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Wyświetlanie 1-11 z 11
Tytuł :
TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.
Autorzy :
Goodman LD; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
Cope H; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA.
Nil Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
Ravenscroft TA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
Charng WL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
Lu S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
Tien AC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA, PO Box 9101, Nijmegen, the Netherlands.
Koolen DA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA, PO Box 9101, Nijmegen, the Netherlands.
Haaxma CA; Department of Pediatric Neurology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Geert Grooteplein Zuid 10, 6525 GA, PO Box 9101, the Netherlands.
Veenstra-Knol HE; Department of Genetics, University of Groningen, University Medical Center Groningen, 9713 GZ Groningen, the Netherlands.
Wassink-Ruiter JSK; Department of Genetics, University of Groningen, University Medical Center Groningen, 9713 GZ Groningen, the Netherlands.
Wevers MR; Department of Genetics, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands.
Jones M; Houston Area Pediatric Neurology, 24514 Kingsland Blvd, Katy, TX 77494, USA.
Walsh LE; Department of Pediatric Neurology, Riley Hospital for Children, Indianapolis, IN 46202, USA.
Klee VH; Department of Pediatric Neurology, Riley Hospital for Children, Indianapolis, IN 46202, USA.
Theunis M; Center for Human Genetics, University Hospital Leuven, Herestraat 49, 3000 Leuven, Belgium.
Legius E; Department of Human Genetics, University of Leuven, Herestraat 49, 3000 Leuven, Belgium.
Steel D; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK; Department of Neurology, Great Ormond Street Hospital, London WC1N 3JH, UK.
Barwick KES; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK.
Kurian MA; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK; Department of Neurology, Great Ormond Street Hospital, London WC1N 3JH, UK.
Mohammad SS; T.Y. Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Westmead, NSW 2145, Australia; Kids Neuroscience Centre, The Children's Hospital at Westmead, Faculty of Medicine and Health, Sydney Medical School, University of Sydney, Sydney, Westmead, NSW 2145, Australia.
Dale RC; T.Y. Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Westmead, NSW 2145, Australia; Kids Neuroscience Centre, The Children's Hospital at Westmead, Faculty of Medicine and Health, Sydney Medical School, University of Sydney, Sydney, Westmead, NSW 2145, Australia.
Terhal PA; Department of Genetics, University Medical Center Utrecht, Lundlaan 6, 3584 EA Utrecht, the Netherlands.
van Binsbergen E; Department of Genetics, University Medical Center Utrecht, Lundlaan 6, 3584 EA Utrecht, the Netherlands.
Kirmse B; Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS 39216, USA.
Robinette B; Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS 39216, USA.
Cogné B; Centre hospitalier universitaire (CHU) de Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes, France; INSERM, CNRS, UNIV Nantes, Centre hospitalier universitaire (CHU) de Nantes, l'institut du thorax, 44007 Nantes, France.
Isidor B; Centre hospitalier universitaire (CHU) de Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes, France; INSERM, CNRS, UNIV Nantes, Centre hospitalier universitaire (CHU) de Nantes, l'institut du thorax, 44007 Nantes, France.
Grebe TA; Phoenix Children's Hospital, Phoenix, AZ 85016, USA; Department of Child Health, University of Arizona College of Medicine Phoenix, Phoenix, AZ 85004, USA.
Kulch P; Phoenix Children's Hospital, Phoenix, AZ 85016, USA.
Hainline BE; Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, USA.
Sapp K; Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, USA.
Morava E; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA.
Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA.
Macke EL; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA.
Trapane P; University of Florida, College of Medicine, Jacksonville, Jacksonville, FL 32209, USA.
Spencer C; University of Florida, College of Medicine, Jacksonville, Jacksonville, FL 32209, USA.
Si Y; GeneDx, Gaithersburg, MD 20877, USA.
Begtrup A; GeneDx, Gaithersburg, MD 20877, USA.
Moulton MJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
Dutta D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
Kanca O; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
Yamamoto S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA; Development, Disease Models & Therapeutics Graduate Program, Baylor College of Medicine, Houston, TX 77030, USA.
Bellen HJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA; Development, Disease Models & Therapeutics Graduate Program, Baylor College of Medicine, Houston, TX 77030, USA; Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address: .
Tan QK; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA. Electronic address: .
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Corporate Authors :
Undiagnosed Diseases Network; The Undiagnosed Diseases Network (UDN) consortia, see Supplemental Note S2 for co-investigators, Harvard University, Cambridge, MA 02138, USA.
Źródło :
American journal of human genetics [Am J Hum Genet] 2021 Sep 02; Vol. 108 (9), pp. 1669-1691. Date of Electronic Publication: 2021 Jul 26.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
Czasopismo naukowe
Tytuł :
Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype.
Autorzy :
Zanoni P; Institute of Medical Genetics, University of Zürich, Schlieren-Zurich, Switzerland. .
Steindl K; Institute of Medical Genetics, University of Zürich, Schlieren-Zurich, Switzerland.
Sengupta D; Department of Biology, Stanford University, Stanford, CA, USA.
Joset P; Institute of Medical Genetics, University of Zürich, Schlieren-Zurich, Switzerland.
Bahr A; Institute of Medical Genetics, University of Zürich, Schlieren-Zurich, Switzerland.
Sticht H; Institute of Biochemistry, Friedrich-Alexander University Erlangen-Nürnberg, Erlangen, Germany.
Lang-Muritano M; Department of Pediatric Endocrinology and Diabetology, University Children's Hospital, Zurich, Switzerland.; Children's Research Centre, University Children's Hospital, Zurich, Switzerland.
van Ravenswaaij-Arts CMA; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands.
Shinawi M; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO, USA.
Andrews M; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO, USA.
Attie-Bitach T; Service d'Histologie-Embryologie-Cytogénétique, Unité d'Embryofoetopathologie, Hôpital Necker-Enfants Malades, APHP, Paris, France.; INSERM UMR 1163, Université de Paris, Imagine Institute, Paris, France.
Maystadt I; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium.; Faculté de médecine, Université de Namur, Namur, Belgium.
Belnap N; Center for Rare Childhood Disorders (C4RCD), Translational Genomics Research Institute, Phoenix, AZ, USA.; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, USA.
Benoit V; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium.; Département de Biologie Moléculaire, Institut de Pathologie et de Génétique, Gosselies, Belgium.
Delplancq G; Centre de Génétique Humaine, Université de Franche-Comté, CHU, Besançon, France.; Service de Neuropédiatrie, CHU, Besançon, France.
de Vries BBA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Grotto S; Maternité Port-Royal, AP-HP, Hôpital Cochin, Paris, France.
Lacombe D; Service de Génétique Médicale, Hôpital Pellegrin CHU, Bordeaux, France.
Larson A; Department of Pediatrics, Section of Genetics, University of Colorado Anschutz Medical Campus, Denver, CO, USA.
Mourmans J; Deventer Ziekenhuis, Deventer, the Netherlands.
Õunap K; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
Petrilli G; Service d'Histologie-Embryologie-Cytogénétique, Unité d'Embryofoetopathologie, Hôpital Necker-Enfants Malades, APHP, Paris, France.
Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Ramsey K; Center for Rare Childhood Disorders (C4RCD), Translational Genomics Research Institute, Phoenix, AZ, USA.; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, USA.
Blok LS; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Tsatsaris V; Maternité Port-Royal, AP-HP, Hôpital Cochin, Paris, France.
Vitobello A; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD, FHU-TRANSLAD, Unité Fonctionnelle D'Innovation en Diagnostique Génomique Des Maladies Rares, Pôle de Biologie, CHU Dijon Bourgogne, Dijon, France.
Faivre L; Centre de Référence Maladies Rares « Anomalies du Développement Et Syndrome Malformatifs » de L'Est, Hôpital D'Enfants, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.
Wheeler PG; Division of Genetics, Arnold Palmer Hospital, Orlando Health, Orlando, FL, USA.
Wevers MR; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Wojcik M; Department of Pediatrics, Boston Children's Hospital, Divisions of Newborn Medicine and Genetics and Genomics, Boston, MA, USA.; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Zweier M; Institute of Medical Genetics, University of Zürich, Schlieren-Zurich, Switzerland.
Gozani O; Department of Biology, Stanford University, Stanford, CA, USA.
Rauch A; Institute of Medical Genetics, University of Zürich, Schlieren-Zurich, Switzerland. .; Zurich Center for Integrative Human Physiology, University of Zurich, Zurich, Switzerland. .; Neuroscience Center Zurich, University of Zurich and ETH Zurich, Zurich, Switzerland. .
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Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Aug; Vol. 23 (8), pp. 1474-1483. Date of Electronic Publication: 2021 May 03.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Histone-Lysine N-Methyltransferase*/genetics
Wolf-Hirschhorn Syndrome*
Female ; Humans ; Methylation ; Mutation, Missense ; Phenotype ; Pregnancy
Czasopismo naukowe
Tytuł :
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Autorzy :
Radio FC; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Pang K; Division of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA.
Ciolfi A; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Levy MA; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada.
Hernández-García A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Pedace L; Oncohaematology Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Pantaleoni F; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Liu Z; Division of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA.
de Boer E; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6525 GA Nijmegen, the Netherlands.
Jackson A; Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, M13 9 WL Manchester, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, M13 9WL Manchester, UK.
Bruselles A; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy.
McConkey H; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada.
Stellacci E; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy.
Lo Cicero S; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy.
Motta M; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Carrozzo R; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Dentici ML; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
McWalter K; GeneDx, Gaithersburg, MD 20877, USA.
Desai M; GeneDx, Gaithersburg, MD 20877, USA.
Monaghan KG; GeneDx, Gaithersburg, MD 20877, USA.
Telegrafi A; GeneDx, Gaithersburg, MD 20877, USA.
Philippe C; Inserm UMR 1231 GAD (Génétique des Anomalies du Développement), Université de Bourgogne, 21070 Dijon, France; UF Innovation en Diagnostic Génomique des Maladies Rares, CHU, Dijon Bourgogne, 21079 Dijon, France.
Vitobello A; Inserm UMR 1231 GAD (Génétique des Anomalies du Développement), Université de Bourgogne, 21070 Dijon, France; UF Innovation en Diagnostic Génomique des Maladies Rares, CHU, Dijon Bourgogne, 21079 Dijon, France.
Au M; Division of Medical Genetics, Department of Pediatrics, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA 90048, USA.
Grand K; Division of Medical Genetics, Department of Pediatrics, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA 90048, USA.
Sanchez-Lara PA; Division of Medical Genetics, Department of Pediatrics, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA 90048, USA.
Baez J; Division of Medical Genetics, Department of Pediatrics, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA 90048, USA.
Lindstrom K; Phoenix Children's Hospital, Phoenix, AZ 85016, USA.
Kulch P; Phoenix Children's Hospital, Phoenix, AZ 85016, USA.
Sebastian J; Division of Medical Genetics, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA.
Madan-Khetarpal S; Division of Medical Genetics, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA.
Roadhouse C; McMaster Children's Hospital, Hamilton, ON L8N 3Z5, Canada.
MacKenzie JJ; McMaster Children's Hospital, Hamilton, ON L8N 3Z5, Canada.
Monteleone B; Clinical genetics, NYU Langone Long Island School of Medicine, Mineola, NY 11501, USA.
Saunders CJ; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA.
Jean Cuevas JK; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA.
Cross L; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA.
Zhou D; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA.
Hartley T; Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada.
Sawyer SL; Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada.
Monteiro FP; Mendelics Genomic Analysis, Campo Belo - São Paulo 04013-000, Brazil.
Secches TV; Mendelics Genomic Analysis, Campo Belo - São Paulo 04013-000, Brazil.
Kok F; Mendelics Genomic Analysis, Campo Belo - São Paulo 04013-000, Brazil.
Schultz-Rogers LE; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA.
Macke EL; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA.
Morava E; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA.
Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA.
Kemppainen J; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA.
Iascone M; Ospedale Papa Giovanni XXIII, 24127 Bergamo, Italy.
Selicorni A; Azienda Socio Sanitaria Territoriale Lariana, 22100 Como, Italy.
Tenconi R; Dipartimento di Pediatria, Università di Padova, 35137 Padua, Italy.
Amor DJ; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, VIC 3052, Australia.
Pais L; Medical and Populations Genetics Program, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Gallacher L; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, VIC 3052, Australia.
Turnpenny PD; Royal Devon & Exeter NHS Foundation Trust, Exeter EX2 5DW, UK.
Stals K; Royal Devon & Exeter NHS Foundation Trust, Exeter EX2 5DW, UK.
Ellard S; Royal Devon & Exeter NHS Foundation Trust, Exeter EX2 5DW, UK.
Cabet S; Department of Genetics, Hospices Civils de Lyon, Groupement Hospitalier Est, Claude Bernard Lyon 1 University, 69002 Lyon, France.
Lesca G; Department of Genetics, Hospices Civils de Lyon, Groupement Hospitalier Est, Claude Bernard Lyon 1 University, 69002 Lyon, France.
Pascal J; Institute of Medical Genetics, University of Zurich, 8952 Schlieren, Zurich, Switzerland.
Steindl K; Institute of Medical Genetics, University of Zurich, 8952 Schlieren, Zurich, Switzerland.
Ravid S; Pediatric Neurology Unit, Ruth Children's Hospital, Rambam Health Care Campus, Haifa 3109601, Israel.
Weiss K; Genetics Institute, Rambam Health Care Campus, Rappaport Faculty of Medicine, Israel Institute of Technology, Haifa 3109601, Israel.
Castle AMR; Department of Genetics, CHEO, University of Ottawa, Ottawa, ON K1N 6N5, Canada.
Carter MT; Department of Genetics, CHEO, University of Ottawa, Ottawa, ON K1N 6N5, Canada.
Kalsner L; Connecticut Children's Medical Center, University of Connecticut School of Medicine, Farmington, CT 06032, USA.
de Vries BBA; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6525 GA Nijmegen, the Netherlands.
van Bon BW; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands.
Wevers MR; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands.
Pfundt R; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands.
Stegmann APA; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands; Department of Clinical Genetics, Maastricht University Medical Center+, 6229 HX Maastricht, the Netherlands.
Kerr B; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, M13 9WL Manchester, UK.
Kingston HM; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, M13 9WL Manchester, UK.
Chandler KE; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, M13 9WL Manchester, UK.
Sheehan W; Department of Medical Genetics, Shodair Children's Hospital, Helena, MT 59601, USA.
Elias AF; Department of Medical Genetics, Shodair Children's Hospital, Helena, MT 59601, USA.
Shinde DN; Ambry Genetics, Aliso Viejo, CA 92656, USA.
Towne MC; Ambry Genetics, Aliso Viejo, CA 92656, USA.
Robin NH; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Goodloe D; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Vanderver A; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Sherbini O; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Bluske K; Illumina Clinical Services Laboratory, San Diego, CA 92122, USA.
Hagelstrom RT; Illumina Clinical Services Laboratory, San Diego, CA 92122, USA.
Zanus C; Institute for Maternal and Child Health, IRCCS 'Burlo Garofolo,' 34137 Trieste, Italy.
Faletra F; Institute for Maternal and Child Health, IRCCS 'Burlo Garofolo,' 34137 Trieste, Italy.
Musante L; Institute for Maternal and Child Health, IRCCS 'Burlo Garofolo,' 34137 Trieste, Italy.
Kurtz-Nelson EC; Department of Psychiatry & Behavioral Sciences, University of Washington, Seattle, WA 98195, USA.
Earl RK; Department of Psychiatry & Behavioral Sciences, University of Washington, Seattle, WA 98195, USA.
Anderlid BM; Department of Molecular Medicine and Surgery, Karolinska Institutet and Department of Clinical Genetics, Karolinska University Hospital, 17176 Stockholm, Sweden.
Morin G; CA de Génétique Clinique & Oncogénétique, CHU Amiens-Picardie, 80054 Amiens, France.
van Slegtenhorst M; Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, the Netherlands.
Diderich KEM; Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, the Netherlands.
Brooks AS; Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, the Netherlands.
Gribnau J; Department of Developmental Biology, Oncode Institute, Erasmus MC, University Medical Center, 3015 GD Rotterdam, the Netherlands.
Boers RG; Department of Developmental Biology, Oncode Institute, Erasmus MC, University Medical Center, 3015 GD Rotterdam, the Netherlands.
Finestra TR; Department of Developmental Biology, Oncode Institute, Erasmus MC, University Medical Center, 3015 GD Rotterdam, the Netherlands.
Carter LB; Department of Pediatrics, Division of Medical Genetics, Levine Children's Hospital Atrium Health, Charlotte, NC 28203, USA.
Rauch A; Institute of Medical Genetics, University of Zurich, 8952 Schlieren, Zurich, Switzerland.
Gasparini P; Institute for Maternal and Child Health, IRCCS 'Burlo Garofolo,' 34137 Trieste, Italy; Department of Medicine, Surgery & Health Science, University of Trieste, 34143 Trieste, Italy.
Boycott KM; Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada.
Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, the Netherlands.
Graham JM Jr; Division of Medical Genetics, Department of Pediatrics, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA 90048, USA.
Faivre L; Centre de Référence Maladies Rares « Anomalies du Développement et Syndromes Malformatifs », Centre de Génétique, FHU-TRANSLAD et Institut GIMI, 77908 Dijon, France; UMR 1231 GAD, Inserm - Université Bourgogne-Franche Comté, 77908 Dijon, France.
Banka S; Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, M13 9 WL Manchester, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, M13 9WL Manchester, UK.
Wang T; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA; Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA.
Priolo M; UOSD Genetica Medica del Grande Ospedale Metropolitano 'Bianchi Melacrino Morelli' di Reggio Calabria, 89124 Reggio Calabria, Italy.
Dallapiccola B; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Vissers LELM; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6525 GA Nijmegen, the Netherlands.
Sadikovic B; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada.
Scott DA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX 77030, USA.
Holder JL Jr; Division of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA.
Tartaglia M; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy. Electronic address: .
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Źródło :
American journal of human genetics [Am J Hum Genet] 2021 Mar 04; Vol. 108 (3), pp. 502-516. Date of Electronic Publication: 2021 Feb 16.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosome Disorders/*genetics
Chromosomes, Human, Pair 1/*genetics
Chromosomes, Human, X/*genetics
DNA-Binding Proteins/*genetics
RNA-Binding Proteins/*genetics
Adolescent ; Autism Spectrum Disorder/genetics ; Autism Spectrum Disorder/pathology ; Child ; Child, Preschool ; Chromosome Deletion ; Chromosome Disorders/physiopathology ; DNA Methylation/genetics ; Epigenesis, Genetic/genetics ; Female ; Haploinsufficiency/genetics ; Humans ; Intellectual Disability/genetics ; Intellectual Disability/physiopathology ; Male ; Neurodevelopmental Disorders/genetics ; Neurodevelopmental Disorders/physiopathology ; Phenotype ; Young Adult
SCR Disease Name :
Chromosome 1p36 Deletion Syndrome
Czasopismo naukowe
Tytuł :
'We don't know for sure': discussion of uncertainty concerning multigene panel testing during initial cancer genetic consultations.
Autorzy :
Medendorp NM; Department of Medical Psychology - Amsterdam UMC, University of Amsterdam, P.O. Box 22700, 1100 DE, Amsterdam, The Netherlands. .; Amsterdam Public Health Research Institute, Amsterdam, The Netherlands. .; Cancer Center Amsterdam, Amsterdam, The Netherlands. .
Hillen MA; Department of Medical Psychology - Amsterdam UMC, University of Amsterdam, P.O. Box 22700, 1100 DE, Amsterdam, The Netherlands.; Amsterdam Public Health Research Institute, Amsterdam, The Netherlands.; Cancer Center Amsterdam, Amsterdam, The Netherlands.
van Maarschalkerweerd PEA; Department of Medical Psychology - Amsterdam UMC, University of Amsterdam, P.O. Box 22700, 1100 DE, Amsterdam, The Netherlands.
Aalfs CM; Department of Clinical Genetics - Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Division of Biomedical Genetics, Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
Ausems MGEM; Division of Biomedical Genetics, Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
Verhoef S; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
van der Kolk LE; Family Cancer Clinic, Netherlands Cancer Institute, Amsterdam, The Netherlands.
Berger LPV; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands.
Wevers MR; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Wagner A; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.
Caanen BAH; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
Stiggelbout AM; Medical Decision Making, Department of Biomedical Data Sciences, Leiden University Medical Center, Leiden, The Netherlands.
Smets EMA; Department of Medical Psychology - Amsterdam UMC, University of Amsterdam, P.O. Box 22700, 1100 DE, Amsterdam, The Netherlands.; Amsterdam Public Health Research Institute, Amsterdam, The Netherlands.; Cancer Center Amsterdam, Amsterdam, The Netherlands.; Department of Clinical Genetics - Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
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Źródło :
Familial cancer [Fam Cancer] 2020 Jan; Vol. 19 (1), pp. 65-76. Date of Electronic Publication: 2019 Nov 26.
Typ publikacji :
Journal Article; Observational Study; Research Support, Non-U.S. Gov't
MeSH Terms :
Decision Making, Shared*
Genetic Counseling*
Genetic Testing*
Uncertainty*
Counselors/*psychology
Neoplasms/*genetics
Adult ; Communication ; Cross-Sectional Studies ; Female ; Genetic Predisposition to Disease ; Genetics ; Humans ; Male ; Middle Aged ; Multifactorial Inheritance ; Netherlands ; Patient Simulation
Czasopismo naukowe
Tytuł :
Families with BAP1-Tumor Predisposition Syndrome in The Netherlands: Path to Identification and a Proposal for Genetic Screening Guidelines.
Autorzy :
Chau C; Department of Ophthalmology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.
van Doorn R; Department of Dermatology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.
van Poppelen NM; Department of Clinical Genetics, Erasmus Medical Center, 3015 GD Rotterdam, The Netherlands.; Department of Ophthalmology, Erasmus Medical Center, 3015 GD Rotterdam, The Netherlands.
van der Stoep N; Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.
Mensenkamp AR; Department of Clinical Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
Sijmons RH; Department of Genetics, University Medical Center Groningen, 9713 GZ Groningen, The Netherlands.
van Paassen BW; Department of Clinical Genetics, Erasmus Medical Center, 3015 GD Rotterdam, The Netherlands.
van den Ouweland AMW; Department of Clinical Genetics, Erasmus Medical Center, 3015 GD Rotterdam, The Netherlands.
Naus NC; Department of Ophthalmology, Erasmus Medical Center, 3015 GD Rotterdam, The Netherlands.
van der Hout AH; Department of Genetics, University Medical Center Groningen, 9713 GZ Groningen, The Netherlands.
Potjer TP; Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.
Bleeker FE; Department of Clinical Genetics, Netherlands Cancer Institute, 1066 CX Amsterdam, The Netherlands.
Wevers MR; Department of Clinical Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
van Hest LP; Department of Clinical Genetics, Amsterdam University Medical Centers, 1081 HV Amsterdam, The Netherlands.
Jongmans MCJ; Department of Clinical Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.; Department of Clinical Genetics, University Medical Center Utrecht, 3584 CX Utrecht, The Netherlands.
Marinkovic M; Department of Ophthalmology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.
Bleeker JC; Department of Ophthalmology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.
Jager MJ; Department of Ophthalmology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.
Luyten GPM; Department of Ophthalmology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.
Nielsen M; Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands. .
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Źródło :
Cancers [Cancers (Basel)] 2019 Aug 04; Vol. 11 (8). Date of Electronic Publication: 2019 Aug 04.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Rapid genetic counseling and testing in newly diagnosed breast cancer: Patients' and health professionals' attitudes, experiences, and evaluation of effects on treatment decision making.
Autorzy :
Wevers MR; Division of Psychosocial Research and Epidemiology, The Netherlands Cancer Institute, Amsterdam, The Netherlands.; Division of Biomedical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Aaronson NK; Division of Psychosocial Research and Epidemiology, The Netherlands Cancer Institute, Amsterdam, The Netherlands.
Bleiker EMA; Division of Psychosocial Research and Epidemiology, The Netherlands Cancer Institute, Amsterdam, The Netherlands.
Hahn DEE; Department of Psychosocial Counseling, The Netherlands Cancer Institute, Amsterdam, The Netherlands.
Brouwer T; Division of Biomedical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
van Dalen T; Division of Surgery, Diakonessen Hospital, Utrecht, The Netherlands.
Theunissen EB; Division of Surgery, St. Antonius Hospital, Nieuwegein, The Netherlands.
van Ooijen B; Division of Surgery, Meander Medical Center, Amersfoort, The Netherlands.
de Roos MA; Division of Surgery, Rivierenland Hospital, Tiel, The Netherlands.
Borgstein PJ; Division of Surgery, OLVG Location East, Amsterdam, The Netherlands.
Vrouenraets BC; Division of Surgery, OLVG Location West, Amsterdam, The Netherlands.
Vriens E; Division of Surgery, Tergooi Hospitals, Blaricum, The Netherlands.
Bouma WH; Division of Surgery, Gelre Hospitals, Apeldoorn, The Netherlands.
Rijna H; Division of Surgery, Kennemer Gasthuis, Haarlem, The Netherlands.
Vente JP; Division of Surgery, Zuwe Hofpoort Hospital, Woerden, The Netherlands.
Kuenen MA; Division of Psychosocial Research and Epidemiology, The Netherlands Cancer Institute, Amsterdam, The Netherlands.
van der Sanden-Melis J; Division of Biomedical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Witkamp AJ; Division of Surgery, University Medical Center Utrecht, Utrecht, The Netherlands.
Rutgers EJT; Division of Surgery, The Netherlands Cancer Institute, Amsterdam, The Netherlands.
Verhoef S; Family Cancer Clinic, The Netherlands Cancer Institute, Amsterdam, The Netherlands.
Ausems MGEM; Division of Biomedical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
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Źródło :
Journal of surgical oncology [J Surg Oncol] 2017 Dec; Vol. 116 (8), pp. 1029-1039. Date of Electronic Publication: 2017 Jul 13.
Typ publikacji :
Journal Article
MeSH Terms :
Attitude of Health Personnel*
Genetic Counseling*
Genetic Testing*
Breast Neoplasms/*genetics
Adult ; Aged ; Breast Neoplasms/therapy ; Decision Making ; Female ; Humans ; Male ; Middle Aged ; Referral and Consultation
Czasopismo naukowe
Tytuł :
Does rapid genetic counseling and testing in newly diagnosed breast cancer patients cause additional psychosocial distress? results from a randomized clinical trial.
Autorzy :
Wevers MR; Division of Psychosocial Research and Epidemiology, The Netherlands Cancer Institute, Amsterdam, The Netherlands.; Division of Biomedical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Ausems MG; Division of Biomedical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Verhoef S; Family Cancer Clinic, The Netherlands Cancer Institute, Amsterdam, The Netherlands.
Bleiker EM; Division of Psychosocial Research and Epidemiology, The Netherlands Cancer Institute, Amsterdam, The Netherlands.
Hahn DE; Department of Psychosocial Counseling, The Netherlands Cancer Institute, Amsterdam, The Netherlands.
Brouwer T; Division of Biomedical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Hogervorst FB; Family Cancer Clinic, The Netherlands Cancer Institute, Amsterdam, The Netherlands.
van der Luijt RB; Division of Biomedical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
van Dalen T; Division of Surgery, Diakonessen Hospital, Utrecht, The Netherlands.
Theunissen EB; Division of Surgery, St. Antonius Hospital, Nieuwegein, The Netherlands.
van Ooijen B; Division of Surgery, Meander Medical Center, Amersfoort, The Netherlands.
de Roos MA; Division of Surgery, Rivierenland Hospital, Tiel, The Netherlands.
Borgstein PJ; Division of Surgery, Onze Lieve Vrouwe Gasthuis, Amsterdam, The Netherlands.
Vrouenraets BC; Division of Surgery, St. Lucas Andreas Hospital, Amsterdam, The Netherlands.
Vriens E; Division of Surgery, Tergooi Hospitals, Blaricum, The Netherlands.
Bouma WH; Division of Surgery, Gelre Hospitals, Apeldoorn, The Netherlands.
Rijna H; Division of Surgery, Kennemer Gasthuis, Haarlem, The Netherlands.
Vente JP; Division of Surgery, Zuwe Hofpoort Hospital, Woerden, The Netherlands.
Kieffer JM; Division of Psychosocial Research and Epidemiology, The Netherlands Cancer Institute, Amsterdam, The Netherlands.
Valdimarsdottir HB; Department of Psychology, Reykjavik University, Reykjavik, Iceland.
Rutgers EJ; Division of Surgery, The Netherlands Cancer Institute, Amsterdam, The Netherlands.
Witkamp AJ; Division of Surgery, University Medical Center Utrecht, Utrecht, The Netherlands.
Aaronson NK; Division of Psychosocial Research and Epidemiology, The Netherlands Cancer Institute, Amsterdam, The Netherlands.
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Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2016 Feb; Vol. 18 (2), pp. 137-44. Date of Electronic Publication: 2015 Apr 23.
Typ publikacji :
Journal Article; Randomized Controlled Trial; Research Support, Non-U.S. Gov't
MeSH Terms :
Genetic Testing*
Breast Neoplasms/*psychology
Genetic Counseling/*psychology
Adult ; Aged ; Breast Neoplasms/diagnosis ; Female ; Genes, BRCA1 ; Genes, BRCA2 ; Humans ; Middle Aged ; Time Factors ; Young Adult
Czasopismo naukowe
Tytuł :
Timing of risk reducing mastectomy in breast cancer patients carrying a BRCA1/2 mutation: retrospective data from the Dutch HEBON study.
Autorzy :
Wevers MR; Division of Psychosocial Research and Epidemiology, The Netherlands Cancer Institute, PO Box 90203, 1006 BE, Amsterdam, The Netherlands, m.wevers@umcutrecht.nl.
Schmidt MK
Engelhardt EG
Verhoef S
Hooning MJ
Kriege M
Seynaeve C
Collée M
van Asperen CJ
Tollenaar RA
Koppert LB
Witkamp AJ
Rutgers EJ
Aaronson NK
Rookus MA
Ausems MG
Pokaż więcej
Źródło :
Familial cancer [Fam Cancer] 2015 Sep; Vol. 14 (3), pp. 355-63.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
BRCA1 Protein/*genetics
BRCA2 Protein/*genetics
Breast Neoplasms/*genetics
Breast Neoplasms/*prevention & control
Mastectomy/*statistics & numerical data
Adult ; Aged ; Breast Neoplasms/surgery ; Cohort Studies ; Female ; Genetic Counseling/statistics & numerical data ; Genetic Testing/statistics & numerical data ; Heterozygote ; Humans ; Middle Aged ; Mutation ; Netherlands ; Retrospective Studies ; Risk Factors ; Time Factors ; Young Adult
Czasopismo naukowe
Tytuł :
Impact of rapid genetic counselling and testing on the decision to undergo immediate or delayed prophylactic mastectomy in newly diagnosed breast cancer patients: findings from a randomised controlled trial.
Autorzy :
Wevers MR; 1] Division of Psychosocial Research and Epidemiology, The Netherlands Cancer Institute, PO Box 90203, 1006 BE Amsterdam, The Netherlands [2] Division of Biomedical Genetics, University Medical Center Utrecht, PO Box 85090, 3508 AB Utrecht, The Netherlands.
Aaronson NK; Division of Psychosocial Research and Epidemiology, The Netherlands Cancer Institute, PO Box 90203, 1006 BE Amsterdam, The Netherlands.
Verhoef S; Family Cancer Clinic, The Netherlands Cancer Institute, PO Box 90203, 1006 BE Amsterdam, The Netherlands.
Bleiker EM; Division of Psychosocial Research and Epidemiology & Family Cancer Clinic, The Netherlands Cancer Institute, PO Box 90203, 1006 BE Amsterdam, The Netherlands.
Hahn DE; Department of Psychosocial Counseling, The Netherlands Cancer Institute, PO Box 90203, 1006 BE Amsterdam, The Netherlands.
Kuenen MA; Division of Psychosocial Research and Epidemiology, The Netherlands Cancer Institute, PO Box 90203, 1006 BE Amsterdam, The Netherlands.
van der Sanden-Melis J; Division of Biomedical Genetics, University Medical Center Utrecht, PO Box 85090, 3508 AB Utrecht, The Netherlands.
Brouwer T; Division of Biomedical Genetics, University Medical Center Utrecht, PO Box 85090, 3508 AB Utrecht, The Netherlands.
Hogervorst FB; Division of Pathology, The Netherlands Cancer Institute, PO Box 90203, 1006 BE Amsterdam, The Netherlands.
van der Luijt RB; Division of Biomedical Genetics, University Medical Center Utrecht, PO Box 85090, 3508 AB Utrecht, The Netherlands.
Valdimarsdottir HB; Department of Oncological Sciences, Mount Sinai School of Medicine, Icahn Medical Institute, 1425 Madison Avenue, New York, NY 10029, USA.
van Dalen T; Division of Surgery, Diakonessen Hospital, PO Box 80250, 3508 TG Utrecht, The Netherlands.
Theunissen EB; Division of Surgery, St Antonius Hospital, PO Box 2500, 3430EM Nieuwegein, The Netherlands.
van Ooijen B; Division of Surgery, Meander Medical Center, PO Box 1502, 3800 BM Amersfoort, The Netherlands.
de Roos MA; Division of Surgery, Rivierenland Hospital, PO Box 6024, 4000 HA Tiel, The Netherlands.
Borgstein PJ; Division of Surgery, Onze Lieve Vrouwe Gasthuis, PO Box 95500, 1090 HM Amsterdam, The Netherlands.
Vrouenraets BC; Division of Surgery, St Lucas Andreas Hospital, PO Box 9243, 1006 AE Amsterdam, The Netherlands.
Vriens E; Division of Surgery, Tergooi Hospitals, PO Box 10016, 1201 DA Blaricum, The Netherlands.
Bouma WH; Division of Surgery, Gelre Hospitals, Albert Schweitzerlaan 31, 7334 DZ Apeldoorn, The Netherlands.
Rijna H; Division of Surgery, Kennemer Gasthuis, PO Box 417, 2000 AK Haarlem, The Netherlands.
Vente JP; Division of Surgery, Zuwe Hofpoort Hospital, PO Box 8000, 3440 JD Woerden, The Netherlands.
Witkamp AJ; Division of Surgery, University Medical Center Utrecht, PO Box 85500, 3508GA Utrecht, The Netherlands.
Rutgers EJ; Division of Surgery, the Netherlands Cancer Institute, PO Box 90203, 1006 BE Amsterdam, The Netherlands.
Ausems MG; Division of Biomedical Genetics, University Medical Center Utrecht, PO Box 85090, 3508 AB Utrecht, The Netherlands.
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Źródło :
British journal of cancer [Br J Cancer] 2014 Feb 18; Vol. 110 (4), pp. 1081-7. Date of Electronic Publication: 2014 Jan 14.
Typ publikacji :
Journal Article; Randomized Controlled Trial; Research Support, Non-U.S. Gov't
MeSH Terms :
Choice Behavior*
Genetic Counseling*
Health Impact Assessment*
Breast Neoplasms/*genetics
Breast Neoplasms/*surgery
Adult ; Aged ; BRCA1 Protein/genetics ; BRCA2 Protein/genetics ; Breast Neoplasms/prevention & control ; Female ; Genetic Predisposition to Disease ; Genetic Testing ; Humans ; Mastectomy ; Middle Aged ; Surveys and Questionnaires ; Young Adult
Czasopismo naukowe
Tytuł :
Breast cancer genetic counseling after diagnosis but before treatment: a pilot study on treatment consequences and psychological impact.
Autorzy :
Wevers MR; Division of Psychosocial Research and Epidemiology, The Netherlands Cancer Institute, Amsterdam, The Netherlands.
Hahn DE
Verhoef S
Bolhaar MD
Ausems MG
Aaronson NK
Bleiker EM
Pokaż więcej
Źródło :
Patient education and counseling [Patient Educ Couns] 2012 Oct; Vol. 89 (1), pp. 89-95. Date of Electronic Publication: 2012 Apr 28.
Typ publikacji :
Journal Article
MeSH Terms :
Decision Making*
Breast Neoplasms/*genetics
Breast Neoplasms/*psychology
Genetic Counseling/*methods
Mastectomy/*psychology
Adaptation, Psychological ; Adult ; Breast Neoplasms/diagnosis ; Breast Neoplasms/surgery ; Female ; Genes, BRCA2 ; Genetic Counseling/psychology ; Genetic Predisposition to Disease ; Genetic Testing/statistics & numerical data ; Humans ; Middle Aged ; Mutation/genetics ; Netherlands ; Patient Preference ; Patient Satisfaction ; Pilot Projects ; Risk Factors ; Socioeconomic Factors ; Stress, Psychological ; Surveys and Questionnaires ; Treatment Outcome ; Young Adult
Czasopismo naukowe
Tytuł :
Behavioral and psychosocial effects of rapid genetic counseling and testing in newly diagnosed breast cancer patients: design of a multicenter randomized clinical trial.
Autorzy :
Wevers MR; Division of Psychosocial Research and Epidemiology, The Netherlands Cancer Institute, PO Box 90203, 1006 BE Amsterdam, The Netherlands.
Ausems MG
Verhoef S
Bleiker EM
Hahn DE
Hogervorst FB
van der Luijt RB
Valdimarsdottir HB
van Hillegersberg R
Rutgers EJ
Aaronson NK
Pokaż więcej
Źródło :
BMC cancer [BMC Cancer] 2011 Jan 10; Vol. 11, pp. 6. Date of Electronic Publication: 2011 Jan 10.
Typ publikacji :
Journal Article; Multicenter Study; Randomized Controlled Trial; Research Support, Non-U.S. Gov't
MeSH Terms :
Breast Neoplasms/*genetics
Breast Neoplasms/*psychology
Genetic Counseling/*psychology
Genetic Testing/*psychology
Adult ; BRCA1 Protein/genetics ; BRCA2 Protein/genetics ; Breast Neoplasms/surgery ; Follow-Up Studies ; Humans ; Mastectomy/psychology ; Middle Aged ; Mutation ; Patient Education as Topic ; Risk Reduction Behavior
Czasopismo naukowe
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