Ghent University Academic Bibliography

Journal Article
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

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Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndrome

Sofie Symoens (UGent) , Wouter Steyaert (UGent) , Lynn Demuynck (UGent) , Anne De Paepe (UGent) , Karin EM Diderich, Fransiska Malfait (UGent) and Paul Coucke (UGent)

(2017) AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 173(4). p.1047-1050

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Revised risk estimation and treatment stratification of low- and intermediate-risk neuroblastoma patients by integrating clinical and molecular prognostic markers

André Oberthuer, Dilafruz Juraeva, Barbara Hero, Ruth Volland, Carolina Sterz, Rene Schmidt, Andreas Faldum, Yvonne Kahlert, Anne Engesser, Shahab Asgharzadeh, et al.

(2015) CLINICAL CANCER RESEARCH. 21(8). p.1904-1915

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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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Detection of MDM2/CDK4 amplification in lipomatous soft tissue tumors from formalin-fixed, paraffin-embedded tissue: comparison of multiplex ligation-dependent probe amplification (MLPA) and fluorescence in situ hybridization (FISH)

David Creytens (UGent) , Joost van Gorp, Liesbeth Ferdinande (UGent) , Ernst-Jan Speel and Louis Libbrecht (UGent)

(2015) APPLIED IMMUNOHISTOCHEMISTRY & MOLECULAR MORPHOLOGY. 23(2). p.126-133

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Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder

Douglas R Stewart, Hilde Brems, Alicia G Gomes, Sarah L Ruppert, Tom Callens, Jennifer Williams, Kathleen Claes (UGent) , Michael B Bober, Rachel Hachen, Leonard B Kaban, et al.

(2014) GENETICS IN MEDICINE. 16(6). p.448-459

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Journal Article
A1
open access

MEN1 Gene mutation and reduced expression are associated with poor prognosis in pulmonary carcinoids

Dorian RA Swarts, Aldo Scarpa, Vicenzo Corbo, Wim Van Criekinge (UGent) , Manon van Engeland, Gaia Gatti, Mieke ER Henfling, Mauro Papotti, Aurel Perren, Frans CS Ramaekers, et al.

(2014) JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 99(2). p.E374-E378

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Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients

Sarah Vergult (UGent) , A Jeannette M Hoogeboom, Emilia K Bijlsma, Tom Sante (UGent) , Eva Klopocki, Bram De Wilde (UGent) , Marjolijn Jongmans, Christian Thiel, Joke BGM Verheij, Antonio Perez-Aytes, et al.

(2013) GENETICS IN MEDICINE. 15(3). p.195-202

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Identification of recurrent type-2 NF1 microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorder

Julia Vogt, Tanja Mussotter, Kathrin Bengesser, Kathleen Claes (UGent) , Josef Högel, Nadia Chuzhanova, Chuanhua Fu, Jenneke van den Ende, Victor-Felix Mautner, David N Cooper, et al.

(2012) HUMAN MUTATION. 33(11). p.1599-1609

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Journal Article
A1
open access

Improved Molecular Diagnostics of Idiopathic Short Stature and Allied Disorders: Quantitative Polymerase Chain Reaction-Based Copy Number Profiling of SHOX and Pseudoautosomal Region 1

B D'haene, JAN HELLEMANS (UGent) , Margarita Craen (UGent) , Jean De Schepper (UGent) , K Devriendt, JP Fryns, K Keymolen, Eveline Debals (UGent) , A de Klein, EM de Jong, et al.

(2010) JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 95(6). p.3010-3018

Academic Bibliography

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

Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndrome

Revised risk estimation and treatment stratification of low- and intermediate-risk neuroblastoma patients by integrating clinical and molecular prognostic markers

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

Detection of MDM2/CDK4 amplification in lipomatous soft tissue tumors from formalin-fixed, paraffin-embedded tissue: comparison of multiplex ligation-dependent probe amplification (MLPA) and fluorescence in situ hybridization (FISH)

Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder

MEN1 Gene mutation and reduced expression are associated with poor prognosis in pulmonary carcinoids

Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients

Identification of recurrent type-2 NF1 microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorder

Improved Molecular Diagnostics of Idiopathic Short Stature and Allied Disorders: Quantitative Polymerase Chain Reaction-Based Copy Number Profiling of SHOX and Pseudoautosomal Region 1

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