N. Lannoy

发表

Novel germline mutations in the APC gene and their phenotypic spectrum in familial adenomatous polyposis kindreds

C. Verellen-Dumoulin, G. Michils, A. Kartheuser, 1997, Human Genetics.

High CTG repeat number in nodular thyroid tissue from a myotonic dystrophy patient.

J. Squifflet, G. Verellen, C. Verellen-Dumoulin, 1994, Journal of medical genetics.

Functional Assessment of TSC2 Variants Identified in Individuals with Tuberous Sclerosis Complex

R. Ekong, S. Povey, A. V. D. van den Ouweland, 2013, Human mutation.

Intron 22 homologous regions are implicated in exons 1–22 duplications of the F8 gene

M. Vikkula, B. Grisart, C. Hermans, 2013, European Journal of Human Genetics.

Principles of genetic variations and molecular diseases: applications in hemophilia A.

C. Hermans, N. Lannoy, 2016, Critical reviews in oncology/hematology.

Tandem inversion duplication within F8 Intron 1 associated with mild haemophilia A

M. Vikkula, B. Grisart, C. Hermans, 2015, Haemophilia : the official journal of the World Federation of Hemophilia.

Genetic mosaicism in haemophilia: A practical review to help evaluate the risk of transmitting the disease

C. Hermans, N. Lannoy, 2020, Haemophilia : the official journal of the World Federation of Hemophilia.

CF gene and cystic fibrosis transmembrane conductance regulator expression in autosomal dominant polycystic kidney disease.

P. Gabow, O. Devuyst, G. Brosnahan, 2000, Journal of the American Society of Nephrology : JASN.

Accessibility and visibility of genetic testing for haemophilia across Europe: Where do we stand?

C. Hermans, N. Lannoy, 2022, Haemophilia : the official journal of the World Federation of Hemophilia.

The ‘royal disease’– haemophilia A or B? A haematological mystery is finally solved

C. Hermans, N. Lannoy, 2010, Haemophilia : the official journal of the World Federation of Hemophilia.

Inhibitor epidemiology and genetic‐related risk factors in people with haemophilia from Côte d’Ivoire

C. Hermans, C. Lambert, N. Meité, 2019, Haemophilia : the official journal of the World Federation of Hemophilia.

Computational and molecular approaches for predicting unreported causal missense mutations in Belgian patients with haemophilia A

C. Hermans, C. Lambert, C. Vermylen, 2012, Haemophilia : the official journal of the World Federation of Hemophilia.

Comparative study of the prevalence of clotting factor deficiency in carriers of haemophilia A and haemophilia B

C. Hermans, C. Lambert, N. Lannoy, 2017, Haemophilia : the official journal of the World Federation of Hemophilia.

Isolated polycystic liver disease as a distinct genetic disease, unlinked to polycystic kidney disease 1 and polycystic kidney disease 2

M. Breuning, D. Peters, Y. Pirson, 1996, Hepatology.

Molecular analysis of simple and complex genetic variants in a cohort of patients with hemophilia A : mechanisms and diagnostic implications

N. Lannoy, 2015 .

Five int22h homologous copies at the Xq28 locus identified in intron22 inversion type 3 of the Factor VIII gene.

M. Vikkula, B. Grisart, C. Hermans, 2016, Thrombosis research.

Review of molecular mechanisms at distal Xq28 leading to balanced or unbalanced genomic rearrangements and their phenotypic impacts on hemophilia

C. Hermans, N. Lannoy, 2018, Haemophilia : the official journal of the World Federation of Hemophilia.

Prevalence and Spectrum of SDHx Mutations in Pheochromocytoma and Paraganglioma in Patients from Belgium: An Update

M. Vikkula, M. Hamoir, D. Maiter, 2012, Hormone and Metabolic Research.

Overrepresentation of missense mutations in mild hemophilia A patients from Belgium: founder effect or independent occurrence?

M. Vikkula, C. Hermans, C. Lambert, 2015, Thrombosis research.

The genetic background of familial adenomatous polyposis. Linkage analysis, the APC gene identification and mutation screening.

J. Burn, A. Kartheuser, A. Curtis, 1995, Acta gastro-enterologica Belgica.

Identification of de novo deletion in the factor VIII gene by MLPA technique in two girls with isolated factor VIII deficiency

K. Dahan, C. Hermans, N. Lannoy, 2009, Haemophilia : the official journal of the World Federation of Hemophilia.

Usual and unusual mutations in a cohort of Belgian patients with hemophilia B.

C. Hermans, C. Lambert, A. Farrugia, 2017, Thrombosis research.