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Author/Creator Froyen, Guy

1. A novel fragile X syndrome mutation reveals a conserved role for the carboxy‐terminus in FMRP localization and function. Issue 4 (18th February 2015)

Authors:
Okray, Zeynep; de Esch, Celine EF; Van Esch, Hilde; Devriendt, Koen; Claeys, Annelies; Yan, Jiekun; Verbeeck, Jelle; Froyen, Guy; Willemsen, Rob; de Vrij, Femke MS; Hassan, Bassem A
Journal:
EMBO molecular medicine
Issue:
Volume 7:Issue 4(2015:Apr.)
Page Start:
423
Record Type:
Journal Article
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2. Deletion of the 5′exons of COL4A6 is not needed for the development of diffuse leiomyomatosis in patients with Alport syndrome. Issue 11 (19th August 2013)

Authors:
Sá, Maria João Nabais; Fieremans, Nathalie; de Brouwer, Arjan P M; Sousa, Rita; Costa, Fernando Teixeira e; Brito, Maria José; Carvalho, Fernanda; Rodrigues, Márcia; de Sousa, Francisco Teixeira; Felgueiras, Joana; Neves, Fernando; Carvalho, Adelino; Ramos, Umbelina; Vizcaíno, José Ramón; Alves, ...
Journal:
Journal of medical genetics
Issue:
Volume 50:Issue 11(2013)
Page Start:
745
Record Type:
Journal Article
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3. Early Frameshift Mutation in PIGA Identified in a Large XLID Family Without Neonatal Lethality. Issue 3 (13th January 2014)

Authors:
Belet, Stefanie; Fieremans, Nathalie; Yuan, Xuan; Van, Hilde; Verbeeck, Jelle; Ye, Zhaohui; Cheng, Linzhao; Brodsky, Brett R.; Hu, Hao; Kalscheuer, Vera M.; Brodsky, Robert A.; Froyen, Guy
Journal:
Human mutation
Issue:
Volume 35:Issue 3(2014:Mar.)
Page Start:
350
Record Type:
Journal Article
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4. Evidence for increased SOX3 dosage as a risk factor for X‐linked hypopituitarism and neural tube defects. Issue 8 (15th April 2014)

Authors:
Bauters, Marijke; Frints, Suzanna G.; Van Esch, Hilde; Spruijt, Liesbeth; Baldewijns, Marcella M.; Die‐Smulders, Christine E. M. de; Fryns, Jean‐Pierre; Marynen, Peter; Froyen, Guy
Journal:
American journal of medical genetics
Issue:
Volume 164:Issue 8(2014.)
Page Start:
1947
Record Type:
Journal Article
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5. HLA-I diversity and tumor mutational burden by comprehensive next-generation sequencing as predictive biomarkers for the treatment of non-small cell lung cancer with PD-(L)1 inhibitors. (August 2022)

Authors:
Cuppens, Kristof; Baas, Paul; Geerdens, Ellen; Cruys, Bert; Froyen, Guy; Decoster, Lynn; Thomeer, Michiel; Maes, Brigitte
Journal:
Lung cancer
Issue:
Volume 170(2022)
Page Start:
1
Record Type:
Journal Article
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6. Identification of Intellectual Disability Genes in Female Patients with a Skewed X‐Inactivation Pattern. Issue 8 (25th May 2016)

Authors:
Fieremans, Nathalie; Van Esch, Hilde; Holvoet, Maureen; Van Goethem, Gert; Devriendt, Koenraad; Rosello, Monica; Mayo, Sonia; Martinez, Francisco; Jhangiani, Shalini; Muzny, Donna M.; Gibbs, Richard A.; Lupski, James R.; Vermeesch, Joris R.; Marynen, Peter; Froyen, Guy
Journal:
Human mutation
Issue:
Volume 37:Issue 8(2016)
Page Start:
804
Record Type:
Journal Article
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7. Impaired oxidative stress response characterizes HUWE1-promoted X-linked intellectual disability. Issue 1 (December 2017)

Authors:
Bosshard, Matthias; Aprigliano, Rossana; Gattiker, Cristina; Palibrk, Vuk; Markkanen, Enni; Backe, Paul; Pellegrino, Stefania; Raymond, F.; Froyen, Guy; Altmeyer, Matthias; Bjørås, Magnar; Dianov, Grigory; van Loon, Barbara
Journal:
Scientific reports
Issue:
Volume 7:Issue 1(2017)
Page Start:
1
Record Type:
Journal Article
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8. Increased Dosage of RAB39B Affects Neuronal Development and Could Explain the Cognitive Impairment in Male Patients with Distal Xq28 Copy Number Gains. Issue 3 (13th January 2014)

Authors:
Vanmarsenille, Lieselot; Giannandrea, Maila; Fieremans, Nathalie; Verbeeck, Jelle; Belet, Stefanie; Raynaud, Martine; Vogels, Annick; Männik, Katrin; Õunap, Katrin; Jacqueline, Vigneron; Briault, Sylvain; Van, Hilde; D'Adamo, Patrizia; Froyen, Guy
Journal:
Human mutation
Issue:
Volume 35:Issue 3(2014:Mar.)
Page Start:
377
Record Type:
Journal Article
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