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Wyszukujesz frazę ""aneuploidy"" wg kryterium: Temat


Tytuł :
Uptake of fetal aneuploidy screening after the introduction of the non-invasive prenatal test: A national population-based register study.
Autorzy :
van der Meij KRM; Department of Clinical Genetics and Amsterdam Reproduction & Development Research Institute, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.
de Groot-van Mooren M; Department of Pediatrics and Amsterdam Reproduction & Development Research Institute, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.
Carbo EWS; Center for Health Protection, National Institute for Public Health and the Environment, Bilthoven, the Netherlands.
Pieters MJ; Department of Obstetrics and Gynecology, GROW School of Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, the Netherlands.; Foundation Prenatal Screening Southeast Region of the Netherlands, Maastricht, the Netherlands, On Behalf of the Regional Centers for Prenatal Screening, Maastricht, the Netherlands.
Rodenburg W; Center for Health Protection, National Institute for Public Health and the Environment, Bilthoven, the Netherlands.
Sistermans EA; Department of Clinical Genetics and Amsterdam Reproduction & Development Research Institute, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.
Cornel MC; Department of Clinical Genetics and Amsterdam Reproduction & Development Research Institute, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.
Henneman L; Department of Clinical Genetics and Amsterdam Reproduction & Development Research Institute, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.
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Corporate Authors :
Dutch NIPT Consortium
Źródło :
Acta obstetricia et gynecologica Scandinavica [Acta Obstet Gynecol Scand] 2021 Jul; Vol. 100 (7), pp. 1265-1272. Date of Electronic Publication: 2021 Feb 09.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Aneuploidy*
Chromosome Disorders/*diagnosis
Patient Participation/*trends
Prenatal Diagnosis/*trends
Adult ; Down Syndrome/diagnosis ; Female ; Genetic Counseling/trends ; Humans ; Netherlands ; Pregnancy ; Retrospective Studies
Czasopismo naukowe
Tytuł :
[Is it necessary to choose NIPT-plus for pregnant women who opt for non-invasive prenatal testing? A study of 50 cases].
Autorzy :
Dai P; Genetic and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450046, China. .
Zhao G
Gao S
Chen S
Zhang F
Guo W
Kong X
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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 Sep 10; Vol. 38 (9), pp. 895-899.
Typ publikacji :
Journal Article
MeSH Terms :
Aneuploidy*
Pregnant Women*
Female ; Humans ; Pregnancy ; Prenatal Diagnosis ; Trisomy ; Trisomy 13 Syndrome ; Trisomy 18 Syndrome
Czasopismo naukowe
Tytuł :
Acquisition of aneuploidy drives mutant p53-associated gain-of-function phenotypes.
Autorzy :
Redman-Rivera LN; Department of Biochemistry, Vanderbilt University, Nashville, TN, USA.
Shaver TM; Department of Biochemistry, Vanderbilt University, Nashville, TN, USA.; Inscripta, Inc, Boulder, CO, USA.
Jin H; Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN, USA.
Marshall CB; Department of Biochemistry, Vanderbilt University, Nashville, TN, USA.; Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN, USA.
Schafer JM; Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN, USA.; Pelotonia Institute for Immuno-Oncology, The James Comprehensive Cancer Center, The Ohio State University, Columbus, OH, USA.
Sheng Q; Department of Biostatistics, Vanderbilt University Medical Center, Nashville, TN, USA.
Hongo RA; Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Beckermann KE; Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Wheeler FC; Department of Pathology, Microbiology and Immunology, Vanderbilt University Medical Center, Nashville, TN, USA.
Lehmann BD; Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN, USA.; Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Pietenpol JA; Department of Biochemistry, Vanderbilt University, Nashville, TN, USA. .; Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN, USA. .
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Źródło :
Nature communications [Nat Commun] 2021 Aug 31; Vol. 12 (1), pp. 5184. Date of Electronic Publication: 2021 Aug 31.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Aneuploidy*
Gain of Function Mutation*
Neoplasms/*genetics
Tumor Suppressor Protein p53/*genetics
Gene Expression Regulation, Neoplastic ; Humans ; Loss of Function Mutation ; Mutant Proteins/genetics ; Mutant Proteins/metabolism ; Mutation, Missense ; Neoplasms/metabolism ; Tumor Suppressor Protein p53/metabolism
Czasopismo naukowe
Tytuł :
Quantification of aneuploidy in targeted sequencing data using ASCETS.
Autorzy :
Spurr LF; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, 02215 MA, USA.; Cancer Program, Broad Institute of MIT and Harvard, Cambridge, 02142 MA, USA.
Touat M; Cancer Program, Broad Institute of MIT and Harvard, Cambridge, 02142 MA, USA.; Department of Oncologic Pathology, Dana-Farber Cancer Institute, Boston, 02215 MA, USA.; Sorbonne Université, Inserm, CNRS, UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, AP-HP, Hôpitaux Universitaires La Pitié Salpêtrière-Charles Foix, Service de Neurologie, Paris, France.
Taylor AM; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, 02215 MA, USA.; Cancer Program, Broad Institute of MIT and Harvard, Cambridge, 02142 MA, USA.; Department of Pathology and Cell Biology and Herbert Irving Comprehensive Cancer Center, Columbia University Medical Center, New York, 10032 NY, USA.
Dubuc AM; Department of Pathology, Brigham and Women's Hospital, Boston, 02215 MA, USA.
Shih J; Cancer Program, Broad Institute of MIT and Harvard, Cambridge, 02142 MA, USA.
Meredith DM; Department of Oncologic Pathology, Dana-Farber Cancer Institute, Boston, 02215 MA, USA.; Department of Pathology, Brigham and Women's Hospital, Boston, 02215 MA, USA.
Pisano WV; Department of Oncologic Pathology, Dana-Farber Cancer Institute, Boston, 02215 MA, USA.
Meyerson ML; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, 02215 MA, USA.; Cancer Program, Broad Institute of MIT and Harvard, Cambridge, 02142 MA, USA.
Ligon KL; Cancer Program, Broad Institute of MIT and Harvard, Cambridge, 02142 MA, USA.; Department of Oncologic Pathology, Dana-Farber Cancer Institute, Boston, 02215 MA, USA.; Department of Pathology, Brigham and Women's Hospital, Boston, 02215 MA, USA.; Center for Patient Derived Models, Dana-Farber Cancer Institute, Boston, 02215 MA, USA.; Department of Pathology, Boston Children's Hospital, Boston, 02215 MA, USA.
Cherniack AD; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, 02215 MA, USA.; Cancer Program, Broad Institute of MIT and Harvard, Cambridge, 02142 MA, USA.
Li YY; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, 02215 MA, USA.; Cancer Program, Broad Institute of MIT and Harvard, Cambridge, 02142 MA, USA.
Beroukhim R; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, 02215 MA, USA.; Cancer Program, Broad Institute of MIT and Harvard, Cambridge, 02142 MA, USA.; Department of Cancer Biology, Dana-Farber Cancer Institute, Boston, 02215 MA, USA.; Department of Medicine, Brigham and Women's Hospital, Boston, 02215 MA, USA.
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Źródło :
Bioinformatics (Oxford, England) [Bioinformatics] 2021 Aug 25; Vol. 37 (16), pp. 2461-2463.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Aneuploidy*
Software*
Documentation ; Genome ; Genomics ; Humans
Czasopismo naukowe
Tytuł :
Human MLH1/3 variants causing aneuploidy, pregnancy loss, and premature reproductive aging.
Autorzy :
Singh P; Dept of Biomedical Sciences, Cornell University College of Veterinary Medicine, Ithaca, NY, USA.; Preclinical Modeling Core Lab, Fred Hutchinson Cancer Research Center, Seattle, WA, USA.
Fragoza R; Weill Institute for Cell and Molecular Biology, Cornell University, Ithaca, NY, USA.; Department of Molecular Biology and Genetics, Cornell University, Ithaca, NY, USA.
Blengini CS; Rutgers University, Dept. of Genetics, Piscataway, NJ, USA.
Tran TN; Dept of Biomedical Sciences, Cornell University College of Veterinary Medicine, Ithaca, NY, USA.
Pannafino G; Department of Molecular Biology and Genetics, Cornell University, Ithaca, NY, USA.
Al-Sweel N; Department of Molecular Biology and Genetics, Cornell University, Ithaca, NY, USA.
Schimenti KJ; Dept of Biomedical Sciences, Cornell University College of Veterinary Medicine, Ithaca, NY, USA.
Schindler K; Rutgers University, Dept. of Genetics, Piscataway, NJ, USA.
Alani EA; Department of Molecular Biology and Genetics, Cornell University, Ithaca, NY, USA.
Yu H; Weill Institute for Cell and Molecular Biology, Cornell University, Ithaca, NY, USA.; Department of Computational Biology, Cornell University, Ithaca, NY, USA.
Schimenti JC; Dept of Biomedical Sciences, Cornell University College of Veterinary Medicine, Ithaca, NY, USA. .; Department of Molecular Biology and Genetics, Cornell University, Ithaca, NY, USA. .
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Źródło :
Nature communications [Nat Commun] 2021 Aug 18; Vol. 12 (1), pp. 5005. Date of Electronic Publication: 2021 Aug 18.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
Aneuploidy*
Abortion, Spontaneous/*genetics
Embryo Loss/*genetics
MutL Protein Homolog 1/*genetics
MutL Proteins/*genetics
Abortion, Spontaneous/metabolism ; Abortion, Spontaneous/physiopathology ; Alleles ; Animals ; Crossing Over, Genetic ; DNA Mismatch Repair ; Embryo Loss/physiopathology ; Female ; Homologous Recombination ; Humans ; Litter Size ; Male ; Meiosis ; Mice ; MutL Protein Homolog 1/metabolism ; MutL Proteins/metabolism ; Pregnancy ; Reproduction ; Saccharomyces cerevisiae/genetics ; Saccharomyces cerevisiae/metabolism
Czasopismo naukowe
Tytuł :
[Association of fetal cardiac structural abnormalities and chromosomal aneuploidies and copy number variations].
Autorzy :
Hou R; Department of Gynecology, the First Affiliated Hospital of Xinxiang Medical College, Xinxiang, Henan 453100, China. .
Kong F
Zhao S
Guo H
Wang 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] 2021 Aug 10; Vol. 38 (8), pp. 795-797.
Typ publikacji :
Journal Article
MeSH Terms :
Aneuploidy*
DNA Copy Number Variations*
Chromosome Aberrations ; Female ; Fetus ; Humans ; Microarray Analysis ; Pregnancy ; Prenatal Diagnosis ; Ultrasonography, Prenatal
Czasopismo naukowe
Tytuł :
Aneuploidy rates are not higher in women with obesity: Is it worth the "weight" to delay in vitro fertilization until body mass index decreases?
Autorzy :
HogenEsch E; Department of Obstetrics and Gynecology, Division of Reproductive Endocrinology and Infertility, Northwestern University Feinberg School of Medicine, Chicago, Illinois.
Boots C; Department of Obstetrics and Gynecology, Division of Reproductive Endocrinology and Infertility, Northwestern University Feinberg School of Medicine, Chicago, Illinois.
Bernardi LA; Department of Obstetrics and Gynecology, Division of Reproductive Endocrinology and Infertility, Northwestern University Feinberg School of Medicine, Chicago, Illinois.
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Źródło :
Fertility and sterility [Fertil Steril] 2021 Aug; Vol. 116 (2), pp. 339-340. Date of Electronic Publication: 2021 Jul 04.
Typ publikacji :
Editorial; Comment
MeSH Terms :
Aneuploidy*
Fertilization in Vitro*
Body Mass Index ; Female ; Humans ; Obesity/diagnosis ; Obesity/epidemiology ; Obesity/genetics
Opinia redakcyjna
Tytuł :
The cost-effectiveness of preimplantation genetic testing for aneuploidy in the United States: an analysis of cost and birth outcomes from 158,665 in vitro fertilization cycles.
Autorzy :
Lee M; Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA. Electronic address: .
Lofgren KT; Harvard Interfaculty Initiative in Health Policy, Cambridge, MA.
Thomas A; Harvard Pilgrim Health Care Institute, Boston, MA.
Lanes A; Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA.
Goldman R; Department of Obstetrics and Gynecology, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell, Northwell Health, Manhasset, NY.
Ginsburg ES; Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA.
Hornstein MD; Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA.
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Źródło :
American journal of obstetrics and gynecology [Am J Obstet Gynecol] 2021 Jul; Vol. 225 (1), pp. 55.e1-55.e17. Date of Electronic Publication: 2021 Feb 02.
Typ publikacji :
Journal Article
MeSH Terms :
Aneuploidy*
Cost-Benefit Analysis*
Genetic Testing*
Reproductive Techniques, Assisted*/statistics & numerical data
Pregnancy Outcome/*economics
Preimplantation Diagnosis/*economics
Adult ; Age Factors ; Costs and Cost Analysis ; Embryo Transfer ; Female ; Fertilization in Vitro ; Humans ; Live Birth ; Pregnancy ; Preimplantation Diagnosis/methods ; United States
Czasopismo naukowe
Tytuł :
A missense variant in NUF2, a component of the kinetochore NDC80 complex, causes impaired chromosome segregation and aneuploidy associated with microcephaly and short stature.
Autorzy :
Uehara DT; Department of Molecular Cytogenetics, Medical Research Institute, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8510, Japan.
Mitsubuchi H; Department of Neonatology, Kumamoto University Hospital, Kumamoto, Japan.
Inazawa J; Department of Molecular Cytogenetics, Medical Research Institute, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8510, Japan. .; Bioresource Research Center, Tokyo Medical and Dental University, Tokyo, Japan. .
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Źródło :
Human genetics [Hum Genet] 2021 Jul; Vol. 140 (7), pp. 1047-1060. Date of Electronic Publication: 2021 Mar 15.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Aneuploidy*
Chromosome Segregation*
Mutation, Missense*
Abnormalities, Multiple/*genetics
Cell Cycle Proteins/*genetics
Chromosome Disorders/*genetics
Abnormalities, Multiple/pathology ; Adolescent ; Body Height/genetics ; Cell Line ; Chromosome Disorders/pathology ; Cytoskeletal Proteins/genetics ; Down-Regulation ; Growth Disorders/genetics ; Humans ; Male ; Microcephaly/genetics ; Proteasome Endopeptidase Complex/metabolism ; Spindle Apparatus/pathology ; Ubiquitin/metabolism ; Whole Genome Sequencing
Czasopismo naukowe
Tytuł :
Female obesity increases the risk of miscarriage of euploid embryos.
Autorzy :
Cozzolino M; IVI-RMA, IVI Foundation, Valencia, Spain; Department of Obstetrics, Gynecology and Reproductive Sciences, Yale School of Medicine, New Haven, Connecticut; Rey Juan Carlos University, Madrid, Spain. Electronic address: .
García-Velasco JA; Rey Juan Carlos University, Madrid, Spain; IVI-RMA Madrid, Madrid, Spain.
Meseguer M; IVI-RMA, IVI Foundation, Valencia, Spain; IVI-RMA Valencia, Valencia, Spain.
Pellicer A; IVI-RMA, IVI Foundation, Valencia, Spain; IVI-RMA Roma, Rome, Italy; Department of Pediatrics, Obstetrics and Gynecology, Faculty of Medicine, University of Valencia, Valencia, Spain.
Bellver J; IVI-RMA, IVI Foundation, Valencia, Spain; IVI-RMA Valencia, Valencia, Spain; Department of Pediatrics, Obstetrics and Gynecology, Faculty of Medicine, University of Valencia, Valencia, Spain.
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Źródło :
Fertility and sterility [Fertil Steril] 2021 Jun; Vol. 115 (6), pp. 1495-1502. Date of Electronic Publication: 2020 Nov 30.
Typ publikacji :
Journal Article; Multicenter Study; Observational Study; Research Support, Non-U.S. Gov't
MeSH Terms :
Aneuploidy*
Abortion, Spontaneous/*etiology
Blastocyst/*pathology
Embryo Transfer/*adverse effects
Fertilization in Vitro/*adverse effects
Infertility/*therapy
Obesity, Maternal/*complications
Body Mass Index ; Embryo Implantation ; Female ; Genetic Testing ; Gestational Weight Gain ; Humans ; Infertility/complications ; Infertility/diagnosis ; Infertility/physiopathology ; Live Birth ; Obesity, Maternal/diagnosis ; Obesity, Maternal/physiopathology ; Pregnancy ; Pregnancy Rate ; Preimplantation Diagnosis ; Retrospective Studies ; Risk Assessment ; Risk Factors ; Spain ; Treatment Outcome
Czasopismo naukowe
Tytuł :
Massively Parallel Sequencing of Esophageal Brushings Enables an Aneuploidy-Based Classification of Patients With Barrett's Esophagus.
Autorzy :
Douville C; Department of Oncology, the Sidney Kimmel Cancer Center, Johns Hopkins University School of Medicine, Baltimore, Maryland; The Ludwig Center, Johns Hopkins University School of Medicine, Baltimore, Maryland; The Sol Goldman Pancreatic Cancer Research Center, Johns Hopkins University School of Medicine, Baltimore, Maryland; Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, Maryland.
Moinova HR; Department of Medicine, Case Western Reserve University, Cleveland, Ohio.
Thota PN; Department of Gastroenterology and Hepatology, Cleveland Clinic Foundation, Cleveland, Ohio.
Shaheen NJ; Center for Esophageal Diseases and Swallowing, Department of Medicine, University of North Carolina, Chapel Hill, North Carolina.
Iyer PG; Division of Gastroenterology and Hepatology, Mayo Clinic, Rochester, Minnesota.
Canto MI; Department of Oncology, the Sidney Kimmel Cancer Center, Johns Hopkins University School of Medicine, Baltimore, Maryland; Department of Medicine, Johns Hopkins Medical Institutions, Baltimore, Maryland.
Wang JS; Department of Medicine, Washington University in St. Louis, St. Louis, Missouri.
Dumot JA; Department of Medicine, Case Western Reserve University, Cleveland, Ohio.
Faulx A; Department of Medicine, Case Western Reserve University, Cleveland, Ohio.
Kinzler KW; Department of Oncology, the Sidney Kimmel Cancer Center, Johns Hopkins University School of Medicine, Baltimore, Maryland; The Ludwig Center, Johns Hopkins University School of Medicine, Baltimore, Maryland; The Sol Goldman Pancreatic Cancer Research Center, Johns Hopkins University School of Medicine, Baltimore, Maryland; Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, Maryland.
Papadopoulos N; Department of Oncology, the Sidney Kimmel Cancer Center, Johns Hopkins University School of Medicine, Baltimore, Maryland; The Ludwig Center, Johns Hopkins University School of Medicine, Baltimore, Maryland; The Sol Goldman Pancreatic Cancer Research Center, Johns Hopkins University School of Medicine, Baltimore, Maryland; Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, Maryland; Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, Maryland.
Vogelstein B; Department of Oncology, the Sidney Kimmel Cancer Center, Johns Hopkins University School of Medicine, Baltimore, Maryland; The Ludwig Center, Johns Hopkins University School of Medicine, Baltimore, Maryland; The Sol Goldman Pancreatic Cancer Research Center, Johns Hopkins University School of Medicine, Baltimore, Maryland; Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, Maryland; The Howard Hughes Medical Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland.
Markowitz SD; Department of Medicine, Case Western Reserve University, Cleveland, Ohio; Case Comprehensive Cancer Center, Case Western Reserve University, Cleveland, Ohio; Seidman Cancer Center, University Hospitals Cleveland Medical Center, Cleveland, Ohio. Electronic address: .
Bettegowda C; Department of Oncology, the Sidney Kimmel Cancer Center, Johns Hopkins University School of Medicine, Baltimore, Maryland; The Ludwig Center, Johns Hopkins University School of Medicine, Baltimore, Maryland; The Sol Goldman Pancreatic Cancer Research Center, Johns Hopkins University School of Medicine, Baltimore, Maryland; Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, Maryland; Department of Neurosurgery, Johns Hopkins University School of Medicine, Baltimore, Maryland.
Willis JE; Case Comprehensive Cancer Center, Case Western Reserve University, Cleveland, Ohio; Seidman Cancer Center, University Hospitals Cleveland Medical Center, Cleveland, Ohio; Department of Pathology, Case Western Reserve University, Cleveland, Ohio.
Chak A; Department of Medicine, Case Western Reserve University, Cleveland, Ohio; Case Comprehensive Cancer Center, Case Western Reserve University, Cleveland, Ohio; Seidman Cancer Center, University Hospitals Cleveland Medical Center, Cleveland, Ohio. Electronic address: .
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Źródło :
Gastroenterology [Gastroenterology] 2021 May; Vol. 160 (6), pp. 2043-2054.e2. Date of Electronic Publication: 2021 Jan 22.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Validation Study
MeSH Terms :
Aneuploidy*
Adenocarcinoma/*pathology
Barrett Esophagus/*genetics
Barrett Esophagus/*pathology
Esophageal Neoplasms/*pathology
Adenocarcinoma/genetics ; Barrett Esophagus/classification ; Cross-Sectional Studies ; Cytological Techniques ; Disease Progression ; Esophageal Neoplasms/genetics ; Esophagus/pathology ; High-Throughput Nucleotide Sequencing ; Humans
Czasopismo naukowe
Tytuł :
Genetic variation in aneuploidy prevalence and tolerance across Saccharomyces cerevisiae lineages.
Autorzy :
Scopel EFC; Institute of Bioinformatics and Department of Plant Biology, University of Georgia, Athens, GA 30602, USA.
Hose J; Laboratory of Genetics and Center for Genomic Science Innovation, University of Wisconsin-Madison, Madison, WI 53706, USA.
Bensasson D; Institute of Bioinformatics and Department of Plant Biology, University of Georgia, Athens, GA 30602, USA.
Gasch AP; Laboratory of Genetics and Center for Genomic Science Innovation, University of Wisconsin-Madison, Madison, WI 53706, USA.
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Źródło :
Genetics [Genetics] 2021 Apr 15; Vol. 217 (4).
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms :
Aneuploidy*
Genetic Fitness*
Genetic Variation*
Saccharomyces cerevisiae/*genetics
Evolution, Molecular ; Genetic Background
Czasopismo naukowe
Tytuł :
Cell competition removes segmental aneuploid cells from Drosophila imaginal disc-derived tissues based on ribosomal protein gene dose.
Autorzy :
Ji Z; Department of Genetics, Albert Einstein College of Medicine, Bronx, United States.
Chuen J; Department of Genetics, Albert Einstein College of Medicine, Bronx, United States.
Kiparaki M; Department of Genetics, Albert Einstein College of Medicine, Bronx, United States.
Baker N; Department of Genetics, Albert Einstein College of Medicine, Bronx, United States.
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Źródło :
ELife [Elife] 2021 Apr 13; Vol. 10. Date of Electronic Publication: 2021 Apr 13.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
Aneuploidy*
Cell Competition*
Gene Dosage*
Drosophila melanogaster/*physiology
Ribosomal Proteins/*metabolism
Animals ; Drosophila melanogaster/growth & development ; Humans ; Imaginal Discs/growth & development ; Imaginal Discs/physiology ; Neoplasms/genetics
Czasopismo naukowe
Tytuł :
Diminished ovarian reserve is associated with reduced euploid rates via preimplantation genetic testing for aneuploidy independently from age: evidence for concomitant reduction in oocyte quality with quantity.
Autorzy :
Jaswa EG; Department of Obstetrics, Gynecology, and Reproductive Sciences, University of California, San Francisco, California. Electronic address: .
McCulloch CE; Department of Epidemiology and Biostatistics, University of California, San Francisco, California.
Simbulan R; Department of Obstetrics, Gynecology, and Reproductive Sciences, University of California, San Francisco, California.
Cedars MI; Department of Obstetrics, Gynecology, and Reproductive Sciences, University of California, San Francisco, California.
Rosen MP; Department of Obstetrics, Gynecology, and Reproductive Sciences, University of California, San Francisco, California.
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Źródło :
Fertility and sterility [Fertil Steril] 2021 Apr; Vol. 115 (4), pp. 966-973. Date of Electronic Publication: 2021 Feb 12.
Typ publikacji :
Journal Article
MeSH Terms :
Aneuploidy*
Genetic Testing/*trends
Infertility, Female/*therapy
Oocytes/*physiology
Ovarian Reserve/*physiology
Preimplantation Diagnosis/*trends
Adult ; Cohort Studies ; Female ; Genetic Testing/methods ; Humans ; Infertility, Female/diagnosis ; Infertility, Female/epidemiology ; Pregnancy ; Pregnancy Outcome/epidemiology ; Preimplantation Diagnosis/methods ; Retrospective Studies
Czasopismo naukowe
Tytuł :
Noninvasive preimplantation genetic testing for aneuploidy: Is the glass half-empty or half-full?
Autorzy :
Rubio C; Igenomix Foundation, INCLIVA, Valencia, Spain.
Simón C; Igenomix Foundation, INCLIVA, Valencia, Spain; Department of Obstetrics and Gynecology, School of Medicine, Valencia University, Valencia, Spain; Department of Obstetrics and Gynecology, BIDMC Harvard University, Boston, Massachusetts.
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Źródło :
Fertility and sterility [Fertil Steril] 2021 Jun; Vol. 115 (6), pp. 1426-1427.
Typ publikacji :
Editorial; Comment
MeSH Terms :
Aneuploidy*
Genetic Testing*
Humans
Opinia redakcyjna
Tytuł :
Pentasomy 21 in an older adult case of AML with myelodysplastic changes.
Autorzy :
Hayashi S; Department of Internal Medicine, Uji-Tokushukai Medical Center, Uji, Kyoto, Japan.
Miyoshi T; Division of Hematology, Uji-Tokushukai Medical Center, Uji, Kyoto, Japan.
Imashuku S; Division of Hematology, Uji-Tokushukai Medical Center, Uji, Kyoto, Japan.; Department of Laboratory Medicine, Uji-Tokushukai Medical Center, Uji, Kyoto, Japan.
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Źródło :
International journal of laboratory hematology [Int J Lab Hematol] 2021 Jun; Vol. 43 (3), pp. e122-e123. Date of Electronic Publication: 2020 Nov 25.
Typ publikacji :
Case Reports; Letter
MeSH Terms :
Aneuploidy*
Leukemia, Myeloid, Acute/*diagnosis
Leukemia, Myeloid, Acute/*genetics
Myelodysplastic Syndromes/*pathology
Adult ; Biomarkers ; Bone Marrow/pathology ; Humans ; Immunoglobulin E/blood ; Karyotyping ; Leukemia, Myeloid, Acute/blood ; Myelodysplastic Syndromes/blood ; Trisomy
Raport
Tytuł :
Privacy Risks in Prenatal Aneuploidy and Carrier Screening: What Obstetricians and Their Patients Need to Know.
Autorzy :
Parobek CM; Department of Obstetrics and Gynecology and the Division of Maternal Fetal Medicine, Women and Infants Hospital, Brown University, Providence, Rhode Island.
Russo ML
Lewkowitz AK
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Źródło :
Obstetrics and gynecology [Obstet Gynecol] 2021 Jun 01; Vol. 137 (6), pp. 1074-1079.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Aneuploidy*
Genetic Carrier Screening*/ethics
Genetic Privacy*
Laboratories*/organization & administration
Cell-Free Nucleic Acids/analysis ; Databases, Genetic ; Female ; Humans ; Information Dissemination ; Information Storage and Retrieval ; Obstetrics ; Patient Education as Topic ; Pregnancy ; Prenatal Diagnosis ; Risk Factors
Czasopismo naukowe
Tytuł :
Noninvasive preimplantation genetic testing for aneuploidy exhibits high rates of deoxyribonucleic acid amplification failure and poor correlation with results obtained using trophectoderm biopsy.
Autorzy :
Hanson BM; Reproductive Medicine Associates of New Jersey, Basking Ridge, New Jersey; Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, Pennsylvania. Electronic address: .
Tao X; Foundation for Embryonic Competence, Basking Ridge, New Jersey.
Hong KH; Reproductive Medicine Associates of New Jersey, Basking Ridge, New Jersey.
Comito CE; Reproductive Medicine Associates of New Jersey, Basking Ridge, New Jersey.
Pangasnan R; Reproductive Medicine Associates of New Jersey, Basking Ridge, New Jersey.
Seli E; Reproductive Medicine Associates of New Jersey, Basking Ridge, New Jersey; Yale School of Medicine, New Haven, Connecticut.
Jalas C; Foundation for Embryonic Competence, Basking Ridge, New Jersey.
Scott RT Jr; Reproductive Medicine Associates of New Jersey, Basking Ridge, New Jersey; Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, Pennsylvania.
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Źródło :
Fertility and sterility [Fertil Steril] 2021 Jun; Vol. 115 (6), pp. 1461-1470. Date of Electronic Publication: 2021 Mar 19.
Typ publikacji :
Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Aneuploidy*
Noninvasive Prenatal Testing*
Nucleic Acid Amplification Techniques*
Preimplantation Diagnosis*
Sperm Injections, Intracytoplasmic*/adverse effects
Whole Genome Sequencing*
Blastocyst/*pathology
Infertility/*therapy
Blastocyst/metabolism ; Culture Media/metabolism ; Embryo Culture Techniques ; Embryo Implantation ; Embryo Transfer ; Female ; Fertility ; High-Throughput Nucleotide Sequencing ; Humans ; Infertility/diagnosis ; Infertility/physiopathology ; Live Birth ; Male ; Predictive Value of Tests ; Pregnancy ; Pregnancy Rate ; Reproducibility of Results ; Time Factors ; Treatment Outcome
Czasopismo naukowe
Tytuł :
Preimplantation genetic testing to evaluate for mitochondrial deoxyribonucleic acid disease and aneuploidy: a two-birds-with-one-stone approach.
Autorzy :
Hanson BM; IVI-Reproductive Medicine Associates of New Jersey, Basking Ridge, New Jersey; Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, Pennsylvania.
Seli E; IVI-Reproductive Medicine Associates of New Jersey, Basking Ridge, New Jersey; Yale University School of Medicine, New Haven, Connecticut.
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Źródło :
Fertility and sterility [Fertil Steril] 2021 Jun; Vol. 115 (6), pp. 1439-1440. Date of Electronic Publication: 2021 Mar 29.
Typ publikacji :
Editorial; Comment
MeSH Terms :
Aneuploidy*
Genetic Testing*
Animals ; Birds ; DNA ; Humans
Opinia redakcyjna

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