Ghent University Academic Bibliography

Mark

Chronic fatigue in Ehlers-Danlos syndrome-hypermobile type

Alan Hakim, Inge De Wandele (UGent) , Chris O'Callaghan, Alan Pocinki and Peter Rowe

(2017) AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS. 175(1). p.175-180

Mark

journalArticle

Recurrent promoter mutations in melanoma are defined by an extended context-specific mutational signature

Nils Johan Fredriksson, Kerryn Elliott, Stefan Filges, Jimmy Van den Eynden, Anders Ståhlberg and Erik Larsson

(2017) PLOS Genetics. 13(5).

Mark

CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients

Anja K Mayer, Caroline Van Cauwenbergh (UGent) , Christine Rother, Britta Baumann, Peggy Reuter, Elfride De Baere (UGent) , Bernd Wissinger and Susanne Kohl

(2017) HUMAN MUTATION. 38(11). p.1579-1591

Mark

The 2017 International Classification of the Ehlers-Danlos Syndromes

Fransiska Malfait (UGent) , Clair Francomano, Peter Byers, John Belmont, Britta Berglund, James Black, Lara Bloom, Jessica M Bowen, Angela F Brady, Nigel P Burrows, et al.

(2017) AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS. 175(1). p.8-26

Mark

journalArticle
A1
open access

arrEYE : a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs

Caroline Van Cauwenbergh (UGent) , Kristof Van Schil (UGent) , Robrecht Cannoodt (UGent) , Miriam Bauwens (UGent) , Thalia Van Laethem (UGent) , Sarah De Jaegere (UGent) , Wouter Steyaert (UGent) , Tom Sante (UGent) , Björn Menten (UGent) , Bart Leroy (UGent) , et al.

(2017) GENETICS IN MEDICINE. 19(4). p.457-466

Mark

Non-coding variation in disorders of sex development

Dorien Baetens (UGent) , Berenice Bilharinho de Mendonça, Hannah Verdin (UGent) , Martine Cools (UGent) and Elfride De Baere (UGent)

(2017) CLINICAL GENETICS. 91(2). p.163-172

Mark

SF1 and spleen development : new heterozygous mutation, literature review and consequences for NR5A1-mutated-patient's management

Cindy Colson, Estelle Aubry, Maryse Cartigny, Amélie-Anne Rémy, Hélène Franquet, Xavier Leroy, Géraldine Kéchid, Christine Lefèvre, Rémi Besson, Martine Cools (UGent) , et al.

(2017) CLINICAL GENETICS. 92(1). p.99-103

Mark

Small patella syndrome : new clinical and molecular insights into a consistent phenotype

C Vanlerberghe, A-S Jourdain, A Dieux, A Toutain, Bert Callewaert (UGent) , S Dupuis-Girod, S Unger, M Wright, B Isidor, J Ghoumid, et al.

(2017) CLINICAL GENETICS. 92(6). p.676-678

Mark

Identification and characterization of a Masculinizer (Masc) gene involved in sex differentiation in Artemia

Dong-Rui Li, Hui-Li Ye, Jin-Shu Yang, Fan Yang, Mo-Ran Wang, Stephanie De Vos (UGent) , Marnik Vuylsteke (UGent) , Patrick Sorgeloos (UGent) , Gilbert Van Stappen (UGent) , Peter Bossier (UGent) , et al.

(2017) GENE. 614. p.56-64

Mark

journalArticle
A1
open access

Neuroimaging findings in Mowat-Wilson syndrome : a study of 54 patients

Livia Garavelli, Ivan Ivanovski, Stefano Giuseppe Caraffi, Daniela Santodirocco, Marzia Pollazzon, Duccio Maria Cordelli, Ebtesam Abdalla, Patrizia Accorsi, Margaret P Adam, Chiara Baldo, et al.

(2017) GENETICS IN MEDICINE. 19(6). p.691-700

Academic Bibliography

Chronic fatigue in Ehlers-Danlos syndrome-hypermobile type

Recurrent promoter mutations in melanoma are defined by an extended context-specific mutational signature

CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients

The 2017 International Classification of the Ehlers-Danlos Syndromes

arrEYE : a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs

Non-coding variation in disorders of sex development

SF1 and spleen development : new heterozygous mutation, literature review and consequences for NR5A1-mutated-patient's management

Small patella syndrome : new clinical and molecular insights into a consistent phenotype

Identification and characterization of a Masculinizer (Masc) gene involved in sex differentiation in Artemia

Neuroimaging findings in Mowat-Wilson syndrome : a study of 54 patients

Contents

Support

Contact