Ghent University Academic Bibliography

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Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix

Sarah Delbaere (UGent) , Tibbe Dhooge (UGent) , Delfien Syx (UGent) , Florence Petit, Nathalie Goemans, Anne Destrée, Olivier Vanakker (UGent) , Riet De Rycke (UGent) , Sofie Symoens (UGent) and Fransiska Malfait (UGent)

(2020) GENETICS IN MEDICINE. 22(1). p.112-123
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- Journal Article
- A1
- open access
The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56

Basamat Almoallem Mohammed (UGent) , Gavin Arno, Julie De Zaeytijd (UGent) , Hannah Verdin (UGent) , Irina Balikova (UGent) , Ingele Casteels, Thomy de Ravel, Sarah Hull, Martina Suzani, Anne Destrée, et al.

(2020) SCIENTIFIC REPORTS. 10.
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A clinical scoring system for congenital contractural arachnodactyly

Ilse Meerschaut (UGent) , Shana De Coninck, Wouter Steyaert (UGent) , Angela Barnicoat, Allan Bayat, Francesco Benedicenti, Siren Berland, Edward M. Blair, Jeroen Breckpot, Anna de Burca, et al.

(2020) GENETICS IN MEDICINE. 22(1). p.124-131
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- Conference Paper
- C3
Heterozygous defects in collagen XII cause myopathic Ehlers-Danlos syndrome and lead to variant-specific alterations in the extracellular matrix

Sarah Delbaere (UGent) , Tibbe Dhooge (UGent) , Delfien Syx (UGent) , Florence Petit, Nathalie Goemans, Anne Destree, Olivier Vanakker (UGent) , Riet De Rycke (UGent) , Sofie Symoens (UGent) and Fransiska Malfait (UGent)

(2019) Belgian Society for Human Genetics, 19th Annual meeting, Abstracts.
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The Belgian MicroArray Prenatal (BEMAPRE) database : a systematic nationwide repository of fetal genomic aberrations

Joke Muys, Bettina Blaumeiser, Yves Jacquemyn, Claude Bandelier, Nathalie Brison, Saskia Bulk, Patrizia Chiarappa, Winnie Courtens, Anne De Leener, Marjan De Rademaeker, et al.

(2018) PRENATAL DIAGNOSIS. 38(13). p.1120-1128
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- Journal Article
- A1
- open access
Genotype-phenotype correlation in NF1 : evidence for a more severe phenotype associated with missense mutations affecting NF1 codons 844–848

Magdalena Koczkowska, Yunjia Chen, Tom Callens, Alicia Gomes, Angela Sharp, Sherrell Johnson, Meng-Chang Hsiao, Zhenbin Chen, Meena Balasubramanian, Christopher P Barnett, et al.

(2018) AMERICAN JOURNAL OF HUMAN GENETICS. 102(1). p.69-87
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STXBP1 encephalopathy : a neurodevelopmental disorder including epilepsy

Hannah Stamberger, Marina Nikanorova, Marjolein H Willemsen, Patrizia Accorsi, Marco Angriman, Hartmut Baier, Ira Benkel-Herrenbrueck, Valérie Benoit, Mauro Budetta, Almuth Caliebe, et al.

(2016) NEUROLOGY. 86(10). p.954-962
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- Journal Article
- A1
- open access
High incidence of Noonan syndrome features including short stature and pulmonic stenosis in patients carrying NF1 missense mutations affecting p.Arg1809: genotype-phenotype correlation

Kitiwan Rojnueangnit, Jing Xie, Alicia Gomes, Angela Sharp, Tom Callens, Yunjia Chen, Ying Liu, Meagan Cochran, Mary-Alice Abbott, Joan Atkin, et al.

(2015) HUMAN MUTATION. 36(11). p.1052-1063
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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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Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome

Nathalie Van der Aa, Liesbeth Rooms, Geert Vandeweyer, Jenneke van den Ende, Edwin Reyniers, Marco Fichera, Corrado Romano, BARBARA DELLE CHIAIE (UGent) , Geert Mortier (UGent) , Björn Menten (UGent) , et al.

(2009) EUROPEAN JOURNAL OF MEDICAL GENETICS. 52(2-3). p.94-100

Academic Bibliography

Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix

The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56

A clinical scoring system for congenital contractural arachnodactyly

Heterozygous defects in collagen XII cause myopathic Ehlers-Danlos syndrome and lead to variant-specific alterations in the extracellular matrix

The Belgian MicroArray Prenatal (BEMAPRE) database : a systematic nationwide repository of fetal genomic aberrations

Genotype-phenotype correlation in NF1 : evidence for a more severe phenotype associated with missense mutations affecting NF1 codons 844–848

STXBP1 encephalopathy : a neurodevelopmental disorder including epilepsy

High incidence of Noonan syndrome features including short stature and pulmonic stenosis in patients carrying NF1 missense mutations affecting p.Arg1809: genotype-phenotype correlation

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

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome

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