Zobrazeno 1 - 10 of 35 862 pro vyhledávání: '"comparative genomic hybridization"'
1
Akademický článek
Unveiling genetic insights: Array-CGH and WES discoveries in a cohort of 122 children with essential autism spectrum disorder.
Autor: Granata P; Cytogenetics and Medical Genetics Unit, Department of Services, ASST dei Sette Laghi, Varese, Italy., Zito A; School of Medical Genetics, Department of Medicine and Surgery, University of Insubria, Varese, Italy., Cocciadiferro D; Translational Cytogenomics Research Unit, Ospedale Pediatrico Bambino Gesù, Roma, Italy., Novelli A; Translational Cytogenomics Research Unit, Ospedale Pediatrico Bambino Gesù, Roma, Italy., Pessina C; Cytogenetics and Medical Genetics Unit, Department of Services, ASST dei Sette Laghi, Varese, Italy., Mazza T; Translational Cytogenomics Research Unit, Ospedale Pediatrico Bambino Gesù, Roma, Italy.; Laboratory of Bioinformatics, IRCCS Casa Sollievo della Sofferenza, S. Giovanni, Rotondo, Italy., Ferri M; Child Neuropsychiatry Unit, Department of Maternal and Child Health, ASST dei Sette Laghi, Varese, Italy., Piccinelli P; Child Neuropsychiatry Unit, Department of Maternal and Child Health, ASST dei Sette Laghi, Varese, Italy., Luoni C; Child Neuropsychiatry Unit, Department of Maternal and Child Health, ASST dei Sette Laghi, Varese, Italy., Termine C; Child Neuropsychiatry Unit, Department of Medicine and Surgery, University of Insubria, Varese, Italy., Fasano M; Department of Science and High Technology, University of Insubria, via Manara 7, Busto Arsizio, Italy. mauro.fasano@uninsubria.it.; Center of Neuroscience, University of Insubria, Busto Arsizio, Italy. mauro.fasano@uninsubria.it., Casalone R; Cytogenetics and Medical Genetics Unit, Department of Services, ASST dei Sette Laghi, Varese, Italy.
Publikováno v: BMC genomics [BMC Genomics] 2024 Dec 10; Vol. 25 (1), pp. 1186. Date of Electronic Publication: 2024 Dec 10.
Zobrazit plný text záznamu
2
Akademický článek
Distinct copy number signatures between residual benign and transformed areas of carcinoma ex pleomorphic adenoma.
Autor: Scarini JF; Department of Pathology, Faculty of Medical Sciences (FCM), University of Campinas (UNICAMP), 126, Tessalia Vieira de Camargo Street, Cidade Universitaria, Campinas, São Paulo, 13083887, Brazil. scarinij@gmail.com.; Department of Oral Diagnosis, Piracicaba Dental School (FOP), University of Campinas (UNICAMP), Piracicaba, São Paulo, Brazil. scarinij@gmail.com., Sabino WL; Department of Pathology, Faculty of Medical Sciences (FCM), University of Campinas (UNICAMP), 126, Tessalia Vieira de Camargo Street, Cidade Universitaria, Campinas, São Paulo, 13083887, Brazil., de Lima-Souza RA; Department of Pathology, Faculty of Medical Sciences (FCM), University of Campinas (UNICAMP), 126, Tessalia Vieira de Camargo Street, Cidade Universitaria, Campinas, São Paulo, 13083887, Brazil.; Department of Oral Diagnosis, Piracicaba Dental School (FOP), University of Campinas (UNICAMP), Piracicaba, São Paulo, Brazil., Egal ESA; Department of Pathology, Faculty of Medical Sciences (FCM), University of Campinas (UNICAMP), 126, Tessalia Vieira de Camargo Street, Cidade Universitaria, Campinas, São Paulo, 13083887, Brazil.; Department of Pathology, School of Medicine, University of Utah (UU), Salt Lake City, UT, USA., Tincani AJ; Department of Head and Neck Surgery, Faculty of Medical Sciences (FCM), University of Campinas (UNICAMP), Campinas, São Paulo, Brazil., Gondak R; Department of Pathology, Federal University of Santa Catarina (UFSC), Florianópolis, Santa Catarina, Brazil., Kowalski LP; Department of Head and Neck Surgery and Otorhinolaryngology, A.C. Camargo Cancer Center, São Paulo, São Paulo, Brazil., Krepischi ACV; Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo (USP), São Paulo, São Paulo, Brazil., Altemani A; Department of Pathology, Faculty of Medical Sciences (FCM), University of Campinas (UNICAMP), 126, Tessalia Vieira de Camargo Street, Cidade Universitaria, Campinas, São Paulo, 13083887, Brazil., Mariano FV; Department of Pathology, Faculty of Medical Sciences (FCM), University of Campinas (UNICAMP), 126, Tessalia Vieira de Camargo Street, Cidade Universitaria, Campinas, São Paulo, 13083887, Brazil. fmariano@unicamp.br.
Publikováno v: Scientific reports [Sci Rep] 2024 Oct 09; Vol. 14 (1), pp. 23645. Date of Electronic Publication: 2024 Oct 09.
Zobrazit plný text záznamu
3
Akademický článek
Prenatal detection of copy number variants.
Autor: Wafik M; Clinical Genetics Department, Guy's Hospital, London, UK., Pendlebury-Watt A; Prenatal and Reproductive Genetics, Synnovis, Guy's Hospital, London, UK., Price K; St George's Hospital, London, UK., Tomlinson C; Clinical Genetics Department, Guy's Hospital, London, UK., Fowler E; Prenatal and Reproductive Genetics, Synnovis, Guy's Hospital, London, UK., Chandler N; Great Ormond Street Hospital, London, UK., Holder-Espinasse M; Clinical Genetics Department, Guy's Hospital, London, UK. Electronic address: muriel.holder@gstt.nhs.uk.
Publikováno v: Best practice & research. Clinical obstetrics & gynaecology [Best Pract Res Clin Obstet Gynaecol] 2024 Dec; Vol. 97, pp. 102547. Date of Electronic Publication: 2024 Sep 07.
Zobrazit plný text záznamu
4
Akademický článek
Low-level mosaic trisomy 21 at amniocentesis and cordocentesis in a pregnancy associated with a favorable fetal outcome and perinatal progressive decrease of the trisomy 21 cell line.
Autor: 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., Lee MS; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan., Wang W; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
Publikováno v: Taiwanese journal of obstetrics & gynecology [Taiwan J Obstet Gynecol] 2024 Nov; Vol. 63 (6), pp. 927-930.
Zobrazit plný text záznamu
5
Akademický článek
Prenatal diagnosis of a 14-Mb 11p11.2-p13 deletion by chromosome microarray analysis in a pregnancy with fetal recombinant chromosome 11 syndrome of rec(11)del(11)(p11.2p13)ins(11)(q21p11.2p13) and maternal intrachromosomal insertion of ins(11)(q21p11.2p13).
Autor: 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 & Health Science, Asia University, Taichung, Taiwan. Electronic address: cpc_mmh@yahoo.com., Chen CY; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medicine, MacKay Medical College, New Taipei City, Taiwan; MacKay Junior College of Medicine, Nursing and Management, Taipei, Taiwan., Wu FT; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan., Wu PS; Gene Biodesign Co. Ltd, Taipei, Taiwan., Pan YT; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, 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., Wang W; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
Publikováno v: Taiwanese journal of obstetrics & gynecology [Taiwan J Obstet Gynecol] 2024 Nov; Vol. 63 (6), pp. 913-917.
Zobrazit plný text záznamu
6
Akademický článek
Low-level mosaic trisomy 21 due to mosaic unbalanced Robertsonian translocation of 46,XX,+21,der(21;21) (q10;q10)/46,XX at amniocentesis in a pregnancy associated with a favorable fetal outcome, cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, cytogenetic discrepancy among various tissues and perinatal progressive decrease of the trisomy 21 cell line.
Autor: 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., Chen YY; 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., Lee CC; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan., Wang W; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
Publikováno v: Taiwanese journal of obstetrics & gynecology [Taiwan J Obstet Gynecol] 2024 Nov; Vol. 63 (6), pp. 931-934.
Zobrazit plný text záznamu
7
Akademický článek
Prenatal diagnosis of Jacobsen syndrome associated with a distal 11q deletion and a distal 8q duplication by chromosome microarray analysis in a fetus with a de novo unbalanced translocation of 46,XX,der(11)t(8;11)(q24.13;q23.3) and multiple congenital anomalies on fetal ultrasound.
Autor: 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 & Health Science, Asia University, Taichung, Taiwan. Electronic address: cpc_mmh@yahoo.com., Huang JP; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; MacKay Junior College of Medicine, Nursing and Management, Taipei, Taiwan., Wu FT; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan., Wu PS; Gene Biodesign Co. Ltd, Taipei, Taiwan., Pan YT; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, 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., Wang W; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
Publikováno v: Taiwanese journal of obstetrics & gynecology [Taiwan J Obstet Gynecol] 2024 Nov; Vol. 63 (6), pp. 922-926.
Zobrazit plný text záznamu
8
Akademický článek
Detection of chromosome 5q interstitial deletion of 5q14.3-q31.1 by chromosome microarray analysis in a second-trimester fetus with multiple congenital anomalies and a literature review of chromosome 5q interstitial deletion syndrome.
Autor: 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 & Health Science, Asia University, Taichung, Taiwan. Electronic address: cpc_mmh@yahoo.com., Huang JP; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; MacKay Junior College of Medicine, Nursing and Management, Taipei, Taiwan., Wu FT; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan., Wu PS; Gene Biodesign Co. Ltd, Taipei, Taiwan., Pan YT; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan., Wang W; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
Publikováno v: Taiwanese journal of obstetrics & gynecology [Taiwan J Obstet Gynecol] 2024 Nov; Vol. 63 (6), pp. 918-921.
Zobrazit plný text záznamu
9
Akademický článek
Subungual melanoma: molecular analysis of 31 cases from early stage to invasive melanoma.
Autor: Perrin C; Laboratoire Central d'Anatomie Pathologique, Nice University Hospital, Nice, France., Coutts M; Department of Cellular Pathology, Maidstone Hospital, Kent, UK., Dadone-Montaudié B; Institute for Research on Cancer and Aging of Nice (IRCAN) CNRS UMR 7284/INSERM U1081, University of Cote d'Azur (UCA), Nice University Hospital, Nice, France.; Department of Pathology and Molecular Oncology, Laboratoire d'Oncologie Moléculaire, Nice University Hospital, Nice, France.
Publikováno v: Histopathology [Histopathology] 2025 Jan; Vol. 86 (2), pp. 214-225. Date of Electronic Publication: 2024 Aug 13.
Zobrazit plný text záznamu
10
Akademický článek
Low-level mosaic trisomy 14 at amniocentesis in a pregnancy associated with cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, positive non-invasive prenatal testing for trisomy 14, perinatal progressive decrease of the trisomy 14 cell line and a favorable fetal outcome.
Autor: 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., Chang SY; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan., Wu PS; Gene Biodesign Co. Ltd, Taipei, Taiwan., Pan YT; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan., Lee MS; 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.
Publikováno v: Taiwanese journal of obstetrics & gynecology [Taiwan J Obstet Gynecol] 2024 Sep; Vol. 63 (5), pp. 755-758.
Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání

Omezení vyhledávání
Plný text Recenzováno Digitální knihovna AV ČR
Zdroje