L. Vits

发表

Identification of novel and recurrent glucokinase mutations in Belgian and Luxembourg maturity onset diabetes of the young patients

C. de Beaufort, Raoul Rooman, C. Mathieu, 2006, Clinical genetics.

A point mutation in the FMR-1 gene associated with fragile X mental retardation

Edwin Reyniers, Ben A. Oostra, B. Oostra, 1993, Nature Genetics.

Evidence for somatic and germline mosaicism in CRASH syndrome

D. Chitayat, E. Fransen, P. Willems, 1998, Human mutation.

X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene.

E. Fransen, P. Willems, P. Coucke, 1994, Human molecular genetics.

Positional cloning of a gene involved in hereditary multiple exostoses.

B. D. de Vries, N. Nowak, T. Shows, 1996, Human molecular genetics.

Evidence for Somatic and Germhe Mosaicism in ynarome

D. Chitayat, E. Fransen, P. Willems, 1998 .

An optimized DHPLC protocol for molecular testing of the EXT1 and EXT2 genes in hereditary multiple osteochondromas

W. Wuyts, L. Vits, K. Storm, 2005, Clinical genetics.

The clinical spectrum of mutations in L1, a neuronal cell adhesion molecule.

E. Fransen, P. Willems, G. Van Camp, 1996, American journal of medical genetics.

Linkage of DNA markers at Xq28 to adrenoleukodystrophy and adrenomyeloneuropathy present within the same family.

G. Dacremont, R. Wanders, R. Schutgens, 1990, Archives of neurology.

DNA Diagnosis of Cystic Fibrosis by Direct Detection of the Af508 Mutation.

P. Willems, P. Coucke, L. Vits, 1991, Acta clinica Belgica.

CRASH Syndrome: Clinical Spectrum of Corpus Callosum Hypoplasia, Retardation, Adducted Thumbs, Spastic Paraparesis and Hydrocephalus Due to Mutations in One Single Gene, L1

Vance Lemmon, Paul Coucke, Erik Fransen, 1995, European journal of human genetics : EJHG.

The full mutation in the FMR–1 gene of male fragile X patients is absent in their sperm

B. Oostra, J. Darby, A. Verkerk, 1993, Nature Genetics.

DXS89 (pTAK10) detects a homologous sequence on the Y chromosome.

P. Willems, L. Vits, J. Hendrickx, 1992, Genomics.

A new neurological syndrome with mental retardation, choreoathetosis, and abnormal behavior maps to chromosome Xp11.

R. Kooy, E. Fransen, P. van Bogaert, 1999, American journal of human genetics.

Genotype-phenotype correlation in L1 associated diseases.

R. D'Hooge, E. Fransen, P. Willems, 1998, Journal of medical genetics.

MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM

Golder N Wilson, A. Poustka, B. Korn, 1994, Nature Genetics.

Gonosomal mosaicism in myotonic dystrophy patients: involvement of mitotic events in (CTG)n repeat variation and selection against extreme expansion in sperm.

H. Smeets, B. Wieringa, P. Willems, 1994, American journal of human genetics.

A locus‐specific mutation database for the neural cell adhesion molecule L1CAM (Xq28)

G Van Camp, E Fransen, E. Fransen, 1996, Human mutation.

A duplication in the L1CAM gene associated with X–linked hydrocephalus

A. Munnich, J. Darby, S. Lyonnet, 1993, Nature Genetics.

Further localization of X-linked hydrocephalus in the chromosomal region Xq28.

S. Warren, C. Broeckhoven, B. Wittwer, 1992, American journal of human genetics.

Assignment of X-linked hydrocephalus to Xq28 by linkage analysis.

S. Warren, C. van Broeckhoven, G. Consalez, 1990, Genomics.

CAG repeat contraction in the androgen receptor gene in three brothers with mental retardation.

R. Kooy, A. De Paepe, A. Brinkmann, 1999, American journal of medical genetics.

L1-associated diseases: clinical geneticists divide, molecular geneticists unite.

E. Fransen, P. Willems, G. Van Camp, 1997, Human molecular genetics.

Identification of a 5' splice site mutation in intron 4 of the L1CAM gene in an X-linked hydrocephalus family.

A. Munnich, A. Rosenthal, S. Kenwrick, 1994, Human molecular genetics.

Founder effect in a Belgian-Dutch fragile X population

B. Oostra, F. Wuyts, D. Halley, 1993, Human Genetics.

Apparent regression of the CGG repeat in FMR1 to an allele of normal size

B. Oostra, J. Darby, P. Willems, 1994, Human Genetics.

Mapping of the gene for X-linked liver glycogenosis due to phosphorylase kinase deficiency to human chromosome region Xp22.

R. Berger, C. van Broeckhoven, P. Willems, 1991, Genomics.

Two brothers with mental retardation discordant for the fragile-X syndrome.

B. Ceulemans, P. Willems, P. Coucke, 1990, American journal of medical genetics.

Genotype-phenotype correlation in Li associated diseases

R. D'Hooge, E. Fransen, P. Willems, 2022 .

Frequency of the phenylalanine deletion (ΔF508) in the CF gene of Belgian cystic fibrosis patients

P. Willems, P. Coucke, L. Vits, 1991, Clinical genetics.

Localization of a gene responsible for nonspecific mental retardation (MRX9) to the pericentromeric region of the X chromosome.

B. Ceulemans, C. van Broeckhoven, P. Raeymaekers, 1993, Genomics.

High incidence of the CFTR mutations 3272-26A-->G and L927P in Belgian cystic fibrosis patients, and identification of three new CFTR mutations (186-2A-->G, E588V, and 1671insTATCA).

M. Nöthen, W. Wuyts, K. Desager, 2007, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Segregation of the fragile X mutation from an affected male to his normal daughter.

A. Verkerk, E. Reyniers, L. Vits, 1992, Human molecular genetics.