M. Romey

发表

Factor IX gene mutations causing haemophilia B: comparison of SSC screening versus systematic DNA sequencing and diagnostic applications

J. Gris, M. Claustres, J. Demaille, 1994, Human Genetics.

Rapid detection of single nucleotide deletions: application to the β 6 (-A) mutation of the β-globin gene and to cystic fibrosis

M. Claustres, J. Demaille, P. Aguilar-Martinez, 1993, Human Genetics.

Complex allele [-102T>A+S549R(T>G)] is associated with milder forms of cystic fibrosis than allele S549R(T>G) alone

M. Patton, M. Claustres, D. Bozon, 1999, Human Genetics.

Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens.

M Claustres, W Lissens, X. Estivill, 1995, The New England journal of medicine.

Characterisation of a large complex intragenic re‐arrangement in the FVII gene (F7) avoiding misdiagnosis in inherited factor VII deficiency

M. Claustres, J. Schved, M. Romey, 2007, British journal of haematology.

Heterotaxia syndrome and autosomal dominant inheritance.

S. Taviaux, M. Pierpont, I. Dähnert, 1995, American journal of medical genetics.

Transcript analysis of CFTR frameshift mutations in lymphocytes using the reverse transcription-polymerase chain reaction technique and the protein truncation test

M. Claustres, T. Bienvenu, J. Demaille, 1996, Human Genetics.

Binding of serum response factor to cystic fibrosis transmembrane conductance regulator CArG-like elements, as a new potential CFTR transcriptional regulation pathway

M. Claustres, J. Demaille, M. Taulan, 2005, Nucleic acids research.

A new approach for identifying non-pathogenic mutations. An analysis of the cystic fibrosis transmembrane regulator gene in normal individuals

X. Estivill, P. Pignatti, C. Lázaro, 2000, Human Genetics.

Renal Toxicogenomic Response to Chronic Uranyl Nitrate Insult in Mice

J. Demaille, M. Taulan, M. Romey, 2004, Environmental health perspectives.

Comprehensive analysis of the renal transcriptional response to acute uranyl nitrate exposure

À. Argilés, J. Demaille, M. Taulan, 2006, BMC Genomics.

A Naturally Occurring Sequence Variation That Creates a YY1 Element Is Associated with Increased Cystic Fibrosis Transmembrane Conductance Regulator Gene Expression*

A. Mangé, M. Claustres, N. Pallares-Ruiz, 2000, The Journal of Biological Chemistry.

Novel missense mutation in the first transmembrane segment of the CFTR gene (Q98R) identified in a male adult

M. Claustres, P. Godard, J. Demaille, 1995, Human mutation.

First functional polymorphism in CFTR promoter that results in decreased transcriptional activity and Sp1/USF binding.

E. Lopez, M. Claustres, M. Taulan, 2007, Biochemical and biophysical research communications.

Direct carrier testing of haemophilia B by SSCP.

J. Gris, M. Claustres, J. Demaille, 2008, Clinical and laboratory haematology.

A novel mutation (Val‐373 to Glu) in the catalytic domain of factor IX, resulting in moderately/severe hemophilia B in a Southern French patient

J. Gris, M. Claustres, J. Demaille, 1994, Human Mutation.

Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens.

Arie, X. Estivill, atherine, 1995, The New England journal of medicine.

First putative sequence alterations in the minimal CFTR promoter region

M. Claustres, J. Demaille, M. Romey, 1999, Journal of medical genetics.