Academic Bibliography

Mark

journalArticle
A1
open access

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care

Ivan Ivanovski, Olivera Djuric, Stefano Giuseppe Caraffi, Daniela Santodirocco, Marzia Pollazzon, Simonetta Rosato, Duccio Maria Cordelli, Ebtesam Abdalla, Patrizia Accorsi, Margaret P Adam, et al.

(2018) GENETICS IN MEDICINE.

Mark

Arterial tortuosity syndrome : 40 new families and literature review

Aude Beyens (UGent) , Juliette Albuisson, Annekatrien Boel (UGent) , Mazen Al-Essa, Waheed Al-Manea, Damien Bonnet, Ozlem Bostan, Odile Boute, Tiffany Busa, Nathalie Canham, et al.

(2018) GENETICS IN MEDICINE.

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Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations

Ellen S Regalado, Lauren Mellor-Crummey, Julie De Backer (UGent) , Alan C Braverman, Lesley Ades, Susan Benedict, Timothy J Bradley, M Elizabeth Brickner, Kathryn C Chatfield, Anne Child, et al.

(2018) GENETICS IN MEDICINE.

Mark

journalArticle
A1
open access

Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations

Kristof Van Schil (UGent) , Sarah Naessens (UGent) , Stijn Van De Sompele (UGent) , Marjolein Carron (UGent) , Alexander Aslanidis, Caroline Van Cauwenbergh (UGent) , Anja Kathrin Mayer, Mattias Van Heetvelde (UGent) , Miriam Bauwens (UGent) , Hannah Verdin (UGent) , et al.

(2018) GENETICS IN MEDICINE. 20(2). p.202-213

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

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

Mark

journalArticle
A1
open access

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development

Dorien Baetens (UGent) , Hans Stoop, Frank Peelman (UGent) , Anne-Laure Todeschini, Toon Rosseel (UGent) , Frauke Coppieters (UGent) , Reiner Veitia, Leendert Looijenga, Elfride De Baere (UGent) and Martine Cools (UGent)

(2017) GENETICS IN MEDICINE. 19(4). p.367-376

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Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type

Tim Van Damme (UGent) , Alain Colige, Delfien Syx (UGent) , Cecilia Giunta, Uschi Lindert, Marianne Rohrbach, Omid Aryani, Yasemin Alanay, Pelin Özlem Simsek-Kiper, Hester Y Kroes, et al.

(2016) GENETICS IN MEDICINE. 18(9). p.882-891

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Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity

Nina De Rocker (UGent) , Sarah Vergult (UGent) , David Koolen, Eva Jacobs (UGent) , Alexander Hoischen, Susan Zeesman, Birgitte Bang, Frédérique Béna, Nele Bockaert, Ernie Bongers, et al.

(2015) GENETICS IN MEDICINE. 17(6). p.460-466

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Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion

Kristof Van Schil (UGent) , Françoise Meire, Marcus Karlstetter, Miriam Bauwens (UGent) , Hannah Verdin (UGent) , Frauke Coppieters (UGent) , Eva Scheiffert, Christian Van Nechel, Thomas Langmann, Nicolas Deconinck, et al.

(2015) GENETICS IN MEDICINE. 17(4). p.291-299

Academic Bibliography

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care

Arterial tortuosity syndrome : 40 new families and literature review

Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations

Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations

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

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

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development

Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type

Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity

Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion

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