Ghent University Academic Bibliography

Journal Article
A1
open access

Microcoria due to first duplication of 13q32.1 including the GPR180 gene and maternal mosaicism

Elise Pozza, Hannah Verdin (UGent) , Hilde Deconinck, Annelies Dheedene (UGent) , Björn Menten (UGent) , Elfride De Baere (UGent) and Irina Balikova (UGent)

(2020) EUROPEAN JOURNAL OF MEDICAL GENETICS. 63(5).

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Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND)

Gabriella Vera, Arthur Sorlin, Geoffroy Delplancq, François Lecoquierre, Marie Brasseur-Daudruy, Florence Petit, Thomas Smol, Alban Ziegler, Dominique Bonneau, Estelle Colin, et al.

(2020) EUROPEAN JOURNAL OF MEDICAL GENETICS. 63(10).

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Journal Article
A1
open access

New insights on the clinical variability of FKBP10 mutations

Osama Essawi (UGent) , Piyanoot Tapaneeyaphan (UGent) , Sofie Symoens (UGent) , Charlotte Gistelinck (UGent) , Fransiska Malfait (UGent) , David Eyre, Tamer Essawi, Bert Callewaert (UGent) and Paul Coucke (UGent)

(2020) EUROPEAN JOURNAL OF MEDICAL GENETICS. 63(9).

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A mild form of Stickler syndrome type II caused by mosaicism of COL11A1

Kathrine F Lauritsen, Dorte L Lildballe, Paul Coucke (UGent) , Rikke Monrad, Dorte A Larsen and Pernille A Gregersen

(2017) EUROPEAN JOURNAL OF MEDICAL GENETICS. 60(5). p.275-278

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7p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephaly

Keiko Shimojima, Satoshi Narai, Masami Togawa, Tomotsune Doumoto, Noriko Sangu, Olivier Vanakker (UGent) , Anne De Paepe (UGent) , Matthew Edwards, John Whitehall, Sally Brescianini, et al.

(2016) EUROPEAN JOURNAL OF MEDICAL GENETICS. 59(10). p.502-506

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Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges

Olivier Vanakker (UGent) , Catheline Vilain, Katrien Janssens, Nathalie Van der Aa, Guillaume Smits, Claude Bandelier, Bettina Blaumeiser, Saskia Bulk, Jean-Hubert Caberg, Anne De Leener, et al.

(2014) EUROPEAN JOURNAL OF MEDICAL GENETICS. 57(4). p.151-156

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Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene

Adeline Jacquinet, Alain Verloes, Bert Callewaert (UGent) , Christine Coremans, Paul Coucke (UGent) , Anne De Paepe (UGent) , Uwe Kornak, Frederic Lebrun, Jacques Lombet, Gérald E Piérard, et al.

(2014) EUROPEAN JOURNAL OF MEDICAL GENETICS. 57(5). p.230-234

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Co-occurrence of congenital hydronephrosis and FOXL2-associated blepharophimosis, ptosis, epicanthus inversus syndrome (BPES)

Reena Gulati, Hannah Verdin (UGent) , Dhanapathi Halanaik, B Vishnu Bhat and Elfride De Baere (UGent)

(2014) EUROPEAN JOURNAL OF MEDICAL GENETICS. 57(10). p.576-578

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Exome sequencing identifies ZFPM2 as a cause of familial isolated congenital diaphragmatic hernia and possibly cardiovascular malformations

Paul D Brady, Jeroen Van Houdt, Bert Callewaert (UGent) , Jan Deprest, Koenraad Devriendt and Joris R Vermeesch

(2014) EUROPEAN JOURNAL OF MEDICAL GENETICS. 57(6). p.247-252

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Unusual 8p inverted duplication deletion with telomere capture from 8q

Karen Buysse (UGent) , F Antonacci, Bert Callewaert (UGent) , Bart Loeys (UGent) , Ulrike Fränkel, Victoria Siu, Geert Mortier (UGent) , Franki Speleman (UGent) and Björn Menten (UGent)

(2009) EUROPEAN JOURNAL OF MEDICAL GENETICS. 52(1). p.31-36

Academic Bibliography

Microcoria due to first duplication of 13q32.1 including the GPR180 gene and maternal mosaicism

Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND)

New insights on the clinical variability of FKBP10 mutations

A mild form of Stickler syndrome type II caused by mosaicism of COL11A1

7p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephaly

Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges

Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene

Co-occurrence of congenital hydronephrosis and FOXL2-associated blepharophimosis, ptosis, epicanthus inversus syndrome (BPES)

Exome sequencing identifies ZFPM2 as a cause of familial isolated congenital diaphragmatic hernia and possibly cardiovascular malformations

Unusual 8p inverted duplication deletion with telomere capture from 8q

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