Isolated polycystic liver disease as a distinct genetic disease, unlinked to polycystic kidney disease 1 and polycystic kidney disease 2 Y Pirson, N Lannoy, D Peters, A Geubel, J Gigot, M Breuning, ... Hepatology 23 (2), 249-252, 1996 | 101 | 1996 |
Functional Assessment of TSC2 Variants Identified in Individuals with Tuberous Sclerosis Complex M Hoogeveen‐Westerveld, R Ekong, S Povey, K Mayer, N Lannoy, ... Human mutation 34 (1), 167-175, 2013 | 71 | 2013 |
CF gene and cystic fibrosis transmembrane conductance regulator expression in autosomal dominant polycystic kidney disease A Persu, O Devuyst, N Lannoy, R Materne, G Brosnahan, PA Gabow, ... Journal of the American Society of Nephrology 11 (12), 2285-2296, 2000 | 59 | 2000 |
Novel germline mutations in the APC gene and their phenotypic spectrum in familial adenomatous polyposis kindreds C Walon, A Kartheuser, G Michils, M Smaers, N Lannoy, P Ngounou, ... Human genetics 100, 601-605, 1997 | 56 | 1997 |
The ‘royal disease’–haemophilia A or B? A haematological mystery is finally solved N Lannoy, C Hermans Haemophilia 16 (6), 843-847, 2010 | 36 | 2010 |
Principles of genetic variations and molecular diseases: applications in hemophilia A N Lannoy, C Hermans Critical Reviews in Oncology/Hematology 104, 1-8, 2016 | 34 | 2016 |
Intron 22 homologous regions are implicated in exons 1–22 duplications of the F8 gene N Lannoy, B Grisart, S Eeckhoudt, C Verellen-Dumoulin, C Lambert, ... European Journal of Human Genetics 21 (9), 970-976, 2013 | 34 | 2013 |
Genetic mosaicism in haemophilia: A practical review to help evaluate the risk of transmitting the disease N Lannoy, C Hermans Haemophilia 26 (3), 375-383, 2020 | 23 | 2020 |
Identification of de novo deletion in the factor VIII gene by MLPA technique in two girls with isolated factor VIII deficiency N Lannoy, I Abinet, K Dahan, C Hermans Haemophilia 15 (3), 797-801, 2009 | 20 | 2009 |
Computational and molecular approaches for predicting unreported causal missense mutations in Belgian patients with haemophilia A N Lannoy, I Abinet, A Bosmans, C Lambert, C Vermylen, C Hermans Haemophilia 18 (3), e331-e339, 2012 | 18 | 2012 |
The genetic background of familial adenomatous polyposis. Linkage analysis, the APC gene identification and mutation screening. A Kartheuser, S West, C Walon, A Curtis, T Hamzehloei, N Lannoy, ... Acta gastro-enterologica belgica 58 (5-6), 433-451, 1995 | 16 | 1995 |
Prevalence and spectrum of SDHx mutations in pheochromocytoma and paraganglioma in patients from Belgium: an update A Persu, N Lannoy, D Maiter, A Mendola, P Montigny, P Oriot, W Vinck, ... Hormone and metabolic research 44 (05), 349-353, 2012 | 14 | 2012 |
High CTG repeat number in nodular thyroid tissue from a myotonic dystrophy patient. C Daumerie, N Lannoy, JP Squifflet, G Verellen, C Verellen-Dumoulin Journal of medical genetics 31 (11), 891-892, 1994 | 14 | 1994 |
Review of molecular mechanisms at distal Xq28 leading to balanced or unbalanced genomic rearrangements and their phenotypic impacts on hemophilia N Lannoy, C Hermans Haemophilia 24 (5), 711-719, 2018 | 9 | 2018 |
Incidental finding of unreported large duplication in F8 gene during prenatal analysis: Which management for genetic counselling? N Lannoy, C Lambert, A Van Damme, C Hermans Thrombosis research 182, 39-42, 2019 | 7 | 2019 |
Comparative study of the prevalence of clotting factor deficiency in carriers of haemophilia A and haemophilia B. A Boban, C Lambert, N Lannoy, C Hermans Haemophilia 23 (5), 2017 | 7 | 2017 |
Overrepresentation of missense mutations in mild hemophilia A patients from Belgium: founder effect or independent occurrence? N Lannoy, C Lambert, M Vikkula, C Hermans Thrombosis Research 135 (6), 1057-1063, 2015 | 7 | 2015 |
Usual and unusual mutations in a cohort of Belgian patients with hemophilia B N Lannoy, C Lambert, A Farrugia, A Van Damme, C Hermans Thrombosis Research 149, 25-28, 2017 | 6 | 2017 |
F8 intron 22 inversions and SNP rs73563631 in unrelated families with severe haemophilia A: clinical features and gene testing implications MM Abelleyro, LC Rossetti, M de los Ángeles Curto, CP Radic, ... Thrombosis and Haemostasis 115 (03), 678-681, 2016 | 6 | 2016 |
Tandem inversion duplication within F8 Intron 1 associated with mild haemophilia A N Lannoy, C Bandelier, B Grisart, M Reginster, E Ronge‐Collard, ... Haemophilia 21 (4), 516-522, 2015 | 6 | 2015 |