B. Duriez

发表

Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation.

H. Omran, M. Hazucha, S. Amselem, 2006, American journal of respiratory and critical care medicine.

Replication dynamics of individual loci in single living cells reveal variation of stochasticity

M. Prioleau, J. Bercher, B. Duriez, 2018, bioRxiv.

Clustering of strong replicators associated with active promoters is sufficient to establish an early‐replicating domain

M. Laurent, J. Dekker, Sergey V. Venev, 2020, The EMBO journal.

Strong replicators associated with open chromatin are sufficient to establish an early replicating domain

M. Laurent, M. Prioleau, B. Duriez, 2018, bioRxiv.

Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia.

S. Amselem, A. Clément, M. Goossens, 1999, American journal of human genetics.

Alternatively spliced forms in the cytoplasmic domain of the human growth hormone (GH) receptor regulate its ability to generate a soluble GH-binding protein.

S. Amselem, M. Goossens, P. Duquesnoy, 1996, Proceedings of the National Academy of Sciences of the United States of America.

An exon‐skipping mutation in thebtk gene of a patient with X‐linked agammaglobulinemia and isolated growth hormone deficiency

S. Amselem, P. Bougnères, M. Goossens, 1994, FEBS letters.

Molecular basis of inherited growth hormone resistance in childhood.

S. Amselem, M. Goossens, P. Duquesnoy, 1996, Bailliere's clinical endocrinology and metabolism.

A Heterozygous Mutation Disrupting the SPAG16 Gene Results in Biochemical Instability of Central Apparatus Components of the Human Sperm Axoneme1

S. Amselem, Zhibing Zhang, J. Strauss, 2007, Biology of reproduction.

Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4

M. Goossens, N. Loundon, B. Duriez, 2012, European Journal of Human Genetics.

Isolation and expression of the human hPF20 gene orthologous to Chlamydomonas PF20: evaluation as a candidate for axonemal defects of respiratory cilia and sperm flagella.

S. Amselem, E. Escudier, A. Bridoux, 2002, American journal of respiratory cell and molecular biology.

Instability of Mature ABCA3 Protein: Toward a New Classification of ABCA3 Mutations?

S. Simon, R. Epaud, B. Duriez, 2022, American journal of respiratory cell and molecular biology.

Expression and binding properties of two isoforms of the human growth hormone receptor

S. Amselem, M. Goossens, P. Duquesnoy, 1993, FEBS letters.

Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency

A. Grüters, H. Krude, S. Amselem, 2000, Nature Genetics.

A single amino acid substitution in the exoplasmic domain of the human growth hormone (GH) receptor confers familial GH resistance (Laron syndrome) with positive GH‐binding activity by abolishing receptor homodimerization.

M. Preece, S. Amselem, M. Savage, 1994, The EMBO journal.

A naturally occurring growth hormone receptor mutation: in vivo and in vitro evidence for the functional importance of the WS motif common to all members of the cytokine receptor superfamily.

S. Amselem, M. Tixier-Boichard, M. Zeman, 1993, Molecular endocrinology.

A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia

S. Amselem, J. Bercher, D. Escalier, 2007, Proceedings of the National Academy of Sciences.

Epigenetic Regulation of Replication and Replication Timing

Anne-Laure Valton, M. Prioleau, B. Duriez, 2017 .

SPECTRUM OF GROWTH HORMONE RECEPTOR MUTATIONS AND ASSOCIATED HAPLOTYPES IN LARON SYNDROME

S. Amselem, M. Goossens, P. Duquesnoy, 1993, Pediatric Research.

[Molecular genetics of growth hormone resistance syndrome].

S. Amselem, M. Goossens, P. Duquesnoy, 1992, Comptes rendus des seances de la Societe de biologie et de ses filiales.

Promoters are key organizers of the duplication of vertebrate genomes

Anne-Laure Valton, M. Prioleau, B. Duriez, 2021, BioEssays : news and reviews in molecular, cellular and developmental biology.

Replication dynamics of individual loci in single living cells reveal changes in the degree of replication stochasticity through S phase

M. Prioleau, J. Bercher, B. Duriez, 2019, Nucleic acids research.

Computer-assisted analysis helps detect inner dynein arm abnormalities.

André Coste, Estelle Escudier, F. Roudot-thoraval, 2002, American journal of respiratory and critical care medicine.

RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa

A. Moore, S. Amselem, A. Clément, 2005, Journal of Medical Genetics.

MOLECULAR ANALYSIS OF TWO FAMILIES WITH LARON SYNDROME AND POSITIVE GROWTH HORMONE BINDING PROTEIN

S. Amselem, M. Savage, M. Goossens, 1993, Pediatric Research.

Isolation of several human axonemal dynein heavy chain genes: genomic structure of the catalytic site, phylogenetic analysis and chromosomal assignment

S. Amselem, M. Goossens, E. Escudier, 1997, FEBS letters.

The human dynein intermediate chain 2 gene (DNAI2): cloning, mapping, expression pattern, and evaluation as a candidate for primary ciliary dyskinesia

S. Amselem, M. Goossens, E. Escudier, 2000, Human Genetics.