Microbe Interact] 2020 Mar; Vol. 33 (3), pp. 539-552. Date of Electronic Publication: 2020 Jan 17.
Typ publikacji :
Journal Article
MeSH Terms :
Plant Immunity*
Citrus/*immunology
Plant Diseases/*immunology
Rhizobiaceae/*pathogenicity
Citrus/microbiology ; Comparative Genomic Hybridization ; Phloem ; Plant Diseases/microbiology
Czasopismo naukowe
Tytuł :
[Detection of the Cytogenetic Aberrations in Multiple Myeloma by Using Microrray Comparative Genomic Hybridization].
Autorzy :
Wang YF; Department of Hematology, Peking University Third Hospital, Beijing 100191, China.
Wang H; Department of Hematology, Peking University Third Hospital, Beijing 100191, China.
Xi LY; Department of Hematology, Peking University Third Hospital, Beijing 100191, China.
Zhang ZH; Department of Hematology, Peking University Third Hospital, Beijing 100191, China.
Wang J; Department of Hematology, Peking University Third Hospital, Beijing 100191, China.
Dong F; Department of Hematology, Peking University Third Hospital, Beijing 100191, China.
Ke XY; Department of Hematology, Peking University Third Hospital, Beijing 100191, China.E-mail: .
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Źródło :
Zhongguo shi yan xue ye xue za zhi [Zhongguo Shi Yan Xue Ye Xue Za Zhi] 2018 Oct; Vol. 26 (5), pp. 1389-1395.
Typ publikacji :
Journal Article
MeSH Terms :
Comparative Genomic Hybridization*
Multiple Myeloma*
Chromosome Aberrations ; Humans ; In Situ Hybridization, Fluorescence
Czasopismo naukowe
Tytuł :
[Intellectual disability: contribution of genetic studies to the etiological diagnosis].
Autorzy :
Jouan-Flahault C; Unité de psychiatrie du développement mental, Service des spécialités psychiatriques, Département de santé mentale et de psychiatrie, HUG, 1211 Genève 14.
Kosel M; Unité de psychiatrie du développement mental, Service des spécialités psychiatriques, Département de santé mentale et de psychiatrie, HUG, 1211 Genève 14.
Abramowicz M; Service de médecine génétique, Département de médecine génétique, de laboratoire et de pathologie, HUG, 1211 Genève 14.
Paoloni-Giacobino A; Service de médecine génétique, Département de médecine génétique, de laboratoire et de pathologie, HUG, 1211 Genève 14.
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Transliterated Title :
Handicap intellectuel : apport de la génétique pour le diagnostic étiologique.
Źródło :
Revue medicale suisse [Rev Med Suisse] 2018 Sep 19; Vol. 14 (619), pp. 1666-1669.
Typ publikacji :
Journal Article
MeSH Terms :
Chromosome Aberrations*
Comparative Genomic Hybridization*
Intellectual Disability*/genetics
Genetic Counseling ; High-Throughput Nucleotide Sequencing ; Humans
Czasopismo naukowe
Tytuł :
Novel applications of array comparative genomic hybridization in molecular diagnostics.
Autorzy :
Cheung SW; a Department of Molecular and Human Genetics , Baylor College of Medicine , Houston , TX , USA.
Bi W; a Department of Molecular and Human Genetics , Baylor College of Medicine , Houston , TX , USA.; b Baylor Genetics , Houston , TX , USA.
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Źródło :
Expert review of molecular diagnostics [Expert Rev Mol Diagn] 2018 Jun; Vol. 18 (6), pp. 531-542. Date of Electronic Publication: 2018 May 31.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Comparative Genomic Hybridization*/instrumentation
Comparative Genomic Hybridization*/methods
DNA Copy Number Variations*
Genome-Wide Association Study*/instrumentation
Genome-Wide Association Study*/methods
Oligonucleotide Array Sequence Analysis*/instrumentation
Oligonucleotide Array Sequence Analysis*/methods
Pathology, Molecular*/instrumentation
Pathology, Molecular*/methods
Polymorphism, Single Nucleotide*
Animals ; Humans
Czasopismo naukowe
Tytuł :
Molecular cytogenetic pilot study on pleomorphic adenomas of salivary glands.
Autorzy :
Thielker, Jovanna (AUTHOR)
Weise, Anja (AUTHOR)
Othman, Moneeb A.K. (AUTHOR)
Carreria, Isabel M. (AUTHOR)
Melo, Joana B. (AUTHOR)
Von Eggeling, Ferdinand (AUTHOR)
Guntinas-Lichius, Orlando (AUTHOR)
Ziegler, Monika (AUTHOR)
Liehr, Thomas (AUTHOR)
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Źródło :
Oncology Letters. Feb2020, Vol. 19 Issue 2, p1125-1130. 6p.
Czasopismo naukowe
Tytuł :
Chromatin remodeling dysfunction extends the etiological spectrum of schizophrenia: a case report.
Autorzy :
Poisson, Alice (AUTHOR)
Chatron, Nicolas (AUTHOR)
Labalme, Audrey (AUTHOR)
Fourneret, Pierre (AUTHOR)
Ville, Dorothée (AUTHOR)
Mathieu, Marie Laure (AUTHOR)
Sanlaville, Damien (AUTHOR)
Demily, Caroline (AUTHOR)
Lesca, Gaëtan (AUTHOR)
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Źródło :
BMC Medical Genetics. 1/8/2020, Vol. 21 Issue 1, p1-6. 6p.
Czasopismo naukowe
Tytuł :
Genetic Analysis of Circulating Tumour Cells.
Autorzy :
Kolinsky MP; The Institute of Cancer Research, The Royal Marsden NHS Foundation Trust, Downs Road, Sutton, Surrey, SM2 5PT, UK.; Cross Cancer Institute, 11560 University Avenue, Edmonton, AB, T61Z2, Canada.
Stoecklein N; University of Düsseldorf, Moorenstr. 5, Düsseldorf, 40225, Germany.
Lambros M; The Institute of Cancer Research, The Royal Marsden NHS Foundation Trust, Downs Road, Sutton, Surrey, SM2 5PT, UK.
Gil V; The Institute of Cancer Research, The Royal Marsden NHS Foundation Trust, Downs Road, Sutton, Surrey, SM2 5PT, UK.
Rodrigues DN; The Institute of Cancer Research, The Royal Marsden NHS Foundation Trust, Downs Road, Sutton, Surrey, SM2 5PT, UK.
Carreira S; The Institute of Cancer Research, The Royal Marsden NHS Foundation Trust, Downs Road, Sutton, Surrey, SM2 5PT, UK.
Zafeiriou Z; The Institute of Cancer Research, The Royal Marsden NHS Foundation Trust, Downs Road, Sutton, Surrey, SM2 5PT, UK.
de Bono JS; The Institute of Cancer Research, The Royal Marsden NHS Foundation Trust, Downs Road, Sutton, Surrey, SM2 5PT, UK. .
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Źródło :
Recent results in cancer research. Fortschritte der Krebsforschung. Progres dans les recherches sur le cancer [Recent Results Cancer Res] 2020; Vol. 215, pp. 57-76.
Typ publikacji :
Journal Article
MeSH Terms :
DNA Mutational Analysis*
Neoplastic Cells, Circulating*/metabolism
Neoplasms/*genetics
Neoplasms/*pathology
Comparative Genomic Hybridization ; High-Throughput Nucleotide Sequencing ; Humans ; In Situ Hybridization, Fluorescence ; Neoplasms/blood ; Prognosis
Czasopismo naukowe
Tytuł :
Defining the limits of detection for chromosome rearrangements in the preimplantation embryo using next generation sequencing.
Autorzy :
Cuman C; Monash IVF, 1/152 Clayton Rd, Clayton, Victoria, Australia.
Beyer CE; Monash IVF, 1/152 Clayton Rd, Clayton, Victoria, Australia.
Brodie D; Monash IVF, 1/152 Clayton Rd, Clayton, Victoria, Australia.
Fullston T; Repromed, 180 Fullarton Road, Dulwich, South Australia, Australia.
Lin JI; Monash IVF, 1/152 Clayton Rd, Clayton, Victoria, Australia.
Willats E; Monash IVF, 1/152 Clayton Rd, Clayton, Victoria, Australia.
Zander-Fox D; Repromed, 180 Fullarton Road, Dulwich, South Australia, Australia.
Mullen J; Monash IVF, 1/152 Clayton Rd, Clayton, Victoria, Australia.
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Źródło :
Human reproduction (Oxford, England) [Hum Reprod] 2018 Aug 01; Vol. 33 (8), pp. 1566-1576.
Typ publikacji :
Comparative Study; Journal Article; Multicenter Study
MeSH Terms :
Chromosome Aberrations*
Comparative Genomic Hybridization*/standards
Genetic Testing*/standards
High-Throughput Nucleotide Sequencing*/standards
Preimplantation Diagnosis/*methods
Reproductive Techniques, Assisted/*adverse effects
Female ; Humans ; Limit of Detection ; Predictive Value of Tests ; Pregnancy ; Preimplantation Diagnosis/standards ; Reproducibility of Results ; Retrospective Studies ; South Australia ; Victoria
Czasopismo naukowe
Tytuł :
Molecular characterization of a series of 990 index patients with albinism.
Autorzy :
Lasseaux E; Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France.
Plaisant C; Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France.
Michaud V; Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France.
Pennamen P; Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France.; INSERM U1211, Maladies Rares, Génétique et Métabolisme, Université de Bordeaux, Bordeaux, France.
Trimouille A; Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France.; INSERM U1211, Maladies Rares, Génétique et Métabolisme, Université de Bordeaux, Bordeaux, France.
Gaston L; Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France.
Monfermé S; Service d'Ophtalmologie, CHU de Bordeaux, Bordeaux, France.
Lacombe D; Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France.; INSERM U1211, Maladies Rares, Génétique et Métabolisme, Université de Bordeaux, Bordeaux, France.
Rooryck C; Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France.; INSERM U1211, Maladies Rares, Génétique et Métabolisme, Université de Bordeaux, Bordeaux, France.
Morice-Picard F; Service de Dermatologie, CHU de Bordeaux, Bordeaux, France.
Arveiler B; Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France.; INSERM U1211, Maladies Rares, Génétique et Métabolisme, Université de Bordeaux, Bordeaux, France.
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Źródło :
Pigment cell & melanoma research [Pigment Cell Melanoma Res] 2018 Jul; Vol. 31 (4), pp. 466-474. Date of Electronic Publication: 2018 Feb 14.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Alleles*
Comparative Genomic Hybridization*
Gene Rearrangement*
High-Throughput Nucleotide Sequencing*
Molecular Diagnostic Techniques*
Albinism/*diagnosis
Albinism/*genetics
Female ; Humans ; Male
Czasopismo naukowe
Tytuł :
Chromosomal analysis in IVF: just how useful is it?
Autorzy :
Griffin DK; School of BiosciencesCentre for Interdisciplinary Studies of Reproduction, University of Kent, Canterbury, UK .
Ogur C; Bahceci Genetic Diagnosis Centerİstanbul, Turkey.; Department of BioengineeringYildiz Technical University, İstanbul, Turkey.
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Źródło :
Reproduction (Cambridge, England) [Reproduction] 2018 Jul; Vol. 156 (1), pp. F29-F50.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Comparative Genomic Hybridization*
Fertilization in Vitro*
Preimplantation Diagnosis*
Adult ; Embryo Culture Techniques ; Female ; Humans ; Karyotyping ; Mosaicism ; Pregnancy
Czasopismo naukowe
Tytuł :
Comparative genomic analysis of oral versus laryngeal and pharyngeal cancer.
Autorzy :
Vossen DM; Division of Cell Biology, The Netherlands Cancer Institute, Amsterdam, The Netherlands; Department of Head and Neck Oncology and Surgery, The Netherlands Cancer Institute, Amsterdam, The Netherlands.
Verhagen CVM; Division of Cell Biology, The Netherlands Cancer Institute, Amsterdam, The Netherlands; Department of Head and Neck Oncology and Surgery, The Netherlands Cancer Institute, Amsterdam, The Netherlands.
Verheij M; Division of Cell Biology, The Netherlands Cancer Institute, Amsterdam, The Netherlands; Department of Radiation Oncology, The Netherlands Cancer Institute, Amsterdam, The Netherlands.
Wessels LFA; Division of Molecular Carcinogenesis, The Netherlands Cancer Institute, Amsterdam, The Netherlands; Department of EEMCS, Delft University of Technology, Delft, The Netherlands.
Vens C; Division of Cell Biology, The Netherlands Cancer Institute, Amsterdam, The Netherlands; Department of Radiation Oncology, The Netherlands Cancer Institute, Amsterdam, The Netherlands. Electronic address: .
van den Brekel MWM; Department of Head and Neck Oncology and Surgery, The Netherlands Cancer Institute, Amsterdam, The Netherlands; Institute of Phonetic Sciences, University of Amsterdam, Amsterdam, The Netherlands; Department of Oral and Maxillofacial Surgery, Academic Medical Center, Amsterdam, The Netherlands. Electronic address: .
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Źródło :
Oral oncology [Oral Oncol] 2018 Jun; Vol. 81, pp. 35-44. Date of Electronic Publication: 2018 Apr 13.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Comparative Genomic Hybridization*
Carcinoma, Squamous Cell/*genetics
Laryngeal Neoplasms/*genetics
Mouth Neoplasms/*genetics
Pharyngeal Neoplasms/*genetics
Aged ; Caspase 8/genetics ; Female ; Genes, ras ; Humans ; Male ; Middle Aged ; Point Mutation ; Retrospective Studies
Czasopismo naukowe
Tytuł :
Next generation sequencing for preimplantation genetic screening improves pregnancy outcomes compared with array comparative genomic hybridization in single thawed euploid embryo transfer cycles.
Autorzy :
Friedenthal J; New York University Langone Fertility Center, New York, New York. Electronic address: .
Maxwell SM; New York University Langone Fertility Center, New York, New York.
Munné S; Cooper Genomics, Livingston, New Jersey.
Kramer Y; New York University Langone Fertility Center, New York, New York.
McCulloh DH; New York University Langone Fertility Center, New York, New York.
McCaffrey C; New York University Langone Fertility Center, New York, New York.
Grifo JA; New York University Langone Fertility Center, New York, New York.
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Źródło :
Fertility and sterility [Fertil Steril] 2018 Apr; Vol. 109 (4), pp. 627-632. Date of Electronic Publication: 2018 Mar 28.
Typ publikacji :
Comparative Study; Journal Article
MeSH Terms :
Comparative Genomic Hybridization*
Cryopreservation*
Fertilization in Vitro*/adverse effects
High-Throughput Nucleotide Sequencing*
Single Embryo Transfer*/adverse effects
Blastocyst/*pathology
Genetic Testing/*methods
Infertility/*therapy
Preimplantation Diagnosis/*methods
Abortion, Spontaneous/etiology ; Abortion, Spontaneous/genetics ; Adult ; Embryo Implantation ; Female ; Fertility ; Humans ; Infertility/diagnosis ; Infertility/genetics ; Infertility/physiopathology ; Live Birth ; Mosaicism ; Predictive Value of Tests ; Pregnancy ; Pregnancy Outcome ; Reproducibility of Results ; Retrospective Studies ; Treatment Outcome
Czasopismo naukowe
Tytuł :
Next generation sequencing for preimplantation genetic testing for aneuploidy: friend or foe?
Autorzy :
Fragouli E; IVI RMA Global; and Department of Obstetrics and Gynaecology, University of Oxford, Nuffield, John Radcliffe Hospital, Oxford, United Kingdom.
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Źródło :
Fertility and sterility [Fertil Steril] 2018 Apr; Vol. 109 (4), pp. 606-607.
Typ publikacji :
Editorial; Comment
MeSH Terms :
Comparative Genomic Hybridization*
High-Throughput Nucleotide Sequencing*
Aneuploidy ; Female ; Genetic Testing ; Humans ; Pregnancy ; Pregnancy Outcome ; Preimplantation Diagnosis
Opinia redakcyjna
Tytuł :
Array-comparative genomic hybridization analysis in patients with Müllerian fusion anomalies.
Autorzy :
Ledig S; Institute of Human Genetics, Westfälische Wilhelms-Universität Münster (WWU), Münster, Germany.
Tewes AC; Institute of Human Genetics, Westfälische Wilhelms-Universität Münster (WWU), Münster, Germany.
Hucke J; Department of Obstetrics and Gynecology, Agaplesion Bethesda Krankenhaus, Wuppertal, Germany.
Römer T; Department of Obstetrics and Gynecology, Evangelisches Krankenhaus Köln-Weyertal, Köln-Weyertal, Germany.
Kapczuk K; Division of Gynecology, Poznan University of Medical Sciences, Poznan, Poland.
Schippert C; Department of Obstetrics and Gynecology, Medical School Hannover, Hannover, Germany.
Hillemanns P; Department of Obstetrics and Gynecology, Medical School Hannover, Hannover, Germany.
Wieacker P; Institute of Human Genetics, Westfälische Wilhelms-Universität Münster (WWU), Münster, Germany.
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Źródło :
Clinical genetics [Clin Genet] 2018 Mar; Vol. 93 (3), pp. 640-646. Date of Electronic Publication: 2018 Feb 05.
Typ publikacji :
Journal Article
MeSH Terms :
Comparative Genomic Hybridization*/methods
Genetic Association Studies*/methods
Genetic Predisposition to Disease*
46, XX Disorders of Sex Development/*diagnosis
46, XX Disorders of Sex Development/*genetics
Congenital Abnormalities/*diagnosis
Congenital Abnormalities/*genetics
Mullerian Ducts/*abnormalities
Female ; Genetic Markers ; Genetic Variation ; Humans ; Magnetic Resonance Imaging ; Phenotype
SCR Disease Name :
Mullerian aplasia
Czasopismo naukowe
Tytuł :
Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia.
Autorzy :
Dahl S; Department of Women's and Children's Health, Neuropediatric Unit, Karolinska Institutet, Stockholm, Sweden.
Pettersson M; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
Eisfeldt J; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Science for Life Laboratory, Karolinska Institutet Science Park, Stockholm, Sweden.
Schröder AK; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
Wickström R; Department of Women's and Children's Health, Neuropediatric Unit, Karolinska Institutet, Stockholm, Sweden.
Teär Fahnehjelm K; Department of Paediatric Ophthalmology, St. Erik Eye Hospital, Stockholm, Sweden.; Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.
Anderlid BM; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Lindstrand A; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
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Źródło :
PloS one [PLoS One] 2020 Feb 10; Vol. 15 (2), pp. e0228622. Date of Electronic Publication: 2020 Feb 10 (Print Publication: 2020).
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Genetic Heterogeneity*
Optic Nerve/*pathology
Optic Nerve Hypoplasia/*genetics
Adolescent ; Adult ; Child ; Comparative Genomic Hybridization ; Cross-Sectional Studies ; Exons ; Female ; Genetic Testing ; Genome, Human ; Heterozygote ; Humans ; Male ; Optic Nerve/diagnostic imaging ; Pedigree ; Phenotype ; Polymorphism, Single Nucleotide ; Retinal Ganglion Cells/pathology ; SOXD Transcription Factors/genetics ; Sweden/epidemiology ; Whole Genome Sequencing ; Young Adult
Czasopismo naukowe
Tytuł :
Neuronal migration genes and a familial translocation t (3;17): candidate genes implicated in the phenotype.
Autorzy :
Hadj Amor M; Department of Human Cytogenetics, Molecular Genetics and Reproductive Biology Farhat Hached University Teaching Hospital, Ibn El Jazzar street, 4000, Sousse, Tunisia.; High Institute of Biotechnology, Monastir University, 5000, Monastir, Tunisia.
Dimassi S; Department of Human Cytogenetics, Molecular Genetics and Reproductive Biology Farhat Hached University Teaching Hospital, Ibn El Jazzar street, 4000, Sousse, Tunisia.; Common Service Units for Research in Genetics, Faculty of Medicine of Sousse, University of Sousse, Ibn El Jazzar street, 4000, Sousse, Tunisia.
Taj A; Pediatric department, Farhat Hached University Teaching Hospital, Ibn El Jazzar street, 4000, Sousse, Tunisia.
Slimani W; Department of Human Cytogenetics, Molecular Genetics and Reproductive Biology Farhat Hached University Teaching Hospital, Ibn El Jazzar street, 4000, Sousse, Tunisia.; High Institute of Biotechnology, Monastir University, 5000, Monastir, Tunisia.
Hannachi H; Department of Human Cytogenetics, Molecular Genetics and Reproductive Biology Farhat Hached University Teaching Hospital, Ibn El Jazzar street, 4000, Sousse, Tunisia.
Mlika A; Pediatric department, Farhat Hached University Teaching Hospital, Ibn El Jazzar street, 4000, Sousse, Tunisia.
Ben Helel K; Pediatric department, Ibn Jazzar University Teaching Hospital, Ibn El Jazzar Street, 3100, Kairouan, Tunisia.
Saad A; Department of Human Cytogenetics, Molecular Genetics and Reproductive Biology Farhat Hached University Teaching Hospital, Ibn El Jazzar street, 4000, Sousse, Tunisia.; Common Service Units for Research in Genetics, Faculty of Medicine of Sousse, University of Sousse, Ibn El Jazzar street, 4000, Sousse, Tunisia.
Mougou-Zerelli S; Department of Human Cytogenetics, Molecular Genetics and Reproductive Biology Farhat Hached University Teaching Hospital, Ibn El Jazzar street, 4000, Sousse, Tunisia. .; Common Service Units for Research in Genetics, Faculty of Medicine of Sousse, University of Sousse, Ibn El Jazzar street, 4000, Sousse, Tunisia. .
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Źródło :
BMC medical genetics [BMC Med Genet] 2020 Feb 06; Vol. 21 (1), pp. 26. Date of Electronic Publication: 2020 Feb 06.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Classical Lissencephalies and Subcortical Band Heterotopias/*genetics
Lissencephaly/*genetics
Neurons/*pathology
Translocation, Genetic/*genetics
1-Alkyl-2-acetylglycerophosphocholine Esterase/genetics ; 14-3-3 Proteins/genetics ; Cell Adhesion Molecules/genetics ; Cell Movement/genetics ; Child, Preschool ; Chromosome Deletion ; Chromosomes, Human, Pair 17/genetics ; Chromosomes, Human, Pair 3/genetics ; Classical Lissencephalies and Subcortical Band Heterotopias/diagnosis ; Classical Lissencephalies and Subcortical Band Heterotopias/physiopathology ; Comparative Genomic Hybridization ; Contactins/genetics ; Female ; Gene Dosage/genetics ; Genetic Association Studies ; Humans ; In Situ Hybridization, Fluorescence ; Lissencephaly/diagnosis ; Lissencephaly/physiopathology ; Meiosis/genetics ; Microtubule-Associated Proteins/genetics ; Neurons/metabolism ; Phenotype ; Trisomy/genetics
SCR Disease Name :
Chromosome 17, trisomy 17p; Chromosome 3, monosomy 3p
Czasopismo naukowe

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