المؤلفون: Kemps, PG, Zondag, TCE, Arnardottir, HB, Solleveld-Westerink, N, Borst, J, Steenwijk, EC, van Egmond, D, Swennenhuis, JF, Stelloo, E, Trambusti, I, Verdijk, RM, van Noesel, CJM, Cleven, AHG, Scheijde-Vermeulen, MA, Koudijs, MJ, Krskova, L, Hawkins, C, Egeler, RM, Brok, J, Greenwood, TV, Svoijr, K, Beishuizen, A, van Laar, JAM, Potschger, U, Hutter, C, Sieni, E, Minkov, M, Abla, O, van Wezel, T, van den Bos, C, van Halteren, AGS

المصدر: Blood advances. 7(4):664-679

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:152164414

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

المؤلفون: Bakhuizen JJ; Princess Máxima Center for Pediatric Oncology, Utrecht, Netherlands; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands., van Dijk F; Princess Máxima Center for Pediatric Oncology, Utrecht, Netherlands., Koudijs MJ; Princess Máxima Center for Pediatric Oncology, Utrecht, Netherlands., Bladergroen RS; Princess Máxima Center for Pediatric Oncology, Utrecht, Netherlands., Bon SBB; Princess Máxima Center for Pediatric Oncology, Utrecht, Netherlands., Hopman SMJ; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands., Kester LA; Princess Máxima Center for Pediatric Oncology, Utrecht, Netherlands., Kranendonk MEG; Princess Máxima Center for Pediatric Oncology, Utrecht, Netherlands., Loeffen JLC; Princess Máxima Center for Pediatric Oncology, Utrecht, Netherlands., Smetsers SE; Princess Máxima Center for Pediatric Oncology, Utrecht, Netherlands., Sonneveld E; Princess Máxima Center for Pediatric Oncology, Utrecht, Netherlands., Tachdjian M; Research Institute of the McGill University Health Centre, Child Health and Human Development Program, Montreal, QC, Canada., de Vos-Kerkhof E; Princess Máxima Center for Pediatric Oncology, Utrecht, Netherlands., Goudie C; Research Institute of the McGill University Health Centre, Child Health and Human Development Program, Montreal, QC, Canada; Department of Pediatrics, Division of Hematology-Oncology, McGill University Health Centre, Montreal, QC, Canada., Merks JHM; Princess Máxima Center for Pediatric Oncology, Utrecht, Netherlands; Division of Imaging and Oncology, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands., Kuiper RP; Princess Máxima Center for Pediatric Oncology, Utrecht, Netherlands; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands., Jongmans MCJ; Princess Máxima Center for Pediatric Oncology, Utrecht, Netherlands; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands. Electronic address: m.c.j.jongmans-3@umcutrecht.nl.

المصدر: The Lancet. Child & adolescent health [Lancet Child Adolesc Health] 2024 Aug 16. Date of Electronic Publication: 2024 Aug 16.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Ltd Country of Publication: England NLM ID: 101712925 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2352-4650 (Electronic) Linking ISSN: 23524642 NLM ISO Abbreviation: Lancet Child Adolesc Health Subsets: MEDLINE

المؤلفون: Boer JM; Princess Máxima Center for Pediatric Oncology Utrecht The Netherlands., Ilan U; Princess Máxima Center for Pediatric Oncology Utrecht The Netherlands., Boeree A; Princess Máxima Center for Pediatric Oncology Utrecht The Netherlands., Langenberg KPS; Princess Máxima Center for Pediatric Oncology Utrecht The Netherlands., Koster J; Amsterdam UMC University of Amsterdam, Center for Experimental and Molecular Medicine, Laboratory of Experimental Oncology and Radiobiology Amsterdam The Netherlands., Koudijs MJ; Princess Máxima Center for Pediatric Oncology Utrecht The Netherlands., Hehir-Kwa JY; Princess Máxima Center for Pediatric Oncology Utrecht The Netherlands., Nierkens S; Princess Máxima Center for Pediatric Oncology Utrecht The Netherlands.; Center for Translational Immunology UMC Utrecht Utrecht The Netherlands., Rossi C; Department of Pediatric Oncology, Hematology, and Immunology Heidelberg University Hospital Heidelberg Germany., Molenaar JJ; Princess Máxima Center for Pediatric Oncology Utrecht The Netherlands., Goemans BF; Princess Máxima Center for Pediatric Oncology Utrecht The Netherlands., den Boer ML; Princess Máxima Center for Pediatric Oncology Utrecht The Netherlands.; Department of Pediatric Oncology and Hematology Erasmus Medical Center - Sophia Children's Hospital Rotterdam The Netherlands., Zwaan CM; Princess Máxima Center for Pediatric Oncology Utrecht The Netherlands.; Department of Pediatric Oncology and Hematology Erasmus Medical Center - Sophia Children's Hospital Rotterdam The Netherlands.

المصدر: HemaSphere [Hemasphere] 2024 Jul 15; Vol. 8 (7), pp. e122. Date of Electronic Publication: 2024 Jul 15 (Print Publication: 2024).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 101740619 Publication Model: eCollection Cited Medium: Internet ISSN: 2572-9241 (Electronic) Linking ISSN: 25729241 NLM ISO Abbreviation: Hemasphere Subsets: PubMed not MEDLINE

المؤلفون: van der Smagt JJ; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Lampri AP; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., de Lange I; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Alders M; Amsterdam UMC, Department of Human Genetics, Genome Diagnostics Laboratory, Amsterdam Reproduction & Development, University of Amsterdam, Amsterdam, the Netherlands., Houben ML; Department of Pediatrics, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, the Netherlands., Koudijs MJ; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., van Jaarsveld RH; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands. Electronic address: r.h.vanjaarsveld@umcutrecht.nl.

المصدر: European journal of medical genetics [Eur J Med Genet] 2024 Jun; Vol. 69, pp. 104949. Date of Electronic Publication: 2024 May 24.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: X-linked Nuclear Protein*/genetics , Introns*, Humans ; Male ; Mutation ; Mental Retardation, X-Linked/genetics ; Mental Retardation, X-Linked/pathology ; Mental Retardation, X-Linked/diagnosis

المؤلفون: Verschuur AVD; Department of Pathology., Kok ASM; Department of Pathology., Morsink FHM; Department of Pathology., de Leng WWJ; Department of Pathology., van den Broek MFM; Department of Endocrine Oncology, University Medical Center Utrecht Cancer Center, Utrecht University, Utrecht, The Netherlands., Koudijs MJ; Department of Medical Genetics., Offerhaus JA; Department of Pathology., Valk GD; Department of Endocrine Oncology, University Medical Center Utrecht Cancer Center, Utrecht University, Utrecht, The Netherlands., Vriens MR; Department of Endocrine Surgical Oncology, University Medical Center Utrecht., van Nesselrooij BPM; Department of Medical Genetics., Hackeng WM; Department of Pathology., Brosens LAA; Department of Pathology.

المصدر: The American journal of surgical pathology [Am J Surg Pathol] 2023 Jul 01; Vol. 47 (7), pp. 785-791. Date of Electronic Publication: 2023 May 18.

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

بيانات الدورية: Publisher: Wolters Kluwer Health, Inc Country of Publication: United States NLM ID: 7707904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-0979 (Electronic) Linking ISSN: 01475185 NLM ISO Abbreviation: Am J Surg Pathol Subsets: MEDLINE

مواضيع طبية MeSH: Multiple Endocrine Neoplasia Type 1*/diagnosis , Multiple Endocrine Neoplasia Type 1*/genetics , Parathyroid Neoplasms*/diagnosis , Parathyroid Neoplasms*/genetics, Humans ; Immunohistochemistry ; Genetic Testing ; Germ-Line Mutation

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: Heemskerk-Gerritsen BAM; Department of Medical Oncology, Erasmus MC Cancer Institute, Rotterdam, the Netherlands., Hollestelle A; Department of Medical Oncology, Erasmus MC Cancer Institute, Rotterdam, the Netherlands., van Asperen CJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands., van den Beek I; Department of Human Genetics, Amsterdam University Medical Center (University of Amsterdam), Amsterdam, the Netherlands., van Driel WJ; Department of Gynecology, Netherlands Cancer Institute, Amsterdam, the Netherlands., van Engelen K; Department of Clinical Genetics, Amsterdam University Medical Center (VUmc), Amsterdam, the Netherlands., Gómez Garcia EB; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands., de Hullu JA; Department of Obstetrics & Gynecology, Radboud University Medical Center, Nijmegen, the Netherlands., Koudijs MJ; Department of Biomedical Genetics, Utrecht University Medical Center, Utrecht, the Netherlands., Mourits MJE; Department of Gynecologic Oncology, University Medical Center Groningen, Groningen, the Netherlands., Hooning MJ; Department of Medical Oncology, Erasmus MC Cancer Institute, Rotterdam, the Netherlands., Boere IA; Department of Medical Oncology, Erasmus MC Cancer Institute, Rotterdam, the Netherlands.

المصدر: PloS one [PLoS One] 2022 Sep 22; Vol. 17 (9), pp. e0275015. Date of Electronic Publication: 2022 Sep 22 (Print Publication: 2022).

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

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: Genes, BRCA1* , Ovarian Neoplasms*/diagnosis , Ovarian Neoplasms*/drug therapy , Ovarian Neoplasms*/genetics, BRCA1 Protein/genetics ; BRCA2 Protein/genetics ; Carcinoma, Ovarian Epithelial/drug therapy ; Carcinoma, Ovarian Epithelial/genetics ; Cohort Studies ; Female ; Germ-Line Mutation ; Humans ; Progression-Free Survival