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Lethal/Severe Osteogenesis Imperfecta in a Large Family: A Novel Homozygous Mutation and Bone Histological Findings.
Published in:
Pediatric & Developmental Pathology, 2011, v. 14, n. 3, p. 228, doi. 10.2350/10-03-0806-CR.1
By:
- VAN DIJK, FLEUR S.;
- NIKKELS, PETER G. J.;
- DEN HOLLANDER, NICOLETTE S.;
- NESBITT, ISABEL M.;
- VAN RIJN, RICK R.;
- COBBEN, JAN M.;
- PALS, GERARD
Publication type:
Article
Oral characteristics in adult individuals with periodontal Ehlers‐Danlos syndrome.
Published in:
Journal of Clinical Periodontology, 2022, v. 49, n. 12, p. 1244, doi. 10.1111/jcpe.13698
By:
- Lepperdinger, Ulrike;
- Angwin, Chloe;
- Milnes, Di;
- Sobey, Glenda;
- Ghali, Neeti;
- Johnson, Diana;
- Brady, Angela F.;
- Kammin, Tammy;
- Bowen, Jessica M.;
- Gröbner, Rebekka;
- Lundberg, Pernilla;
- Scott, James;
- Zschocke, Johannes;
- van Dijk, Fleur S.;
- Kapferer‐Seebacher, Ines
Publication type:
Article
Familial hepatic rupture in vascular Ehlers–Danlos syndrome in pregnancy with atypical thromboses.
Published in:
JRSM Open, 2023, v. 14, n. 12, p. 1, doi. 10.1177/20542704231215970
By:
- Patel, Jesal;
- Neville, Cai;
- Kumar, Raj;
- Grey-Davies, Elisabeth;
- Hutt, Renata;
- van Dijk, Fleur S.;
- Chan, Li Yuan;
- Walter, Edward
Publication type:
Article
Atrophoderma Vermiculatum: A Cutaneous Feature of Loeys-Dietz Syndrome.
Published in:
JAMA Dermatology, 2015, v. 151, n. 6, p. 675, doi. 10.1001/jamadermatol.2014.4900
By:
- van Dijk, Fleur S.;
- Brittain, Helen;
- Boerma, Ragna;
- Robert, Marie L.;
- Cobben, Jan M.
Publication type:
Article
Radiotherapy Late Effects and Osteogenesis Imperfecta: Dos and Don'ts in Clinical Practice.
Published in:
Case Reports in Oncology, 2019, v. 12, n. 1, p. 322, doi. 10.1159/000499903
By:
- Lodeweges, Joyce E.;
- van Dijk, Fleur S.;
- Verhoeff, Joost J.C.
Publication type:
Article
Letter to the editor: Re: Pathogenic mechanisms of osteogenesis imperfecta, evidence for classification.
Published in:
2024
By:
- Dalgleish, Raymond;
- Micha, Dimitra;
- Superti-Furga, Andrea;
- van Dijk, Fleur S.;
- Sillence, David O.
Publication type:
Letter
Clinical utility gene card for: osteogenesis imperfecta.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 6, p. 1, doi. 10.1038/ejhg.2012.210
By:
- van Dijk, Fleur S;
- Dalgleish, Raymond;
- Malfait, Fransiska;
- Maugeri, Alessandra;
- Rusinska, Agnieszka;
- Semler, Oliver;
- Symoens, Sofie;
- Pals, Gerard
Publication type:
Article
EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 1, p. 11, doi. 10.1038/ejhg.2011.141
By:
- van Dijk, Fleur S;
- Byers, Peter H;
- Dalgleish, Raymond;
- Malfait, Fransiska;
- Maugeri, Alessandra;
- Rohrbach, Marianne;
- Symoens, Sofie;
- Sistermans, Erik A;
- Pals, Gerard
Publication type:
Article
CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis.
Published in:
2009
By:
- Van Dijk, Fleur S.;
- Nesbitt, Isabel M.;
- Nikkels, Peter G. J.;
- Dalton, Ann;
- Bongers, Ernie M. H. F.;
- van de Kamp, Jiddeke M.;
- Hilhorst-Hofstee, Yvonne;
- Den Hollander, Nicolette S.;
- Lachmeijer, Augusta M. A.;
- Marcelis, Carlo L.;
- Tan-Sindhunata, Gita M. B.;
- van Rijn, Rick R.;
- Meijers-Heijboer, Hanne;
- Cobben, Jan M.;
- Pals, Gerard
Publication type:
Correction notice
CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis.
Published in:
European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1560, doi. 10.1038/ejhg.2009.75
By:
- Van Dijk, Fleur S.;
- Nesbitt, Isabel M.;
- Nikkels, Peter G. J.;
- Dalton, Ann;
- Bongers, Ernie M. H. F.;
- van de Kamp, Jiddeke M.;
- Hilhorst-Hofstee, Yvonne;
- Den Hollander, Nicolette S.;
- Lachmeijer, Augusta M. A.;
- Marcelis, Carlo L.;
- Tan-Sindhunata, Gita M. B.;
- van Rijn, Rick R.;
- Meijers-Heijboer, Hanne;
- Cobben, Jan M.;
- Pals, Gerard
Publication type:
Article
Absence of Collagen Flowers on Electron Microscopy and Identification of (Likely) Pathogenic COL5A1 Variants in Two Patients.
Published in:
Genes, 2019, v. 10, n. 10, p. 762, doi. 10.3390/genes10100762
By:
- Angwin, Chloe;
- Brady, Angela F.;
- Colombi, Marina;
- Ferguson, David J. P.;
- Pollitt, Rebecca;
- Pope, F. Michael;
- Ritelli, Marco;
- Symoens, Sofie;
- Ghali, Neeti;
- van Dijk, Fleur S.
Publication type:
Article
Genetic testing in patients with unexplained coronary aneurysms or dilation.
Published in:
2024
By:
- Adlam, David;
- Dijk, Fleur S van;
- Loeys, Bart
Publication type:
Case Study
Erratum to: Osteogenesis imperfecta: Clinical diagnosis, nomenclature, and severity assessment.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 1178, doi. 10.1002/ajmg.a.36784
By:
- van Dijk, Fleur S;
- Sillence, David O
Publication type:
Article
Facilitating genetic testing after death: the ongoing duty of care to the deceased and their relatives.
Published in:
Journal of the Royal Society of Medicine, 2023, v. 116, n. 6, p. 193, doi. 10.1177/01410768231182836
By:
- Dennis, Catherine;
- Van Dijk, Fleur S;
- Lucassen, Anneke
Publication type:
Article
Fatigue in adults with Osteogenesis Imperfecta.
Published in:
2020
By:
- Harsevoort, Arjan G. J.;
- Gooijer, Koert;
- van Dijk, Fleur S.;
- van der Grijn, Daniëlle A. F. M.;
- Franken, Anton A. M.;
- Dommisse, Anne Marieke V.;
- Janus, Guus J. M.
Publication type:
journal article

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