Ghent University Academic Bibliography

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Your filters: cql: author="Fryns, Jean-Pierre*" or (type exact bookEditor and editor="Fryns, Jean-Pierre*")

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Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD

Marjolijn Renard (UGent) , Bert Callewaert (UGent) , Machteld Baetens (UGent) , Laurence Campens (UGent) , Kay MacDermot, Jean-Pierre Fryns, Marise Bonduelle, Harry C Dietz, Isabel Mendes Gaspar, Diogo Cavaco, et al.

(2013) INTERNATIONAL JOURNAL OF CARDIOLOGY. 165(2). p.314-321
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Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis-1 like phenotype

Hilde Brems, M Chmara, M Sahbatou, Ellen Denayer, K Taniguchi, R Kato, Riet Somers, Ludwine Messiaen, Sofie De Schepper (UGent) , Jean-Pierre Fryns, et al.

(2007) Nature Genetics. 39(9). p.1120-1126
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Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in Blepharophimosis syndrome

DIANE BEYSEN (UGent) , Jeroen Raes (UGent) , Bart Leroy (UGent) , A Lucassen, JRW Yates, J Clayton-Smith, H Ilyina, SS Brooks, S Christin-Maitre, Marc Fellous, et al.

(2005) AMERICAN JOURNAL OF HUMAN GENETICS. 77(2). p.205-218
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FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation

Elfride De Baere (UGent) , DIANE BEYSEN (UGent) , Christine Oley, Birgit Lorenz, Julie Cocquet, Petra De Sutter (UGent) , Koen Devriendt, Michael Dixon, Marc Fellous, Jean-Pierre Fryns, et al.

(2003) AMERICAN JOURNAL OF HUMAN GENETICS. 72(2). p.478-487
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- Journal Article
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The East Flanders Prospective Twin Survey (EFPTS)

Catherine Derom, Robert Vlietinck, Evert Thiery, Fernand Leroy, Jean-Pierre Fryns and Robert Derom (UGent)

(2002) TWIN RESEARCH. 5(5). p.337-341

Academic Bibliography

Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD

Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis-1 like phenotype

Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in Blepharophimosis syndrome

FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation

The East Flanders Prospective Twin Survey (EFPTS)

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