C. Verellen

发表

MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.

J. Lupski, S. Züchner, J. Vance, 2006, Brain : a journal of neurology.

The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V.

N. Verpoorten, V. Timmerman, P. de Jonghe, 2004, Brain : a journal of neurology.

The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype.

C. van Broeckhoven, J. Martín, V. Timmerman, 1999, Brain : a journal of neurology.

Mutations in GDAP1

C. van Broeckhoven, F. Palau, V. Timmerman, 2002, Neurology.

Mutations in GDAP1: Autosomal recessive CMT with demyelination and axonopathy

C. van Broeckhoven, F. Palau, V. Timmerman, 2002 .

The genetics of familial adenomatous polyposis (FAP) and MutYH-associated polyposis (MAP).

D. Franchimont, E. Van Cutsem, K. Dahan, 2011, Acta gastro-enterologica Belgica.

No significant effect of monosomy for distal 21q22.3 on the Down syndrome phenotype in "mirror" duplications of chromosome 21.

J. Lejeune, M. Rethoré, D. Theophile, 1992, American journal of human genetics.

A conserved sorting-associated protein is mutant in chorea-acanthocytosis

Adrian Danek, Nicholas W. Wood, Andrea H. Németh, 2001, Nature Genetics.

Leiomyoma of the suprarenal gland in a child with ataxia-telangiectasia.

P. Evrard, F. Mouchet, C. Vermylen, 1991, Pediatric hematology and oncology.

Temperature-sensitive mutations in the III–IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita

J. Haines, M. Pericak-Vance, J. Gusella, 1992, Cell.

Preterm Premature Rupture of Membranes in a Patient with the Hypermobility Type of the Ehlers-Danlos Syndrome

A. De Paepe, L. Nuytinck, C. Verellen, 1999, Fetal Diagnosis and Therapy.

Chorea-acanthocytosis: genetic linkage to chromosome 9q21.

M Farrall, A Danek, A. Monaco, 1997, American journal of human genetics.

Mutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type 1 and related diseases

L. Koulischer, A. Verloes, M. Meurisse, 1999, Human mutation.

Tibial muscular dystrophy in a Belgian family

Olivier Bouquiaux, Bjarne Udd, Isabelle Richard, 2003, Annals of neurology.

[Deletion of the long arm of chromosome 18, primary hypothyroidism, Biermer's anemia and IgM hypogammaglobulinemia].

C. Vermylen, G. Cornu, J. Ninane, 1989, Archives francaises de pediatrie.

X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males.

H. Smeets, J. Jais, M. Sanak, 2000, Journal of the American Society of Nephrology : JASN.

Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome

P. Bergh, N. Verpoorten, V. Timmerman, 2004, Nature Genetics.

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.