Ghent University Academic Bibliography

Journal Article
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

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How long noncoding RNAs enforce their will on mitochondrial activity : regulation of mitochondrial respiration, reactive oxygen species production, apoptosis, and metabolic reprogramming in cancer

Boel De Paepe (UGent) , Steve Lefever (UGent) and Pieter Mestdagh (UGent)

(2018) CURRENT GENETICS. 64(1). p.163-172

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Journal Article
A1
open access

Recent developments in genetics and medically assisted reproduction : from research to clinical applications

J. C. Harper, K. Aittomäki, P. Borry, M. C. Cornel, G. de Wert, W. Dondorp, J. Geraedts, L. Gianaroli, K. Ketterson, I. Liebaers, et al.

(2018) EUROPEAN JOURNAL OF HUMAN GENETICS . 26(1). p.12-33

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Journal Article
A1
open access

Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome : a systematic review

Sanne D'hondt (UGent) , Tim Van Damme (UGent) and Fransiska Malfait (UGent)

(2018) GENETICS IN MEDICINE. 20(6). p.562-573

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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. 20(10). p.1236-1245

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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. 20(10). p.1206-1215

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The BRCA1 c. 5096G > A p.Arg1699Gln (R1699Q) intermediate risk variant : breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium

Setareh Moghadasi, Huong D Meeks, Maaike PG Vreeswijk, Linda AM Janssen, Ake Borg, Hans Ehrencrona, Ylva Paulsson-Karlsson, Barbara Wappenschmidt, Christoph Engel, Andrea Gehrig, et al.

(2018) JOURNAL OF MEDICAL GENETICS. 55(1). p.15-20

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Journal Article
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. 20(9). p.965-975

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Journal Article
A1
open access

Genetic analysis of osteogenesis imperfecta in the Palestinian population : molecular screening of 49 affected families

Osama Essawi (UGent) , Sofie Symoens (UGent) , Maha Fannana, Mohammad Darwish, Mohammad Farraj, Andy Willaert (UGent) , Tamer Essawi, Bert Callewaert (UGent) , Anne De Paepe (UGent) , Fransiska Malfait (UGent) , et al.

(2018) MOLECULAR GENETICS & GENOMIC MEDICINE. 6(1). p.15-26

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Thorough in silico and in vitro cDNA analysis of 21 putative BRCA1 and BRCA2 splice variants and a complex tandem duplication in BRCA2 allowing the identification of activated cryptic splice donor sites in BRCA2 exon 11

Annelot Baert (UGent) , Eva Machackova, Ilse Coene (UGent) , Carol Cremin, Kristin Turner, Cheryl Portigal-Todd, Marie Jill Asrat, Jennifer Nuk, Allison Mindlin, Sean Young, et al.

(2018) HUMAN MUTATION. 39(4). p.515-526

Academic Bibliography

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

How long noncoding RNAs enforce their will on mitochondrial activity : regulation of mitochondrial respiration, reactive oxygen species production, apoptosis, and metabolic reprogramming in cancer

Recent developments in genetics and medically assisted reproduction : from research to clinical applications

Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome : a systematic review

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

The BRCA1 c. 5096G > A p.Arg1699Gln (R1699Q) intermediate risk variant : breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium

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

Genetic analysis of osteogenesis imperfecta in the Palestinian population : molecular screening of 49 affected families

Thorough in silico and in vitro cDNA analysis of 21 putative BRCA1 and BRCA2 splice variants and a complex tandem duplication in BRCA2 allowing the identification of activated cryptic splice donor sites in BRCA2 exon 11

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