M. Goossens

发表

NF1 gene analysis focused on CpG‐rich exons in a cohort of 93 patients with neurofibromatosis type 1

D. Vidaud, E. G. Boulandet, J. Pantel, 2000, Human mutation.

Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3′ exons of TACSTD1

Suet Yi Leung, Han G Brunner, Tsun Leung Chan, 2009, Nature Genetics.

Somatic mutations in MLH1 and MSH2 are a frequent cause of mismatch-repair deficiency in Lynch syndrome-like tumors.

I. Nagtegaal, M. Ligtenberg, M. Goossens, 2014, Gastroenterology.

Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study.

Julie O. Culver, L. Kiemeney, M. Kloor, 2011, The Lancet. Oncology.

Germline epigenetic silencing of the tumor suppressor gene PTPRJ in early-onset familial colorectal cancer.

I. Tomlinson, L. Vreede, A. V. van Kessel, 2010, Gastroenterology.

Connexin 32 promoter P2 mutations: A mechanism of peripheral nerve dysfunction

O. Cockerell, N. Wood, H. Houlden, 2004, Clinical Neurophysiology.

A dimorphic 4-bp repeat in the cystic fibrosis gene is in absolute linkage disequilibrium with the delta F508 mutation: implications for prenatal diagnosis and mutation origin.

Goossens, H. Erlich, M. Goossens, 1991, American journal of human genetics.

Comprehensive Cystic Fibrosis Mutation Epidemiology and Haplotype Characterization in a Southern Italian Population

V. Raia, C. Cazeneuve, M. Goossens, 2005, Annals of Human Genetics.

Compound heterozygosity for two MSH2 mutations suggests mild consequences of the initiation codon variant c.1A>G of MSH2

H. Brunner, M. Ligtenberg, M. Goossens, 2009, European Journal of Human Genetics.

TRPV5 gene polymorphisms in renal hypercalciuria.

P. Houillier, M. Goossens, J. Hoenderop, 2009, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Two novel mutations responsible for hereditary type I protein C deficiency: Characterization by denaturing gradient gel electrophoresis

M. Vidaud, M. Goossens, J. Fiessinger, 1992, Human mutation.

Screening for non-delta F508 mutations in five exons of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in Italy.

M. Devoto, M. Goossens, M. Ferrari, 1991, American journal of human genetics.

Effects of chemical chaperones on partially retarded NaCl cotransporter mutants associated with Gitelman's syndrome in a mouse cortical collecting duct cell line.

M. Goossens, L. P. Van den Heuvel, N. Knoers, 2004, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Mutations in the p53 gene in myelodysplastic syndromes.

R. Berger, P. Fenaux, M. Goossens, 1991, Oncogene.

Exhaustive analysis of the P53 gene coding sequence by denaturing gradient gel electrophoresis: Application to the detection of point mutations in acute leukemias

M. Goossens, P. Jonveaux, O. Tournilhac, 1994, Human mutation.

Scanning method to establish the molecular basis of protein C deficiencies

M. Goossens, M. Aiach, S. Gandrille, 1994, Human mutation.

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

H. Brunner, M. Ligtenberg, M. Goossens, 2006, British Journal of Cancer.

Reduced humoral immune response after BNT162b2 coronavirus disease 2019 messenger RNA vaccination in cancer patients under antineoplastic treatment

G. Vanhoutte, P. V. van Dam, M. Goossens, 2021, ESMO Open.

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.

M. Goossens, B. Nilius, G. Droogmans, 1998, The Journal of clinical investigation.

Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene.

J. Mandel, M. Goossens, M. Goossens, 1994, The Journal of clinical investigation.

Recurrence and variability of germline EPCAM deletions in Lynch syndrome

Julie O. Culver, M. Kloor, P. Hutter, 2011, Human mutation.

EMAST Is Associated with a Poor Prognosis in Microsatellite Instable Metastatic Colorectal Cancer

I. Nagtegaal, C. Punt, M. Ligtenberg, 2015, PloS one.

Partial purification of the pig kidney cystic fibrosis transmembrane regulator protein.

M. Goossens, A. Edelman, J. Fritsch, 1996, Comptes rendus de l'Academie des sciences. Serie III, Sciences de la vie.

Detection of five rare cystic fibrosis mutations peculiar to Southern Italy: implications in screening for the disease and phenotype characterization for patients with homozygote mutations.

V. Raia, C. Cazeneuve, M. Goossens, 1999, Clinical chemistry.

A nonsense mutation (R1158X) and a splicing mutation (3849 + 4A----G) in exon 19 of the cystic fibrosis transmembrane conductance regulator gene.

M. Devoto, M. Goossens, M. Ferrari, 1992, Genomics.

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

H. Brunner, M. Ligtenberg, M. Goossens, 2007, British Journal of Cancer.

Safety and immunogenicity of a reduced dose of the BNT162b2 mRNA COVID-19 vaccine (REDU-VAC): A single blind, randomized, non-inferiority trial

M. Goossens, L. Heyndrickx, F. Chaumont, 2022, medRxiv.