المؤلفون: Hol, JA, Jongmans, MCJ, Sudour-Bonnange, H, Ramirez-Villar, GL, Chowdhury, T, Rechnitzer, C, Pal, N, Schleiermacher, G, Karow, A, Kuiper, RP, de Camargo, B, Avcin, S, Redzic, D, Wachtel, A, Segers, H, Vujanic, GM, van Tinteren, H, Bergeron, C, Pritchard-Jones, K, Graf, N, van den Heuvel-Eibrink, MM

المصدر: Cancer. 127(4):628-638

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:145061245

المؤلفون: van der Beek, JN, Hol, JA, Coulomb-l'Hermine, A, Graf, N, van Tinteren, H, Pritchard-Jones, K, Houwing, ME, de Krijger, RR, Vujanic, GM, Dzhuma, K, Schenk, JP, Littooij, AS, Ramirez-Villar, GL, Murphy, D, Ray, S, Al-Saadi, R, Gessler, M, Godzinski, J, Ruebe, C, Collini, P, Verschuur, AC, Frisk, T, Vokuhl, C, Hulsbergen-van de Kaa, CA, de Camargo, B, Sandstedt, B, Selle, B, Tytgat, GAM, van den Heuvel-Eibrink, MM

المصدر: International journal of cancer. 148(11):2724-2735

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:145847526

المؤلفون: Van der Beek, JN, Hol, JA, Coulomb-L'Hermine, A, Graf, N, Van Tinteren, H, Pritchard-Jones, K, Houwing, ME, DeKrijger, RR, Vujanic, GM, Dzhuma, K, Littooij, AS, Ramirez-Villar, GL, Murphy, D, Ray, S, Al-Saadi, R, Gessler, M, Godzinski, J, Ruebe, C, Collini, P, Verschuur, AC, Frisk, T, Vokuhl, C, Hulsbergen-Van De Kaa, CA, De Camargo, B, Sandstedt, B, Selle, B, Tytgat, G, Van den Heuvel-Eibrink, MM

المصدر: PEDIATRIC BLOOD & CANCER. 67:S276-S277

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:145147074

المؤلفون: Rots D; Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Genetics Laboratory, Children's Clinical University Hospital, Riga, Latvia., Bouman A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Yamada A; Cellular Memory Laboratory, RIKEN Cluster for Pioneering Research, RIKEN, Wako, Saitama, Japan., Levy M; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., Dingemans AJM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., de Vries BBA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Ruiterkamp-Versteeg M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., de Leeuw N; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., de Boer E; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Kummeling J; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., van Bon B; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., van Bokhoven H; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Kasri NN; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Venselaar H; Department of Medical BioSciences, Radboudumc, Nijmegen, the Netherlands., Alders M; Department of Human Genetics, Amsterdam UMC location University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Reproduction and Development research institute, Amsterdam, the Netherlands., Kerkhof J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., McConkey H; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada., Kuechler A; Institute of Human Genetics, University Hospital Essen, Essen, Germany., Elffers B; Cordaan, Amsterdam, the Netherlands; Department of Medical Care for Patients with Intellectual Disability, AMSTA, Amsterdam, the Netherlands., van Beeck Calkoen R; Cordaan, Amsterdam, the Netherlands., Hofman S; Evean Oostergouw, Zaandam, the Netherlands., Smith A; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Valenzuela MI; Department of Clinical and Molecular Genetics and Rare Disease Unit Hospital Vall d'Hebron, Barcelona, Spain; Medicine Genetics Group, Vall Hebron Research Institute, Barcelona, Spain., Srivastava S; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Frazier Z; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Maystadt I; Institut de Pathologie et de Génétique Centre de Génétique Humaineavenue G. Lemaître, 256041 Gosselies, Belgium., Piscopo C; Medical and Laboratory Unit, Antonio cardarelli Hospital, via A.Cardarelli 9, 80131 Naples, Italy., Merla G; Department of Molecular Medicine and Medical Biotechnology, University of Naples, Naples, Italy; Laboratory of Regulatory and Functional Genomics, fondazione IRCCS casa sollievo della sofferenza, san giovanni rotondo, Foggia, Italy., Balasubramanian M; Division of Clinical Medicine, University of Sheffield, Sheffield, UK; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, United Kingdom., Santen GWE; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands., Metcalfe K; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Park SM; Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Pasquier L; Reference Center for Rare Diseases, Hôpital Sud - CHU Rennes, Rennes, France., Banka S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Donnai D; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Weisberg D; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Strobl-Wildemann G; MVZ Humangenetik Ulm, Ulm, Germany., Wagemans A; Maasveld, Koraal, Maastricht, the Netherlands; Department of Family Medicine, Faculty of Health, Medicine and Life Science, Maastricht University, Maastricht, the Netherlands., Vreeburg M; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands., Baralle D; Human Development and Health, Faculty of Medicine, University Hospital Southampton, Southampton, Hampshire, UK., Foulds N; Wessex Regional Genetics Services, UHS NHS Foundation Trust, Southampton, United Kingdom., Scurr I; Department of Clinical Genetics, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK., Brunetti-Pierri N; Department of Translational Medicine, Federico II University of Naples, Naples, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy; Scuola Superiore Meridionale (SSM, School of Advanced Studies), Genomics and Experimental Medicine Program, University of Naples Federico II, Naples, Italy., van Hagen JM; Amsterdam UMC Location Vrije Universiteit Amsterdam, Department of Human Genetics, Amsterdam, the Netherlands., Bijlsma EK; Department of Clinical Genetica, Leiden University Medical Center, Leiden, the Netherlands., Hakonen AH; Department of Clinical Genetics, HUSLAB, HUS Diagnostic Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Courage C; Department of Clinical Genetics, HUSLAB, HUS Diagnostic Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Genevieve D; Université Montpellier, Unité INSERM U1183, Montpellier, France; Centre de reference Anomalies du développement, ERN ITHACA, Service de génétique Clinique, CHU Montpellier, Montpellier, France., Pinson L; Centre de reference Anomalies du développement, ERN ITHACA, Service de génétique Clinique, CHU Montpellier, Montpellier, France., Forzano F; Clinical Genetics Department 7th Floor Borough WingGuy's Hospital, Guy's & St Thomas' NHS Foundation TrustGreat Maze Pond, London, UK., Deshpande C; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Kluskens ML; Prinsenstichting, Purmerend, the Netherlands., Welling L; Prinsenstichting, Purmerend, the Netherlands., Plomp AS; Department of Human Genetics, Amsterdam UMC location University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Reproduction and Development research institute, Amsterdam, the Netherlands., Vanhoutte EK; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands., Kalsner L; Department of Pediatrics, Division of Neurology, Connecticut Children's, University of Connecticut, Farmington, CT, USA., Hol JA; Clinical Genetics Department, Erasmus Medical Centre, Rotterdam, the Netherlands., Putoux A; Hospices Civils de Lyon, Service de Génétique - Centre de Référence Anomalies du Développement, Bron, France; Centre de Recherche en Neurosciences de Lyon, Équipe GENDEV, INSERM U1028 CNRS UMR5292, Université Claude Bernard Lyon 1, Lyon, France., Lazier J; Regional Genetics Program, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada., Vasudevan P; Department of Clinical Genetics, University Hospitals of Leicester NHS Trust, Leicester, UK., Ames E; Division of Pediatric Genetics, Metabolism, and Genomic Medicine, C.S. Mott Children's Hospital, Michigan Medicine, Ann Arbor, MI, USA., O'Shea J; Division of Pediatric Genetics, Metabolism, and Genomic Medicine, C.S. Mott Children's Hospital, Michigan Medicine, Ann Arbor, MI, USA., Lederer D; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium., Fleischer J; Southern Illinois University School of Medicine, Department of Pediatrics, Springfield, IL, USA., O'Connor M; Southern Illinois University School of Medicine, Department of Pediatrics, Springfield, IL, USA., Pauly M; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Vasileiou G; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany; Centre for Rare Diseases Erlangen (ZSEER), Erlangen, Germany., Reis A; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany; Centre for Rare Diseases Erlangen (ZSEER), Erlangen, Germany., Kiraly-Borri C; Genetic Health Western Australia, Department of Health King Edward Memorial Hospital, Subiaco, WA 6008, Australia., Bouman A; Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands., Barnett C; Paediatric and Reproductive Genetics Unit 8th Floor, Clarence Rieger Building Women's and Children's Hospital, 72 King William Road North, Adelaide, SA 5006, Australia., Nezarati M; Genetics, North York General Hospital, Toronto, ON, Canada; University of Toronto, Toronto, ON, Canada., Borch L; Department of Medical Genetics, North York General Hospital, University of Toronto, Toronto, ON, Canada., Beunders G; Department of Genetics, University Medical Center Groningen, Groningen, the Netherlands., Özcan K; Neurodevelopmental Treatment Association Çocuk Fizyoterapistleri Derneği Bobath Terapistleri Derneği, Ankara, Turkey., Miot S; Geriatrics department, Montpellier University Hospital, MUSE University, Montpellier, France; INSERM U1298, INM, Montpellier, France., Volker-Touw CML; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., van Gassen KLI; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Cappuccio G; Department of Translational Medicine, Section of Pediatrics, Federico II University, Via Pansini 5, Naples, Italy; TIGEM (Telethon Institute of Genetics and Medicine), Via Campi Flegrei 34, 80078 Pozzuoli (NA), Italy., Janssens K; Department of Medical Genetics, Antwerp University Hospital/University of Antwerp, Edegem, Wilrijk, Belgium., Mor N; Sheba Cancer Research Center, Chaim Sheba Medical Center, Ramat Gan, Israel., Shomer I; Sheba Cancer Research Center, Chaim Sheba Medical Center, Ramat Gan, Israel., Dominissini D; Sheba Cancer Research Center, Chaim Sheba Medical Center, Ramat Gan, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Ramat Aviv, Israel., Tedder ML; Greenwood Genetic Center, Greenwood, SC, USA., Muir AM; GeneDx Inc., Gaithersburg, MD 20877, USA., Sadikovic B; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., Brunner HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands., Vissers LELM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands., Shinkai Y; Cellular Memory Laboratory, RIKEN Cluster for Pioneering Research, RIKEN, Wako, Saitama, Japan. Electronic address: yshinkai@riken.jp., Kleefstra T; Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Center of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, the Netherlands. Electronic address: t.kleefstra@erasmusmc.nl.

المصدر: American journal of human genetics [Am J Hum Genet] 2024 Jul 09. Date of Electronic Publication: 2024 Jul 09.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

المؤلفون: Edel GG; Department of Pediatric Surgery, Erasmus MC Sophia Children's Hospital, Rotterdam, The Netherlands., Hol JA; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands., Slot E; Department of Pediatric Surgery, Erasmus MC Sophia Children's Hospital, Rotterdam, The Netherlands; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands., von der Thüsen JH; Department of Pathology and Clinical Bioinformatics, Erasmus MC, Rotterdam, The Netherlands., van Bever Y; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands., de Jonge RCJ; Pediatric Intensive Care Unit, Department of Pediatrics and Pediatric Surgery, Erasmus MC Sophia Children's Hospital, Rotterdam, The Netherlands., van Tienhoven M; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands., Brüggenwirth HT; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands., de Klein A; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands., Rottier RJ; Department of Pediatric Surgery, Erasmus MC Sophia Children's Hospital, Rotterdam, The Netherlands. Electronic address: r.rottier@erasmusmc.nl.

المصدر: Laboratory investigation; a journal of technical methods and pathology [Lab Invest] 2023 Nov; Vol. 103 (11), pp. 100233. Date of Electronic Publication: 2023 Aug 09.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 0376617 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0307 (Electronic) Linking ISSN: 00236837 NLM ISO Abbreviation: Lab Invest Subsets: MEDLINE

مواضيع طبية MeSH: Persistent Fetal Circulation Syndrome*/diagnosis , Persistent Fetal Circulation Syndrome*/genetics , Persistent Fetal Circulation Syndrome*/pathology, Pulmonary Alveoli/*abnormalities, Infant, Newborn ; Humans ; Clinical Relevance ; Pulmonary Alveoli/pathology ; Forkhead Transcription Factors/genetics

SCR Disease Name: Alveolar capillary dysplasia

المؤلفون: Copier JS; Experimental Cardiology, Amsterdam UMC location University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands.; Amsterdam Cardiovascular Sciences, Heart Failure & Arrhythmias, Amsterdam, The Netherlands.; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart: ERN GUARD-Heart'., Bootsma M; Department of Cardiology, Leiden University Medical Center, Albinusdreef 2, 2300 Leiden, The Netherlands., Ng CA; Mark Cowley Lidwill Research Program in Cardiac Electrophysiology, Victor Chang Cardiac Research Institute, Darlinghurst, New South Wales, Australia.; School of Clinical Medicine, UNSW Sydney, Darlinghurst, New South Wales, Australia., Wilde AAM; Experimental Cardiology, Amsterdam UMC location University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands.; Amsterdam Cardiovascular Sciences, Heart Failure & Arrhythmias, Amsterdam, The Netherlands.; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart: ERN GUARD-Heart'., Bertels RA; Department of Paediatric Cardiology, Leiden University Medical Center, Willem-Alexander Children's Hospital, Albinusdreef 2, 2333 Leiden, Netherlands., Bikker H; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart: ERN GUARD-Heart'.; Human Genetics, Amsterdam UMC location University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands., Christiaans I; Department of Clinical Genetics, University Medical Centre Groningen, 9713GZ Groningen, The Netherlands., van der Crabben SN; Human Genetics, Amsterdam UMC location University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands., Hol JA; Erasmus MC, Clinical Genetics, Doctor Molewaterplein 40, 3015 Rotterdam, The Netherlands., Koopmann TT; Clinical Genetics, Leiden University Medical Center, Albinusdreef 2, 2333 Leiden, The Netherlands., Knijnenburg J; Clinical Genetics, Leiden University Medical Center, Albinusdreef 2, 2333 Leiden, The Netherlands., Lommerse AAJ; Department of Cardiology, Leiden University Medical Center, Albinusdreef 2, 2300 Leiden, The Netherlands., van der Smagt JJ; Clinical Genetics, University Medical Center Utrecht, Lundlaan 6, Utrecht, The Netherlands., Bezzina CR; Experimental Cardiology, Amsterdam UMC location University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands.; Amsterdam Cardiovascular Sciences, Heart Failure & Arrhythmias, Amsterdam, The Netherlands.; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart: ERN GUARD-Heart'., Vandenberg JI; Mark Cowley Lidwill Research Program in Cardiac Electrophysiology, Victor Chang Cardiac Research Institute, Darlinghurst, New South Wales, Australia.; School of Clinical Medicine, UNSW Sydney, Darlinghurst, New South Wales, Australia., Verkerk AO; Experimental Cardiology, Amsterdam UMC location University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands.; Amsterdam Cardiovascular Sciences, Heart Failure & Arrhythmias, Amsterdam, The Netherlands.; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart: ERN GUARD-Heart'.; Medical Biology, Amsterdam UMC location University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands., Barge-Schaapveld DQCM; Clinical Genetics, Leiden University Medical Center, Albinusdreef 2, 2333 Leiden, The Netherlands., Lodder EM; Experimental Cardiology, Amsterdam UMC location University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands.; Amsterdam Cardiovascular Sciences, Heart Failure & Arrhythmias, Amsterdam, The Netherlands.; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart: ERN GUARD-Heart'.

المصدر: Human molecular genetics [Hum Mol Genet] 2023 Mar 20; Vol. 32 (7), pp. 1072-1082.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

مواضيع طبية MeSH: Long QT Syndrome*/genetics , Long QT Syndrome*/metabolism, Humans ; Ether-A-Go-Go Potassium Channels/genetics ; HEK293 Cells ; Penetrance ; Heart ; ERG1 Potassium Channel/genetics

المؤلفون: Bakhuizen JJ; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Hopman SMJ; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Bosscha MI; Department of Ophthalmology, Amsterdam UMC, Vrije Universiteit Amsterdam, Cancer Center Amsterdam, Amsterdam, the Netherlands., Dommering CJ; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands., van den Heuvel-Eibrink MM; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.; University Medical Center-Wilhelmina Children's Hospital, Utrecht, the Netherlands., Hol JA; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands., Kester LA; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands., Koudijs MJ; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands., Langenberg KPS; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands., Loeffen JLC; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands., van der Lugt J; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands., Moll AC; Department of Ophthalmology, Amsterdam UMC, Vrije Universiteit Amsterdam, Cancer Center Amsterdam, Amsterdam, the Netherlands., van Noesel MM; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.; Division of Imaging and Oncology, University Medical Center Utrecht, Utrecht, the Netherlands., Smetsers SE; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands., de Vos-Kerkhof E; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands., Merks JHM; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.; Division of Imaging and Oncology, University Medical Center Utrecht, Utrecht, the Netherlands., Kuiper RP; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands., Jongmans MCJ; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands.

المصدر: JAMA network open [JAMA Netw Open] 2023 Feb 01; Vol. 6 (2), pp. e2254157. Date of Electronic Publication: 2023 Feb 01.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: American Medical Association Country of Publication: United States NLM ID: 101729235 Publication Model: Electronic Cited Medium: Internet ISSN: 2574-3805 (Electronic) Linking ISSN: 25743805 NLM ISO Abbreviation: JAMA Netw Open Subsets: MEDLINE

مواضيع طبية MeSH: Neurofibromatosis 1*, Humans ; Cohort Studies ; Retrospective Studies ; Disease Susceptibility ; Genotype

المؤلفون: Bon SBB; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., Wouters RHP; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., Hol JA; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., Jongmans MCJ; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Division of Child Health, UMCU-Wilhelmina's Children's Hospital, Utrecht, The Netherlands., van den Heuvel-Eibrink MM; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.; Division of Child Health, UMCU-Wilhelmina's Children's Hospital, Utrecht, The Netherlands., Grootenhuis MA; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.; Division of Child Health, UMCU-Wilhelmina's Children's Hospital, Utrecht, The Netherlands.

المصدر: Psycho-oncology [Psychooncology] 2022 Oct; Vol. 31 (10), pp. 1692-1699. Date of Electronic Publication: 2022 Aug 25.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley Country of Publication: England NLM ID: 9214524 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1099-1611 (Electronic) Linking ISSN: 10579249 NLM ISO Abbreviation: Psychooncology Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Predisposition to Disease* , Kidney Neoplasms*/genetics, Child ; Child, Preschool ; Disclosure ; Female ; Humans ; Parents/psychology ; Qualitative Research

المؤلفون: Hol JA; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands., Kuiper RP; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., van Dijk F; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands., Waanders E; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., van Peer SE; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands., Koudijs MJ; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Bladergroen R; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands., van Reijmersdal SV; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands., Morgado LM; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands., Bliek J; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., Lombardi MP; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., Hopman S; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Drost J; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.; Oncode Institute, Utrecht, the Netherlands., de Krijger RR; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.; Department of Pathology, University Medical Center Utrecht, Utrecht, the Netherlands., van den Heuvel-Eibrink MM; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands., Jongmans MCJ; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.

المصدر: Journal of clinical oncology : official journal of the American Society of Clinical Oncology [J Clin Oncol] 2022 Jun 10; Vol. 40 (17), pp. 1892-1902. Date of Electronic Publication: 2022 Mar 01.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: American Society of Clinical Oncology Country of Publication: United States NLM ID: 8309333 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1527-7755 (Electronic) Linking ISSN: 0732183X NLM ISO Abbreviation: J Clin Oncol Subsets: MEDLINE

مواضيع طبية MeSH: Beckwith-Wiedemann Syndrome*/diagnosis , Beckwith-Wiedemann Syndrome*/genetics , Beckwith-Wiedemann Syndrome*/pathology , Kidney Neoplasms*/epidemiology , Kidney Neoplasms*/genetics , Kidney Neoplasms*/pathology , Wilms Tumor*/epidemiology , Wilms Tumor*/genetics , Wilms Tumor*/pathology, Adult ; Causality ; Child ; Genetic Predisposition to Disease ; Genomics ; Germ-Line Mutation ; Humans ; Prevalence

المؤلفون: Roy P; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., van Peer SE; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., de Witte MM; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., Tytgat GAM; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., Karim-Kos HE; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.; Department of Research and Development, Netherlands Comprehensive Cancer Organization (IKNL), Utrecht, The Netherlands., van Grotel M; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., van de Ven CP; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., Mavinkurve-Groothuis AMC; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., Merks JHM; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., Kuiper RP; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.; Department of Clinical Genetics, University Medical Center Utrecht (UMCU), Utrecht, The Netherlands., Hol JA; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., Janssens GOR; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.; Department of Radiation Oncology, University Medical Center Utrecht (UMCU), Utrecht, The Netherlands., de Krijger RR; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.; Department of Pathology, University Medical Center Utrecht (UMCU), Utrecht, The Netherlands., Jongmans MCJ; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.; Department of Clinical Genetics, University Medical Center Utrecht (UMCU), Utrecht, The Netherlands., Drost J; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.; Oncode Institute, Utrecht, The Netherlands., van der Steeg AFW; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., Littooij AS; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.; Department of Radiology and Nuclear Medicine, University Medical Center Utrecht/Wilhelmina Children's Hospital (UMCU), Utrecht, The Netherlands., Wijnen MHWA; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., van Tinteren H; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., van den Heuvel-Eibrink MM; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.

المصدر: PloS one [PLoS One] 2022 Jan 13; Vol. 17 (1), pp. e0261729. Date of Electronic Publication: 2022 Jan 13 (Print Publication: 2022).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

مواضيع طبية MeSH: Kidney Neoplasms/*diagnostic imaging , Kidney Neoplasms/*drug therapy, Adolescent ; Antineoplastic Combined Chemotherapy Protocols ; Child ; Child, Preschool ; Dactinomycin ; Disease-Free Survival ; Humans ; Infant ; Neoplasm Staging ; Netherlands ; Prognosis ; Treatment Outcome ; Vincristine

SCR Protocol: SIOP protocol