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Wyszukujesz frazę ""Mosaicism"" wg kryterium: Temat


Tytuł :
Planting the seed of doubt: the diagnosis and management of mosaic embryos.
Autorzy :
Feinberg EC; Department of Obstetrics and Gynecology, Division of Reproductive Endocrinology and Infertility, Northwestern University Feinberg School of Medicine, Chicago, Illinois. Electronic address: .
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Źródło :
Fertility and sterility [Fertil Steril] 2021 Nov; Vol. 116 (5), pp. 1203-1204.
Typ publikacji :
Introductory Journal Article
MeSH Terms :
Genetic Testing*
Mosaicism*
Prenatal Diagnosis*
Blastocyst/*pathology
Infertility/*therapy
Reproductive Techniques, Assisted/*adverse effects
Aneuploidy ; Embryo Transfer ; Female ; Genetic Counseling ; Humans ; Infertility/diagnosis ; Infertility/physiopathology ; Male ; Predictive Value of Tests ; Pregnancy ; Reproducibility of Results ; Treatment Outcome
Czasopismo naukowe
Tytuł :
The "mosaic" embryo: misconceptions and misinterpretations in preimplantation genetic testing for aneuploidy.
Autorzy :
Treff NR; Genomic Prediction Inc., North Brunswick, New Jersey; Department of Obstetrics, Gynecology, and Reproductive Sciences, Rutgers University, New Brunswick, New Jersey. Electronic address: .
Marin D; Genomic Prediction Inc., North Brunswick, New Jersey.
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Źródło :
Fertility and sterility [Fertil Steril] 2021 Nov; Vol. 116 (5), pp. 1205-1211. Date of Electronic Publication: 2021 Jul 23.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Genetic Testing*
Mosaicism*
Prenatal Diagnosis*
Blastocyst/*pathology
Infertility/*therapy
Reproductive Techniques, Assisted/*adverse effects
Aneuploidy ; Embryo Transfer ; Female ; Genetic Counseling ; Humans ; Infertility/diagnosis ; Infertility/physiopathology ; Male ; Predictive Value of Tests ; Pregnancy ; Reproducibility of Results ; Risk Assessment ; Risk Factors ; Treatment Outcome
Czasopismo naukowe
Tytuł :
Let the data do the talking: the need to consider mosaicism during embryo selection.
Autorzy :
Viotti M; Zouves Foundation for Reproductive Medicine, Foster City, California; Zouves Fertility Center, Foster City, California. Electronic address: .
McCoy RC; Department of Biology, Johns Hopkins University, Baltimore, Maryland.
Griffin DK; School of Biosciences, University of Kent, Canterbury, United Kingdom.
Spinella F; Molecular Genetics Laboratories, Eurofins Genoma Group, Rome, Italy.
Greco E; Center for Reproductive Medicine, Villa Mafalda, Rome, Italy; Department of Obstetrics and Gynecology, UniCamillus International Medical University, Rome, Italy.
Madjunkov M; CReATe Fertility Centre, Toronto, Ontario, Canada; Department of Obstetrics and Gynecology, University of Toronto, Toronto, Ontario, Canada.
Madjunkova S; CReATe Fertility Centre, Toronto, Ontario, Canada; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.
Librach CL; CReATe Fertility Centre, Toronto, Ontario, Canada; Department of Obstetrics and Gynecology, University of Toronto, Toronto, Ontario, Canada; Institute of Medical Sciences and Department of Physiology, University of Toronto, Toronto, Ontario, Canada.
Victor AR; Zouves Fertility Center, Foster City, California; School of Biosciences, University of Kent, Canterbury, United Kingdom.
Barnes FL; Zouves Foundation for Reproductive Medicine, Foster City, California; Zouves Fertility Center, Foster City, California.
Zouves CG; Zouves Foundation for Reproductive Medicine, Foster City, California; Zouves Fertility Center, Foster City, California.
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Źródło :
Fertility and sterility [Fertil Steril] 2021 Nov; Vol. 116 (5), pp. 1212-1219. Date of Electronic Publication: 2021 Oct 07.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Review
MeSH Terms :
Genetic Testing*
Mosaicism*
Prenatal Diagnosis*
Blastocyst/*pathology
Infertility/*therapy
Reproductive Techniques, Assisted/*adverse effects
Aneuploidy ; Embryo Transfer ; Female ; Genetic Counseling ; Humans ; Infertility/diagnosis ; Infertility/physiopathology ; Male ; Predictive Value of Tests ; Pregnancy ; Reproducibility of Results ; Treatment Outcome
Czasopismo naukowe
Tytuł :
Evidence-based management of preimplantation chromosomal mosaicism: lessons from the clinic.
Autorzy :
Besser AG; NYU Langone Prelude Fertility Center, New York, New York. Electronic address: .
Mounts EL; ORM Fertility, Portland, Oregon.
Grifo JA; NYU Langone Prelude Fertility Center, New York, New York.
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Źródło :
Fertility and sterility [Fertil Steril] 2021 Nov; Vol. 116 (5), pp. 1220-1224. Date of Electronic Publication: 2021 Aug 07.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Genetic Testing*
Mosaicism*
Prenatal Diagnosis*
Blastocyst/*pathology
Infertility/*therapy
Reproductive Techniques, Assisted/*adverse effects
Aneuploidy ; Embryo Transfer ; Female ; Genetic Counseling ; Humans ; Infertility/diagnosis ; Infertility/physiopathology ; Male ; Predictive Value of Tests ; Pregnancy ; Reproducibility of Results ; Risk Assessment ; Risk Factors ; Treatment Outcome
Czasopismo naukowe
Tytuł :
[Genetic analysis of a fetus with mosaicism of structural aberration of Y chromosome].
Autorzy :
Xing H; Langfang Maternal and Child Health Care Hospital, Hebei 065000, China. .
Yang K
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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 Dec 10; Vol. 38 (12), pp. 1250-1253.
Typ publikacji :
Journal Article
MeSH Terms :
Mosaicism*
Prenatal Diagnosis*
Chromosomes, Human, Y/genetics ; Female ; Fetus ; Humans ; In Situ Hybridization, Fluorescence ; Karyotype ; Pregnancy
Czasopismo naukowe
Tytuł :
The dominant strain of SARS-CoV-2 is a mosaicism.
Autorzy :
Wang W; Shandong Provincial Key Laboratory of Animal Resistance Biology, College of Life Science, Shandong Normal University, Jinan, Shandong 250014, China.
Li CP; Shandong Provincial Key Laboratory of Animal Resistance Biology, College of Life Science, Shandong Normal University, Jinan, Shandong 250014, China.
He M; Shandong Provincial Key Laboratory of Animal Resistance Biology, College of Life Science, Shandong Normal University, Jinan, Shandong 250014, China.
Li SW; Shandong Provincial Key Laboratory of Animal Resistance Biology, College of Life Science, Shandong Normal University, Jinan, Shandong 250014, China.
Cao L; Shandong Provincial Key Laboratory of Animal Resistance Biology, College of Life Science, Shandong Normal University, Jinan, Shandong 250014, China.
Ding NZ; Shandong Provincial Key Laboratory of Animal Resistance Biology, College of Life Science, Shandong Normal University, Jinan, Shandong 250014, China.
He CQ; Shandong Provincial Key Laboratory of Animal Resistance Biology, College of Life Science, Shandong Normal University, Jinan, Shandong 250014, China. Electronic address: .
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Źródło :
Virus research [Virus Res] 2021 Nov; Vol. 305, pp. 198553. Date of Electronic Publication: 2021 Sep 04.
Typ publikacji :
Historical Article; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Evolution, Molecular*
Genome, Viral*
Homologous Recombination*
Mosaicism*
COVID-19/*epidemiology
SARS-CoV-2/*genetics
Americas/epidemiology ; Asia/epidemiology ; Base Sequence ; COVID-19/history ; COVID-19/transmission ; COVID-19/virology ; Europe/epidemiology ; Genomics/methods ; History, 21st Century ; Humans ; Mutation ; Phylogeny ; SARS-CoV-2/classification ; SARS-CoV-2/pathogenicity
Czasopismo naukowe
Tytuł :
GOPC-ROS1 mosaicism in agminated Spitz naevi: report of two cases.
Autorzy :
Goto K; Department of Pathology, Tokyo Metropolitan Cancer and Infectious Disease Center Komagome Hospital, Tokyo, Japan.; Department of Pathology, Itabashi Central Clinical Laboratory, Tokyo, Japan.; Department of Diagnostic Pathology, Shizuoka Cancer Center Hospital, Nagaizumi, Japan.; Department of Diagnostic Pathology and Cytology, Osaka International Cancer Institute, Osaka, Japan.; Department of Dermatology, Hyogo Cancer Center, Akashi, Japan.
Pissaloux D; Department of Biopathology, Center Léon Bérard, 28, rue Laennec, 69008, Lyon, France.; Centre Léon Bérard, Cancer Research Center of Lyon, Equipe Labellisée Ligue contre le Cancer, Université de Lyon, Université Claude Bernard Lyon 1, INSERM 1052, CNRS 5286, Lyon, France.
Kauer F; MVZ Pathologie am Bundeswehrkrankenhaus, Berlin, Germany.
Huriet V; Centre de Pathologie, Nancy, France.
Tirode F; Department of Biopathology, Center Léon Bérard, 28, rue Laennec, 69008, Lyon, France.; Centre Léon Bérard, Cancer Research Center of Lyon, Equipe Labellisée Ligue contre le Cancer, Université de Lyon, Université Claude Bernard Lyon 1, INSERM 1052, CNRS 5286, Lyon, France.
de la Fouchardière A; Department of Biopathology, Center Léon Bérard, 28, rue Laennec, 69008, Lyon, France. .; Centre Léon Bérard, Cancer Research Center of Lyon, Equipe Labellisée Ligue contre le Cancer, Université de Lyon, Université Claude Bernard Lyon 1, INSERM 1052, CNRS 5286, Lyon, France. .
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Źródło :
Virchows Archiv : an international journal of pathology [Virchows Arch] 2021 Sep; Vol. 479 (3), pp. 559-564. Date of Electronic Publication: 2021 Mar 17.
Typ publikacji :
Journal Article
MeSH Terms :
Gene Fusion*
Mosaicism*
Adaptor Proteins, Signal Transducing/*genetics
Biomarkers, Tumor/*genetics
Golgi Matrix Proteins/*genetics
Nevus, Epithelioid and Spindle Cell/*genetics
Protein-Tyrosine Kinases/*genetics
Proto-Oncogene Proteins/*genetics
Skin Neoplasms/*genetics
Female ; Genetic Predisposition to Disease ; Humans ; In Situ Hybridization, Fluorescence ; Male ; Melanocytes/pathology ; Nevus, Epithelioid and Spindle Cell/pathology ; Phenotype ; Sequence Analysis, RNA ; Skin Neoplasms/pathology ; Whole Exome Sequencing ; Young Adult
Czasopismo naukowe
Tytuł :
Genetic mosaicism, intrafamilial phenotypic heterogeneity, and molecular defects of a novel missense SLC6A1 mutation associated with epilepsy and ADHD.
Autorzy :
Poliquin S; The Neuroscience Program, versity, Nashville, TN 37232, USA.
Hughes I; Department of Neurology, University of Rochester Medical Center, Rochester, NY 14642, USA.
Shen W; Department of Neurology, Vanderbilt University Medical Center, Nashville, TN, 37232, United States of America.
Mermer F; Department of Neurology, Vanderbilt University Medical Center, Nashville, TN, 37232, United States of America.
Wang J; Department of Electrical Engineering & Computer Science and Christopher S. Bond Life Sciences Center, University of Missouri, Columbia, MO 65211, USA.
Mack T; The Neuroscience Program, versity, Nashville, TN 37232, USA.
Xu D; Department of Electrical Engineering & Computer Science and Christopher S. Bond Life Sciences Center, University of Missouri, Columbia, MO 65211, USA.
Kang JQ; Department of Neurology, Vanderbilt University Medical Center, Nashville, TN, 37232, United States of America. Electronic address: .
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Źródło :
Experimental neurology [Exp Neurol] 2021 Aug; Vol. 342, pp. 113723. Date of Electronic Publication: 2021 May 05.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Mosaicism*
Phenotype*
Attention Deficit Disorder with Hyperactivity/*genetics
Epilepsy/*genetics
GABA Plasma Membrane Transport Proteins/*genetics
Mutation, Missense/*genetics
Adolescent ; Animals ; Attention Deficit Disorder with Hyperactivity/complications ; Attention Deficit Disorder with Hyperactivity/diagnosis ; Cells, Cultured ; Child ; Epilepsy/complications ; Epilepsy/diagnosis ; Female ; GABA Plasma Membrane Transport Proteins/chemistry ; HEK293 Cells ; Humans ; Mice ; Pedigree ; Protein Structure, Secondary ; Siblings
Czasopismo naukowe
Tytuł :
The significance of rare chromosomal abnormalities and fetoplacental mosaicism in prenatal diagnosis in the non-invasive prenatal testing era
Autorzy :
Tidrenczel Z; 1 Magyar Honvédség Egészségügyi Központ, Szülészet-Nőgyógyászati Osztály, Genetikai Centrum, Budapest, Podmaniczky u. 111., 1062.
P Tardy E; 2 Magyar Honvédség Egészségügyi Központ, Központi Laboratóriumi Diagnosztikai Osztály, Budapest.
Böjtös I; 2 Magyar Honvédség Egészségügyi Központ, Központi Laboratóriumi Diagnosztikai Osztály, Budapest.
Sarkadi E; 2 Magyar Honvédség Egészségügyi Központ, Központi Laboratóriumi Diagnosztikai Osztály, Budapest.
Simon J; 2 Magyar Honvédség Egészségügyi Központ, Központi Laboratóriumi Diagnosztikai Osztály, Budapest.
Pikó H; 3 Semmelweis Egyetem, Általános Orvostudományi Kar, PentaCore Laboratórium és I. Belgyógyászati Klinika, Budapest.
Vermes G; 1 Magyar Honvédség Egészségügyi Központ, Szülészet-Nőgyógyászati Osztály, Genetikai Centrum, Budapest, Podmaniczky u. 111., 1062.
Demeter J; 1 Magyar Honvédség Egészségügyi Központ, Szülészet-Nőgyógyászati Osztály, Genetikai Centrum, Budapest, Podmaniczky u. 111., 1062.
Beke A; 4 Semmelweis Egyetem, Általános Orvostudományi Kar, Szülészeti és Nőgyógyászati Klinika, Budapest.
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Transliterated Title :
A ritka kromoszóma-rendellenességek és a fetoplacentaris mozaikosság jelentősége a praenatalis diagnosztikában a nem invazív szűrővizsgálatok tükrében.
Źródło :
Orvosi hetilap [Orv Hetil] 2021 Jul 18; Vol. 162 (29), pp. 1156-1165. Date of Electronic Publication: 2021 Jul 18.
Typ publikacji :
Journal Article
MeSH Terms :
Mosaicism*
Prenatal Diagnosis*
Female ; Humans ; Male ; Pregnancy ; Prevalence ; Retrospective Studies ; Ultrasonography
Czasopismo naukowe
Tytuł :
Implications of mosaicism in variant interpretation: A case of a de novo homozygous NF1 variant.
Autorzy :
Alghamdi M; Medical Genetics Division, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia; King Saud University Medical City, Riyadh, Saudi Arabia. Electronic address: .
Monies D; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Alsohime F; King Saud University Medical City, Riyadh, Saudi Arabia; Pediatric Intensive Care Unit, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Temsah H; Pediatric Intensive Care Unit, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Almodaihsh F; Hematology Unit, Pathology and Laboratory Medicine Department, King Saud University Medical City, Riyadh, Saudi Arabia.
Aldawasri M; Hematology Unit, Pathology and Laboratory Medicine Department, King Saud University Medical City, Riyadh, Saudi Arabia.
Alsultan A; Hematology and Oncology Division, Department of Pediatrics, King Saud University Medical City, Riyadh, Saudi Arabia.
Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
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Źródło :
European journal of medical genetics [Eur J Med Genet] 2021 Jul; Vol. 64 (7), pp. 104236. Date of Electronic Publication: 2021 May 20.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Mosaicism*
Cafe-au-Lait Spots/*genetics
Leukemia, Myelomonocytic, Juvenile/*genetics
Neurofibromin 1/*genetics
Bone Marrow Cells/metabolism ; Cafe-au-Lait Spots/pathology ; Cells, Cultured ; Crossing Over, Genetic ; Fibroblasts/metabolism ; Gene Conversion ; Genetic Testing/methods ; Homozygote ; Humans ; Infant ; Leukemia, Myelomonocytic, Juvenile/pathology ; Male ; Mitosis ; Mutation ; Pedigree
Czasopismo naukowe
Tytuł :
Decoding and rejuvenating human ageing genomes: Lessons from mosaic chromosomal alterations.
Autorzy :
Dai X; School of Life Sciences, Yunnan Normal University, Kunming, Yunnan, 650500, China.
Guo X; School of Life Sciences, Yunnan Normal University, Kunming, Yunnan, 650500, China; The Engineering Research Center of Sustainable Development and Utilization of Biomass Energy, Ministry of Education, Kunming, Yunnan, 650500, China; Yunnan Environmental Mutagen Society, Kunming, Yunnan, 650500, China. Electronic address: .
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Źródło :
Ageing research reviews [Ageing Res Rev] 2021 Jul; Vol. 68, pp. 101342. Date of Electronic Publication: 2021 Apr 15.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms :
Mosaicism*
Neoplasms*/genetics
Aging/genetics ; Animals ; Genome, Human/genetics ; Humans ; Mice ; Mutation
Czasopismo naukowe
Tytuł :
The morphokinetic signature of mosaic embryos: evidence in support of their own genetic identity.
Autorzy :
Martín Á; IVI Foundation, Health Research Institute La Fe, Valencia, Spain.
Rodrigo L; Igenomix, Paterna, Spain.
Beltrán D; IVI RMA, Valencia, Spain.
Meseguer M; IVI Foundation, Health Research Institute La Fe, Valencia, Spain; IVI RMA, Valencia, Spain.
Rubio C; Igenomix, Paterna, Spain.
Mercader A; IVI Foundation, Health Research Institute La Fe, Valencia, Spain; IVI RMA, Valencia, Spain.
de Los Santos MJ; IVI Foundation, Health Research Institute La Fe, Valencia, Spain; IVI RMA, Valencia, Spain. Electronic address: .
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Źródło :
Fertility and sterility [Fertil Steril] 2021 Jul; Vol. 116 (1), pp. 165-173. Date of Electronic Publication: 2021 Mar 22.
Typ publikacji :
Comparative Study; Journal Article
MeSH Terms :
Gene Expression Profiling*
Mosaicism*
Transcriptome*
Blastocyst/*pathology
Embryo Culture Techniques ; Gene Expression Regulation, Developmental ; Genetic Testing ; High-Throughput Nucleotide Sequencing ; Humans ; Ploidies ; Predictive Value of Tests ; Preimplantation Diagnosis ; Retrospective Studies ; Sperm Injections, Intracytoplasmic ; Time-Lapse Imaging
Czasopismo naukowe
Tytuł :
[Prenatal cytogenetic and molecular genetic analysis of a fetus with confined placenta mosaicism for trisomy 16].
Autorzy :
Jiao Z; Genetics and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. .
Zhu C
Hou Y
Wang L
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 Aug 10; Vol. 38 (8), pp. 771-774.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Chromosomes, Human, Pair 16*/genetics
Mosaicism*
Amniocentesis ; Cytogenetic Analysis ; Female ; Fetus ; Humans ; In Situ Hybridization, Fluorescence ; Molecular Biology ; Placenta ; Pregnancy ; Prenatal Diagnosis ; Trisomy/genetics
SCR Disease Name :
Chromosome 16, trisomy
Czasopismo naukowe
Tytuł :
GIGYF1 loss of function is associated with clonal mosaicism and adverse metabolic health.
Autorzy :
Zhao Y; MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge, Cambridge, UK.
Stankovic S; MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge, Cambridge, UK.
Koprulu M; MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge, Cambridge, UK.
Wheeler E; MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge, Cambridge, UK.
Day FR; MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge, Cambridge, UK.
Lango Allen H; MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge, Cambridge, UK.
Kerrison ND; MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge, Cambridge, UK.
Pietzner M; MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge, Cambridge, UK.
Loh PR; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Wareham NJ; MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge, Cambridge, UK.
Langenberg C; MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge, Cambridge, UK.
Ong KK; MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge, Cambridge, UK.
Perry JRB; MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge, Cambridge, UK. .
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Źródło :
Nature communications [Nat Commun] 2021 Jul 07; Vol. 12 (1), pp. 4178. Date of Electronic Publication: 2021 Jul 07.
Typ publikacji :
Journal Article; Observational Study; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Genetic Predisposition to Disease*
Mosaicism*
Carrier Proteins/*genetics
Chromosomes, Human, Y/*genetics
Diabetes Mellitus, Type 2/*genetics
Adult ; Aged ; Carrier Proteins/metabolism ; Case-Control Studies ; DNA Mutational Analysis ; Diabetes Mellitus, Type 2/metabolism ; Female ; Genome-Wide Association Study ; Humans ; Insulin/metabolism ; Leukocytes ; Loss of Function Mutation ; Male ; Middle Aged ; Receptor, IGF Type 1/metabolism ; Signal Transduction/genetics ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł :
Whole Exome Sequencing Facilitated the Identification of a Mosaic Small Supernumerary Marker Chromosome (sSMC).
Autorzy :
Xing HX; Prenatal Diagnosis Center, Langfang Maternal and Child Health Care Hospital, Langfang, Hebei 065000, China.
Li PB; Department of Orthopaedics, Langfang Traditional Chinese Medicine Hospital, Langfang, Hebei 065000, China.
Cui LM; Prenatal Diagnosis Center, Langfang Maternal and Child Health Care Hospital, Langfang, Hebei 065000, China.
Jiang JY; Prenatal Diagnosis Center, Langfang Maternal and Child Health Care Hospital, Langfang, Hebei 065000, China.
Hu NN; Prenatal Diagnosis Center, Langfang Maternal and Child Health Care Hospital, Langfang, Hebei 065000, China.
Zhang XB; Prenatal Diagnosis Center, Langfang Maternal and Child Health Care Hospital, Langfang, Hebei 065000, China.
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Źródło :
BioMed research international [Biomed Res Int] 2021 Jul 02; Vol. 2021, pp. 6258527. Date of Electronic Publication: 2021 Jul 02 (Print Publication: 2021).
Typ publikacji :
Journal Article
MeSH Terms :
Mosaicism*
Whole Exome Sequencing*
Chromosomes, Human/*genetics
Adult ; Base Sequence ; Centromere/genetics ; Child, Preschool ; Cytogenetic Analysis ; Family ; Genetic Markers ; Humans ; Male ; Mutation/genetics ; Reproducibility of Results
Czasopismo naukowe
Tytuł :
The Placenta - Fast, Loose, and in Control.
Autorzy :
Costello JF; From the Brain Tumor Center, the Department of Neurological Surgery, and the Helen Diller Family Comprehensive Cancer Center (J.F.C.), and the Eli and Edythe Broad Center of Regeneration Medicine and Stem Cell Research, the Center for Reproductive Sciences, the Department of Obstetrics, Gynecology, and Reproductive Sciences, the Division of Maternal-Fetal Medicine, and the Department of Anatomy (S.J.F.) - all at the University of California, San Francisco, San Francisco.
Fisher SJ; From the Brain Tumor Center, the Department of Neurological Surgery, and the Helen Diller Family Comprehensive Cancer Center (J.F.C.), and the Eli and Edythe Broad Center of Regeneration Medicine and Stem Cell Research, the Center for Reproductive Sciences, the Department of Obstetrics, Gynecology, and Reproductive Sciences, the Division of Maternal-Fetal Medicine, and the Department of Anatomy (S.J.F.) - all at the University of California, San Francisco, San Francisco.
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Źródło :
The New England journal of medicine [N Engl J Med] 2021 Jul 01; Vol. 385 (1), pp. 87-89.
Typ publikacji :
Journal Article
MeSH Terms :
Genetic Testing*
Mosaicism*
Mutation*
Preimplantation Diagnosis*
Placenta/*physiology
Epigenome ; Female ; Humans ; Mutagenesis ; Mutation Rate ; Placenta/cytology ; Pregnancy ; Trophoblasts/cytology ; Trophoblasts/physiology ; Whole Genome Sequencing ; Zygote
Czasopismo naukowe
Tytuł :
Impact of true fetal mosaicism on prenatal screening and diagnosis.
Autorzy :
Lim PT; Department of Obstetrics and Gynaecology, Singapore General Hospital, Singapore.
Yang L
Tan WC
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Źródło :
Annals of the Academy of Medicine, Singapore [Ann Acad Med Singap] 2021 Jul; Vol. 50 (7), pp. 578-579.
Typ publikacji :
Journal Article
MeSH Terms :
Mosaicism*
Prenatal Diagnosis*
Female ; Humans ; Pregnancy ; Prenatal Care ; Trisomy/diagnosis ; Trisomy/genetics
Czasopismo naukowe
Tytuł :
Altered replication stress response due to CARD14 mutations promotes recombination-induced revertant mosaicism.
Autorzy :
Miyauchi T; Department of Dermatology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Hokkaido 060-8638, Japan.
Suzuki S; Department of Dermatology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Hokkaido 060-8638, Japan.
Takeda M; Department of Dermatology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Hokkaido 060-8638, Japan.
Peh JT; Department of Dermatology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Hokkaido 060-8638, Japan.
Aiba M; Department of Dermatology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Hokkaido 060-8638, Japan.
Natsuga K; Department of Dermatology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Hokkaido 060-8638, Japan.
Fujita Y; Department of Dermatology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Hokkaido 060-8638, Japan.
Takeichi T; Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Aichi, 466-8550, Japan.
Sakamoto T; Sakamoto Clinic, Fujieda, Shizuoka 426-0063, Japan.
Akiyama M; Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Aichi, 466-8550, Japan.
Shimizu H; Department of Dermatology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Hokkaido 060-8638, Japan.
Nomura T; Department of Dermatology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Hokkaido 060-8638, Japan; Department of Dermatology, Faculty of Medicine, University of Tsukuba, Tsukuba 305-8575, Japan. Electronic address: .
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Źródło :
American journal of human genetics [Am J Hum Genet] 2021 Jun 03; Vol. 108 (6), pp. 1026-1039. Date of Electronic Publication: 2021 May 17.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
DNA Replication*
Homologous Recombination*
Mosaicism*
Mutation*
Stress, Physiological*
CARD Signaling Adaptor Proteins/*genetics
Guanylate Cyclase/*genetics
Membrane Proteins/*genetics
Pityriasis Rubra Pilaris/*pathology
Psoriasis/*pathology
Cell Cycle ; Humans ; Pityriasis Rubra Pilaris/genetics ; Psoriasis/genetics
Czasopismo naukowe
Tytuł :
Confined placental mosaicism involving multiple de novo copy number variants associated with fetal growth restriction: A case report.
Autorzy :
Del Gobbo GF; BC Children's Hospital Research Institute, Vancouver, Canada.; Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
Yuan V; BC Children's Hospital Research Institute, Vancouver, Canada.; Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
Robinson WP; BC Children's Hospital Research Institute, Vancouver, Canada.; Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
Pokaż więcej
Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2021 Jun; Vol. 185 (6), pp. 1908-1912. Date of Electronic Publication: 2021 Mar 22.
Typ publikacji :
Case Reports; Research Support, Non-U.S. Gov't
MeSH Terms :
Mosaicism*
Fetal Growth Retardation/*genetics
Kisspeptins/*genetics
Renin/*genetics
DNA Copy Number Variations/genetics ; Female ; Fetal Growth Retardation/pathology ; Gene Duplication/genetics ; Humans ; Infant, Newborn ; Male ; Placenta/pathology ; Placenta/ultrastructure ; Pregnancy
Raport

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