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Tytuł :
Factors associated with test failure in pregnant women undergoing cell-free DNA-based testing for fetal trisomy.
Autorzy :
Chang J; 34732Peking Union Medical College Hospital, Beijing, China.
Qi Q; 34732Peking Union Medical College Hospital, Beijing, China.
Zhou X; 34732Peking Union Medical College Hospital, Beijing, China.
Jiang Y; 34732Peking Union Medical College Hospital, Beijing, China.
Hao N; 34732Peking Union Medical College Hospital, Beijing, China.
Liu J; 34732Peking Union Medical College Hospital, Beijing, China.
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Źródło :
Journal of medical screening [J Med Screen] 2021 Dec; Vol. 28 (4), pp. 411-418. Date of Electronic Publication: 2021 Apr 22.
Typ publikacji :
Journal Article
MeSH Terms :
Cell-Free Nucleic Acids*
Trisomy*
Female ; Humans ; Pregnancy ; Pregnancy Outcome ; Pregnant Women ; Prenatal Diagnosis ; Retrospective Studies ; Trisomy 18 Syndrome
Czasopismo naukowe
Tytuł :
Retrospective details of false-positive and false-negative results in non-invasive prenatal testing for fetal trisomies 21, 18 and 13.
Autorzy :
Suzumori N; Department of Obstetrics and Gynaecology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan; Division of Clinical and Molecular Genetics, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan. Electronic address: .
Sekizawa A; Department of Obstetrics and Gynaecology, Showa University School of Medicine, Tokyo, Japan.
Takeda E; Department of Obstetrics and Gynaecology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan; Division of Clinical and Molecular Genetics, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
Samura O; Department of Obstetrics and Gynaecology, Jikei University School of Medicine, Tokyo, Japan.
Sasaki A; Centre for Maternal-Fetal, Neonatal and Reproductive Medicine, National Centre for Child Health and Development, Tokyo, Japan.
Akaishi R; Centre for Maternal-Fetal, Neonatal and Reproductive Medicine, National Centre for Child Health and Development, Tokyo, Japan.
Wada S; Centre for Maternal-Fetal, Neonatal and Reproductive Medicine, National Centre for Child Health and Development, Tokyo, Japan.
Hamanoue H; Department of Clinical Genetics, Yokohama City University Hospital, Yokohama, Japan.
Hirahara F; Department of Clinical Genetics, Yokohama City University Hospital, Yokohama, Japan.
Sawai H; Department of Obstetrics and Gynaecology, Hyogo College of Medicine, Nishinomiya, Japan.
Nakamura H; Department of Obstetrics, Osaka City General Hospital, Osaka, Japan.
Yamada T; Clinical Genetics Unit, Kyoto University Hospital, Kyoto, Japan.
Miura K; Department of Obstetrics and Gynaecology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
Masuzaki H; Department of Obstetrics and Gynaecology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
Nakayama S; Boshi-Aiikukai Maternal & Child Health Center, Aiiku Clinic, Tokyo, Japan.
Kamei Y; Departments of Obstetrics and Gynaecology, Saitama Medical University School of Medicine, Saitama, Japan.
Namba A; Departments of Obstetrics and Gynaecology, Saitama Medical University School of Medicine, Saitama, Japan.
Murotsuki J; Department of Maternal and Fetal Medicine, Tohoku University Graduate School of Medicine, Miyagi Children's Hospital, Sendai, Japan.
Yamaguchi M; Department of Obstetrics and Gynaecology, Niigata University Medical and Dental Hospital, Niigata, Japan.
Tairaku S; Department of Obstetrics and Gynaecology, Kobe University Graduate School of Medicine, Kobe, Japan.
Maeda K; Department of Obstetrics and Gynaecology, Shikoku Medical Centre for Children and Adults, Kagawa, Japan.
Kaji T; Department of Obstetrics and Gynaecology, The University of Tokushima Faculty of Medicine, Tokushima, Japan.
Okamoto Y; Department of Obstetrics, Osaka Women's and Child's Hospital, Osaka, Japan.
Endo M; Department of Obstetrics and Gynaecology, Osaka University Graduate School of Medicine, Osaka, Japan.
Ogawa M; Department of Obstetrics and Gynaecology, Tokyo Women's Medical University, Tokyo, Japan.
Kasai Y; Department of Obstetrics and Gynaecology, Japanese Red Cross Medical Centre, Tokyo, Japan.
Ichizuka K; Department of Obstetrics and Gynaecology, Showa University Northern Yokohama Hospital, Yokohama, Japan.
Yamada N; Departments of Obstetrics and Gynaecology, Mito Saiseikai General Hospital, Ibaraki, Japan.
Ida A; Department of Obstetrics and Gynaecology, Kobe Adventist Hospital, Kobe, Japan.
Miharu N; Department of Obstetrics and Gynaecology, Chugokudenryoku Hospital, Hiroshima, Japan.
Kawaguchi S; Department of Obstetrics and Gynaecology, Hokkaido University Hospital, Hokkaido, Japan.
Hasuo Y; Department of Obstetrics and Gynaecology, National Hospital Organization, Kyushu Medical Centre, Fukuoka, Japan.
Okazaki T; Division of Clinical Genetics, Tottori University Hospital, Yonago, Japan.
Ichikawa M; Department of Obstetrics and Gynaecology, Nara Medical University, Nara, Japan.
Izumi S; Department of Obstetrics and Gynaecology, Tokai University, Isehara, Japan.
Kuno N; Department of Obstetrics and Gynaecology, AOI Nagoya Hospital, Nagoya, Japan.
Yotsumoto J; Graduate School of Health and Welfare Sciences, International University of Health and Welfare, Tokyo, Japan.
Nishiyama M; Centre for Maternal-Fetal, Neonatal and Reproductive Medicine, National Centre for Child Health and Development, Tokyo, Japan.
Shirato N; Department of Obstetrics and Gynaecology, Showa University School of Medicine, Tokyo, Japan.
Hirose T; Department of Obstetrics and Gynaecology, Showa University School of Medicine, Tokyo, Japan.
Sago H; Centre for Maternal-Fetal, Neonatal and Reproductive Medicine, National Centre for Child Health and Development, Tokyo, Japan.
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Źródło :
European journal of obstetrics, gynecology, and reproductive biology [Eur J Obstet Gynecol Reprod Biol] 2021 Jan; Vol. 256, pp. 75-81. Date of Electronic Publication: 2020 Oct 27.
Typ publikacji :
Journal Article
MeSH Terms :
Down Syndrome*/diagnosis
Down Syndrome*/genetics
Trisomy*/diagnosis
Trisomy*/genetics
Female ; Humans ; Infant, Newborn ; Pregnancy ; Prenatal Diagnosis ; Retrospective Studies ; Trisomy 18 Syndrome
Czasopismo naukowe
Tytuł :
Analysis of cell-free DNA in a consecutive series of 13,607 routine cases for the detection of fetal chromosomal aneuploidies in a single center in Germany.
Autorzy :
Borth H; Amedes Institut für Labormedizin und Klinische Genetik Rhein/Ruhr, Willy Brandt Platz 4, 45127, Essen, Germany.
Teubert A; Amedes Genetics, Georgstr. 50, 30159, Hannover, Germany.
Glaubitz R; Amedes Genetics, Georgstr. 50, 30159, Hannover, Germany.
Knippenberg S; Amedes Genetics, Georgstr. 50, 30159, Hannover, Germany.
Kutur N; Amedes Institut für Labormedizin und Klinische Genetik Rhein/Ruhr, Willy Brandt Platz 4, 45127, Essen, Germany.
Winkler T; Amedes Institut für Labormedizin und Klinische Genetik Rhein/Ruhr, Willy Brandt Platz 4, 45127, Essen, Germany.
Eiben B; Amedes Institut für Labormedizin und Klinische Genetik Rhein/Ruhr, Willy Brandt Platz 4, 45127, Essen, Germany. .
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Źródło :
Archives of gynecology and obstetrics [Arch Gynecol Obstet] 2021 Jun; Vol. 303 (6), pp. 1407-1414. Date of Electronic Publication: 2020 Nov 05.
Typ publikacji :
Journal Article
MeSH Terms :
Aneuploidy*
Cell-Free Nucleic Acids*
Down Syndrome/*diagnosis
Prenatal Diagnosis/*methods
Trisomy/*diagnosis
Adult ; Down Syndrome/genetics ; Female ; Humans ; Predictive Value of Tests ; Pregnancy ; Sequence Analysis, DNA/methods ; Trisomy/genetics ; Trisomy 13 Syndrome/diagnosis ; Trisomy 18 Syndrome
Czasopismo naukowe
Tytuł :
Performance and Diagnostic Value of Genome-Wide Noninvasive Prenatal Testing in Multiple Gestations.
Autorzy :
van Riel M; Department of Human Genetics, Katholieke Universiteit Leuven, Leuven, the Center for Human Genetics and the Department of Obstetrics and Gynecology, Universitair Ziekenhuis Leuven, Leuven, the Center for Medical Genetics, Universitair Ziekenhuis Gent, Ghent, the Center for Medical Genetics, Universitair Ziekenhuis Antwerpen, Antwerp, the Center for Medical Genetics, Universiteit Antwerpen, Antwerp, the Center for Medical Genetics, Centre Hospitalier Universitaire de Liège, Liège, the Center for Human Genetics, Université Libre de Bruxelles, Brussels, the Center for Human Genetics, Université Catholique de Louvain, Brussels, the Center for Medical Genetics, Institut de Pathologie et de Génétique Gosselies, Charleroi, the Center for Medical Genetics, Vrije Universiteit Brussel, Brussels, and the Department of Obstetrics, Women's Clinic, Universitair Ziekenhuis Gent, Ghent, Belgium.
Brison N
Baetens M
Blaumeiser B
Boemer F
Bourlard L
Bulk S
De Leener A
Désir J
Devriendt K
Dheedene A
Duquenne A
Fieremans N
Fieuw A
Gatot JS
Grisart B
Janssens S
Khudashvili N
Lannoo L
Marichal A
Meunier C
Palmeira L
Parijs I
Pichon B
Roets E
Sammels E
Smits G
Suenaert M
Sznajer Y
Van den Bogaert K
Vancoillie L
Vandeputte L
Vantroys E
Vermeesch JR
Janssens K
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Źródło :
Obstetrics and gynecology [Obstet Gynecol] 2021 Jun 01; Vol. 137 (6), pp. 1102-1108.
Typ publikacji :
Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
MeSH Terms :
Fetal Resorption*/diagnosis
Fetal Resorption*/genetics
Noninvasive Prenatal Testing*
Pregnancy, Multiple*
Down Syndrome/*diagnosis
Trisomy 13 Syndrome/*diagnosis
Trisomy 18 Syndrome/*diagnosis
Amniocentesis ; Amnion/diagnostic imaging ; Cell-Free Nucleic Acids/analysis ; Chorion/diagnostic imaging ; Diagnostic Errors ; False Negative Reactions ; Female ; Genome, Human ; Humans ; Pregnancy ; Pregnancy, Quadruplet ; Pregnancy, Triplet ; Pregnancy, Twin ; Retrospective Studies ; Sensitivity and Specificity ; Trisomy
Czasopismo naukowe
Tytuł :
A visual tool inclusive of fetal ultrasound and autopsy findings to reach a balanced approach to counseling on trisomy 18 in early second trimester.
Autorzy :
Triunfo S; Department of Obstetrics and Gynecology, Ente Ospedaliere Cantonale, University of the Italian Switzerland Lugano, Via Tesserete 46, 6900, Lugano, Switzerland. .
Bonollo M; Department of Obstetrics and Gynecology, Ente Ospedaliere Cantonale, University of the Italian Switzerland Lugano, Via Tesserete 46, 6900, Lugano, Switzerland.
Gaffuri P; Institute of Pathology, Locarno, Switzerland.
Viviano M; Department of Obstetrics and Gynecology, Ente Ospedaliere Cantonale, University of the Italian Switzerland Lugano, Via Tesserete 46, 6900, Lugano, Switzerland.
Satta D; Department of Obstetrics and Gynecology, Ente Ospedaliere Cantonale, University of the Italian Switzerland Lugano, Via Tesserete 46, 6900, Lugano, Switzerland.
Bergmann M; Institute of Pathology, Locarno, Switzerland.
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Źródło :
Archives of gynecology and obstetrics [Arch Gynecol Obstet] 2021 Nov; Vol. 304 (5), pp. 1115-1125.
Typ publikacji :
Case Reports; News; Research Support, Non-U.S. Gov't
MeSH Terms :
Counseling*
Pelvic Pain/*etiology
Prenatal Diagnosis/*methods
Trisomy 18 Syndrome/*diagnosis
Adult ; Autopsy ; Down Syndrome ; Female ; Humans ; Nuchal Translucency Measurement ; Pregnancy ; Pregnancy Trimester, First ; Pregnancy Trimester, Second ; Pregnancy-Associated Plasma Protein-A ; Trisomy 18 Syndrome/diagnostic imaging ; Trisomy 18 Syndrome/pathology
Raport
Tytuł :
Update on noninvasive prenatal testing: A review based on current worldwide research.
Autorzy :
Samura O; Department of Obstetrics and Gynecology, Jikei University School of Medicine, Tokyo, Japan.
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Źródło :
The journal of obstetrics and gynaecology research [J Obstet Gynaecol Res] 2020 Aug; Vol. 46 (8), pp. 1246-1254. Date of Electronic Publication: 2020 Jun 17.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Down Syndrome*/diagnosis
Down Syndrome*/genetics
Trisomy*
Aneuploidy ; Female ; Genetic Testing ; Humans ; Pregnancy ; Pregnancy Trimester, First ; Prenatal Diagnosis ; Sex Chromosome Aberrations ; Trisomy 18 Syndrome
Czasopismo naukowe
Tytuł :
Follow-Up Studies of cf-DNA Testing from 101 Consecutive Fetuses and Related Ultrasound Findings.
Autorzy :
Basaran S; Medical Genetics, Istanbul Medical Faculty, Istanbul, Turkey.
Has R; Women Health Centre, MEDIZON, Istanbul, Turkey.
Kalelioglu IH; Obstetrics and Gynecology, Istanbul Medical Faculty, Istanbul, Turkey.
Karaman B; Medical Genetics, Istanbul Medical Faculty, Istanbul, Turkey.
Kirgiz M; Genetic Diagnosis Center, PREMED, Istanbul, Turkey.
Dehgan T; Genetic Diagnosis Center, PREMED, Istanbul, Turkey.
Satkin BN; Genetic Diagnosis Center, PREMED, Istanbul, Turkey.
Sivrikoz TS; Obstetrics and Gynecology, Istanbul Medical Faculty, Istanbul, Turkey.
Yuksel A; Women Health Centre, MEDIZON, Istanbul, Turkey.
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Transliterated Title :
Ultraschallbefunde und follow-up-Untersuchungen nach 101 auffälligen nicht-invasiven Pränataltests (NIPT).
Źródło :
Ultraschall in der Medizin (Stuttgart, Germany : 1980) [Ultraschall Med] 2020 Apr; Vol. 41 (2), pp. 175-185. Date of Electronic Publication: 2018 Sep 25.
Typ publikacji :
Journal Article
MeSH Terms :
Genetic Testing*/methods
Prenatal Diagnosis*
Trisomy*
Chromosomes, Human, Pair 18 ; DNA/analysis ; Female ; Fetus ; Follow-Up Studies ; Humans ; Pregnancy ; Retrospective Studies ; Trisomy 13 Syndrome/diagnosis ; Trisomy 18 Syndrome/diagnosis
Czasopismo naukowe
Tytuł :
Impact of trisomy 13 and 18 on airway anomalies and pulmonary complications after cardiac surgery.
Autorzy :
Swanson SK; Division of Cardiology, Department of Pediatrics, University of Nebraska Medical Center, Omaha, Neb.
Schumacher KR; Division of Cardiology, Department of Pediatrics, University of Michigan, Ann Arbor, Mich.
Ohye RG; Division of Cardiothoracic Surgery, Department of Surgery, University of Michigan, Ann Arbor, Mich.
Zampi JD; Division of Cardiology, Department of Pediatrics, University of Michigan, Ann Arbor, Mich. Electronic address: .
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Źródło :
The Journal of thoracic and cardiovascular surgery [J Thorac Cardiovasc Surg] 2021 Jul; Vol. 162 (1), pp. 241-249. Date of Electronic Publication: 2020 Sep 01.
Typ publikacji :
Journal Article
MeSH Terms :
Respiratory Tract Diseases*/epidemiology
Respiratory Tract Diseases*/etiology
Trisomy 13 Syndrome*
Trisomy 18 Syndrome*
Cardiac Surgical Procedures/*adverse effects
Postoperative Complications/*epidemiology
Female ; Humans ; Infant ; Length of Stay/statistics & numerical data ; Male ; Respiration, Artificial/statistics & numerical data ; Retrospective Studies
Czasopismo naukowe
Tytuł :
Defining low-risk high hyperdiploidy in patients with paediatric acute lymphoblastic leukaemia: a retrospective analysis of data from the UKALL97/99 and UKALL2003 clinical trials.
Autorzy :
Enshaei A; Leukaemia Research Cytogenetics Group, Wolfson Childhood Cancer Research Centre, Clinical and Translational Research Institute, Newcastle University, Newcastle-upon-Tyne, UK. Electronic address: .
Vora A; Department of Haematology, Great Ormond Street Hospital, London, UK.
Harrison CJ; Leukaemia Research Cytogenetics Group, Wolfson Childhood Cancer Research Centre, Clinical and Translational Research Institute, Newcastle University, Newcastle-upon-Tyne, UK.
Moppett J; Department of Haematology, Bristol Royal Hospital for Children, Bristol, UK.
Moorman AV; Leukaemia Research Cytogenetics Group, Wolfson Childhood Cancer Research Centre, Clinical and Translational Research Institute, Newcastle University, Newcastle-upon-Tyne, UK.
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Źródło :
The Lancet. Haematology [Lancet Haematol] 2021 Nov; Vol. 8 (11), pp. e828-e839.
Typ publikacji :
Clinical Trial; Journal Article
MeSH Terms :
Precursor Cell Lymphoblastic Leukemia-Lymphoma/*genetics
Trisomy/*genetics
Adolescent ; Adult ; Child ; Child, Preschool ; Chromosome Aberrations ; Disease Management ; Female ; Humans ; Infant ; Male ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/diagnosis ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/therapy ; Prognosis ; Retrospective Studies ; Survival Analysis ; Trisomy/diagnosis ; Young Adult
Czasopismo naukowe
Tytuł :
Cardiac Surgery in Trisomy 13 and 18: A Guide to Clinical Decision-Making.
Autorzy :
Carvajal HG; Section of Pediatric Cardiothoracic Surgery, Department of Surgery, Washington University School of Medicine in St. Louis/St. Louis Children's Hospital, Saint Louis, MO, USA.
Callahan CP; Department of Surgery, Barnes-Jewish Hospital, Washington University School of Medicine in St. Louis, Saint Louis, MO, USA.
Miller JR; Section of Pediatric Cardiothoracic Surgery, Department of Surgery, Washington University School of Medicine in St. Louis/St. Louis Children's Hospital, Saint Louis, MO, USA.
Rensink BL; Section of Pediatric Cardiothoracic Surgery, Department of Surgery, Washington University School of Medicine in St. Louis/St. Louis Children's Hospital, Saint Louis, MO, USA.
Eghtesady P; Section of Pediatric Cardiothoracic Surgery, Department of Surgery, Washington University School of Medicine in St. Louis/St. Louis Children's Hospital, Saint Louis, MO, USA. .
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Źródło :
Pediatric cardiology [Pediatr Cardiol] 2020 Oct; Vol. 41 (7), pp. 1319-1333. Date of Electronic Publication: 2020 Sep 14.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Clinical Decision-Making*
Cardiac Surgical Procedures/*methods
Heart Defects, Congenital/*surgery
Trisomy 13 Syndrome/*surgery
Trisomy 18 Syndrome/*surgery
Child ; Child, Preschool ; Female ; Heart Defects, Congenital/mortality ; Humans ; Infant ; Infant, Newborn ; Male ; Practice Guidelines as Topic ; Respiration, Artificial ; Risk Factors ; Tracheostomy ; Treatment Outcome ; Trisomy ; Trisomy 13 Syndrome/mortality ; Trisomy 18 Syndrome/mortality
Czasopismo naukowe
Tytuł :
Potential Increased Risk of Trisomy 18 Observed After a Fertilizer Warehouse Fire in Brazos County and TX.
Autorzy :
Xu X; Department of Epidemiology and Biostatistics, School of Public Health, Texas A&M University, 212 12 Adriance Lab Road, College Station, TX 77843, USA.
Zhang X; Department of Epidemiology and Biostatistics, School of Public Health, Texas A&M University, 212 12 Adriance Lab Road, College Station, TX 77843, USA.
Han J; Department of Epidemiology and Biostatistics, School of Public Health, Texas A&M University, 212 12 Adriance Lab Road, College Station, TX 77843, USA.
Adamu Y; Department of Epidemiology and Biostatistics, School of Public Health, Texas A&M University, 212 12 Adriance Lab Road, College Station, TX 77843, USA.
Zhang B; Department of Epidemiology and Biostatistics, School of Public Health, Texas A&M University, 212 12 Adriance Lab Road, College Station, TX 77843, USA.
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Źródło :
International journal of environmental research and public health [Int J Environ Res Public Health] 2020 Apr 08; Vol. 17 (7). Date of Electronic Publication: 2020 Apr 08.
Typ publikacji :
Journal Article; Observational Study
MeSH Terms :
Fertilizers*
Trisomy 18 Syndrome*
Female ; Humans ; Pregnancy ; Texas/epidemiology ; Trisomy
Czasopismo naukowe
Tytuł :
Assessment and Clinical Utility of a Non-Next-Generation Sequencing-Based Non-Invasive Prenatal Testing Technology.
Autorzy :
Gormus U; PerkinElmer Genomics Sweden, 191 38 Sollentuna, Sweden.
Chaubey A; PerkinElmer Genomics, Pittsburgh, PA 15275, USA.; Bionano Genomics, San Diego, CA 92121, USA.
Shenoy S; PerkinElmer Genomics, Pittsburgh, PA 15275, USA.
Wong YW; DNA Laboratories Sdn. Bhd, PerkinElmer Genomics Malaysia, Bangi 43650, Selangor, Malaysia.
Chan LY; DNA Laboratories Sdn. Bhd, PerkinElmer Genomics Malaysia, Bangi 43650, Selangor, Malaysia.
Choo BP; DNA Laboratories Sdn. Bhd, PerkinElmer Genomics Malaysia, Bangi 43650, Selangor, Malaysia.
Oraha L; PerkinElmer Genomics Sweden, 191 38 Sollentuna, Sweden.
Gousseva A; Vanadis Diagnostics, PerkinElmer Inc., 191 38 Sollentuna, Sweden.
Persson F; Vanadis Diagnostics, PerkinElmer Inc., 191 38 Sollentuna, Sweden.
Prensky L; PerkinElmer Inc., Waltham, MA 02451, USA.
Chin E; PerkinElmer Genomics, Pittsburgh, PA 15275, USA.
Hegde M; PerkinElmer Genomics, Pittsburgh, PA 15275, USA.
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Źródło :
Current issues in molecular biology [Curr Issues Mol Biol] 2021 Aug 17; Vol. 43 (2), pp. 958-964. Date of Electronic Publication: 2021 Aug 17.
Typ publikacji :
Journal Article
MeSH Terms :
Aneuploidy*
Cell-Free Nucleic Acids/*blood
Down Syndrome/*diagnosis
High-Throughput Nucleotide Sequencing/*methods
Noninvasive Prenatal Testing/*methods
Trisomy 13 Syndrome/*diagnosis
Trisomy 18 Syndrome/*diagnosis
Adult ; Cell-Free Nucleic Acids/genetics ; Down Syndrome/genetics ; Female ; Humans ; Middle Aged ; Pregnancy ; Trisomy 13 Syndrome/genetics ; Trisomy 18 Syndrome/genetics ; Young Adult
Czasopismo naukowe
Tytuł :
Emerging evidence that medical and surgical interventions improve the survival and outcome in the trisomy 13 and 18 syndromes.
Autorzy :
Carey JC; Department of Pediatrics, Division of Medical Genetics, University of Utah Health, Salt Lake City, Utah.
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2020 Jan; Vol. 182 (1), pp. 13-14. Date of Electronic Publication: 2019 Oct 14.
Typ publikacji :
Journal Article; Comment
MeSH Terms :
Trisomy*
Humans ; Prevalence ; Registries ; Trisomy 13 Syndrome ; Trisomy 18 Syndrome
Czasopismo naukowe
Tytuł :
Restoration of keratinocytic phenotypes in autonomous trisomy-rescued cells.
Autorzy :
Tanuma-Takahashi A; Center for Regenerative Medicine, National Center for Child Health and Development Research Institute, 2-10-1 Okura, Setagaya, Tokyo, 157-8535, Japan.; Department of Obstetrics and Gynecology, The Jikei University School of Medicine, Tokyo, 105-8471, Japan.
Inoue M; Center for Regenerative Medicine, National Center for Child Health and Development Research Institute, 2-10-1 Okura, Setagaya, Tokyo, 157-8535, Japan.; Department of Obstetrics and Gynecology, The Jikei University School of Medicine, Tokyo, 105-8471, Japan.
Kajiwara K; Center for Regenerative Medicine, National Center for Child Health and Development Research Institute, 2-10-1 Okura, Setagaya, Tokyo, 157-8535, Japan.; Department of Obstetrics and Gynecology, The Jikei University School of Medicine, Tokyo, 105-8471, Japan.
Takagi R; Center for Regenerative Medicine, National Center for Child Health and Development Research Institute, 2-10-1 Okura, Setagaya, Tokyo, 157-8535, Japan.; Institute of Advanced Biomedical Engineering and Science, Tokyo Women's Medical University, Tokyo, 162-8666, Japan.
Yamaguchi A; Center for Regenerative Medicine, National Center for Child Health and Development Research Institute, 2-10-1 Okura, Setagaya, Tokyo, 157-8535, Japan.
Samura O; Department of Obstetrics and Gynecology, The Jikei University School of Medicine, Tokyo, 105-8471, Japan.
Akutsu H; Center for Regenerative Medicine, National Center for Child Health and Development Research Institute, 2-10-1 Okura, Setagaya, Tokyo, 157-8535, Japan.
Sago H; Center for Maternal-Fetal, Neonatal and Reproductive Medicine, National Center for Child Health and Development, Tokyo, 157-8535, Japan.
Kiyono T; Project for Prevention of HPV-related Cancer, Exploratory Oncology Research and Clinical Trial Center, National Cancer Center, Chiba, 277-8577, Japan.
Okamoto A; Department of Obstetrics and Gynecology, The Jikei University School of Medicine, Tokyo, 105-8471, Japan.
Umezawa A; Center for Regenerative Medicine, National Center for Child Health and Development Research Institute, 2-10-1 Okura, Setagaya, Tokyo, 157-8535, Japan. .
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Źródło :
Stem cell research & therapy [Stem Cell Res Ther] 2021 Aug 25; Vol. 12 (1), pp. 476. Date of Electronic Publication: 2021 Aug 25.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Induced Pluripotent Stem Cells*
Trisomy*/genetics
Animals ; Cell Differentiation ; Keratinocytes ; Mice ; Phenotype
Czasopismo naukowe
Tytuł :
[Clinical significance of non-invasive prenatal testing in preventing birth defects].
Autorzy :
Zhang W; Office of Prenatal Diagnosis and Management, Jiaxing Maternal and Child Health Care Hospital, Zhejiang 314051, China. .
Li S
Tang P
Wang J
Gu S
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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] 2020 Oct 10; Vol. 37 (10), pp. 1061-1064.
Typ publikacji :
Journal Article
MeSH Terms :
Prenatal Diagnosis/*methods
Trisomy/*diagnosis
Aneuploidy ; Down Syndrome/diagnosis ; Down Syndrome/genetics ; Female ; Humans ; Infant, Newborn ; Karyotyping ; Pregnancy ; Trisomy/genetics ; Trisomy 13 Syndrome/diagnosis ; Trisomy 13 Syndrome/genetics ; Trisomy 18 Syndrome/diagnosis ; Trisomy 18 Syndrome/genetics
Czasopismo naukowe
Tytuł :
Prenatal diagnosis of partial monosomy 8p (8p23.2→pter) and partial trisomy 15q (15q21.2→qter) and incidental detection of a familial chromosome translocation of paternal origin in a pregnancy associated with increased nuchal translucency and an abnormal maternal serum screening result.
Autorzy :
Chen CP; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Biotechnology, Asia University, Taichung, 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: .
Ko TM; Genephile Bioscience Laboratory, Ko's Obstetrics and Gynecology, Taipei, Taiwan.
Wang LK; 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.
Chen SW; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
Wu FT; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
Chen LF; 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] 2021 Jul; Vol. 60 (4), pp. 775-777.
Typ publikacji :
Case Reports
MeSH Terms :
Abnormalities, Multiple/*diagnosis
Translocation, Genetic/*genetics
Trisomy/*diagnosis
Abnormalities, Multiple/embryology ; Abnormalities, Multiple/genetics ; Abortion, Eugenic ; Adult ; Chorionic Villi Sampling ; Chromosome Deletion ; Chromosomes, Human, Pair 15/genetics ; Chromosomes, Human, Pair 8/genetics ; Comparative Genomic Hybridization ; Cytogenetic Analysis ; Female ; Humans ; Incidental Findings ; Male ; Maternal Serum Screening Tests ; Nuchal Translucency Measurement ; Paternal Inheritance/genetics ; Pregnancy ; Trisomy/genetics
SCR Disease Name :
Chromosome 15q, trisomy; Chromosome 8, monosomy 8p
Raport
Tytuł :
Perinatal diagnosis of a fetus with an unbalanced translocation 46,XY,der(10)t(6;10)(p22;q26.1) with multiple malformations:a case report and literature review.
Autorzy :
Ishibashi M; Iwase General Hospital, Department of Obstetrics and Gynecology, Iwase General Hospital.; Department of Obstetrics and Gynecology, Fukushima Medical University School of Medicine.
Watanabe T; Department of Obstetrics and Gynecology, Fukushima Medical University School of Medicine.
Kyozuka H; Department of Obstetrics and Gynecology, Fukushima Medical University School of Medicine.
Yamaguchi A; Department of Obstetrics and Gynecology, Fukushima Medical University School of Medicine.
Sato K; Department of Pediatrics, Fukushima Medical University School of Medicine.
Sato M; Department of Pediatrics, Fukushima Medical University School of Medicine.
Go H; Department of Pediatrics, Fukushima Medical University School of Medicine.
Fujimori K; Department of Obstetrics and Gynecology, Fukushima Medical University School of Medicine.
Pokaż więcej
Źródło :
Fukushima journal of medical science [Fukushima J Med Sci] 2021 Aug 27; Vol. 67 (2), pp. 83-88. Date of Electronic Publication: 2021 May 15.
Typ publikacji :
Case Reports; Journal Article; Review
MeSH Terms :
Abnormalities, Multiple*/genetics
Trisomy*
Chromosomes, Human, Pair 6/genetics ; Female ; Fetus ; Humans ; Male ; Pregnancy ; Translocation, Genetic
Czasopismo naukowe
Tytuł :
[Prenatal diagnosis of a rare case with de novo partial 21q(21q22.1→ qter) trisomy syndrome and absent nasal bone].
Autorzy :
Chen J; Center for Prenatal Diagnosis, Xiamen Maternity and Child Health Care Hospital, Xiamen, Fujian 361003, China. .
Sheng N
Cai M
Ge Y
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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] 2021 Aug 10; Vol. 38 (8), pp. 783-786.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Nasal Bone*
Trisomy*/genetics
Female ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Pregnancy ; Prenatal Diagnosis
Czasopismo naukowe
Tytuł :
Partial Trisomy of Chromosome 8q and Partial Monosomy of Chromosome 6p with Robinow Syndrome-Like Phenotype.
Autorzy :
Nilay M; Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Raebareli Road, Uttar Pradesh, 226014, Lucknow, India.
Srivastava P; Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Raebareli Road, Uttar Pradesh, 226014, Lucknow, India.
Rai A; Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Raebareli Road, Uttar Pradesh, 226014, Lucknow, India.
Phadke SR; Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Raebareli Road, Uttar Pradesh, 226014, Lucknow, India. .
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Źródło :
Indian journal of pediatrics [Indian J Pediatr] 2021 Aug; Vol. 88 (8), pp. 813-818. Date of Electronic Publication: 2021 May 22.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Chromosome Deletion*
Trisomy*/genetics
Chromosomes ; Craniofacial Abnormalities ; Dwarfism ; Humans ; Limb Deformities, Congenital ; Male ; Phenotype ; Urogenital Abnormalities
SCR Disease Name :
Robinow Syndrome
Czasopismo naukowe
Tytuł :
Trisomy 21-associated increases in chromosomal instability are unmasked by comparing isogenic trisomic/disomic leukocytes from people with mosaic Down syndrome.
Autorzy :
Rafferty K; Department of Human & Molecular Genetics, Virginia Commonwealth University, Richmond, Virginia, United States of America.; Department of Pathology, Virginia Commonwealth University, Richmond, Virginia, United States of America.
Archer KJ; Division of Biostatistics, College of Public Health, The Ohio State University, Columbus, Ohio, United States of America.
Turner K; Department of Pathology, Virginia Commonwealth University, Richmond, Virginia, United States of America.
Brown R; Department of Psychiatry, Virginia Commonwealth University, Richmond, Virginia, United States of America.
Jackson-Cook C; Department of Human & Molecular Genetics, Virginia Commonwealth University, Richmond, Virginia, United States of America.; Department of Pathology, Virginia Commonwealth University, Richmond, Virginia, United States of America.
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Źródło :
PloS one [PLoS One] 2021 Jul 20; Vol. 16 (7), pp. e0254806. Date of Electronic Publication: 2021 Jul 20 (Print Publication: 2021).
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
Chromosomal Instability/*genetics
Down Syndrome/*genetics
Trisomy/*genetics
Uniparental Disomy/*genetics
Adolescent ; Adult ; Aneuploidy ; Child ; Child, Preschool ; Chromosomal Instability/physiology ; Chromosomes, Human, Pair 21/genetics ; Cross-Sectional Studies ; Down Syndrome/diagnosis ; Female ; Genotype ; Humans ; Infant ; Leukocytes/metabolism ; Male ; Mosaicism ; Phenotype ; Trisomy/diagnosis ; Uniparental Disomy/diagnosis
SCR Disease Name :
Chromosome 21, uniparental disomy of
Czasopismo naukowe

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