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Tytuł:
Prenatal diagnosis and molecular genetic analysis of recurrent trisomy 18 of maternal origin in two consecutive pregnancies.
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; Department of Medical Laboratory Science and Biotechnology, College of Medical and Health Science, Asia University, Taichung, Taiwan. Electronic address: cpc_.
Wu FT; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
Wong CH; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
Chen SW; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
Chern SR; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
Pan YT; 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.
Pokaż więcej
Źródło:
Taiwanese journal of obstetrics & gynecology [Taiwan J Obstet Gynecol] 2023 May; Vol. 62 (3), pp. 444-447.
Typ publikacji:
Case Reports
MeSH Terms:
Trisomy*/diagnosis
Trisomy*/genetics
Mosaicism*
Pregnancy ; Female ; Humans ; Adult ; Trisomy 18 Syndrome/diagnosis ; Trisomy 18 Syndrome/genetics ; Prenatal Diagnosis ; Amniocentesis ; Molecular Biology ; Comparative Genomic Hybridization
Raport
Szczegóły
Tytuł:
Management and survival of foetuses with trisomy 18 in a French retrospective cohort.
Autorzy:
Bouzaglou A; Department of Obstetrics and Gynecology, DMU Santé des Femmes et des Nouveau-nés, Hôpital Bicêtre, AP-HP, Université Paris Saclay, Le Kremlin Bicêtre, France.
Dumery G; Department of Obstetrics and Gynecology, DMU Santé des Femmes et des Nouveau-nés, Hôpital Bicêtre, AP-HP, Université Paris Saclay, Le Kremlin Bicêtre, France.
Letourneau A; Department of Obstetrics and Gynecology DMU Santé des Femmes et des Nouveau-nés, Hôpital Antoine Béclère, AP-HP, Université Paris Saclay, Clamart, France.
Benachi A; Department of Obstetrics and Gynecology DMU Santé des Femmes et des Nouveau-nés, Hôpital Antoine Béclère, AP-HP, Université Paris Saclay, Clamart, France.
Vivanti AJ; Department of Obstetrics and Gynecology DMU Santé des Femmes et des Nouveau-nés, Hôpital Antoine Béclère, AP-HP, Université Paris Saclay, Clamart, France.
Cordier AG; Department of Obstetrics and Gynecology, DMU Santé des Femmes et des Nouveau-nés, Hôpital Bicêtre, AP-HP, Université Paris Saclay, Le Kremlin Bicêtre, France; Department of Obstetrics and Gynecology, DMU ORIGYNE, Hôpital Tenon, Sorbonne Université, Paris, France. Electronic address: .
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Źródło:
Journal of gynecology obstetrics and human reproduction [J Gynecol Obstet Hum Reprod] 2023 Apr; Vol. 52 (4), pp. 102565. Date of Electronic Publication: 2023 Mar 01.
Typ publikacji:
Journal Article
MeSH Terms:
Trisomy*
Prenatal Care*
Pregnancy ; Infant ; Infant, Newborn ; Humans ; Female ; Retrospective Studies ; Trisomy 18 Syndrome ; Fetus
Czasopismo naukowe
Szczegóły
Tytuł:
Misdiagnosis of trisomy 13 and trisomy 18 is more common than anticipated.
Autorzy:
Geddes GC; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA.
Hafezi N; Department of Surgery, Indiana University School of Medicine, Indianapolis, Indiana, USA.
Gray BW; Department of Surgery, Indiana University School of Medicine, Indianapolis, Indiana, USA.
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Źródło:
American journal of medical genetics. Part A [Am J Med Genet A] 2022 Oct; Vol. 188 (10), pp. 3126-3129. Date of Electronic Publication: 2022 Aug 04.
Typ publikacji:
Letter
MeSH Terms:
Trisomy*/diagnosis
Trisomy*/genetics
Diagnostic Errors ; Humans ; Karyotyping ; Trisomy 13 Syndrome/diagnosis ; Trisomy 13 Syndrome/genetics ; Trisomy 18 Syndrome/diagnosis ; Trisomy 18 Syndrome/genetics
Opinia redakcyjna
Szczegóły
Tytuł:
Cell-free DNA screening for trisomies 21, 18, and 13 in pregnancies at low and high risk for aneuploidy with genetic confirmation.
Autorzy:
Dar P; Department of Obstetrics and Gynecology and Women's Health, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, NY. Electronic address: .
Jacobsson B; Department of Obstetrics and Gynecology, Sahlgrenska University Hospital, Gothenburg, Sweden; Department of Obstetrics and Gynecology, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
MacPherson C; The Biostatistics Center, George Washington University, Washington, DC.
Egbert M; Natera Inc, Austin, TX.
Malone F; Department of Obstetrics and Gynecology, Rotunda Hospital, Royal College of Surgeons in Ireland, Dublin, Ireland.
Wapner RJ; Department of Obstetrics and Gynecology, Columbia University Irving Medical Center, New York, NY.
Roman AS; Department of Obstetrics and Gynecology, New York University Grossman School of Medicine, New York, NY.
Khalil A; Department of Obstetrics and Gynecology, St George's Hospital, University of London, London, United Kingdom.
Faro R; Department of Obstetrics and Gynecology, St. Peter's University Hospital, New Brunswick, NJ.
Madankumar R; Department of Obstetrics and Gynecology, Long Island Jewish Medical Center, Hyde Park, NY.
Edwards L; Suffolk Obstetrics & Gynecology, Port Jefferson, NY.
Haeri S; Austin Maternal-Fetal Medicine, Austin, TX.
Silver R; Department of Obstetrics and Gynecology, University of Utah, Salt Lake City, UT.
Vohra N; Department of Obstetrics and Gynecology, North Shore University Hospital, Manhasset, NY.
Hyett J; Department of Obstetrics and Gynecology, Royal Prince Alfred Hospital, University of Sydney, Camperdown, Australia.
Clunie G; Department of Obstetrics and Gynecology, Icahn School of Medicine at Mount Sinai, New York, NY.
Demko Z; Natera Inc, Austin, TX.
Martin K; Natera Inc, Austin, TX.
Rabinowitz M; Natera Inc, Austin, TX.
Flood K; Department of Obstetrics and Gynecology, Rotunda Hospital, Royal College of Surgeons in Ireland, Dublin, Ireland.
Carlsson Y; Department of Obstetrics and Gynecology, Sahlgrenska University Hospital, Gothenburg, Sweden; Department of Obstetrics and Gynecology, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
Doulaveris G; Department of Obstetrics and Gynecology and Women's Health, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, NY.
Malone C; Department of Obstetrics and Gynecology, Rotunda Hospital, Royal College of Surgeons in Ireland, Dublin, Ireland.
Hallingstrom M; Department of Obstetrics and Gynecology, Sahlgrenska University Hospital, Gothenburg, Sweden.
Klugman S; Department of Obstetrics and Gynecology and Women's Health, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, NY.
Clifton R; The Biostatistics Center, George Washington University, Washington, DC.
Kao C; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA.
Hakonarson H; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA.
Norton ME; Department of Obstetrics, Gynecology and Reproductive Sciences, University of California San Francisco, San Francisco, CA.
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Źródło:
American journal of obstetrics and gynecology [Am J Obstet Gynecol] 2022 Aug; Vol. 227 (2), pp. 259.e1-259.e14. Date of Electronic Publication: 2022 Jan 25.
Typ publikacji:
Journal Article; Multicenter Study; Observational Study; Research Support, Non-U.S. Gov't
MeSH Terms:
Cell-Free Nucleic Acids*
Chromosome Disorders*/diagnosis
Chromosome Disorders*/genetics
Down Syndrome*/diagnosis
Down Syndrome*/genetics
Trisomy*/diagnosis
Trisomy*/genetics
Aneuploidy ; Female ; Humans ; Infant, Newborn ; Nucleotides ; Pregnancy ; Pregnancy Outcome ; Prenatal Diagnosis/methods ; Prospective Studies ; Trisomy 13 Syndrome/diagnosis ; Trisomy 13 Syndrome/genetics ; Trisomy 18 Syndrome/diagnosis ; Trisomy 18 Syndrome/genetics
Czasopismo naukowe
Szczegóły
Tytuł:
Cell-free DNA analysis for noninvasive examination of trisomy: comparing 2 targeted methods.
Autorzy:
Conotte S; Department of Blood Transfusion, University Hospital Brugmann, Brussels, Belgium.
El Kenz H; Department of Blood Transfusion, University Hospital Brugmann, Brussels, Belgium.
De Marchin J; Labocita, Centre Hospitalier Régional de la Citadelle, Liège, Belgium.
Jani JC; Department of Obstetrics and Gynecology, University Hospital Brugmann, Université Libre de Bruxelles, Place A. Van Gehuchten 4 1020 Brussels, Belgium. Electronic address: .
Pokaż więcej
Źródło:
American journal of obstetrics and gynecology [Am J Obstet Gynecol] 2022 Sep; Vol. 227 (3), pp. 539-541. Date of Electronic Publication: 2022 May 14.
Typ publikacji:
Letter; Research Support, Non-U.S. Gov't
MeSH Terms:
Cell-Free Nucleic Acids*
Trisomy*/diagnosis
Trisomy*/genetics
Chromosomes, Human, Pair 18 ; Female ; Humans ; Pregnancy ; Prenatal Diagnosis/methods ; Sequence Analysis, DNA ; Trisomy 13 Syndrome/diagnosis ; Trisomy 13 Syndrome/genetics ; Trisomy 18 Syndrome/diagnosis ; Trisomy 18 Syndrome/genetics
Raport
Szczegóły
Tytuł:
Survival Outcomes of Infants with the Trisomy 13 or Trisomy 18 Syndromes.
Autorzy:
Carey JC; Division of Medical Genetics, Department of Pediatrics, University of Utah Health, Salt Lake City, Utah. Electronic address: .
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Źródło:
The Journal of pediatrics [J Pediatr] 2022 Aug; Vol. 247, pp. 11-13. Date of Electronic Publication: 2022 May 28.
Typ publikacji:
Editorial; Comment
MeSH Terms:
Intensive Care Units, Neonatal*
Trisomy*/diagnosis
Trisomy*/genetics
Birth Weight ; Chromosomes, Human, Pair 18/genetics ; Humans ; Infant ; Infant, Newborn ; Trisomy 13 Syndrome/diagnosis ; Trisomy 13 Syndrome/genetics ; Trisomy 18 Syndrome/diagnosis
Opinia redakcyjna
Szczegóły
Tytuł:
Perinatal Outcomes of Fetuses and Infants Diagnosed with Trisomy 13 or Trisomy 18.
Autorzy:
Cortezzo DE; Division of Neonatal and Pulmonary Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; Division of Pain and Palliative Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH; Department of Anesthesiology, University of Cincinnati College of Medicine, Cincinnati, OH.
Tolusso LK; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
Swarr DT; Division of Neonatal and Pulmonary Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH. Electronic address: .
Pokaż więcej
Źródło:
The Journal of pediatrics [J Pediatr] 2022 Aug; Vol. 247, pp. 116-123.e5. Date of Electronic Publication: 2022 Apr 19.
Typ publikacji:
Journal Article
MeSH Terms:
Fetus*
Trisomy*/diagnosis
Adolescent ; Child ; Chromosomes, Human, Pair 18/genetics ; Female ; Humans ; Infant ; Infant, Newborn ; Male ; Pregnancy ; Prenatal Diagnosis/methods ; Retrospective Studies ; Trisomy 13 Syndrome/diagnosis ; Trisomy 18 Syndrome/diagnosis
Czasopismo naukowe
Szczegóły
Tytuł:
Mosaic trisomy 18 at amniocentesis associated with a favorable fetal outcome in a pregnancy.
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_.
Hsu TY; Department of Obstetrics and Gynecology, Kaohsiung Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Kaohsiung, Taiwan.
Tsai CC; Department of Obstetrics and Gynecology, Kaohsiung Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Kaohsiung, Taiwan.
Chern SR; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
Chen SW; Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan.
Wu FT; 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 LF; Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan.
Pan CW; Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan.
Wang W; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
Pokaż więcej
Źródło:
Taiwanese journal of obstetrics & gynecology [Taiwan J Obstet Gynecol] 2022 Jul; Vol. 61 (4), pp. 690-694.
Typ publikacji:
Case Reports
MeSH Terms:
Amniocentesis*
Trisomy*/diagnosis
Trisomy*/genetics
Comparative Genomic Hybridization ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Pregnancy ; Trisomy 18 Syndrome/diagnosis ; Trisomy 18 Syndrome/genetics
Raport
Szczegóły
Tytuł:
Prenatal phenotypic spectrum of full trisomy 18 in an Indian cohort.
Autorzy:
Sandal S; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.
Mahay SB; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.
Dimri Gupta N; Department of Fetal Medicine, Sir Ganga Ram Hospital, New Delhi, India.
Saxena R; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.
Lall M; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.
Dua Puri R; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.
Pokaż więcej
Źródło:
American journal of medical genetics. Part A [Am J Med Genet A] 2022 Jun; Vol. 188 (6), pp. 1904-1908. Date of Electronic Publication: 2022 Feb 21.
Typ publikacji:
Case Reports
MeSH Terms:
Trisomy*/diagnosis
Trisomy*/genetics
Ultrasonography, Prenatal*
Female ; Humans ; In Situ Hybridization, Fluorescence ; Phenotype ; Pregnancy ; Trisomy 18 Syndrome/diagnosis ; Trisomy 18 Syndrome/genetics
Raport
Szczegóły
Tytuł:
Severe recalcitrant hidradenitis suppurativa in a 2-year-old boy with partial trisomy 13.
Autorzy:
Keyes E; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Larijani M; Section of Dermatology, Department of General Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Castelo-Soccio L; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Section of Dermatology, Department of General Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Treat JR; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Section of Dermatology, Department of General Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Pokaż więcej
Źródło:
Pediatric dermatology [Pediatr Dermatol] 2022 May; Vol. 39 (3), pp. 491-493. Date of Electronic Publication: 2022 Mar 01.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Chromosomes, Human, Pair 13*
Trisomy*
Hidradenitis Suppurativa/*complications
Trisomy 13 Syndrome/*diagnosis
Child, Preschool ; Hidradenitis Suppurativa/diagnosis ; Hidradenitis Suppurativa/genetics ; Hidradenitis Suppurativa/therapy ; Humans ; Immunoglobulins/administration & dosage ; Immunologic Deficiency Syndromes/genetics ; Immunologic Deficiency Syndromes/therapy ; Male ; Trisomy 13 Syndrome/complications
Czasopismo naukowe
Szczegóły
Tytuł:
A rare case report of Edwards syndrome with immature teratoma in submandibular region and literature review.
Autorzy:
Gerakova E; St George University Multiprofile Hospital for Active Medical Treatment, Plovdiv, Bulgaria.
Genova S; St George University Multiprofile Hospital for Active Medical Treatment, Plovdiv, Bulgaria.
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Źródło:
Folia medica [Folia Med (Plovdiv)] 2022 Apr 30; Vol. 64 (2), pp. 348-353.
Typ publikacji:
Case Reports; Journal Article; Review
MeSH Terms:
Teratoma*/diagnosis
Trisomy*
Humans ; Infant ; Male ; Prevalence ; Trisomy 18 Syndrome
Czasopismo naukowe
Szczegóły
Tytuł:
Mosaicism for trisomy 2 in a single colony at amniocentesis in a pregnancy with a favorable outcome and cytogenetic discrepancy at different amniocenteses.
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; Department of Medical Laboratory Science and Biotechnology, College of Medical and Health Science, Asia University, Taichung, Taiwan. Electronic address: cpc_.
Pokaż więcej
Źródło:
Taiwanese journal of obstetrics & gynecology [Taiwan J Obstet Gynecol] 2023 Sep; Vol. 62 (5), pp. 779-781.
Typ publikacji:
Journal Article
MeSH Terms:
Mosaicism*
Trisomy*/diagnosis
Trisomy*/genetics
Female ; Pregnancy ; Humans ; Amniocentesis ; Chromosomes, Human, Pair 2/genetics ; Cytogenetic Analysis
Czasopismo naukowe
Szczegóły
Tytuł:
Mosaic trisomy 16 at amniocentesis in a pregnancy associated with positive non-invasive prenatal testing for trisomy 16, placental trisomy 16, intrauterine growth restriction, intrauterine fetal death, cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, and prenatal progressive decrease of the aneuploid cell line.
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; Department of Medical Laboratory Science and Biotechnology, College of Medical and Health Science, Asia University, Taichung, Taiwan. Electronic address: cpc_.
Wu FT; Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan.
Chen YY; 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.
Pan CW; Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan.
Wang W; Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan.
Pokaż więcej
Źródło:
Taiwanese journal of obstetrics & gynecology [Taiwan J Obstet Gynecol] 2023 Jul; Vol. 62 (4), pp. 597-601.
Typ publikacji:
Case Reports
MeSH Terms:
Mosaicism*
Amniocentesis*
Trisomy*
Chromosomes, Human, Pair 16 ; Humans ; Female ; Pregnancy ; Fetal Growth Retardation ; Fetal Blood ; Cytogenetic Analysis
SCR Disease Name:
Chromosome 16, trisomy
Raport
Szczegóły
Tytuł:
Controversies in implementing non-invasive prenatal testing in a public antenatal care program.
Autorzy:
Salvesen KÅB; Department of Obstetrics and Gynecology, St. Olavs Hospital, Trondheim University Hospital, Trondheim, Norway.; Department of Clinical and Molecular Medicine, Norwegian University of Science and Technology, Trondheim, Norway.
Glad R; Department of Medical Genetics, University Hospital of North Norway, Tromsø, Norway.; Department of Obstetrics and Gynecology, University Hospital of North Norway, Tromsø, Norway.
Sitras V; Department of Fetal Medicine, Oslo University Hospital, Oslo, Norway.
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Źródło:
Acta obstetricia et gynecologica Scandinavica [Acta Obstet Gynecol Scand] 2022 Jun; Vol. 101 (6), pp. 577-580. Date of Electronic Publication: 2022 Mar 24.
Typ publikacji:
Journal Article
MeSH Terms:
Down Syndrome*/diagnosis
Down Syndrome*/genetics
Trisomy*
Female ; Genetic Testing ; Humans ; Pregnancy ; Prenatal Care ; Prenatal Diagnosis/psychology ; Trisomy 13 Syndrome/diagnosis
Czasopismo naukowe
Szczegóły
Tytuł:
Expansion of non-invasive prenatal screening to the screening of 10 types of chromosomal anomalies: a cost-effectiveness analysis.
Autorzy:
Soukkhaphone B; Laval University, Quebec City, Quebec, Canada.
Baradaran M; Laval University, Quebec City, Quebec, Canada.
Nguyen BD; Laval University, Quebec City, Quebec, Canada.
Nshimyumukiza L; Laval University, Quebec City, Quebec, Canada.; Institut National d'Excellence en Santé et Services Sociaux, Quebec City, Quebec, Canada.
Little J; University of Ottawa, Ottawa, Ontario, Canada.
Rousseau F; Laval University, Quebec City, Quebec, Canada.; CHU de Québec-Université Laval Research Center, Quebec City, Quebec, Canada.
Audibert F; CHU Sainte-Justine, Quebec City, Quebec, Canada.; University of Montreal, Montreal, Quebec, Canada.
Langlois S; The University of British Columbia, Vancouver, British Columbia, Canada.
Reinharz D; Laval University, Quebec City, Quebec, Canada .
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Źródło:
BMJ open [BMJ Open] 2023 Aug 30; Vol. 13 (8), pp. e069485. Date of Electronic Publication: 2023 Aug 30.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Trisomy*
Cost-Effectiveness Analysis*
Female ; Pregnancy ; Humans ; Aneuploidy ; Canada ; Prenatal Diagnosis
Czasopismo naukowe
Szczegóły
Tytuł:
Oncogene-like addiction to aneuploidy in human cancers.
Autorzy:
Girish V; Yale University School of Medicine, New Haven, CT 06511, USA.; Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Lakhani AA; Cold Spring Harbor Laboratory, Cold Spring Harbor, NY 11724, USA.
Thompson SL; Yale University School of Medicine, New Haven, CT 06511, USA.
Scaduto CM; Cold Spring Harbor Laboratory, Cold Spring Harbor, NY 11724, USA.
Brown LM; Yale University School of Medicine, New Haven, CT 06511, USA.
Hagenson RA; Yale University School of Medicine, New Haven, CT 06511, USA.
Sausville EL; Cold Spring Harbor Laboratory, Cold Spring Harbor, NY 11724, USA.
Mendelson BE; Yale University School of Medicine, New Haven, CT 06511, USA.
Kandikuppa PK; Yale University School of Medicine, New Haven, CT 06511, USA.
Lukow DA; Yale University School of Medicine, New Haven, CT 06511, USA.
Yuan ML; Cold Spring Harbor Laboratory, Cold Spring Harbor, NY 11724, USA.
Stevens EC; Yale University School of Medicine, New Haven, CT 06511, USA.
Lee SN; Yale University School of Medicine, New Haven, CT 06511, USA.
Schukken KM; Yale University School of Medicine, New Haven, CT 06511, USA.
Akalu SM; Yale University School of Medicine, New Haven, CT 06511, USA.
Vasudevan A; Yale University School of Medicine, New Haven, CT 06511, USA.
Zou C; Yale University School of Medicine, New Haven, CT 06511, USA.
Salovska B; Yale University School of Medicine, New Haven, CT 06511, USA.
Li W; Yale University School of Medicine, New Haven, CT 06511, USA.
Smith JC; Yale University School of Medicine, New Haven, CT 06511, USA.
Taylor AM; Columbia University School of Medicine, New York, NY 10032, USA.
Martienssen RA; Cold Spring Harbor Laboratory, Cold Spring Harbor, NY 11724, USA.; Howard Hughes Medical Institute, Cold Spring Harbor Laboratory, Cold Spring Harbor, NY 11724, USA.
Liu Y; Yale University School of Medicine, New Haven, CT 06511, USA.
Sun R; Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, MN 55455, USA.
Sheltzer JM; Yale University School of Medicine, New Haven, CT 06511, USA.
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Źródło:
Science (New York, N.Y.) [Science] 2023 Aug 25; Vol. 381 (6660), pp. eadg4521. Date of Electronic Publication: 2023 Aug 25.
Typ publikacji:
Journal Article
MeSH Terms:
Cell Cycle Proteins*/genetics
Neoplasms*/genetics
Neoplasms*/therapy
Oncogenes*
Trisomy*
Gene Editing*/methods
Tumor Suppressor Protein p53*/genetics
Humans ; Mutation ; Proto-Oncogene Proteins/metabolism ; Carcinogenesis/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
45,X/46,XX at amniocentesis associated with cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes and in different amniocenteses and a favorable fetal outcome with a normal karyotype at birth.
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; Department of Medical Laboratory Science and Biotechnology, College of Medical and Health Science, Asia University, Taichung, Taiwan. Electronic address: cpc_.
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.
Wang W; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
Pokaż więcej
Źródło:
Taiwanese journal of obstetrics & gynecology [Taiwan J Obstet Gynecol] 2023 Jul; Vol. 62 (4), pp. 586-587.
Typ publikacji:
Case Reports
MeSH Terms:
Amniocentesis*
Trisomy*
Pregnancy ; Infant, Newborn ; Female ; Humans ; Infant ; Adult ; Comparative Genomic Hybridization ; In Situ Hybridization, Fluorescence ; Cytogenetic Analysis ; Karyotype ; Mosaicism
Raport
Szczegóły
Tytuł:
Non-invasive prenatal testing for the detection of trisomies 21, 18, and 13 in pregnant women with various clinical indications: A multicenter observational study of 1,854,148 women in China.
Autorzy:
Xiang L; National Office for Maternal and Child Health Surveillance of China, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
Zhu J; National Center for Birth Defect Monitoring of China, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, Sichuan, China.
Deng K; National Office for Maternal and Child Health Surveillance of China, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
Li Q; National Office for Maternal and Child Health Surveillance of China, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
Tao J; National Office for Maternal and Child Health Surveillance of China, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
Li M; National Office for Maternal and Child Health Surveillance of China, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
Wang Y; National Center for Birth Defect Monitoring of China, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
Yuan X; National Office for Maternal and Child Health Surveillance of China, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
Yao Y; National Center for Birth Defect Monitoring of China, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
Li X; Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, Sichuan, China.; Sichuan Birth Defects Clinical Research Center, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
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Źródło:
Prenatal diagnosis [Prenat Diagn] 2023 Jul; Vol. 43 (8), pp. 1036-1043. Date of Electronic Publication: 2023 Jan 27.
Typ publikacji:
Multicenter Study; Observational Study; Journal Article
MeSH Terms:
Down Syndrome*/diagnosis
Down Syndrome*/genetics
Trisomy*/diagnosis
Female ; Humans ; Pregnancy ; China ; Cross-Sectional Studies ; Pregnant Women ; Prenatal Diagnosis
Czasopismo naukowe
Szczegóły
Tytuł:
Low-level mosaic double trisomy involving trisomy 6 and trisomy 20 (48,XY,+6,+20) at amniocentesis without uniparental disomy (UPD) 6 and UPD 20 in a pregnancy associated with a favorable outcome.
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; Department of Medical Laboratory Science and Biotechnology, College of Medical and Health Science, Asia University, Taichung, Taiwan. Electronic address: cpc_.
Wu FT; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
Chern SR; Department of Medical Research, 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.
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] 2023 May; Vol. 62 (3), pp. 470-473.
Typ publikacji:
Case Reports
MeSH Terms:
Amniocentesis*
Trisomy*/diagnosis
Trisomy*/genetics
Pregnancy ; Female ; Male ; Humans ; Mosaicism ; In Situ Hybridization, Fluorescence ; Comparative Genomic Hybridization ; Uniparental Disomy/diagnosis ; Uniparental Disomy/genetics ; Karyotype
SCR Disease Name:
Chromosome 20, trisomy
Raport
Szczegóły
Tytuł:
Prenatal Detection of Trisomy 2: Considerations for Genetic Counseling and Testing.
Autorzy:
Talantova OE; D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Mendeleevskaya Line, 3, St. Petersburg 199034, Russia.
Koltsova AS; D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Mendeleevskaya Line, 3, St. Petersburg 199034, Russia.
Tikhonov AV; D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Mendeleevskaya Line, 3, St. Petersburg 199034, Russia.
Pendina AA; D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Mendeleevskaya Line, 3, St. Petersburg 199034, Russia.
Malysheva OV; D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Mendeleevskaya Line, 3, St. Petersburg 199034, Russia.
Tarasenko OA; D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Mendeleevskaya Line, 3, St. Petersburg 199034, Russia.
Vashukova ES; D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Mendeleevskaya Line, 3, St. Petersburg 199034, Russia.
Shabanova ES; D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Mendeleevskaya Line, 3, St. Petersburg 199034, Russia.
Golubeva AV; Faculty of Biology, Department of Genetics and Biotechnology, St. Petersburg State University, Universitetskaya emb., 7/9, St. Petersburg 199034, Russia.
Chiryaeva OG; D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Mendeleevskaya Line, 3, St. Petersburg 199034, Russia.
Glotov AS; D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Mendeleevskaya Line, 3, St. Petersburg 199034, Russia.
Bespalova ON; D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Mendeleevskaya Line, 3, St. Petersburg 199034, Russia.
Efimova OA; D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Mendeleevskaya Line, 3, St. Petersburg 199034, Russia.
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Źródło:
Genes [Genes (Basel)] 2023 Apr 14; Vol. 14 (4). Date of Electronic Publication: 2023 Apr 14.
Typ publikacji:
Case Reports; Research Support, Non-U.S. Gov't
MeSH Terms:
Trisomy*/diagnosis
Trisomy*/genetics
Oligohydramnios*/diagnosis
Pregnancy ; Female ; Humans ; Adult ; Placenta ; Genetic Counseling ; In Situ Hybridization, Fluorescence ; Comparative Genomic Hybridization ; Fetal Growth Retardation/genetics ; Chromosomes, Human, Pair 2
Raport
Szczegóły
Wyświetlanie 1-20 z 18520

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