Ghent University Academic Bibliography

Book Chapter

The Ehlers-Danlos syndromes

Marlies Colman (UGent) , Anne De Paepe (UGent) and Fransiska Malfait (UGent)

(2023) A clinician's pearls and myths in rheumatology. p.655-666

Journal Article
A1
open access

SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile

Reem Al-Jawahiri, Aidin Foroutan, Jennifer Kerkhof, Haley McConkey, Michael Levy, Sadegheh Haghshenas, Kathleen Rooney, Jasmin Turner, Debbie Shears, Muriel Holder, et al.

(2022) GENETICS IN MEDICINE. 24(6). p.1261-1273

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Phenotypic and molecular heterogeneity in mandibulofacial dysostoses : a case series from India

Rathika D. Shenoy, Vikram Shetty, Annelies Dheedene (UGent) , Björn Menten (UGent) , Dechamma Pandyanda Nanjappa, Gunimala Chakraborty, Patrick Sips (UGent) , Anne De Paepe (UGent) , Bert Callewaert (UGent) and Anirban Chakraborty

(2022) CLEFT PALATE-CRANIOFACIAL JOURNAL. 59(11). p.1346-1351

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Miscellaneous

Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa (vol 100, pg 216, 2017)

Tim Van Damme (UGent) , Thatjana Gardeitchik, Miski Mohamed, Sergio Guerrero-Castillo, Peter Freisinger, Brecht Guillemyn (UGent) , Ariana Kariminejad, Daisy Dalloyaux, Sanne van Kraaij, Dirk J. Lefeber, et al.

(2020) AMERICAN JOURNAL OF HUMAN GENETICS. 107(2). p.374-374

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A clinical scoring system for congenital contractural arachnodactyly

Ilse Meerschaut, Shana De Coninck, Wouter Steyaert (UGent) , Angela Barnicoat, Allan Bayat, Francesco Benedicenti, Siren Berland, Edward M. Blair, Jeroen Breckpot, Anna de Burca, et al.

(2020) GENETICS IN MEDICINE. 22(1). p.124-131

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VEGFA variants as prognostic markers for the retinopathy in pseudoxanthoma elasticum

Eva De Vilder, Mohammad Jakir Hosen (UGent) , Ludovic Martin, Julie De Zaeytijd (UGent) , Bart Leroy (UGent) , Jean-Marc Ebran, Paul Coucke (UGent) , Anne De Paepe (UGent) and Olivier Vanakker (UGent)

(2020) CLINICAL GENETICS. 98(1). p.74-79

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Book Chapter

De arts van morgen moet vertrouwd zijn met de basisbegrippen van de genetica

Anne De Paepe (UGent)

(2019) Brieven aan jonge artsen. p.24-25

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Journal Article
A2
open access

Creatine transporter defect masquerading as Lujan Syndrome

Julie R Jones, Tim Wood, Anne De Paepe (UGent) , Jules G. Leroy and Roger E Stevenson

(2019) ANNALS OF PEDIATRIC RESEARCH. 3(2).

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Bi-allelic AEBP1 mutations in two patients with Ehlers-Danlos syndrome

Delfien Syx (UGent) , Inge De Wandele (UGent) , Sofie Symoens (UGent) , Riet De Rycke (UGent) , Olivier Hougrand, Nicol Voermans, Anne De Paepe (UGent) and Fransiska Malfait (UGent)

(2019) HUMAN MOLECULAR GENETICS. 28(11). p.1853-1864

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Health-related quality of life in children and young adults with Marfan syndrome

Jill C Handisides, Danielle Hollenbeck-Pringle, Karen Uzark, Felicia L Trachtenberg, Victoria L Pemberton, Teresa W Atz, Timothy J Bradley, Elizabeth Cappella, Sylvia De Nobele (UGent) , Georgeann Keh-Teng Groh, et al.

(2019) JOURNAL OF PEDIATRICS. 204. p.250-255

Academic Bibliography

The Ehlers-Danlos syndromes

SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile

Phenotypic and molecular heterogeneity in mandibulofacial dysostoses : a case series from India

Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa (vol 100, pg 216, 2017)

A clinical scoring system for congenital contractural arachnodactyly

VEGFA variants as prognostic markers for the retinopathy in pseudoxanthoma elasticum

De arts van morgen moet vertrouwd zijn met de basisbegrippen van de genetica

Creatine transporter defect masquerading as Lujan Syndrome

Bi-allelic AEBP1 mutations in two patients with Ehlers-Danlos syndrome

Health-related quality of life in children and young adults with Marfan syndrome

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