M. Goossens

Clinical versus genetic diagnosis of familial Mediterranean fever (2000)

Grateau, G., Pêcheux, C., Cazeneuve, C., Cattan, D., Dervichian, M., Goossens, M., ...

The diagnosis of familial Mediterranean fever (FMF) has until recently been based on clinical signs alone. Discovery of the MEFV gene has enabled a molecular approach to diagnosis, which is...

SOX10 mutations in patients with Waardenburg-Hirschsprung disease (1998)

Pingault, V, Bondurand, N, Kuhlbrodt, K, Goerich, D E, Préhu, M O, Puliti, A, ...

Waardenburg syndrome (WS; deafness with pigmentary abnormalities) and Hirschsprung's disease (HSCR; aganglionic megacolon) are congenital disorders caused by defective function of the embryonic...

Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation (1998)

Cuppens, Hilde; U0035770, Lin, Wei; U0005017, Jaspers, Martine; U0020932, Costes, B, Teng, Hui; U0016292, Vankeerberghen, An, ...

In congenital bilateral absence of the vas deferens patients, the T5 allele at the polymorphic Tn locus in the CFTR (cystic fibrosis transmembrane conductance regulator) gene is a frequent disease...

Haemophilia B: database of point mutations and short additions and deletions--eighth edition (1998)

Giannelli, F, Green, PM, Sommer, SS, Poon, M, Ludwig, M, Schwaab, R, ...

Exhaustive scanning approach to screen all the mitochondrial tRNA genes for mutations and its application to the investigation of 35 independent patients with mitochondrial disorders (1998)

Sternberg, D, Danan, C, Lombes, A, Laforet, P, Girodon, E, Goossens, M, ...

Haemophilia B: database of point mutations and short additions and deletions, 7th edition (1997)

Giannelli, F, Green, PM, Sommer, SS, Poon, MC, Ludwig, M, Schwaab, R, ...

Fast surface waves in an ideal Hall magnetohydrodynamic plasma slab (1996)

Zhelyazkov, I, Debosscher, Arnold; U0002843, Goossens, M

The propagation of fast sausage and kink magnetohydrodynamic (MHD) surface waves in an ideal magnetized plasma slab is studied taking into account the Hall term in the generalized Ohm's law. It is...

Haemophilia B (sixth edition): a database of point mutations and short additions and deletions (1996)

Giannelli, F, Green, PM, Sommer, SS, Poon, MC, Ludwig, M, Schwaab, R, ...

Factor VIII gene inversions in severe hemophilia A: results of an international consortium study (1995)

Antonarakis, S E, Rossiter, J P, Young, M, Horst, J, DE MOERLOOSE, P; U0022326, Sommer, S S, ...

Twenty-two molecular diagnostic laboratories from 14 countries participated in a consortium study to estimate the impact of Factor VIII gene inversions in severe hemophilia A. A total of 2,093...

Haemophilia B: database of point mutations and short additions and deletions, fifth edition, 1994 (1994)

Giannelli, F., Green, P.M., Sommer, S.S., Lillicrap, D.P., Ludwig, M., Schwaab, R., ...

The fifth edition of the haemophilia B database lists in easily accessible form all known factor IX mutations due to small changes (base substitutions and short additions and/or deletions of

A naturally-occurring growth-hormone receptor mutation - in-vivo and in-vitro evidence for the functional importance of the ws motif common to all members of the cytokine receptor superfamily (1993)

Duriez, B, Sobrier, Ml, Duquesnoy, P, Tixierboichard, M, Decuypere, Eddy; U0004853, Coquerelle, G, ...

To obtain an animal model for studying the role of the GH receptor (GHR) in growth and development, we analyzed a sex-linked dwarf (SLD) chicken strain (Leghorn) which exhibits phenotype similarities...

Flag condition handling and branch assignment for large microcoded controllers (1993)

Kifli, A, Dewulf, R, Zegers, J, Goossens, M, Six, P, De Man, Hugo; U0008331

Typical control flows for real-time ASICs exhibit complex decision making, and therefore require extensive flag/condition handling and branching. The logic implementation of this part of the...

Psoralen-modified oligonucleotide primers improve detection of mutations by denaturing gradient gel electrophoresis and provide an alternative to GC-clamping (1993)

Costes, B., Girodon, E., Ghanem, N., Chassignol, M., Thuong, N.T., Dupret, D., ...

Denaturing gradient gel electrophoresis (DGGE), a mutation-scanning procedure separating DNA fragments differing by as little as a single base change, is widely used in studies of genomic nucleotide...

Optimized synthesis of asynchronous control-circuits from graph-theoretic specifications (1992)

Vanbekbergen, P, Goossens, M, Catthoor, Francky; U0014055, Deman, Hj

Asynchronous circuits offer particular advantages in comparison with synchronous circuits, but a fault-free and efficient asynchronous design is difficult to achieve. Therefore, synthesis support for...

Combined hardware selection and pipelining in high-performance data-path design (1992)

Note, S, Catthoor, Francky; U0014055, Goossens, M, Deman, Hj

At the highest abstraction level, the specification of a data path consists of a number of interconnected abstract building blocks, and a constraint on the minimal clock frequency. In this paper an...

Haemophilia B: database of point mutations and short additions and deletions--third edition, 1992 (1992)

Giannelli, F., Green, P.M., High, K.A., Sommer, S., Lillicrap, D.P., Ludwig, M., ...

Haemophilia B: database of point mutations and short additions and deletions--second edition (1991)

Giannelli, F., Green, P.M., High, K.A., Sommer, S., Lillicrap, D.P., Ludwig, M., ...

An efficient microcode compiler for application specific dsp processors (1990)

Goossens, M, Rabaey, J, Vandewalle, Joseph; U0009485, De Man, Hugo; U0008331

Architecture-driven synthesis techniques for vlsi implementation of dsp algorithms (1990)

De Man, Hugo; U0008331, Catthoor, Francky; U0014055, Goossens, M, Vanhoof, J, Vanmeerbergen, J, Note, S, ...

Haemophilia B: database of point mutations and short additions and deletions (1990)

Giannelli, F., Green, P. M., High, K. A., Lozier, J. N., Lillicrap, D. P., Ludwig, M., ...

A new system to produce intraoperatively custom femoral prosthesis from measurements taken during the surgical-procedure (1989)

Mulier, M, Brady, Lp, Steenhoudt, H, Cauwe, Y, Goossens, M, ...

A system has been developed that allows the surgeon to match a prosthesis to any femoral cavity. The surgeon may choose how and where it will preferentially fit. The surgeon does not have to create a...

Molecular cloning and complete primary sequence of human erythrocyte porphobilinogen deaminase (1986)

Raich, N., Romeo, P.H, Dubart, A., Beaupain, A., Cohen-Solal, M., Goossens, M.

We have cloned and sequenced a cDNA clone coding for human erythrocyte porphobilinogen deaminase. It encompasses the translated region, part of the 5− and the 3− untranslated regions. The deduced...

Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer

Overbeek, L I H, Kets, C M, Hebeda, K M, Bodmer, D, Der Looij, E Van, Willems, R, ...

The cancer risk is unknown for those families in which a microsatellite instable tumour is neither explained by MLH1 promoter methylation nor by a germline mutation in a mismatch repair (MMR) gene....

Very low prevalence of germline MSH6 mutations in hereditary non-polyposis colorectal cancer suspected patients with colorectal cancer without microsatellite instability

Kets, C M, Hebeda, K M, Wezenberg, S J, Goossens, M, Brunner, H G, ...

Hereditary non-polyposis colorectal cancer (HNPCC) is caused by mutations in one of the mismatch repair genes MLH1, MSH2, MSH6, or PMS2 and results in high-level microsatellite instability (MSI-high)...