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Bredrup, Cecilie
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1

IC3D Classification of Corneal Dystrophies—Edition 3:

Weiss, Jayne S. ; Rapuano, Christopher J. ; Seitz, Berthold...
Cornea.  43 (2024)  4 - p. 466-527 , 2024
Link: https://doi.org/10.1097/..
 
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2

Elevated cholesterol in ATAD3 mutants is a compensatory mec..:

Muñoz-Oreja, Mikel ; Sandoval, Abigail ; Bruland, Ove...
Brain.  147 (2024)  5 - p. 1899-1913 , 2024
Link: https://doi.org/10.1093/..
 
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3

Diagnosis and management in Rubinstein-Taybi syndrome: firs..:

Lacombe, Didier ; Bloch-Zupan, Agnès ; Bredrup, Cecilie...
Journal of Medical Genetics.  61 (2024)  6 - p. 503-519 , 2024
Link: https://doi.org/10.1136/..
 
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4

Corneal Vascularization Associated With a Novel PDGFRB Vari..:

Gladkauskas, Titas ; Bruland, Ove ; Abu Safieh, Leen...
Investigative Opthalmology & Visual Science.  64 (2023)  14 - p. 9 , 2023
Link: https://doi.org/10.1167/..
 
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5

Functional characterization of all‐trans retinoic acid‐indu..:

Mehrasa, Roya ; Cristea, Ileana ; Bredrup, Cecilie..
FEBS Open Bio.  13 (2023)  10 - p. 1874-1886 , 2023
Link: https://doi.org/10.1002/..
 
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6

A Pellino‐2 variant is associated with constitutive NLRP3 i..:

Cristea, Ileana ; Abarca, Hugo ; Christensen Mellgren, Anne E....
FEBS Letters.  597 (2023)  9 - p. 1290-1299 , 2023
Link: https://doi.org/10.1002/..
 
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7

Corneal neovascularization associated with a novel PDGFRB g..:

Gladkauskas, Titas ; Bruland, Ove ; Safieh, Leen...
Acta Ophthalmologica.  100 (2022)  S275 - p. , 2022
Link: https://doi.org/10.1111/..
 
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8

Temperature-dependent autoactivation associated with clinic..:

Bredrup, Cecilie ; Cristea, Ileana ; Safieh, Leen Abu...
Human Molecular Genetics.  30 (2021)  1 - p. 72-77 , 2021
Link: https://doi.org/10.1093/..
 
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9

Pellino‐2 in nonimmune cells: novel interaction partners an..:

Cristea, Ileana ; Bruland, Ove ; Aukrust, Ingvild..
FEBS Letters.  595 (2021)  23 - p. 2909-2921 , 2021
Link: https://doi.org/10.1002/..
 
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10

K+ regulates relocation of Pellino‐2 to the site of NLRP3 i..:

Cristea, Ileana ; Bruland, Ove ; Rødahl, Eyvind.
FEBS Letters.  595 (2021)  19 - p. 2437-2446 , 2021
Link: https://doi.org/10.1002/..
 
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11

Positive response to imatinib in PDGFRB‐related Kosaki over..:

Rustad, Cecilie F. ; Tveten, Kristian ; Prescott, Trine E....
American Journal of Medical Genetics Part A.  185 (2021)  8 - p. 2597-2601 , 2021
Link: https://doi.org/10.1002/..
 
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12

Clinical and molecular response to dasatinib in an adult pa..:

Iznardo, Helena ; Bredrup, Cecilie ; Bernal, Sara...
American Journal of Medical Genetics Part A.  188 (2021)  4 - p. 1233-1238 , 2021
Link: https://doi.org/10.1002/..
 
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13

Clinical features and molecular genetics of patients with A..:

Holtan, Josephine Prener ; Aukrust, Ingvild ; Jansson, Ragnhild Wivestad...
Acta Ophthalmologica.  99 (2020)  5 - p. , 2020
Link: https://doi.org/10.1111/..
 
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14

Activating mutations in discoidin domain receptor 2 cause W..:

Zi Yan Xu, Linda ; Jensen, Hanne ; Johnston, Jennifer J....
Acta Ophthalmologica.  97 (2019)  S263 - p. , 2019
Link: https://doi.org/10.1111/..
 
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15

A tyrosine kinase-activating variant Asn666Ser in PDGFRB ca..:

Bredrup, Cecilie ; Stokowy, Tomasz ; McGaughran, Julie...
European Journal of Human Genetics.  27 (2018)  4 - p. 574-581 , 2018
Link: https://doi.org/10.1038/..
 
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