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Tytuł :
Karyotyping Dasypyrum breviaristatum chromosomes with multiple oligonucleotide probes reveals the genomic divergence in Dasypyrum .
Autorzy :
Yu Z; Center for Informational Biology, School of Life Science and Technology, University of Electronic and Technology of China, Chengdu 611731, China.; Center for Informational Biology, School of Life Science and Technology, University of Electronic and Technology of China, Chengdu 611731, China.
Wang H; Center for Informational Biology, School of Life Science and Technology, University of Electronic and Technology of China, Chengdu 611731, China.; Center for Informational Biology, School of Life Science and Technology, University of Electronic and Technology of China, Chengdu 611731, China.
Jiang W; Center for Informational Biology, School of Life Science and Technology, University of Electronic and Technology of China, Chengdu 611731, China.; Center for Informational Biology, School of Life Science and Technology, University of Electronic and Technology of China, Chengdu 611731, China.
Jiang C; Center for Informational Biology, School of Life Science and Technology, University of Electronic and Technology of China, Chengdu 611731, China.; Center for Informational Biology, School of Life Science and Technology, University of Electronic and Technology of China, Chengdu 611731, China.
Yuan W; Center for Informational Biology, School of Life Science and Technology, University of Electronic and Technology of China, Chengdu 611731, China.; Center for Informational Biology, School of Life Science and Technology, University of Electronic and Technology of China, Chengdu 611731, China.
Li G; Center for Informational Biology, School of Life Science and Technology, University of Electronic and Technology of China, Chengdu 611731, China.; Center for Informational Biology, School of Life Science and Technology, University of Electronic and Technology of China, Chengdu 611731, China.
Yang Z; Center for Informational Biology, School of Life Science and Technology, University of Electronic and Technology of China, Chengdu 611731, China.; Center for Informational Biology, School of Life Science and Technology, University of Electronic and Technology of China, Chengdu 611731, China.
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Źródło :
Genome [Genome] 2021 Aug; Vol. 64 (8), pp. 789-800. Date of Electronic Publication: 2021 Jan 29.
Typ publikacji :
Journal Article
MeSH Terms :
Karyotyping*
Plant Breeding*
Poaceae*/genetics
Chromosomes, Plant/genetics ; Genomics ; In Situ Hybridization, Fluorescence ; Oligonucleotide Probes ; Triticum/genetics
Czasopismo naukowe
Tytuł :
Molecular Cytogenetics Reveals Mosaicism in Human Umbilical Vein Endothelial Cells.
Autorzy :
Binz RL; Division of Radiation Health, Department of Pharmaceutical Sciences, College of Pharmacy, University of Arkansas for Medical Sciences, Little Rock, AR 72205, USA.
Pathak R; Division of Radiation Health, Department of Pharmaceutical Sciences, College of Pharmacy, University of Arkansas for Medical Sciences, Little Rock, AR 72205, USA.
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Źródło :
Genes [Genes (Basel)] 2022 Jun 03; Vol. 13 (6). Date of Electronic Publication: 2022 Jun 03.
Typ publikacji :
Journal Article
MeSH Terms :
Mosaicism*
Cytogenetics ; Female ; Human Umbilical Vein Endothelial Cells ; Humans ; In Situ Hybridization, Fluorescence/methods ; Karyotyping
Czasopismo naukowe
Tytuł :
Optical genome mapping for structural variation analysis in hematologic malignancies.
Autorzy :
Smith AC; Laboratory Medicine Program, University Health Network, Toronto, Ontario, Canada.; The Department of Laboratory Medicine and Pathobiology, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.
Neveling K; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Kanagal-Shamanna R; Department of Hematopathology and Molecular Diagnostics, The University of Texas MD Anderson Cancer Center, Houston, Texas, USA.
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Źródło :
American journal of hematology [Am J Hematol] 2022 Jul; Vol. 97 (7), pp. 975-982. Date of Electronic Publication: 2022 May 20.
Typ publikacji :
Journal Article
MeSH Terms :
Hematologic Neoplasms*/genetics
Myelodysplastic Syndromes*/genetics
Chromosome Aberrations ; Chromosome Mapping ; Humans ; In Situ Hybridization, Fluorescence/methods ; Karyotyping
Czasopismo naukowe
Tytuł :
A microscopy investigation of the complex problem of infertility of insect hybrids. Studies on the reproductive systems, eggshells, and karyotypes of the representatives of the genus Platymeris (Heteroptera, Reduviidae) and their hybrids.
Autorzy :
Bugaj-Nawrocka A; Institute of Biology, Biotechnology and Environmental Protection, Faculty of Natural Sciences, University of Silesia in Katowice, Poland.
Chajec Ł; Institute of Biology, Biotechnology and Environmental Protection, Faculty of Natural Sciences, University of Silesia in Katowice, Poland.
Urbisz AZ; Institute of Biology, Biotechnology and Environmental Protection, Faculty of Natural Sciences, University of Silesia in Katowice, Poland.
Chłond D; Institute of Biology, Biotechnology and Environmental Protection, Faculty of Natural Sciences, University of Silesia in Katowice, Poland. Electronic address: .
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Źródło :
Micron (Oxford, England : 1993) [Micron] 2022 Jul; Vol. 158, pp. 103248. Date of Electronic Publication: 2022 Mar 26.
Typ publikacji :
Journal Article
MeSH Terms :
Infertility*/genetics
Reduviidae*/genetics
Animals ; Egg Shell ; Genitalia ; Karyotype ; Karyotyping ; Male ; Microscopy
Czasopismo naukowe
Tytuł :
Clinical implications of mosaicism: a 10-year retrospective review of 83 families in a university-affiliated genetics clinic.
Autorzy :
Lee M; School of Clinical Medicine, Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong SAR, China.
Lui ACY
Mak CCY
Tsang MHY
Fung JLF
Yeung KS
Chung BHY
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Źródło :
Clinical dysmorphology [Clin Dysmorphol] 2022 Jul 01; Vol. 31 (3), pp. 113-124. Date of Electronic Publication: 2022 Mar 07.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Genetic Testing*/methods
Mosaicism*
Female ; Humans ; Karyotyping ; Pregnancy ; Retrospective Studies ; Universities
Czasopismo naukowe
Tytuł :
Comparative cytogenetics of three economically important Piper L. species from the Brazilian Amazon.
Autorzy :
Soares NR; Departamento de Biologia, Instituto de Ciências Naturais, Universidade Federal de Lavas, Lavras, Minas Gerais, Brazil.
Correa CTR; Departamento de Biologia, Instituto de Ciências Naturais, Universidade Federal de Lavas, Lavras, Minas Gerais, Brazil.
da Silva JC; Departamento de Biologia, Instituto de Ciências Naturais, Universidade Federal de Lavas, Lavras, Minas Gerais, Brazil.
da Silva Negreiros JR; Embrapa Acre, Rio Branco, Acre, Brazil.
Techio VH; Departamento de Biologia, Instituto de Ciências Naturais, Universidade Federal de Lavas, Lavras, Minas Gerais, Brazil.
Torres GA; Departamento de Biologia, Instituto de Ciências Naturais, Universidade Federal de Lavas, Lavras, Minas Gerais, Brazil. .
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Źródło :
Protoplasma [Protoplasma] 2022 Jul; Vol. 259 (4), pp. 1099-1108. Date of Electronic Publication: 2021 Nov 11.
Typ publikacji :
Journal Article
MeSH Terms :
Piper*/chemistry
Piper*/genetics
Brazil ; DNA, Ribosomal/genetics ; Karyotyping ; Plant Breeding ; Safrole
Czasopismo naukowe
Tytuł :
Retrospective Study of Three Cases of Congenital Leukemia with Clinical Presentations and Particular Cytogenetic Abnormality.
Autorzy :
Yang R
Chi C
Chen J
Lv Z
Wang J
Huang H
Guo W
Zhou X
Liu L
Li Q
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Źródło :
Clinical laboratory [Clin Lab] 2022 Jun 01; Vol. 68 (6).
Typ publikacji :
Case Reports
MeSH Terms :
Leukemia, Myeloid, Acute*/genetics
Myeloid-Lymphoid Leukemia Protein*/genetics
Chromosome Aberrations ; Humans ; Infant, Newborn ; Karyotyping ; Retrospective Studies
Raport
Tytuł :
RNAseqCNV: analysis of large-scale copy number variations from RNA-seq data.
Autorzy :
Bařinka J; Childhood Leukemia Investigation Prague (CLIP), 2nd Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic.
Hu Z; Department of Computational and Quantitative Medicine & Systems Biology, Beckman Research Institute of City of Hope, Duarte, CA, 91010, USA.
Wang L; Department of Pathology, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA.
Wheeler DA; Department of Computational Biology, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA.
Rahbarinia D; Department of Computational Biology, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA.
McLeod C; Department of Computational Biology, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA.
Gu Z; Department of Computational and Quantitative Medicine & Systems Biology, Beckman Research Institute of City of Hope, Duarte, CA, 91010, USA. .
Mullighan CG; Department of Pathology, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA. .
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Źródło :
Leukemia [Leukemia] 2022 Jun; Vol. 36 (6), pp. 1492-1498. Date of Electronic Publication: 2022 Mar 29.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
MeSH Terms :
DNA Copy Number Variations*/genetics
High-Throughput Nucleotide Sequencing*/methods
Algorithms ; Humans ; Karyotyping ; RNA-Seq
Czasopismo naukowe
Tytuł :
Pseudo-Roberts Syndrome: An Entity or Not?
Autorzy :
Salari B; Department of Pathology and Immunology, Washington University in St. Louis, St. Louis, Missouri, USA.
Dehner LP; Department of Pathology and Immunology, Washington University in St. Louis, St. Louis, Missouri, USA.
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Źródło :
Fetal and pediatric pathology [Fetal Pediatr Pathol] 2022 Jun; Vol. 41 (3), pp. 396-402. Date of Electronic Publication: 2020 Oct 07.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Craniofacial Abnormalities*/diagnosis
Craniofacial Abnormalities*/genetics
Ectromelia*
Hypertelorism*/complications
Hypertelorism*/diagnosis
Hypertelorism*/genetics
Acetyltransferases/genetics ; Chromosomal Proteins, Non-Histone/genetics ; Female ; Humans ; Infant ; Karyotyping ; Male ; Pregnancy
SCR Disease Name :
Roberts Syndrome
Czasopismo naukowe
Tytuł :
Diagnostic yield of exome sequencing in fetuses with multisystem malformations: systematic review and meta-analysis.
Autorzy :
Pauta M; BCNatal, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Catalonia, Spain.
Martinez-Portilla RJ; Clinical Research Division, Evidence-Based Medicine Department, National Institute of Perinatology, Mexico City, Mexico.
Borrell A; BCNatal, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Catalonia, Spain.; Barcelona Centre for Maternal-Fetal and Neonatal Medicine (BCNatal), Hospital Clínic Barcelona, Universitat de Barcelona, Barcelona, Catalonia, Spain.
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Źródło :
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology [Ultrasound Obstet Gynecol] 2022 Jun; Vol. 59 (6), pp. 715-722.
Typ publikacji :
Journal Article; Meta-Analysis; Review; Systematic Review
MeSH Terms :
Exome*
Prenatal Diagnosis*
Female ; Fetus/abnormalities ; Humans ; Karyotyping ; Pregnancy ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł :
Do not judge a book by its cover: would Triatoma tibiamaculata (Pinto, 1926) belong to Triatoma Laporte, 1832, or to Panstrongylus Berg, 1879, with misleading homoplasies?
Autorzy :
Bittinelli IF; Universidade Estadual Paulista 'Júlio de Mesquita Filho' (UNESP), Instituto de Biociências Rua Dr. Antônio Celso Wagner Zanin, 250, Distrito de Rubião Júnior, 18618-689, Botucatu, SP, Brasil.
de Oliveira J; Laboratório de Entomologia em Saúde Pública, Departamento de Epidemiologia, Faculdade de Saúde Pública, Universidade de São Paulo (USP), Av. Dr. Arnaldo 715, São Paulo, SP, Brasil.; Laboratório de Parasitologia, Universidade Estadual Paulista 'Júlio de Mesquita Filho' (UNESP), Faculdade de Ciências Farmacêuticas, Rodovia Araraquara-Jaú km 1, 14801-902, Araraquara, SP, Brasil.
Dos Reis YV; Universidade Estadual Paulista 'Júlio de Mesquita Filho' (UNESP), Instituto de Biociências Rua Dr. Antônio Celso Wagner Zanin, 250, Distrito de Rubião Júnior, 18618-689, Botucatu, SP, Brasil.
Ravazi A; Universidade Estadual Paulista 'Júlio de Mesquita Filho' (UNESP), Instituto de Biociências Rua Dr. Antônio Celso Wagner Zanin, 250, Distrito de Rubião Júnior, 18618-689, Botucatu, SP, Brasil.
Madeira FF; Laboratório de Biologia Celular, Universidade Estadual Paulista 'Júlio de Mesquita Filho' (UNESP), Instituto de Biociências, Letras e Ciências Exatas, Rua Cristóvão Colombo 2265, 15054-000, São José do Rio Preto, SP, Brasil.
de Oliveira ABB; Laboratório de Biologia Celular, Universidade Estadual Paulista 'Júlio de Mesquita Filho' (UNESP), Instituto de Biociências, Letras e Ciências Exatas, Rua Cristóvão Colombo 2265, 15054-000, São José do Rio Preto, SP, Brasil.
Montanari G; Laboratório de Parasitologia, Universidade Estadual Paulista 'Júlio de Mesquita Filho' (UNESP), Faculdade de Ciências Farmacêuticas, Rodovia Araraquara-Jaú km 1, 14801-902, Araraquara, SP, Brasil.
Gomes AJC; Universidade Estadual Paulista 'Júlio de Mesquita Filho' (UNESP), Instituto de Biociências Rua Dr. Antônio Celso Wagner Zanin, 250, Distrito de Rubião Júnior, 18618-689, Botucatu, SP, Brasil.
Cesaretto LP; Universidade Estadual Paulista 'Júlio de Mesquita Filho' (UNESP), Instituto de Biociências Rua Dr. Antônio Celso Wagner Zanin, 250, Distrito de Rubião Júnior, 18618-689, Botucatu, SP, Brasil.
Massarin IDS; Universidade Estadual Paulista 'Júlio de Mesquita Filho' (UNESP), Instituto de Biociências Rua Dr. Antônio Celso Wagner Zanin, 250, Distrito de Rubião Júnior, 18618-689, Botucatu, SP, Brasil.
Galvão C; Laboratório Nacional e Internacional de Referência em Taxonomia de Triatomíneos, Instituto Oswaldo Cruz (FIOCRUZ), Av. Brasil 4365, Pavilhão Rocha Lima, sala 505, 21040-360, Rio de Janeiro, RJ, Brasil. .
de Azeredo-Oliveira MTV; Laboratório de Biologia Celular, Universidade Estadual Paulista 'Júlio de Mesquita Filho' (UNESP), Instituto de Biociências, Letras e Ciências Exatas, Rua Cristóvão Colombo 2265, 15054-000, São José do Rio Preto, SP, Brasil.
da Rosa JA; Laboratório de Parasitologia, Universidade Estadual Paulista 'Júlio de Mesquita Filho' (UNESP), Faculdade de Ciências Farmacêuticas, Rodovia Araraquara-Jaú km 1, 14801-902, Araraquara, SP, Brasil.
Alevi KCC; Universidade Estadual Paulista 'Júlio de Mesquita Filho' (UNESP), Instituto de Biociências Rua Dr. Antônio Celso Wagner Zanin, 250, Distrito de Rubião Júnior, 18618-689, Botucatu, SP, Brasil.; Laboratório de Entomologia em Saúde Pública, Departamento de Epidemiologia, Faculdade de Saúde Pública, Universidade de São Paulo (USP), Av. Dr. Arnaldo 715, São Paulo, SP, Brasil.; Laboratório de Parasitologia, Universidade Estadual Paulista 'Júlio de Mesquita Filho' (UNESP), Faculdade de Ciências Farmacêuticas, Rodovia Araraquara-Jaú km 1, 14801-902, Araraquara, SP, Brasil.; Laboratório Nacional e Internacional de Referência em Taxonomia de Triatomíneos, Instituto Oswaldo Cruz (FIOCRUZ), Av. Brasil 4365, Pavilhão Rocha Lima, sala 505, 21040-360, Rio de Janeiro, RJ, Brasil.
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Źródło :
Parasites & vectors [Parasit Vectors] 2022 May 28; Vol. 15 (1), pp. 184. Date of Electronic Publication: 2022 May 28.
Typ publikacji :
Journal Article
MeSH Terms :
Panstrongylus*
Triatoma*/genetics
Animals ; Karyotype ; Karyotyping ; Phylogeny
Czasopismo naukowe
Tytuł :
Integration of Maps Enables a Cytogenomics Analysis of the Complete Karyotype in Solea senegalensis .
Autorzy :
Ramírez D; Área de Genética, Facultad de Ciencias del Mar y Ambientales, INMAR, Universidad de Cádiz, 11510 Cádiz, Spain.
Rodríguez ME; Área de Genética, Facultad de Ciencias del Mar y Ambientales, INMAR, Universidad de Cádiz, 11510 Cádiz, Spain.
Cross I; Área de Genética, Facultad de Ciencias del Mar y Ambientales, INMAR, Universidad de Cádiz, 11510 Cádiz, Spain.
Arias-Pérez A; Área de Genética, Facultad de Ciencias del Mar y Ambientales, INMAR, Universidad de Cádiz, 11510 Cádiz, Spain.
Merlo MA; Área de Genética, Facultad de Ciencias del Mar y Ambientales, INMAR, Universidad de Cádiz, 11510 Cádiz, Spain.
Anaya M; Área de Genética, Facultad de Ciencias del Mar y Ambientales, INMAR, Universidad de Cádiz, 11510 Cádiz, Spain.
Portela-Bens S; Área de Genética, Facultad de Ciencias del Mar y Ambientales, INMAR, Universidad de Cádiz, 11510 Cádiz, Spain.
Martínez P; Departamento de Zoología, Genética y Antropología Física, Universidad de Santiago de Compostela, 27002 Lugo, Spain.
Robles F; Departamento de Genética, Universidad de Granada, 18071 Granada, Spain.
Ruiz-Rejón C; Departamento de Genética, Universidad de Granada, 18071 Granada, Spain.
Rebordinos L; Área de Genética, Facultad de Ciencias del Mar y Ambientales, INMAR, Universidad de Cádiz, 11510 Cádiz, Spain.
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Źródło :
International journal of molecular sciences [Int J Mol Sci] 2022 May 11; Vol. 23 (10). Date of Electronic Publication: 2022 May 11.
Typ publikacji :
Journal Article
MeSH Terms :
DNA Transposable Elements*
Flatfishes*/genetics
Animals ; Karyotype ; Karyotyping ; Synteny/genetics
Czasopismo naukowe
Tytuł :
[Clinical genetic analysis of an infant with 1q21.3-qter duplication and Xpter-p11 deletion caused by maternal balanced chromosomal translocation].
Autorzy :
Lin L; Institute of Genetics, Linyi People's Hospital, Linyi, Shandong 276000, China. .
Zhao C
Lv Y
Zhao X
Li L
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Źródło :
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2022 May 10; Vol. 39 (5), pp. 514-517.
Typ publikacji :
Journal Article
MeSH Terms :
Genetic Testing*
Translocation, Genetic*
Chromosome Banding ; Chromosome Deletion ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping
Czasopismo naukowe
Tytuł :
[Prenatal utility of parental source verification on the interpretation of copy number variation identified by chromosomal microarray analysis].
Autorzy :
Yang Y; Prenatal Diagnosis Center, Hangzhou Maternity and Child Care Hospital, Hangzhou, Zhejiang 310000, China. .
Wang H
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Źródło :
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2022 May 10; Vol. 39 (5), pp. 542-545.
Typ publikacji :
Journal Article
MeSH Terms :
DNA Copy Number Variations*
Prenatal Diagnosis*
Chromosome Aberrations ; Female ; Humans ; Karyotyping ; Microarray Analysis ; Parents ; Pregnancy
Czasopismo naukowe
Tytuł :
[Efficacy and initial clinical evaluation of optical genome mapping in the diagnosis of structural variations].
Autorzy :
Hao N; Department of Obstetrics and Gynecology, Chinese Academy of Medical Sciences & Peking Union Medical College, National Clinical Research Center for Obstetric & Gynecologic Diseases, Beijing 100730, China.
Zhou J; Department of Obstetrics and Gynecology, Chinese Academy of Medical Sciences & Peking Union Medical College, National Clinical Research Center for Obstetric & Gynecologic Diseases, Beijing 100730, China.
Li MM; Department of Obstetrics and Gynecology, Chinese Academy of Medical Sciences & Peking Union Medical College, National Clinical Research Center for Obstetric & Gynecologic Diseases, Beijing 100730, China.
Luo WW; Department of Obstetrics and Gynecology, Chinese Academy of Medical Sciences & Peking Union Medical College, National Clinical Research Center for Obstetric & Gynecologic Diseases, Beijing 100730, China.
Zhang HZ; Department of Obstetrics and Gynecology, Chinese Academy of Medical Sciences & Peking Union Medical College, National Clinical Research Center for Obstetric & Gynecologic Diseases, Beijing 100730, China.
Qi QW; Department of Obstetrics and Gynecology, Chinese Academy of Medical Sciences & Peking Union Medical College, National Clinical Research Center for Obstetric & Gynecologic Diseases, Beijing 100730, China.
Jiang YL; Department of Obstetrics and Gynecology, Chinese Academy of Medical Sciences & Peking Union Medical College, National Clinical Research Center for Obstetric & Gynecologic Diseases, Beijing 100730, China.
Zhou XY; Department of Obstetrics and Gynecology, Chinese Academy of Medical Sciences & Peking Union Medical College, National Clinical Research Center for Obstetric & Gynecologic Diseases, Beijing 100730, China.
Yang K; Key Laboratory of Endocrinology of National Health Commission, Department of Endocrinology, State Key Laboratory of Complex Severe and Rare Diseases, Chinese Academy of Medical Science & Peking Union Medical College, Beijing 100730, China.
Chen H; Key Laboratory of Endocrinology of National Health Commission, Department of Endocrinology, State Key Laboratory of Complex Severe and Rare Diseases, Chinese Academy of Medical Science & Peking Union Medical College, Beijing 100730, China.
Pan HJ; Key Laboratory of Endocrinology of National Health Commission, Department of Endocrinology, State Key Laboratory of Complex Severe and Rare Diseases, Chinese Academy of Medical Science & Peking Union Medical College, Beijing 100730, China.
Zhu JT; Key Laboratory of Endocrinology of National Health Commission, Department of Endocrinology, State Key Laboratory of Complex Severe and Rare Diseases, Chinese Academy of Medical Science & Peking Union Medical College, Beijing 100730, China.
Liu J; Department of Obstetrics and Gynecology, Chinese Academy of Medical Sciences & Peking Union Medical College, National Clinical Research Center for Obstetric & Gynecologic Diseases, Beijing 100730, China.
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Źródło :
Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine] [Zhonghua Yu Fang Yi Xue Za Zhi] 2022 May 06; Vol. 56 (5), pp. 632-639.
Typ publikacji :
Journal Article
MeSH Terms :
Translocation, Genetic*
Chromosome Mapping ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Pregnancy ; Retrospective Studies
Czasopismo naukowe
Tytuł :
A false-positive result at non-invasive prenatal testing due to maternal 17p12 microduplication.
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 Chiao Tung University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan. Electronic address: cpc_.
Chen SW; Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan.
Wu PS; Gene Biodesign Co. Ltd, Taipei, Taiwan.
Wu FT; 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] 2022 May; Vol. 61 (3), pp. 532-534.
Typ publikacji :
Case Reports
MeSH Terms :
Amniocentesis*
Mosaicism*
Adult ; Comparative Genomic Hybridization ; Female ; Humans ; Karyotype ; Karyotyping ; Pregnancy
Raport
Tytuł :
Further genetic testing in fetuses with increased nuchal translucency and a normal array: A targeted panel or exome?
Autorzy :
Yang YD; Ultrasound Department, The Sixth Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong, China.
Li DZ; Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou, Guangdong, China. Electronic address: .
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Źródło :
Taiwanese journal of obstetrics & gynecology [Taiwan J Obstet Gynecol] 2022 May; Vol. 61 (3), pp. 562-563.
Typ publikacji :
Journal Article
MeSH Terms :
Exome*
Nuchal Translucency Measurement*
Female ; Fetus ; Genetic Testing ; Humans ; Karyotyping ; Neck ; Pregnancy ; Pregnancy Trimester, First ; Ultrasonography, Prenatal
Czasopismo naukowe
Tytuł :
International Society for Prenatal Diagnosis Updated Position Statement on the use of genome-wide sequencing for prenatal diagnosis.
Autorzy :
Van den Veyver IB; Departments of Obstetrics and Gynecology and Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas, USA.
Chandler N; North Thames Genomic Laboratory Hub, Great Ormond Street NHS Foundation Trust, London, UK.
Wilkins-Haug LE; Division of Maternal-Fetal Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Wapner RJ; Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, Columbia University Irving Medical Center, New York, New York, USA.
Chitty LS; North Thames Genomic Laboratory Hub, Great Ormond Street NHS Foundation Trust, London, UK.; Genetics and Genomics, UCL Great Ormond Street Institute of Child Health, London, UK.
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Corporate Authors :
ISPD Board of Directors
Źródło :
Prenatal diagnosis [Prenat Diagn] 2022 May; Vol. 42 (6), pp. 796-803.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Exome*
Prenatal Diagnosis*
Female ; Humans ; Karyotyping ; Microarray Analysis ; Pregnancy ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł :
Chromosomal abnormalities of 19,000 couples with recurrent spontaneous abortions: a multicenter study.
Autorzy :
Park SJ; Department of Laboratory Medicine, Ajou University School of Medicine, Suwon, Republic of Korea.
Min JY; Division of Biotechnology, Invites BioCore Co. Ltd., Yongin, Republic of Korea; Department of Brain and Cognitive Sciences, Ewha Womans University, Seoul, Republic of Korea.
Kang JS; Division of Biotechnology, Invites BioCore Co. Ltd., Yongin, Republic of Korea.
Yang BG; Division of Biotechnology, Invites BioCore Co. Ltd., Yongin, Republic of Korea.
Hwang SY; Division of Biotechnology, Invites BioCore Co. Ltd., Yongin, Republic of Korea; Department of Molecular and Life Science, Hanyang University, Sangnok-gu, Ansan, Gyeonggi-do, Republic of Korea.
Han SH; Division of Biotechnology, Invites BioCore Co. Ltd., Yongin, Republic of Korea. Electronic address: .
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Źródło :
Fertility and sterility [Fertil Steril] 2022 May; Vol. 117 (5), pp. 1015-1025. Date of Electronic Publication: 2022 Feb 23.
Typ publikacji :
Journal Article; Multicenter Study
MeSH Terms :
Abortion, Habitual*/diagnosis
Abortion, Habitual*/genetics
Chromosome Aberrations*
Cross-Sectional Studies ; Cytogenetic Analysis ; Female ; Humans ; Karyotyping ; Male ; Mosaicism ; Pregnancy ; Translocation, Genetic
Czasopismo naukowe
Tytuł :
Rapid karyotypic evolution with high diploid number variation in a rare genus of bromeligenous frogs.
Autorzy :
Pedroso RN; LabEsC (Laboratório de Estudos Cromossômicos), Departamento de Biologia Estrutural e Funcional, Instituto de Biologia, Universidade Estadual de Campinas (UNICAMP), 13083-863, Campinas, SP, Brazil.
Santos MTT; Laboratório de Herpetologia, Departamento de Biodiversidade e Centro de Aquicultura (CAUNESP), Instituto de Biociências, Universidade Estadual Paulista (UNESP), 13506-900, Rio Claro, SP, Brazil.; Laboratório de Herpetologia, Departamento de Zoologia, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais (UFMG), 31270-901, Belo Horizonte, MG, Brazil.
Lourenço LB; LabEsC (Laboratório de Estudos Cromossômicos), Departamento de Biologia Estrutural e Funcional, Instituto de Biologia, Universidade Estadual de Campinas (UNICAMP), 13083-863, Campinas, SP, Brazil.
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Źródło :
Genome [Genome] 2022 May; Vol. 65 (5), pp. 255-264. Date of Electronic Publication: 2022 Mar 11.
Typ publikacji :
Journal Article
MeSH Terms :
Anura*/genetics
Diploidy*
Animals ; Chromosome Mapping ; Chromosomes/genetics ; Karyotype ; Karyotyping
Czasopismo naukowe

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