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Tytuł:
The hospital Israelita Albert Einstein standards for constitutional sequence variants classification: version 2023.
Autorzy:
Quaio CRDC; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil. .
Ceroni JRM; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil.
Pereira MA; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil.; VarsOmics, Hospital Israelita Albert Einstein, São Paulo, SP, Brazil.
Teixeira ACB; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil.
Yamada RY; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil.
Cintra VP; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil.
Perrone E; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil.
De França M; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil.
Chen K; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil.
Minillo RM; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil.
Biondo CA; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil.
de Mello MRB; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil.
Moura LR; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil.
do Nascimento ATB; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil.
de Oliveira Pelegrino K; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil.
de Lima LB; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil.
do Amaral Virmond L; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil.
Moreno CA; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil.
Prota JRM; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil.
de Araujo Espolaor JG; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil.
Silva TYT; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil.
Moraes GHI; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil.; VarsOmics, Hospital Israelita Albert Einstein, São Paulo, SP, Brazil.
de Oliveira GS; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil.; VarsOmics, Hospital Israelita Albert Einstein, São Paulo, SP, Brazil.
Moura LMS; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil.; VarsOmics, Hospital Israelita Albert Einstein, São Paulo, SP, Brazil.
Caraciolo MP; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil.; VarsOmics, Hospital Israelita Albert Einstein, São Paulo, SP, Brazil.
Guedes RLM; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil.; VarsOmics, Hospital Israelita Albert Einstein, São Paulo, SP, Brazil.
Gretschischkin MC; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil.; VarsOmics, Hospital Israelita Albert Einstein, São Paulo, SP, Brazil.
Chazanas PLN; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil.; VarsOmics, Hospital Israelita Albert Einstein, São Paulo, SP, Brazil.
Nakamura CNI; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil.; VarsOmics, Hospital Israelita Albert Einstein, São Paulo, SP, Brazil.
de Souza Reis R; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil.; VarsOmics, Hospital Israelita Albert Einstein, São Paulo, SP, Brazil.
Toledo CM; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil.; VarsOmics, Hospital Israelita Albert Einstein, São Paulo, SP, Brazil.
Lage FSD; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil.; VarsOmics, Hospital Israelita Albert Einstein, São Paulo, SP, Brazil.
de Almeida GB; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil.; VarsOmics, Hospital Israelita Albert Einstein, São Paulo, SP, Brazil.
do Nascimento Júnior JB; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil.; VarsOmics, Hospital Israelita Albert Einstein, São Paulo, SP, Brazil.
Cardoso MA; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil.; VarsOmics, Hospital Israelita Albert Einstein, São Paulo, SP, Brazil.
de Paula Azevedo V; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil.; VarsOmics, Hospital Israelita Albert Einstein, São Paulo, SP, Brazil.
de Almeida TF; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil.
Cervato MC; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil.; VarsOmics, Hospital Israelita Albert Einstein, São Paulo, SP, Brazil.
de Oliveira Filho JB; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil. .
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Źródło:
Human genomics [Hum Genomics] 2023 Nov 16; Vol. 17 (1), pp. 102. Date of Electronic Publication: 2023 Nov 16.
Typ publikacji:
Journal Article
MeSH Terms:
Genetic Variation*
Genetic Testing*
Humans ; United States ; Mutation ; Reproducibility of Results ; Bayes Theorem ; Genome, Human
Czasopismo naukowe
Szczegóły
Tytuł:
Genetic Testing Guidelines Impact Care in Newborns with Congenital Heart Defects.
Autorzy:
Durbin MD; Division of Neonatal-Perinatal Medicine, Department of Pediatrics, Riley Hospital for Children, Indiana University School of Medicine, Indianapolis, IN.
Fairman K; Division of Neonatal-Perinatal Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO.
Helvaty LR; Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN.
Huang M; Department of Epidemiology and Biostatistics, Indiana University Bloomington School of Public Health, Bloomington, IN.
Li M; Department of Epidemiology and Biostatistics, Indiana University Bloomington School of Public Health, Bloomington, IN.
Abreu D; Indiana University School of Medicine, Indianapolis, IN.
Geddes GC; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN.
Helm BM; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN.
Landis BJ; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN; Division of Pediatric Cardiology, Department of Pediatrics, Riley Hospital for Children, Indiana University School of Medicine, Indianapolis, IN.
McEntire A; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN.
Mitchell DK; Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN.
Ware SM; Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN. Electronic address: .
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Źródło:
The Journal of pediatrics [J Pediatr] 2023 Sep; Vol. 260, pp. 113495. Date of Electronic Publication: 2023 May 20.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
MeSH Terms:
Genetic Testing*/methods
Heart Defects, Congenital*/diagnosis
Heart Defects, Congenital*/genetics
Heart Defects, Congenital*/epidemiology
Humans ; Infant, Newborn ; Retrospective Studies ; Cross-Sectional Studies ; Microarray Analysis
Czasopismo naukowe
Szczegóły
Tytuł:
BRASS: Permutation methods for binary traits in genetic association studies with structured samples.
Autorzy:
Mbatchou J; Regeneron Genetics Center, Tarrytown, New York, United States of America.; Department of Statistics, The University of Chicago, Chicago, Illinois, United States of America.
Abney M; Department of Human Genetics, The University of Chicago, Chicago, Illinois, United States of America.
McPeek MS; Department of Statistics, The University of Chicago, Chicago, Illinois, United States of America.; Department of Human Genetics, The University of Chicago, Chicago, Illinois, United States of America.
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Źródło:
PLoS genetics [PLoS Genet] 2023 Nov 07; Vol. 19 (11), pp. e1011020. Date of Electronic Publication: 2023 Nov 07 (Print Publication: 2023).
Typ publikacji:
Journal Article
MeSH Terms:
Genetic Testing*
Models, Genetic*
Animals ; Dogs ; Phenotype ; Genetic Association Studies ; Computer Simulation ; Genome-Wide Association Study ; Polymorphism, Single Nucleotide/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
[Genomic newborn screening-research approaches, challenges, and opportunities].
Autorzy:
Brennenstuhl H; Institut für Humangenetik, Universität Heidelberg, Heidelberg, Baden-Württemberg, Deutschland.
Schaaf CP; Institut für Humangenetik, Universität Heidelberg, Heidelberg, Baden-Württemberg, Deutschland. .
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Transliterated Title:
Genomisches Neugeborenenscreening – Forschungsansätze, Herausforderungen und Chancen.
Źródło:
Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz [Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz] 2023 Nov; Vol. 66 (11), pp. 1232-1242. Date of Electronic Publication: 2023 Oct 13.
Typ publikacji:
English Abstract; Journal Article; Review
MeSH Terms:
Neonatal Screening*
Genetic Testing*
Infant, Newborn ; Humans ; Germany ; Genomics ; Genetic Predisposition to Disease/genetics
Czasopismo naukowe
Szczegóły
Tytuł:
Genetic Obesity Disorders: Body Mass Index Trajectories and Age of Onset of Obesity Compared with Children with Obesity from the General Population.
Autorzy:
Abawi O; Division of Endocrinology, Department of Pediatrics, Erasmus MC-Sophia, University Medical Center Rotterdam, Rotterdam, The Netherlands; Obesity Center CGG, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
Wahab RJ; The Generation R Study Group, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands; Department of Pediatrics, Erasmus MC-Sophia, University Medical Center Rotterdam, Rotterdam, The Netherlands.
Kleinendorst L; Obesity Center CGG, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands; Department of Human Genetics, Section Clinical Genetics, Amsterdam UMC location University of Amsterdam, Amsterdam, The Netherlands.
Blankers LA; Division of Endocrinology, Department of Pediatrics, Erasmus MC-Sophia, University Medical Center Rotterdam, Rotterdam, The Netherlands; Obesity Center CGG, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
Brandsma AE; Obesity Center CGG, Maasstad Ziekenhuis, Rotterdam, The Netherlands.
van Rossum EFC; Obesity Center CGG, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands; Division of Endocrinology, Department of Internal Medicine, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
van der Voorn B; Division of Endocrinology, Department of Pediatrics, Erasmus MC-Sophia, University Medical Center Rotterdam, Rotterdam, The Netherlands; Obesity Center CGG, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands; Division of Endocrinology, Department of Internal Medicine, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
van Haelst MM; Department of Human Genetics, Section Clinical Genetics, Amsterdam UMC location University of Amsterdam, Amsterdam, The Netherlands.
Gaillard R; The Generation R Study Group, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands; Department of Pediatrics, Erasmus MC-Sophia, University Medical Center Rotterdam, Rotterdam, The Netherlands.
van den Akker ELT; Division of Endocrinology, Department of Pediatrics, Erasmus MC-Sophia, University Medical Center Rotterdam, Rotterdam, The Netherlands; Obesity Center CGG, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands. Electronic address: .
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Źródło:
The Journal of pediatrics [J Pediatr] 2023 Nov; Vol. 262, pp. 113619. Date of Electronic Publication: 2023 Jul 18.
Typ publikacji:
Observational Study; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Obesity*/epidemiology
Obesity*/genetics
Genetic Testing*
Humans ; Child ; Body Mass Index ; Age of Onset ; Heterozygote ; Receptor, Melanocortin, Type 4/genetics
Czasopismo naukowe
Szczegóły
Tytuł:
Non-invasive prenatal testing (NIPT): is routinization problematic?
Autorzy:
Rehmann-Sutter C; Institute for History of Medicine and Science Studies, University of Lübeck, Lübeck, Germany. .
Timmermans DRM; Amsterdam UMC, Vrije Universiteit Amsterdam, Public and Occupational Health, Amsterdam Public Health Research Institute, Amsterdam, Netherlands.
Raz A; Department of Sociology and Anthropology, Ben-Gurion University of the Negev, Be'er Sheva, Israel.
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Źródło:
BMC medical ethics [BMC Med Ethics] 2023 Oct 26; Vol. 24 (1), pp. 87. Date of Electronic Publication: 2023 Oct 26.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Genetic Testing*
Prenatal Diagnosis*
Pregnancy ; Female ; Humans ; Pregnant Women ; Attitude ; Reproduction
Czasopismo naukowe
Szczegóły
Tytuł:
Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.
Autorzy:
Josephs KS; National Heart and Lung Institute, Imperial College London, Du Cane Road, London, W12 0NN, UK.; Royal Brompton and Harefield Hospitals, Guy's and St Thomas' NHS Foundation Trust, London, UK.
Roberts AM; National Heart and Lung Institute, Imperial College London, Du Cane Road, London, W12 0NN, UK.; Great Ormond Street Hospital, NHS Foundation Trust, London, UK.
Theotokis P; National Heart and Lung Institute, Imperial College London, Du Cane Road, London, W12 0NN, UK.
Walsh R; Amsterdam University Medical Centre, University of Amsterdam, Heart Center, Department of Experimental Cardiology, Amsterdam Cardiovascular Sciences, Amsterdam, The Netherlands.
Ostrowski PJ; Great Ormond Street Hospital, NHS Foundation Trust, London, UK.
Edwards M; Clinical Genetics & Genomics Lab, Royal Brompton and Harefield Hospitals, Guy's and St Thomas' NHS Foundation Trust, London, UK.
Fleming A; Clinical Genetics & Genomics Lab, Royal Brompton and Harefield Hospitals, Guy's and St Thomas' NHS Foundation Trust, London, UK.
Thaxton C; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Roberts JD; Population Health Research Institute, McMaster University, and Hamilton Health Sciences, Hamilton, Ontario, Canada.
Care M; Department of Molecular Genetics, University of Toronto, Toronto, Canada.; Division of Cardiology, Toronto General Hospital, Toronto, Canada.
Zareba W; Clinical Cardiovascular Research Center, University of Rochester, Rochester, NY, USA.
Adler A; Division of Cardiology, Peter Munk Cardiac Centre, University Health Network and Department of Medicine, University of Toronto, Toronto, Ontario, Canada.
Sturm AC; 23andMe, Genomic Health, Sunnyvale, CA, USA.
Tadros R; Cardiovascular Genetics Center, Montreal Heart Institute, and Faculty of Medicine, Université de Montréal, Montreal, Canada.
Novelli V; Unit of Immunology and Functional Genomics, Centro Cardiologico Monzino IRCCS, Milano, Italy.
Owens E; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Bronicki L; Department of Pathology and Laboratory Medicine, University of Ottawa, Ottawa, Ontario, Canada.; Department of Genetics, CHEO, Ottawa, Ontario, Canada.
Jarinova O; Department of Pathology and Laboratory Medicine, University of Ottawa, Ottawa, Ontario, Canada.; Department of Genetics, CHEO, Ottawa, Ontario, Canada.
Callewaert B; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.
Peters S; Department of Cardiology and Genomic Medicine, Royal Melbourne Hospital, Melbourne, Australia.; University of Melbourne, Melbourne, Australia.
Lumbers T; Barts Health & University College London Hospitals NHS Trusts, London, UK.; Institute of Health Informatics, University College London, London, UK.
Jordan E; Divisions of Human Genetics and Cardiovascular Medicine, The Ohio State University, Columbus, OH, USA.
Asatryan B; Department of Cardiology, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.; Division of Cardiology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Krishnan N; Centre for Population Genomics, Garvan Institute of Medical Research, and UNSW Sydney, Sydney, Australia.
Hershberger RE; Divisions of Human Genetics and Cardiovascular Medicine, The Ohio State University, Columbus, OH, USA.
Chahal CAA; Center for Inherited Cardiovascular Diseases, WellSpan Health, Lancaster, PA, USA.; Cardiac Electrophysiology and Inherited Cardiovascular Diseases, Cardiovascular Division, Hospital of the University of Pennsylvania, Philadelphia, PA, USA.; Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN, USA.; Barts Heart Centre, St Bartholomew's Hospital, Barts Health NHS Trust, London, UK.
Landstrom AP; Department of Pediatrics and Cell Biology, Duke University School of Medicine, Durham, NC, USA.
James C; Johns Hopkins Center for Inherited Heart Diseases, Department of Medicine, Johns Hopkins University, Baltimore, MD, USA.
McNally EM; Center for Genetic Medicine, Dept of Medicine (Cardiology), Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Judge DP; Medical University of South Carolina, Charleston, SC, USA.
van Tintelen P; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.
Wilde A; Department of Cardiology, Amsterdam UMC location University of Amsterdam, Meibergdreef 9, Amsterdam, the Netherlands.; Amsterdam Cardiovascular Sciences, Heart Failure and Arrhythmias, Amsterdam UMC location University of Amsterdam, Amsterdam, the Netherlands.
Gollob M; Inherited Arrhythmia and Cardiomyopathy Program, Division of Cardiology, University of Toronto, Toronto, ON, Canada.
Ingles J; Centre for Population Genomics, Garvan Institute of Medical Research, and UNSW Sydney, Sydney, Australia.
Ware JS; National Heart and Lung Institute, Imperial College London, Du Cane Road, London, W12 0NN, UK. .; Royal Brompton and Harefield Hospitals, Guy's and St Thomas' NHS Foundation Trust, London, UK. .; MRC London Institute of Medical Sciences, Imperial College London, London, UK. .
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Źródło:
Genome medicine [Genome Med] 2023 Oct 23; Vol. 15 (1), pp. 86. Date of Electronic Publication: 2023 Oct 23.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Genetic Testing*
Genetic Variation*
Humans ; Databases, Genetic ; Genomics ; Inheritance Patterns
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Predictive Clinical and Biological Criteria for Gene Panel Positivity in Suspected Inherited Autoinflammatory Diseases: Insights from a Case-Control Study.
Autorzy:
Heiser L; Laboratoire de Génétique des Maladies Rares et Autoinflammatoires, Service de Génétique Moléculaire et Cytogénomique, National Reference Center for Autoinflammatory Diseases and AA Amyloidosis, Centre Hospitalier Universitaire Montpellier, Université de Montpellier, 34295 Montpellier, France.
Broly M; Laboratoire de Génétique des Maladies Rares et Autoinflammatoires, Service de Génétique Moléculaire et Cytogénomique, National Reference Center for Autoinflammatory Diseases and AA Amyloidosis, Centre Hospitalier Universitaire Montpellier, Université de Montpellier, 34295 Montpellier, France.
Rittore C; Laboratoire de Génétique des Maladies Rares et Autoinflammatoires, Service de Génétique Moléculaire et Cytogénomique, National Reference Center for Autoinflammatory Diseases and AA Amyloidosis, Centre Hospitalier Universitaire Montpellier, Université de Montpellier, 34295 Montpellier, France.
Touitou I; Laboratoire de Génétique des Maladies Rares et Autoinflammatoires, Service de Génétique Moléculaire et Cytogénomique, National Reference Center for Autoinflammatory Diseases and AA Amyloidosis, Centre Hospitalier Universitaire Montpellier, Université de Montpellier, 34295 Montpellier, France.; Stem Cells, Cellular Plasticity, Regenerative Medicine and Immunotherapies, INSERM, 34295 Montpellier, France.
Georgin-Lavialle S; Tenon Hospital, Centre de Référence des Maladies Auto-Inflammatoires et des Amyloses Inflammatoire (CEREMAIA), Internal Medicine Department, Sorbonne University, AP-HP, 4 rue de la Chine, 75020 Paris, France.
Boursier G; Laboratoire de Génétique des Maladies Rares et Autoinflammatoires, Service de Génétique Moléculaire et Cytogénomique, National Reference Center for Autoinflammatory Diseases and AA Amyloidosis, Centre Hospitalier Universitaire Montpellier, Université de Montpellier, 34295 Montpellier, France.; Stem Cells, Cellular Plasticity, Regenerative Medicine and Immunotherapies, INSERM, 34295 Montpellier, France.
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Źródło:
Genes [Genes (Basel)] 2023 Oct 14; Vol. 14 (10). Date of Electronic Publication: 2023 Oct 14.
Typ publikacji:
Journal Article
MeSH Terms:
Genetic Testing*
Hereditary Autoinflammatory Diseases*/diagnosis
Hereditary Autoinflammatory Diseases*/genetics
Infant, Newborn ; Humans ; Case-Control Studies
Czasopismo naukowe
Szczegóły
Tytuł:
Novel frameshift variants expand the map of the genetic defects in IRF2BP2.
Autorzy:
García-Aznar JM; Department of Immunology, Health in Code, A Coruña, Galicia, Spain.
Maneiro Pampín E; Department of Immunology, Health in Code, A Coruña, Galicia, Spain.
García Ramos M; Department of Immunology, Health in Code, A Coruña, Galicia, Spain.
Acuña Pérez MJ; Department of Immunology, Health in Code, A Coruña, Galicia, Spain.
Paz Gandiaga N; Genetics Division, Universitary Hospital Marqués de Valdecilla, Santander, Canatabria, Spain.
Minguell Domingo L; Pediatrics Division, Universitary Hospital Arnau de Vilanova, Lleida, Catalonia, Spain.
Calavia O; Pediatrics Division, Hospital Joan XXIII, Tarragona, Catalonia, Spain.
Soler-Palacin P; Pediatric Infectious Diseases and Immunodeficiencies Unit, Children's Hospital, Barcelona, Catalonia, Spain.; Infection and Immunity in Pediatric Patients Research Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Catalonia, Spain.
Colobran R; Immunology Division, Vall d'Hebron University Hospital (HUVH), Barcelona, Catalonia, Spain.; Translational Immunology Research Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Catalonia, Spain.; Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital (HUVH), Barcelona, Catalonia, Spain.; Department of Cell Biology, Physiology and Immunology, Autonomous University of Barcelona (UAB), Barcelona, Catalonia, Spain.
Novoa Bolívar EM; Immunology Division, Universitary Hospital Virgen de la Arrixaca, Murcia, Spain.
Ocejo Vinyals JG; Immunology Division, Universitary Hospital Marqués de Valdecilla, IDIVAL, Santander, Cantabria, Spain.
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Źródło:
Frontiers in immunology [Front Immunol] 2023 Oct 09; Vol. 14, pp. 1279171. Date of Electronic Publication: 2023 Oct 09 (Print Publication: 2023).
Typ publikacji:
Journal Article
MeSH Terms:
Frameshift Mutation*
Genetic Testing*
Humans ; Genotype ; Phenotype ; Loss of Function Mutation ; DNA-Binding Proteins ; Transcription Factors
Czasopismo naukowe
Szczegóły
Tytuł:
SCM is potential resource for non-invasive preimplantation genetic testing based on human embryos single-cell sequencing.
Autorzy:
Yang L; Center of Bioinformatics, College of Life Sciences, Northwest A&F University, Yangling, Shaanxi, China.
Shi W; The Assisted Reproduction Center, Northwest Women's and Children's Hospital, Xi'an, Shaanxi, China.
Li Y; Center of Bioinformatics, College of Life Sciences, Northwest A&F University, Yangling, Shaanxi, China.
Tong J; College of Information Engineering, Northwest A&F University, Yangling, Shaanxi, China.
Xue X; The Assisted Reproduction Center, Northwest Women's and Children's Hospital, Xi'an, Shaanxi, China.
Zhao Z; The Assisted Reproduction Center, Northwest Women's and Children's Hospital, Xi'an, Shaanxi, China.
Zhang N; Center of Bioinformatics, College of Life Sciences, Northwest A&F University, Yangling, Shaanxi, China.
Wang D; The Assisted Reproduction Center, Northwest Women's and Children's Hospital, Xi'an, Shaanxi, China.
Fatim I; Center of Bioinformatics, College of Life Sciences, Northwest A&F University, Yangling, Shaanxi, China.
Liao M; Center of Bioinformatics, College of Life Sciences, Northwest A&F University, Yangling, Shaanxi, China. Electronic address: .
Shi J; The Assisted Reproduction Center, Northwest Women's and Children's Hospital, Xi'an, Shaanxi, China. Electronic address: .
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Źródło:
Gene [Gene] 2023 Oct 05; Vol. 882, pp. 147647. Date of Electronic Publication: 2023 Jul 18.
Typ publikacji:
Journal Article
MeSH Terms:
Genetic Testing*/methods
Preimplantation Diagnosis*/methods
Pregnancy ; Female ; Humans ; Blastocyst/pathology ; Embryo Implantation ; Embryo, Mammalian ; Aneuploidy
Czasopismo naukowe
Szczegóły
Tytuł:
Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic Testing.
Autorzy:
Chen E; Invitae Corporation, San Francisco, California.
Facio FM; Invitae Corporation, San Francisco, California.
Aradhya KW; Invitae Corporation, San Francisco, California.
Rojahn S; Invitae Corporation, San Francisco, California.
Hatchell KE; Invitae Corporation, San Francisco, California.
Aguilar S; Invitae Corporation, San Francisco, California.
Ouyang K; Invitae Corporation, San Francisco, California.
Saitta S; Division of Clinical Genetics, Departments of Pediatrics and Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, Los Angeles, California.
Hanson-Kwan AK; Department of Genetics, Stanford University, Stanford, California.
Capurro NN; School of Medicine, University of Valparaíso, Valparaíso, Chile.; Facultad de Medicina, Universidad Andrés Bello, Viña del Mar, Chile.
Takamine E; Department of Medical Genetics, Tokyo Medical and Dental University Hospital, Tokyo, Japan.
Jamuar SS; Genetics Service, KK Women's and Children's Hospital, Singapore.; SingHealth Duke-NUS Institute of Precision Medicine, Singapore.
McKnight D; Invitae Corporation, San Francisco, California.
Johnson B; Invitae Corporation, San Francisco, California.
Aradhya S; Invitae Corporation, San Francisco, California.; Department of Pathology, Stanford University, Stanford, California.
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Źródło:
JAMA network open [JAMA Netw Open] 2023 Oct 02; Vol. 6 (10), pp. e2339571. Date of Electronic Publication: 2023 Oct 02.
Typ publikacji:
Journal Article
MeSH Terms:
Genetic Testing*
Ethnicity*
Middle Aged ; Humans ; Female ; Aged ; Infant, Newborn ; Infant ; Child, Preschool ; Child ; Adolescent ; Young Adult ; Adult ; Aged, 80 and over ; Male ; Cohort Studies ; Canada ; American Indian or Alaska Native
Czasopismo naukowe
Szczegóły
Tytuł:
The role of a multidisciplinary team in managing variants of uncertain clinical significance in prenatal genetic diagnosis.
Autorzy:
Diderich KEM; Department of Clinical Genetics, Erasmus MC, Dr Molewaterplein 40, 3015 GD, Rotterdam, the Netherlands. Electronic address: .
Klapwijk JE; Department of Clinical Genetics, Erasmus MC, Dr Molewaterplein 40, 3015 GD, Rotterdam, the Netherlands.
van der Schoot V; Department of Clinical Genetics, Erasmus MC, Dr Molewaterplein 40, 3015 GD, Rotterdam, the Netherlands.
van den Born M; Department of Clinical Genetics, Erasmus MC, Dr Molewaterplein 40, 3015 GD, Rotterdam, the Netherlands.
Wilke M; Department of Clinical Genetics, Erasmus MC, Dr Molewaterplein 40, 3015 GD, Rotterdam, the Netherlands.
Joosten M; Department of Clinical Genetics, Erasmus MC, Dr Molewaterplein 40, 3015 GD, Rotterdam, the Netherlands.
Stuurman KE; Department of Clinical Genetics, Erasmus MC, Dr Molewaterplein 40, 3015 GD, Rotterdam, the Netherlands.
Hoefsloot LH; Department of Clinical Genetics, Erasmus MC, Dr Molewaterplein 40, 3015 GD, Rotterdam, the Netherlands.
Van Opstal D; Department of Clinical Genetics, Erasmus MC, Dr Molewaterplein 40, 3015 GD, Rotterdam, the Netherlands.
Brüggenwirth HT; Department of Clinical Genetics, Erasmus MC, Dr Molewaterplein 40, 3015 GD, Rotterdam, the Netherlands.
Srebniak MI; Department of Clinical Genetics, Erasmus MC, Dr Molewaterplein 40, 3015 GD, Rotterdam, the Netherlands.
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Źródło:
European journal of medical genetics [Eur J Med Genet] 2023 Oct; Vol. 66 (10), pp. 104844. Date of Electronic Publication: 2023 Sep 13.
Typ publikacji:
Journal Article
MeSH Terms:
Clinical Relevance*
Genetic Testing*
Female ; Humans ; Pregnancy ; Patient Care Team ; Prenatal Diagnosis ; Prospective Studies ; Retrospective Studies
Czasopismo naukowe
Szczegóły
Tytuł:
Close-to-lesion transbronchial biopsy: a novel technique to improve suitability of specimens for genetic testing in patients with peripheral pulmonary lesions.
Autorzy:
Nishii Y; Respiratory Center, Matsusaka Municipal Hospital, Tonomachi 1550, Matsusaka, Mie, 515-8544, Japan.
Sakaguchi T; Respiratory Center, Matsusaka Municipal Hospital, Tonomachi 1550, Matsusaka, Mie, 515-8544, Japan.
Esumi S; Respiratory Center, Matsusaka Municipal Hospital, Tonomachi 1550, Matsusaka, Mie, 515-8544, Japan.
Esumi M; Respiratory Center, Matsusaka Municipal Hospital, Tonomachi 1550, Matsusaka, Mie, 515-8544, Japan.
Nakamura Y; Respiratory Center, Matsusaka Municipal Hospital, Tonomachi 1550, Matsusaka, Mie, 515-8544, Japan.
Suzuki Y; Respiratory Center, Matsusaka Municipal Hospital, Tonomachi 1550, Matsusaka, Mie, 515-8544, Japan.
Ito K; Respiratory Center, Matsusaka Municipal Hospital, Tonomachi 1550, Matsusaka, Mie, 515-8544, Japan.
Fujiwara K; Respiratory Center, Matsusaka Municipal Hospital, Tonomachi 1550, Matsusaka, Mie, 515-8544, Japan.
Yasui H; Respiratory Center, Matsusaka Municipal Hospital, Tonomachi 1550, Matsusaka, Mie, 515-8544, Japan.
Ito A; Respiratory Center, Matsusaka Municipal Hospital, Tonomachi 1550, Matsusaka, Mie, 515-8544, Japan.
Tarukawa T; Respiratory Center, Matsusaka Municipal Hospital, Tonomachi 1550, Matsusaka, Mie, 515-8544, Japan.
Tsuruga T; Department of Pulmonary and Critical Care Medicine, Mie University Faculty and Graduate School of Medicine, Edobashi 2-174, Tsu, Mie, 514-8507, Japan.
D'Alessandro-Gabazza CN; Department of Immunology, Mie University Faculty and Graduate School of Medicine, Edobashi 2-174, Tsu, Mie, 514-8507, Japan.
Yasuma T; Department of Immunology, Mie University Faculty and Graduate School of Medicine, Edobashi 2-174, Tsu, Mie, 514-8507, Japan.
Fujimoto H; Department of Pulmonary and Critical Care Medicine, Mie University Faculty and Graduate School of Medicine, Edobashi 2-174, Tsu, Mie, 514-8507, Japan.
Asano F; Gifu Prefectural General Medical Center, Noisshiki 4-6-1, Gifu, Gifu, 500-8717, Japan.
Gabazza EC; Department of Immunology, Mie University Faculty and Graduate School of Medicine, Edobashi 2-174, Tsu, Mie, 514-8507, Japan. .
Kobayashi T; Department of Pulmonary and Critical Care Medicine, Mie University Faculty and Graduate School of Medicine, Edobashi 2-174, Tsu, Mie, 514-8507, Japan.
Taguchi O; Respiratory Center, Matsusaka Municipal Hospital, Tonomachi 1550, Matsusaka, Mie, 515-8544, Japan.
Hataji O; Respiratory Center, Matsusaka Municipal Hospital, Tonomachi 1550, Matsusaka, Mie, 515-8544, Japan.
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Źródło:
Scientific reports [Sci Rep] 2023 Sep 07; Vol. 13 (1), pp. 14724. Date of Electronic Publication: 2023 Sep 07.
Typ publikacji:
Journal Article
MeSH Terms:
Genetic Testing*
Bronchoscopy*
Humans ; Male ; Biopsy ; Endosonography ; Foreskin
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Prenatal Testing, Disability, and the Ethical Society.
Autorzy:
Robinson H; Exeter College, University of Oxford, England.
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Źródło:
The New bioethics : a multidisciplinary journal of biotechnology and the body [New Bioeth] 2023 Sep; Vol. 29 (3), pp. 195-201.
Typ publikacji:
Editorial
MeSH Terms:
Genetic Testing*/ethics
Prenatal Diagnosis*/ethics
Female ; Humans ; Pregnancy
Opinia redakcyjna
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Incorporating Genetic Testing into a Breeding Program.
Autorzy:
Broeckx BJG; Department of Veterinary and Biosciences, Laboratory of Animal Genetics, Faculty of Veterinary Medicine, Ghent University, Heidestraat 19, Merelbeke 9820, Belgium. Electronic address: .
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Źródło:
The Veterinary clinics of North America. Small animal practice [Vet Clin North Am Small Anim Pract] 2023 Sep; Vol. 53 (5), pp. 951-963. Date of Electronic Publication: 2023 May 21.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Genetic Testing*/veterinary
Reproduction*
Animals
Czasopismo naukowe
Szczegóły
Tytuł:
Evolution of genetic testing and gene therapy in hypertrophic cardiomyopathy.
Autorzy:
Chiswell K; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia.
Zaininger L; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia; Agnes Ginges Centre for Molecular Cardiology at Centenary Institute, The University of Sydney, Sydney, Australia.
Semsarian C; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia; Agnes Ginges Centre for Molecular Cardiology at Centenary Institute, The University of Sydney, Sydney, Australia; Faculty of Medicine and Health, The University of Sydney, Sydney, Australia. Electronic address: .
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Źródło:
Progress in cardiovascular diseases [Prog Cardiovasc Dis] 2023 Sep-Oct; Vol. 80, pp. 38-45. Date of Electronic Publication: 2023 May 01.
Typ publikacji:
Journal Article; Review; Research Support, Non-U.S. Gov't
MeSH Terms:
Genetic Testing*
Cardiomyopathy, Hypertrophic*/diagnosis
Cardiomyopathy, Hypertrophic*/genetics
Cardiomyopathy, Hypertrophic*/therapy
Humans ; Mutation ; Phenotype ; Genetic Therapy
Czasopismo naukowe
Szczegóły
Tytuł:
Ethical, legal, and social implications (ELSI) and challenges in the design of a randomized controlled trial to test the online return of cancer genetic research results to U.S. Black women.
Autorzy:
Wang C; Boston University School of Public Health, 801 Massachusetts Avenue, Boston, MA 02118, USA. Electronic address: .
Bertrand KA; Slone Epidemiology Center at Boston University, 72 East Concord St, L-7, Boston, MA 02118, USA. Electronic address: .
Trevino-Talbot M; Boston University School of Public Health, 801 Massachusetts Avenue, Boston, MA 02118, USA. Electronic address: .
Flynn M; MGH Institute of Health Professions, 36 1st Ave, Boston, MA 02129, USA. Electronic address: .
Ruderman M; Boston University Chobanian & Avedisian School of Medicine, 72 East Concord St, Boston, MA 02118, USA. Electronic address: .
Cabral HJ; Boston University School of Public Health, 801 Massachusetts Avenue, Boston, MA 02118, USA. Electronic address: .
Bowen DJ; University of Washington, 1959 NE Pacific Street, Box 357120, Seattle, WA 98195, USA. Electronic address: .
Hughes-Halbert C; University of Southern California, 1845 North Soto Street, MC 9C 9239, Los Angeles, CA 90089, USA. Electronic address: .
Palmer JR; Slone Epidemiology Center at Boston University, 72 East Concord St, L-7, Boston, MA 02118, USA; Boston University Chobanian & Avedisian School of Medicine, 72 East Concord St, Boston, MA 02118, USA. Electronic address: .
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Źródło:
Contemporary clinical trials [Contemp Clin Trials] 2023 Sep; Vol. 132, pp. 107309. Date of Electronic Publication: 2023 Jul 27.
Typ publikacji:
Randomized Controlled Trial; Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
MeSH Terms:
Genetic Testing*
Neoplasms*/genetics
Female ; Humans ; Disclosure ; Communication ; Genetic Research
Czasopismo naukowe
Szczegóły
Tytuł:
Evaluating the impact of accessible low-cost pediatric genetic testing on underserved communities in the United States.
Autorzy:
Salcedo-Giraldo J; St. Christopher's Hospital for Children, Philadelphia, PA, USA. .; Drexel University College of Medicine, Philadelphia, PA, USA. .
Whitmire B; Drexel University College of Medicine, Philadelphia, PA, USA.; Drexel University Dornsife School of Public Health, Philadelphia, PA, USA.
Lozano G; St. Christopher's Hospital for Children, Philadelphia, PA, USA.; Drexel University College of Medicine, Philadelphia, PA, USA.
Zaritsky J; Phoenix Children's Hospital, Phoenix, AZ, USA.
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Źródło:
Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2023 Dec; Vol. 38 (12), pp. 4061-4068. Date of Electronic Publication: 2023 Jul 11.
Typ publikacji:
Journal Article
MeSH Terms:
Genetic Testing*/methods
High-Throughput Nucleotide Sequencing*/methods
Humans ; Child ; United States ; Retrospective Studies ; Hospitals
Czasopismo naukowe
Szczegóły
Tytuł:
Opt-in for secondary findings as part of diagnostic whole-exome sequencing: Real-life experience from an international diagnostic laboratory.
Autorzy:
Brunfeldt M; Finnish Institute for Health and Welfare, Helsinki, Finland.
Kaare M; Blueprint Genetics, a Quest Diagnostics Company, Espoo, Finland.
Saarinen I; Blueprint Genetics, a Quest Diagnostics Company, Espoo, Finland.
Koskenvuo J; Blueprint Genetics, a Quest Diagnostics Company, Espoo, Finland.
Kääriäinen H; Finnish Institute for Health and Welfare, Helsinki, Finland.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2023 Aug; Vol. 11 (8), pp. e2180. Date of Electronic Publication: 2023 Apr 06.
Typ publikacji:
Journal Article
MeSH Terms:
Genetic Testing*
Genetic Counseling*
Child ; Adult ; Humans ; United States ; Exome Sequencing ; Laboratories ; Exome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Wyświetlanie 1-20 z 61836

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