Ghent University Academic Bibliography

MYT1L-associated neurodevelopmental disorder : description of 40 new cases and literature review of clinical and molecular aspects

Juliette Coursimault, Anne-Marie Guerrot, Michelle M. Morrow, Catherine Schramm, Francisca Millan Zamora, Anita Shanmugham, Shuxi Liu, Fanggeng Zou, Frederic Bilan, Gwenael Le Guyader, et al.

(2022) HUMAN GENETICS. 141(1). p.65-80

Add to list

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.

Add to list

Book Chapter
open access

LTBP4-related cutis laxa

Bert Callewaert (UGent) and Zsolt Urban

(2022) Gene reviews.

Add to list

Journal Article
open access

Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases

Nancy Vegas, Zeynep Demir, Christopher T. Gordon, Sylvain Breton, Vanessa L. Romanelli Tavares, Hugo Moisset, Roseli Zechi‐Ceide, Nancy M. Kokitsu‐Nakata, Yasuhiro Kido, Sandrine Marlin, et al.

(2022) Human Mutation.

Add to list

Journal Article
A1
open access

Expanding the phenotype of B3GALNT2-related disorders

Erika D'haenens (UGent) , Sarah Vergult (UGent) , Björn Menten (UGent) , Annelies Dheedene (UGent) , R. Frank Kooy and Bert Callewaert (UGent)

(2022) GENES. 13(4).

Add to list

Clinical characteristics of Galloway-Mowat syndrome and mutations in the TPRKB gene

Lieselot Peremans (UGent) , Bert Callewaert (UGent) , Ann Raes (UGent) , Johan Vande Walle (UGent) , Jo Dehoorne (UGent) , Lien Dossche (UGent) , Evelien Snauwaert (UGent) and agnieszka Prytula

(2021) Belgian Journal of Paediatrics. In Belgian Journal of Paediatrics 23(supplement 1).

Add to list

Two cases of DCDC2‐related neonatal sclerosing cholangitis with developmental delay and literature review

Hannes Syryn (UGent) , Anne Hoorens (UGent) , Tassos Grammatikopoulos, Maesha Deheragoda, Sofie Symoens (UGent) , Saskia Vande Velde (UGent) , Stephanie Van Biervliet (UGent) , Myriam Van Winckel (UGent) , Patrick Verloo (UGent) , Bert Callewaert (UGent) , et al.

(2021) CLINICAL GENETICS. 100(4). p.447-452

Add to list

Arterial tortuosity syndrome : an ascorbate compartmentalization disorder?

Annekatrien Boel (UGent) , Krisztina Veszelyi, Csilla E. Nemeth, Aude Beyens (UGent) , Andy Willaert (UGent) , Paul Coucke (UGent) , Bert Callewaert (UGent) and Eva Margittai

(2021) ANTIOXIDANTS & REDOX SIGNALING. 34(11). p.875-889

Add to list

Severe congenital cutis laxa : Identification of novel homozygous LOX gene variants in two families

Fiona McKenzie, Kym Mina, Bert Callewaert (UGent) , Aude Beyens (UGent) , Jan E. Dickinson, Gareth Jevon, John Papadimitriou, Birgitte Rode Diness, Jesper Norman Steensberg, Jakob Ek, et al.

(2021) CLINICAL GENETICS. 100(2). p.168-175

Add to list

Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome

Dong Li, Michael E. March, Paola Fortugno, Liza L. Cox, Leticia S. Matsuoka, Rosanna Monetta, Christoph Seiler, Louise C. Pyle, Emma C. Bedoukian, María José Sánchez-Soler, et al.

(2021) HUMAN GENETICS. 140. p.1061-1076

Academic Bibliography

MYT1L-associated neurodevelopmental disorder : description of 40 new cases and literature review of clinical and molecular aspects

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

LTBP4-related cutis laxa

Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases

Expanding the phenotype of B3GALNT2-related disorders

Clinical characteristics of Galloway-Mowat syndrome and mutations in the TPRKB gene

Two cases of DCDC2‐related neonatal sclerosing cholangitis with developmental delay and literature review

Arterial tortuosity syndrome : an ascorbate compartmentalization disorder?

Severe congenital cutis laxa : Identification of novel homozygous LOX gene variants in two families

Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome

Contents

Support

Contact