van Dijk, Fleur S. : rechercher sur Z-Library

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1

Fatigue in adults with Osteogenesis Imperfecta

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.

Journal:

BMC Musculoskeletal Disorders

Année:

2020

Fichier:

PDF, 594 KB

2020

2

Arterial complications in classical Ehlers-Danlos syndrome: a case series

Angwin, Chloe, Brady, Angela F, Pope, F Michael, Vandersteen, Anthony, Baker, Duncan, Cheema, Harveer, Sobey, Glenda, Johnson, Diana, von Klemperer, Kate, Kazkaz, Hanadi, van Dijk, Fleur, Ghali, Neeti

Journal:

Journal of Medical Genetics

Année:

2020

Fichier:

PDF, 812 KB

2020

3

Absence of Collagen Flowers on Electron Microscopy and Identification of (Likely) Pathogenic COL5A1 Variants in Two Patients

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.

Journal:

Année:

2019

Langue:

english

Fichier:

PDF, 1.34 MB

english, 2019

4

Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients

Julie C. Sapp, Joyce T. Turner, Jiddeke M. van de Kamp, Fleur S. van Dijk, R. Brian Lowry, Leslie G. Biesecker

Journal:

American Journal of Medical Genetics Part A

Année:

2007

Langue:

english

Fichier:

PDF, 740 KB

english, 2007

5

A systematic comparison of all mutations in hereditary sensory neuropathy type I (HSAN I) reveals that the G387A mutation is not disease associated

Thorsten Hornemann, Anke Penno, Stephane Richard, Garth Nicholson, Fleur S. van Dijk, Annelies Rotthier, Vincent Timmerman, Arnold von Eckardstein

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 238 KB

english, 2009

6

CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis

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, Marc

Journal:

European Journal of Human Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 60 KB

english, 2009

7

CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis

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, Marc

Journal:

European Journal of Human Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 419 KB

english, 2009

8

PPIB Mutations Cause Severe Osteogenesis Imperfecta

Fleur S. van Dijk, Isabel M. Nesbitt, Eline H. Zwikstra, Peter G.J. Nikkels, Sander R. Piersma, Silvina A. Fratantoni, Connie R. Jimenez, Margriet Huizer, Alice C. Morsman, Jan M. Cobben, Mirjam H.H.

Journal:

The American Journal of Human Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 1.07 MB

english, 2009

9

Pectus excavatum and carinatum

Cobben, Jan M., Oostra, Roelof-Jan, van Dijk, Fleur S.

Journal:

European Journal of Medical Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 919 KB

english, 2014

10

PLS3 Mutations in X-Linked Osteoporosis with Fractures

van Dijk, Fleur S., Zillikens, M. Carola, Micha, Dimitra, Riessland, Markus, Marcelis, Carlo L.M., de Die-Smulders, Christine E., Milbradt, Janine, Franken, Anton A., Harsevoort, Arjan J., Lichtenbelt

Journal:

New England Journal of Medicine

Année:

2013

Langue:

english

Fichier:

PDF, 610 KB

english, 2013

11

EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta

van Dijk, Fleur S, Byers, Peter H, Dalgleish, Raymond, Malfait, Fransiska, Maugeri, Alessandra, Rohrbach, Marianne, Symoens, Sofie, Sistermans, Erik A, Pals, Gerard

Journal:

European Journal of Human Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 495 KB

english, 2012

12

Lethal/Severe Osteogenesis Imperfecta in a Large Family: A Novel Homozygous LEPRE1 Mutation and Bone Histological Findings

van Dijk, Fleur S., Nikkels, Peter G. J., den Hollander, Nicolette S., Nesbitt, Isabel M., van Rijn, Rick R., Cobben, Jan M., Pals, Gerard

Journal:

Pediatric and Developmental Pathology

Année:

2011

Langue:

english

Fichier:

PDF, 2.04 MB

english, 2011

13

Atrophoderma Vermiculatum

van Dijk, Fleur S., Brittain, Helen, Boerma, Ragna, Robert, Marie L., Cobben, Jan M.

Journal:

JAMA Dermatology

Année:

2015

Langue:

english

Fichier:

PDF, 131 KB

english, 2015

14

Clinical utility gene card for: osteogenesis imperfecta

van Dijk, Fleur S, Dalgleish, Raymond, Malfait, Fransiska, Maugeri, Alessandra, Rusinska, Agnieszka, Semler, Oliver, Symoens, Sofie, Pals, Gerard

Journal:

European Journal of Human Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 195 KB

english, 2013

15

Effect of open-label infusion of an apoA-I-containing particle (CER-001) on RCT and artery wall thickness in patients with FHA

Kootte, Ruud S., Smits, Loek P., van der Valk, Fleur M., Dasseux, Jean-Louis, Keyserling, Constance H., Barbaras, Ronald, Paolini, John F., Santos, Raul D., van Dijk, Theo H., Dallinga-van Thie, Geesj

Journal:

The Journal of Lipid Research

Année:

2015

Langue:

english

Fichier:

PDF, 800 KB

english, 2015

16

Complete COL1A1 allele deletions in osteogenesis imperfecta

van Dijk, Fleur S, Huizer, Margriet, Kariminejad, Ariana, Marcelis, Carlo L, Plomp, Astrid S, Terhal, Paulien A, Meijers-Heijboer, Hanne, Weiss, Marjan M, van Rijn, Rick R, Cobben, Jan M, Pals, Gerard

Journal:

Genetics in Medicine

Année:

2010

Langue:

english

Fichier:

PDF, 660 KB

english, 2010

17

Erratum to: Osteogenesis imperfecta: Clinical diagnosis, nomenclature, and severity assessment

van Dijk, Fleur S, Sillence, David O

Journal:

American Journal of Medical Genetics Part A

Année:

2015

Langue:

english

Fichier:

PDF, 112 KB

english, 2015

18

Scheduling Anesthesia Time Reduces Case Cancellations and Improves Operating Room Workflow in a University Hospital Setting

van Veen-Berkx, Elizabeth, van Dijk, Menno V., Cornelisse, Diederich C., Kazemier, Geert, Mokken, Fleur C.

Journal:

Journal of the American College of Surgeons

Année:

2016

Langue:

english

Fichier:

PDF, 1.14 MB

english, 2016

19

Taking Up the Challenge of Measuring Prolonged Pain in (Premature) Neonates

van Dijk, Monique, Roofthooft, Daniella W. E., Anand, Kanwaljeet J. S., Guldemond, Fleur, de Graaf, Joke, Simons, Sinno, de Jager, Youette, van Goudoever, Johannes B., Tibboel, Dick

Journal:

Clinical Journal of Pain

Année:

2009

Langue:

english

Fichier:

PDF, 279 KB

english, 2009

20

Ehlers Danlos syndrome, kyphoscoliotic type due to Lysyl Hydroxylase 1 deficiency in two children without congenital or early onset kyphoscoliosis

van Dijk, Fleur S., Mancini, Grazia M.S., Maugeri, Alessandra, Cobben, Jan M.

Journal:

European Journal of Medical Genetics

Année:

2017

Langue:

english

Fichier:

PDF, 1.39 MB

english, 2017

21

Deep Brain Stimulation for Essential Tremor: Aligning Thalamic and Posterior Subthalamic Targets in 1 Surgical Trajectory

Bot, Maarten, van Rootselaar, Fleur, Contarino, Maria Fiorella, Odekerken, Vincent, Dijk, Joke, de Bie, Rob, Schuurman, Richard, van den Munckhof, Pepijn

Journal:

Operative Neurosurgery

Année:

2017

Langue:

english

Fichier:

PDF, 612 KB

english, 2017

22

Adults with osteogenesis imperfecta: Clinical characteristics of 151 patients with a focus on bisphosphonate use and bone density measurements

Scheres, Luuk J.J., van Dijk, Fleur S., Harsevoort, Arjan J., van Dijk, Atty T.H., Dommisse, Anne Marieke, Janus, Guus J.M., Franken, Anton A.M.

Journal:

Année:

2018

Langue:

english

Fichier:

PDF, 198 KB

english, 2018

23

Dupilumab facial redness: Positive effect of itraconazole

de Beer, Fleur S.A., Bakker, Daphne S., Haeck, Inge, Ariens, Lieneke, van der Schaft, Jorien, van Dijk, Marijke R., de Bruin-Weller, Marjolein S.

Journal:

JAAD Case Reports

Année:

2019

Langue:

english

Fichier:

PDF, 867 KB

english, 2019

24

A neuromuscular disorder with homozygosity for PIEZO2 gene variants

Oakley-Hannibal, Elizabeth, Ghali, Neeti, Pope, Francis Michael, De Franco, Elisa, Ellard, Sian, van Dijk, Fleur S., Brady, Angela F.

Journal:

Clinical Dysmorphology

Année:

2020

Fichier:

PDF, 147 KB

2020

25

Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2

van Dijk, Fleur S., Semler, Oliver, Etich, Julia, KÃ¶hler, Anna, Jimenez-Estrada, Juan A., Bravenboer, Nathalie, Claeys, Lauria, Riesebos, Elise, Gegic, Sejla, Piersma, Sander R., Jimenez, Connie R.,

Journal:

The American Journal of Human Genetics

Année:

2020

Fichier:

PDF, 2.73 MB

2020

26

Prospective clinical investigations of children with periodontal EhlersâDanlos syndrome identify generalized lack of attached gingiva as a pathognomonic feature

Kapferer-Seebacher, Ines, Oakley-Hannibal, Elizabeth, Lepperdinger, Ulrike, Johnson, Diana, Ghali, Neeti, Brady, Angela F., Sobey, Glenda, Zschocke, Johannes, van Dijk, Fleur S.

Journal:

Genetics in Medicine

Année:

2020

Fichier:

PDF, 883 KB

2020

27

Associations between Lifestyle Factors and Vitamin E Metabolites in the General Population

Martens, Leon G., Luo, Jiao, Meulmeester, Fleur L., Ashrafi, Nadia, van Eekelen, Esther Winters, de Mutsert, RenÃ©e, Mook-Kanamori, Dennis O., Rosendaal, Frits R., van Dijk, Ko Willems, Mills, Kevin,

Journal:

Année:

2020

Fichier:

PDF, 540 KB

2020