Ghent University Academic Bibliography

Your filters: cql: author="Legius, Eric" or (type any "bookEditor issueEditor" and editor="Legius, Eric")

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- Miscellaneous
In memory of Ludwine Messiaen, Ph.D. (1956-2024)

Elfride De Baere (UGent) , Eric Legius, Reiner A. Veitia and Kathleen Claes (UGent)

(2024) CLINICAL GENETICS.
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- Conference Paper
- C3
Mutations in the ubiquitin ligase adaptor LZTR1 drive human disease by dysregulating RAS ubiquitination and signaling.

Mikhail Steklov, Silvia Pandolfi, Maria Francesca Baietti, Paolo Carai, Mingzhen Zhang, Hyunbum Jang, Yanyan Cai, Eric Legius, Jan Tavernier (UGent) , Kris Gevaert (UGent) , et al.

(2020) MOLECULAR CANCER RESEARCH. 18(5). p.39-39
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- Journal Article
- A1
- open access
Cancer surveillance in healthy carriers of germline pathogenic variants in BRCA1/2 : a review of secondary prevention guidelines

Boudewijn Dullens, Robin de Putter (UGent) , Matteo Lambertini, Angela Toss, Sileny Han, Els Van Nieuwenhuysen, Toon Van Gorp, Adriaan Vanderstichele, Chantal Van Ongeval, Machteld Keupers, et al.

(2020) JOURNAL OF ONCOLOGY. 2020.
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- Journal Article
- A1
- open access
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423 : genotype-phenotype study in neurofibromatosis type 1

Magdalena Koczkowska, Tom Callens, Yunjia Chen, Alicia Gomes, Alesha D. Hicks, Angela Sharp, Eric Johns, Kim Armfield Uhas, Linlea Armstrong, Katherine Armstrong Bosanko, et al.

(2020) HUMAN MUTATION. 41(1). p.299-315
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- Journal Article
- A1
- open access
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del) : an update of genotype-phenotype correlation

Magdalena Koczkowska, Tom Callens, Alicia Gomes, Angela Sharp, Yunjia Chen, Alesha D Hicks, Arthur S Aylsworth, Amedeo A Azizi, Donald G Basel, Gary Bellus, et al.

(2019) GENETICS IN MEDICINE. 21(4). p.867-876
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- Miscellaneous
Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

Magdalena Koczkowska, Tom Callens, Alicia Gomes, Angela Sharp, Yunjia Chen, Alesha D. Hicks, Arthur S. Aylsworth, Amedeo A. Azizi, Donald G. Basel, Gary Bellus, et al.

(2019) GENETICS IN MEDICINE. 21(3). p.764-765
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- Journal Article
- A1
- open access
Genotype-phenotype correlation in NF1 : evidence for a more severe phenotype associated with missense mutations affecting NF1 codons 844–848

Magdalena Koczkowska, Yunjia Chen, Tom Callens, Alicia Gomes, Angela Sharp, Sherrell Johnson, Meng-Chang Hsiao, Zhenbin Chen, Meena Balasubramanian, Christopher P Barnett, et al.

(2018) AMERICAN JOURNAL OF HUMAN GENETICS. 102(1). p.69-87
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- Miscellaneous
- open access
Oncogenetic testing, diagnosis and follow-up in Birt-Hogg-Dubé syndrome, familial atypical multiple mole melanoma syndrome and neurofibromatosis 1 and 2

Jo Robays, Sabine Stordeur, Frank Hulstaert, Jean-François Baurain, Lieve Brochez (UGent) , Teofila Caplanusi, Kathleen Claes (UGent) , Eric Legius, Sylvie Rottey (UGent) , Dirk Schrijvers, et al.

(2015) KCE Report. 243.
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- Journal Article
- A1
- open access
High incidence of Noonan syndrome features including short stature and pulmonic stenosis in patients carrying NF1 missense mutations affecting p.Arg1809: genotype-phenotype correlation

Kitiwan Rojnueangnit, Jing Xie, Alicia Gomes, Angela Sharp, Tom Callens, Yunjia Chen, Ying Liu, Meagan Cochran, Mary-Alice Abbott, Joan Atkin, et al.

(2015) HUMAN MUTATION. 36(11). p.1052-1063
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Deficient motor timing in children with neurofibromatosis type 1

Julie Debrabant (UGent) , Ellen Plasschaert, Karen Caeyenberghs (UGent) , Guy Vingerhoets (UGent) , Eric Legius, Sandra Janssens (UGent) and Hilde Van Waelvelde (UGent)

(2014) RESEARCH IN DEVELOPMENTAL DISABILITIES. 35(11). p.3131-3138

Academic Bibliography

In memory of Ludwine Messiaen, Ph.D. (1956-2024)

Mutations in the ubiquitin ligase adaptor LZTR1 drive human disease by dysregulating RAS ubiquitination and signaling.

Cancer surveillance in healthy carriers of germline pathogenic variants in BRCA1/2 : a review of secondary prevention guidelines

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423 : genotype-phenotype study in neurofibromatosis type 1

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del) : an update of genotype-phenotype correlation

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

Genotype-phenotype correlation in NF1 : evidence for a more severe phenotype associated with missense mutations affecting NF1 codons 844–848

Oncogenetic testing, diagnosis and follow-up in Birt-Hogg-Dubé syndrome, familial atypical multiple mole melanoma syndrome and neurofibromatosis 1 and 2

High incidence of Noonan syndrome features including short stature and pulmonic stenosis in patients carrying NF1 missense mutations affecting p.Arg1809: genotype-phenotype correlation

Deficient motor timing in children with neurofibromatosis type 1

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