Josiane Martin

发表

Molecular characterization of the cystic fibrosis transmembrane conductance regulator gene in congenital absence of the vas deferens

M. Sousa, E. Girodon, A. Barros, 2007, Genetics in Medicine.

A comprehensive scanning method for rapid detection of β‐globin gene mutations and polymorphisms

M. Vidaud, E. Girodon, M. Goossens, 1992, Human mutation.

BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects

L. Biesecker, J. Johnston, A. Verloes, 2009, European Journal of Human Genetics.

Effect of tocilizumab on clinical outcomes at 15 days in patients with severe or critical coronavirus disease 2019: randomised controlled trial

Á. Avezum, R. Lopes, P. Scheinberg, 2021, BMJ.

Comprehensive description of CFTR genotypes and ultrasound patterns in 694 cases of fetal bowel anomalies: a revised strategy

E. Girodon, M. Goossens, C. Alberti, 2011, Human Genetics.

Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling.

E. Girodon, M. Goossens, M. Legendre, 2007, Human reproduction.

Human p-Globin GenePolymorphisms Characterized inDNA Extracted fromAncientBones12,000 YearsOld

N. Maroc, R. Roubin, Josiane Martin, 1995 .

HFE genotyping by amplification refractory mutation system-denaturing HPLC.

Lam Huynh, M. Goossens, S. Pissard, 2002, Clinical chemistry.

Sickle cell hemoglobin fiber formation strongly inhibited by the stanleyville II mutation (α78 Asn → Lys)

S. Edelstein, Y. Blouquit, J. Rosa, 1983 .

Three point mutations in the CFTR gene in French cystic fibrosis patients: Identification by denaturing gradient gel electrophoresis

M. Vidaud, M. Goossens, N. Ghanem, 1990, Human Genetics.

CFTR Gene Mutations in Adults with Disseminated Bronchiectasis

B. Housset, C. Cazeneuve, F. Lebargy, 1997, European journal of human genetics : EJHG.

Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions.

M. Vidaud, M. Goossens, N. Ghanem, 1992, Genomics.

Multiplex allele-specific fluorescent PCR for haplotyping the IVS8 (TG)m(T)n locus in the CFTR gene.

E. Girodon, M. Goossens, Jean‐Marc Costa, 2008, Clinical chemistry.

Triose phosphate isomerase deficiency in 3 French families: two novel null alleles, a frameshift mutation (TPI Alfortville) and an alteration in the initiation codon (TPI Paris).

M. Mayer, D. Heron, C. Valentin, 2000, Blood.

Soluble CD137 as a potential biomarker for severe COVID-19

A. Abdo, Josiane Martin, Amilton Silva Júnior, 2022, Immunology Letters.

Notable contribution of large CFTR gene rearrangements to the diagnosis of cystic fibrosis in fetuses with bowel anomalies

E. Girodon, M. Goossens, M. Legendre, 2010, European Journal of Human Genetics.

BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects

L. Biesecker, J. Johnston, A. Verloes, 2009, European Journal of Human Genetics.