H. Hofmann-Radvanyi

发表

MBNL1 gene variants as modifiers of disease severity in myotonic dystrophy type 1

L. Buée, F. Vasseur, P. Devos, 2013, Journal of Neurology.

No evidence of somatic FGFR3 mutation in various types of carcinoma

J. Thiery, F. Radvanyi, E. Brambilla, 2001, Oncogene.

Myotonic dystrophy: size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism.

C. Junien, C. Lavedan, Johnson, 1993, American journal of human genetics.

Loss of heterozygosity on 10q and mutational status of PTEN and BMPR1A in colorectal primary tumours and metastases

J. Thiery, C. Boulard, F. Radvanyi, 2004, British Journal of Cancer.

Identification in Daily Practice of Patients With Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer): Revised Bethesda Guidelines-Based Approach Versus Molecular Screening

F. Radvanyi, P. Laurent-Puig, B. Nordlinger, 2008, The American Journal of Gastroenterology.

Transgenic mice carrying large human genomic sequences with expanded CTG repeat mimic closely the DM CTG repeat intergenerational and somatic instability.

C. Junien, G. Gourdon, H. Hofmann-Radvanyi, 2000, Human molecular genetics.

Somatic instability of the CTG repeat in mice transgenic for the myotonic dystrophy region is age dependent but not correlated to the relative intertissue transcription levels and proliferative capacities.

C. Junien, F. Radvanyi, G. Gourdon, 1998, Human molecular genetics.

Myotonic dystrophy: absence of CTG enlarged transcript in congenital forms, and low expression of the normal allele.

C. Junien, C. Lavedan, J. Rabès, 1993, Human molecular genetics.

Different sex-dependent constraints in CTG length variation as explanation for congenital myotonic dystrophy

C. Junien, J. Roume, C. Lavedan, 1993, The Lancet.

French myotonic dystrophy families show expansion of a CTG repeat in complete linkage disequilibrium with an intragenic 1 kb insertion.

C. Bonaïti‐pellié, C. Boileau, C. Lavedan, 1994, Journal of medical genetics.

Specific tau variants in the brains of patients with myotonic dystrophy

A. Delacourte, A. Wattez, P. Vermersch, 1996, Neurology.

Evaluation of predictive models in daily practice for the identification of patients with Lynch syndrome

F. Radvanyi, P. Laurent-Puig, B. Nordlinger, 2012, International journal of cancer.

Myotonic dystrophy: Over-expression or/and under-expression? A critical review on a controversial point

C. Junien, H. Hofmann-Radvanyi, 1993, Neuromuscular Disorders.