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ArticlesPeer ReviewedFull Text
Serine Protease Activity and Residual LEKTI Expression Determine Phenotype in Netherton Syndrome
Author / Creator:Hachem, Jean-Pierre ; Wagberg, Fredrik ; Schmuth, Matthias ; Crumrine, Debra ; Lissens, Willy ; Jayakumar, Arumugam ; Houben, Evi ; Mauro, Theodora M. ; Leonardsson, Göran ; Brattsand, Maria ; Egelrud, Torbjorn ; Roseeuw, Diane ; Clayman, Gary L. ; Feingold, Kenneth R. ; Williams, Mary L. ; Elias, Peter M.
Publisher:United States: Elsevier Inc
Journal title:Journal of investigative dermatology, 2006-07, Vol.126 (7), p.1609-1621
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A Bumpy Ride on the Diagnostic Bench of Massive Parallel Sequencing, the Case of the Mitochondrial Genome
Author / Creator:Vancampenhout, Kim ; Caljon, Ben ; Spits, Claudia ; Stouffs, Katrien ; Jonckheere, An ; De Meirleir, Linda ; Lissens, Willy ; Vanlander, Arnaud ; Smet, Joél ; De Paepe, Boel ; Van Coster, Rudy ; Seneca, Sara
Publisher:United States: Public Library of Science
Journal title:PloS one, 2014-11, Vol.9 (11), p.e112950-e112950
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A new double substitution mutation in the MEN1 gene: a limited penetrance and a specific phenotype
Author / Creator:Ullmann, Urielle ; Unuane, David ; Velkeniers, Brigitte ; Lissens, Willy ; Wuyts, Wim ; Bonduelle, Maryse
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2013-06, Vol.21 (6), p.695-697
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Mutations in the gene encoding the latency-associated peptide of TGF-β1 cause Camurati-Engelmann disease
Author / Creator:Janssens, Katrien ; Gershoni-Baruch, Ruth ; Guañabens, Nuria ; Migone, Nicola ; Ralston, Stuart ; Bonduelle, Maryse ; Lissens, Willy ; Van Maldergem, Lionel ; Vanhoenacker, Filip ; Verbruggen, Leon ; Van Hul, Wim
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2000-11, Vol.26 (3), p.273-275
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A single mutation in the GALC gene is responsible for the majority of late onset Krabbe disease patients in the Catania (Sicily, Italy) region
Author / Creator:Lissens, Willy ; Arena, Alessia ; Seneca, Sara ; Rafi, Mohammad ; Sorge, Giovanni ; Liebaers, Inge ; Wenger, David ; Fiumara, Agata
Publisher:Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2007-07, Vol.28 (7), p.742-742
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Genetically heterogeneous selective intestinal malabsorption of vitamin B12: Founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle East
Author / Creator:Tanner, Stephan M. ; Li, Zhongyuan ; Bisson, Ryan ; Acar, Ceren ; Öner, Cihan ; Öner, Reyhan ; Çetin, Mualla ; Abdelaal, Mohamed A. ; Ismail, Essam A. ; Lissens, Willy ; Krahe, Ralf ; Broch, Harald ; Gräsbeck, Ralph ; Chapelle, Albert de la
Publisher:Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2004-04, Vol.23 (4), p.327-333
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De novo Alu element insertions targeted to a sequence common to the BRCA1 and BRCA2 genes
Author / Creator:Teugels, Erik ; De Brakeleer, Sylvia ; Goelen, Guido ; Lissens, Willy ; Sermijn, Erica ; De Grève, Jacques
Publisher:Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2005-09, Vol.26 (3), p.284-284
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Lactic Acidosis in a Newborn With Adrenal Calcifications
Author / Creator:Zecic, Alexandra ; Smet, Joél E ; Praeter, Claudine M De ; Vanhaesebrouck, Piet ; Viscomi, Carlo ; Broecke, Caroline Van Den ; Paepe, Boel De ; Lohse, Peter ; Martin, Jean-Jacques ; Jackson, Joshua G ; Campbell, Colin R ; Meirleir, Linda J De ; Zeviani, Massimo ; Seneca, Sara H ; Lissens, Willy ; Coster, Rudy N Van
Publisher:New York: Nature Publishing Group US
Journal title:Pediatric research, 2009-09, Vol.66 (3), p.317-322
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Genetic causes of spermatogenic failure
Author / Creator:Massart, Annelien ; Lissens, Willy ; Tournaye, Herman ; Stouffs, Katrien
Publisher:China: Medknow Publications & Media Pvt. Ltd
Journal title:Asian journal of andrology, 2012-01, Vol.14 (1), p.40-48
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Sertoli Cell-Only Syndrome: Behind the Genetic Scenes
Author / Creator:Seneca, Sara ; Bonduelle, Maryse ; Vandermaelen, Deborah ; Tournaye, Herman ; Gheldof, Alexander ; Stouffs, Katrien ; Lissens, Willy
Publisher:Cairo, Egypt: Hindawi Publishing Corporation
Journal title:BioMed research international, 2016-01, Vol.2016 (2016), p.1-7
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Analysis of the whole mitochondrial genome: translation of the Ion Torrent Personal Genome Machine system to the diagnostic bench?
Author / Creator:Seneca, Sara ; Vancampenhout, Kim ; Van Coster, Rudy ; Smet, Joél ; Lissens, Willy ; Vanlander, Arnaud ; De Paepe, Boel ; Jonckheere, An ; Stouffs, Katrien ; De Meirleir, Linda
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2015-01, Vol.23 (1), p.41-48
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Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts
Author / Creator:Vandervore, Laura ; Stouffs, Katrien ; Tanyalçin, Ibrahim ; Vanderhasselt, Tim ; Roelens, Filip ; Holder-Espinasse, Muriel ; Jørgensen, Agnete ; Pepin, Melanie G ; Petit, Florence ; Khau Van Kien, Philippe ; Bahi-Buisson, Nadia ; Lissens, Willy ; Gheldof, Alexander ; Byers, Peter H ; Jansen, Anna C
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2017-06, Vol.54 (6), p.432-440
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Convert your favorite protein modeling program into a mutation predictor: “MODICT”
Author / Creator:Tanyalcin, Ibrahim ; Stouffs, Katrien ; Daneels, Dorien ; Al Assaf, Carla ; Lissens, Willy ; Jansen, Anna ; Gheldof, Alexander
Publisher:England: BioMed Central Ltd
Journal title:BMC bioinformatics, 2016-10, Vol.17 (1), p.425-425, Article 425
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SCN4A variants and Brugada syndrome: phenotypic and genotypic overlap between cardiac and skeletal muscle sodium channelopathies
Author / Creator:Bissay, Véronique ; Van Malderen, Sophie CH ; Keymolen, Kathelijn ; Lissens, Willy ; Peeters, Uschi ; Daneels, Dorien ; Jansen, Anna C ; Pappaert, Gudrun ; Brugada, Pedro ; De Keyser, Jacques ; Van Dooren, Sonia
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2016-03, Vol.24 (3), p.400-407
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Characterization of CoQ10 biosynthesis in fibroblasts of patients with primary and secondary CoQ10 deficiency
Author / Creator:Buján, Nuria ; Arias, Angela ; Montero, Raquel ; García-Villoria, Judit ; Lissens, Willy ; Seneca, Sara ; Espinós, Carmen ; Navas, Plácido ; De Meirleir, Linda ; Artuch, Rafael ; Briones, Paz ; Ribes, Antonia
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2014-01, Vol.37 (1), p.53-62
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Clinical implementation of gene panel testing for lysosomal storage diseases
Author / Creator:Gheldof, Alexander ; Seneca, Sara ; Stouffs, Katrien ; Lissens, Willy ; Jansen, Anna ; Laeremans, Hilde ; Verloo, Patrick ; Schoonjans, An‐Sofie ; Meuwissen, Marije ; Barca, Diana ; Martens, Geert ; De Meirleir, Linda
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2019-02, Vol.7 (2), p.e00527-n/a
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De novo Alu element insertions targeted to a sequence common to the BRCA1 and BRCA2 genes
Author / Creator:Teugels, Erik ; De Brakeleer, Sylvia ; Goelen, Guido ; Lissens, Willy ; Sermijn, Erica ; De Grève, Jacques
Publisher:Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2005-09, Vol.26 (3), p.284-284
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Possible role of USP26 in patients with severely impaired spermatogenesis
Author / Creator:Stouffs, Katrien ; Lissens, Willy ; Tournaye, Herman ; Van Steirteghem, André ; Liebaers, Inge
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2005-03, Vol.13 (3), p.336-340
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Complex III staining in blue native polyacrylamide gels
Author / Creator:Smet, Joél ; De Paepe, Boel ; Seneca, Sara ; Lissens, Willy ; Kotarsky, Heike ; De Meirleir, Linda ; Fellman, Vineta ; Van Coster, Rudy
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2011-06, Vol.34 (3), p.741-747
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ArticlesPeer ReviewedFull Text
生精障碍的遗传因素
Author / Creator:Annelien Massart Willy Lissens Herman Tournaye Katrien Stouffs
Journal title:亚洲男性学杂志：英文版, 2012, Vol.14 (1), p.40-48
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Showing 1 to 20 of 38 results

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Serine Protease Activity and Residual LEKTI Expression Determine Phenotype in Netherton Syndrome

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A Bumpy Ride on the Diagnostic Bench of Massive Parallel Sequencing, the Case of the Mitochondrial Genome

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A new double substitution mutation in the MEN1 gene: a limited penetrance and a specific phenotype

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Mutations in the gene encoding the latency-associated peptide of TGF-β1 cause Camurati-Engelmann disease

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A single mutation in the GALC gene is responsible for the majority of late onset Krabbe disease patients in the Catania (Sicily, Italy) region

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Genetically heterogeneous selective intestinal malabsorption of vitamin B12: Founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle East

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De novo Alu element insertions targeted to a sequence common to the BRCA1 and BRCA2 genes

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Lactic Acidosis in a Newborn With Adrenal Calcifications

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Genetic causes of spermatogenic failure

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Sertoli Cell-Only Syndrome: Behind the Genetic Scenes

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Analysis of the whole mitochondrial genome: translation of the Ion Torrent Personal Genome Machine system to the diagnostic bench?

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Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts

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Convert your favorite protein modeling program into a mutation predictor: “MODICT”

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SCN4A variants and Brugada syndrome: phenotypic and genotypic overlap between cardiac and skeletal muscle sodium channelopathies

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Characterization of CoQ10 biosynthesis in fibroblasts of patients with primary and secondary CoQ10 deficiency

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Clinical implementation of gene panel testing for lysosomal storage diseases

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De novo Alu element insertions targeted to a sequence common to the BRCA1 and BRCA2 genes

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Possible role of USP26 in patients with severely impaired spermatogenesis

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Complex III staining in blue native polyacrylamide gels

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生精障碍的遗传因素

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