المؤلفون: Wang WC; Department of Obstetrics and Gynecology, Jen-Ai Hospital, Taichung, Taiwan., Hou TC; Department of Pathology, Jen-Ai Hospital, Taichung, Taiwan., Kuo CY; Department of Pathology, Jen-Ai Hospital, Taichung, Taiwan., Lai YC; Department of Medical Laboratory and Biotechnology, Chung Shan Medical University, No.110, Sec. 1, Chien Kuo N. Road, Taichung, 402, Taiwan, R.O.C.. yenchein@csmu.edu.tw.; Clinical Laboratory, Chung Shan Medical University Hospital, Taichung, Taiwan. yenchein@csmu.edu.tw.

المصدر: Journal of ovarian research [J Ovarian Res] 2024 Jun 21; Vol. 17 (1), pp. 129. Date of Electronic Publication: 2024 Jun 21.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101474849 Publication Model: Electronic Cited Medium: Internet ISSN: 1757-2215 (Electronic) Linking ISSN: 17572215 NLM ISO Abbreviation: J Ovarian Res Subsets: MEDLINE

مواضيع طبية MeSH: Chondrogenesis*/genetics , Comparative Genomic Hybridization* , Homeodomain Proteins*/genetics , Osteogenesis*/genetics , Ovarian Neoplasms*/genetics , Ovarian Neoplasms*/pathology , Teratoma*/genetics , Teratoma*/pathology , Transcription Factors*/genetics , Transcription Factors*/metabolism, Adult ; Female ; Humans ; Middle Aged ; Neoplasm Proteins

SCR Disease Name: Teratoma, Ovarian

المؤلفون: 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; Department of Medical Laboratory Science and Biotechnology, College of Medical and Health Science, Asia University, Taichung, Taiwan. Electronic address: cpc_mmh@yahoo.com., Lin SY; Department of Obstetrics and Gynecology, National Taiwan University Hospital, Taipei, Taiwan., Yuan TJ; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.

المصدر: Taiwanese journal of obstetrics & gynecology [Taiwan J Obstet Gynecol] 2024 Jul; Vol. 63 (4), pp. 568-569.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: China (Republic : 1949- ) NLM ID: 101213819 Publication Model: Print Cited Medium: Internet ISSN: 1875-6263 (Electronic) Linking ISSN: 10284559 NLM ISO Abbreviation: Taiwan J Obstet Gynecol Subsets: MEDLINE

مواضيع طبية MeSH: Amniocentesis* , Comparative Genomic Hybridization* , Ultrasonography, Prenatal* , Double Outlet Right Ventricle*/diagnostic imaging , Double Outlet Right Ventricle*/embryology , Transposition of Great Vessels*/diagnostic imaging, Humans ; Female ; Pregnancy ; Adult ; DiGeorge Syndrome/genetics ; DNA/analysis ; Karyotype

المؤلفون: 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; Department of Medical Laboratory Science and Biotechnology, College of Medical and Health Science, Asia University, Taichung, Taiwan. Electronic address: cpc_mmh@yahoo.com., Wu FT; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan., Pan YT; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan., Wu PS; Gene Biodesign Co. Ltd, Taipei, Taiwan., Yang CW; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan., Chiu CL; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan., Wang W; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.

المصدر: Taiwanese journal of obstetrics & gynecology [Taiwan J Obstet Gynecol] 2024 Jul; Vol. 63 (4), pp. 549-551.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: China (Republic : 1949- ) NLM ID: 101213819 Publication Model: Print Cited Medium: Internet ISSN: 1875-6263 (Electronic) Linking ISSN: 10284559 NLM ISO Abbreviation: Taiwan J Obstet Gynecol Subsets: MEDLINE

مواضيع طبية MeSH: Amniocentesis* , Mosaicism*/embryology , Trisomy*/diagnosis , Trisomy*/genetics , Chromosomes, Human, Pair 7*/genetics , Uniparental Disomy*/diagnosis , Uniparental Disomy*/genetics , Comparative Genomic Hybridization*, Humans ; Pregnancy ; Female ; Adult ; Infant, Newborn ; Cell Line ; Cells, Cultured ; Pregnancy Outcome/genetics

SCR Disease Name: Chromosome 7, trisomy mosaic

المؤلفون: 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; Department of Medical Laboratory Science and Biotechnology, College of Medical and Health Science, Asia University, Taichung, Taiwan. Electronic address: cpc_mmh@yahoo.com., Wu FT; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan., Pan YT; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan., Wu PS; Gene Biodesign Co. Ltd, Taipei, Taiwan., Lee MS; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan., Wang W; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.

المصدر: Taiwanese journal of obstetrics & gynecology [Taiwan J Obstet Gynecol] 2024 Jul; Vol. 63 (4), pp. 561-564.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: China (Republic : 1949- ) NLM ID: 101213819 Publication Model: Print Cited Medium: Internet ISSN: 1875-6263 (Electronic) Linking ISSN: 10284559 NLM ISO Abbreviation: Taiwan J Obstet Gynecol Subsets: MEDLINE

مواضيع طبية MeSH: Chromosomes, Human, Pair 3*/genetics , Amniocentesis* , Chromosome Deletion* , Comparative Genomic Hybridization* , Pedigree*, Humans ; Female ; Pregnancy ; Adult ; Male ; Heterozygote ; Infant, Newborn

المؤلفون: Burghel GJ; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK George.Burghel@mft.nhs.uk.; Division of Evolution, Infection and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK., Ellingford JM; Division of Evolution, Infection and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK., Wright R; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK., Bradford L; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK., Miller J; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK., Watt C; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK., Edgerley J; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK., Naeem F; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK., Banka S; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK.; Division of Evolution, Infection and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.

المصدر: Journal of medical genetics [J Med Genet] 2024 Jun 20; Vol. 61 (7), pp. 621-625. Date of Electronic Publication: 2024 Jun 20.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: DNA Copy Number Variations*/genetics , Haploinsufficiency*/genetics , Comparative Genomic Hybridization*, Humans ; Exome/genetics ; Clinical Relevance

المؤلفون: 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; Department of Medical Laboratory Science and Biotechnology, College of Medical and Health Science, Asia University, Taichung, Taiwan. Electronic address: cpc_mmh@yahoo.com., Wu FT; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan., Pan YT; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan., Wu PS; Gene Biodesign Co. Ltd, Taipei, Taiwan., Lee CC; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan., Chiu CL; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan., Wang W; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.

المصدر: Taiwanese journal of obstetrics & gynecology [Taiwan J Obstet Gynecol] 2024 May; Vol. 63 (3), pp. 394-397.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: China (Republic : 1949- ) NLM ID: 101213819 Publication Model: Print Cited Medium: Internet ISSN: 1875-6263 (Electronic) Linking ISSN: 10284559 NLM ISO Abbreviation: Taiwan J Obstet Gynecol Subsets: MEDLINE

مواضيع طبية MeSH: Amniocentesis* , Mosaicism*/embryology , Down Syndrome*/genetics , Down Syndrome*/diagnosis , In Situ Hybridization, Fluorescence* , Comparative Genomic Hybridization*, Humans ; Pregnancy ; Female ; Adult ; Infant, Newborn ; Cell Line ; Cells, Cultured ; Karyotyping/methods ; Amnion/cytology ; Male

المؤلفون: Madritsch S; Institute of Medical Genetics, Medical University of Vienna, Währinger Straße 10, 1090, Vienna, Austria. silvia.madritsch@meduniwien.ac.at., Arnold V; Institute of Medical Genetics, Medical University of Vienna, Währinger Straße 10, 1090, Vienna, Austria.; HLN-Genetik GmbH, Ortliebgasse 25/1, 1170, Vienna, Austria., Haider M; Institute of Medical Genetics, Medical University of Vienna, Währinger Straße 10, 1090, Vienna, Austria.; HLN-Genetik GmbH, Ortliebgasse 25/1, 1170, Vienna, Austria., Bosenge J; HLN-Genetik GmbH, Ortliebgasse 25/1, 1170, Vienna, Austria., Pfeifer M; Institute of Medical Genetics, Medical University of Vienna, Währinger Straße 10, 1090, Vienna, Austria., Weil B; Institute of Medical Genetics, Medical University of Vienna, Währinger Straße 10, 1090, Vienna, Austria.; HLN-Genetik GmbH, Ortliebgasse 25/1, 1170, Vienna, Austria., Zechmeister M; HLN-Genetik GmbH, Ortliebgasse 25/1, 1170, Vienna, Austria., Hengstschläger M; Institute of Medical Genetics, Medical University of Vienna, Währinger Straße 10, 1090, Vienna, Austria.; HLN-Genetik GmbH, Ortliebgasse 25/1, 1170, Vienna, Austria., Neesen J; Institute of Medical Genetics, Medical University of Vienna, Währinger Straße 10, 1090, Vienna, Austria.; HLN-Genetik GmbH, Ortliebgasse 25/1, 1170, Vienna, Austria., Laccone F; Institute of Medical Genetics, Medical University of Vienna, Währinger Straße 10, 1090, Vienna, Austria.; HLN-Genetik GmbH, Ortliebgasse 25/1, 1170, Vienna, Austria.

المصدر: Journal of assisted reproduction and genetics [J Assist Reprod Genet] 2024 May; Vol. 41 (5), pp. 1261-1271. Date of Electronic Publication: 2024 Apr 20.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer Country of Publication: Netherlands NLM ID: 9206495 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-7330 (Electronic) Linking ISSN: 10580468 NLM ISO Abbreviation: J Assist Reprod Genet Subsets: MEDLINE

مواضيع طبية MeSH: Aneuploidy* , Nanopore Sequencing*/methods , Polar Bodies* , Fertilization in Vitro*/methods , Comparative Genomic Hybridization*/methods , Preimplantation Diagnosis*/methods, Humans ; Female ; Pregnancy ; Adult ; Oocytes/growth & development ; Genetic Testing/methods

المؤلفون: 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; Department of Medical Laboratory Science and Biotechnology, College of Medical and Health Science, Asia University, Taichung, Taiwan. Electronic address: cpc_mmh@yahoo.com., Wang LK; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan., Wu FT; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan., Pan YT; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan., Wu PS; Gene Biodesign Co. Ltd, Taipei, Taiwan., Lee CC; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan., Chen WL; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan., Chiu CL; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan., Wang W; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.

المصدر: Taiwanese journal of obstetrics & gynecology [Taiwan J Obstet Gynecol] 2024 May; Vol. 63 (3), pp. 398-401.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: China (Republic : 1949- ) NLM ID: 101213819 Publication Model: Print Cited Medium: Internet ISSN: 1875-6263 (Electronic) Linking ISSN: 10284559 NLM ISO Abbreviation: Taiwan J Obstet Gynecol Subsets: MEDLINE

مواضيع طبية MeSH: Amniocentesis* , Mosaicism*/embryology , Cordocentesis* , Comparative Genomic Hybridization*, Humans ; Pregnancy ; Female ; Adult ; Chromosomes, Human, Pair 10/genetics ; Chromosome Deletion ; Infant, Newborn ; Aneuploidy ; Karyotyping

المؤلفون: Ranieri A; CEINGE-Biotecnologie Avanzate Franco Salvatore, via G. Salvatore 486, 80145 Naples, Italy., La Monica I; CEINGE-Biotecnologie Avanzate Franco Salvatore, via G. Salvatore 486, 80145 Naples, Italy.; Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università di Napoli Federico II, via Sergio Pansini 5, 80131 Naples, Italy., Di Iorio MR; CEINGE-Biotecnologie Avanzate Franco Salvatore, via G. Salvatore 486, 80145 Naples, Italy.; Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università di Napoli Federico II, via Sergio Pansini 5, 80131 Naples, Italy., Lombardo B; CEINGE-Biotecnologie Avanzate Franco Salvatore, via G. Salvatore 486, 80145 Naples, Italy.; Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università di Napoli Federico II, via Sergio Pansini 5, 80131 Naples, Italy., Pastore L; CEINGE-Biotecnologie Avanzate Franco Salvatore, via G. Salvatore 486, 80145 Naples, Italy.; Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università di Napoli Federico II, via Sergio Pansini 5, 80131 Naples, Italy.

المصدر: Genes [Genes (Basel)] 2024 Mar 28; Vol. 15 (4). Date of Electronic Publication: 2024 Mar 28.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

مواضيع طبية MeSH: Neurodevelopmental Disorders*/genetics , DNA Copy Number Variations*/genetics , Comparative Genomic Hybridization*, Humans ; Female ; Male ; Italy ; Child ; Adolescent ; Child, Preschool

المؤلفون: Kang B; Department of Pathology and Pediatrics, University of Michigan, Ann Arbor, MI, USA.; Department of Pathology, University of Michigan, Ann Arbor, MI, USA., Xiao H; Department of Pathology, University of Michigan, Ann Arbor, MI, USA., Ackley T; Department of Pathology, University of Michigan, Ann Arbor, MI, USA., Shao L; Department of Pathology and Pediatrics, University of Michigan, Ann Arbor, MI, USA. linashao@med.umich.edu.; Department of Pathology, University of Michigan, Ann Arbor, MI, USA. linashao@med.umich.edu.

المصدر: Methods in molecular biology (Clifton, N.J.) [Methods Mol Biol] 2024; Vol. 2825, pp. 151-171.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Humana Press Country of Publication: United States NLM ID: 9214969 Publication Model: Print Cited Medium: Internet ISSN: 1940-6029 (Electronic) Linking ISSN: 10643745 NLM ISO Abbreviation: Methods Mol Biol Subsets: MEDLINE

مواضيع طبية MeSH: Polymorphism, Single Nucleotide* , Comparative Genomic Hybridization*/methods , Neoplasms*/genetics , Oligonucleotide Array Sequence Analysis*/methods, Humans ; Loss of Heterozygosity ; DNA Copy Number Variations ; Chromosome Aberrations