F. Dastot

发表

Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia

M. Filoche, S. Amselem, A. Clément, 2019, Journal of Medical Genetics.

Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia

A. Rousseau, S. Amselem, H. Dollfus, 2012, Journal of Medical Genetics.

Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia

A. Rousseau, S. Amselem, A. Clément, 2012, Journal of Medical Genetics.

Phenotype: genotype relationships in growth hormone insensitivity syndrome.

M. Preece, S. Amselem, M. Ranke, 1997, The Journal of clinical endocrinology and metabolism.

The human growth hormone (GH) receptor and its truncated isoform: sulfhydryl group inactivation in the study of receptor internalization and GH-binding protein generation.

Z. Hochberg, S. Amselem, M. Youdim, 1999, Endocrinology.

Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia.

S. Amselem, A. Loyens, A. Schmitt, 2019, American journal of human genetics.

Heterozygous mutation in the WSXWS equivalaent motif of the growth hormone receptor in a child with poor response to growth hormone therapy.

S. Amselem, E. Bieth, C. Molinas, 1998, Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society.

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.

Evolutionary divergence of the truncated growth hormone receptor isoform in its ability to generate a soluble growth hormone binding protein

S. Amselem, M. Goossens, P. Duquesnoy, 1998, Molecular and Cellular Endocrinology.

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 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.

Extensive phenotypic analysis of a family with growth hormone (GH) deficiency caused by a mutation in the GH-releasing hormone receptor gene.

S. Amselem, M. Goossens, I. Netchine, 1998, The Journal of clinical endocrinology and metabolism.

TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella.

V. Drouin‐Garraud, A. Tassin, S. Amselem, 2020, American journal of human genetics.

Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations

P. Chanson, M. Polak, S. Lyonnet, 2019, Human mutation.

A membrane-fixed, truncated isoform of the human growth hormone receptor.

Z. Hochberg, S. Amselem, M. Youdim, 1997, The Journal of clinical endocrinology and metabolism.

Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated Patients

D. Larizza, M. Maghnie, M. Polak, 2016, The Journal of clinical endocrinology and metabolism.

Nine novel growth hormone receptor gene mutations in patients with Laron syndrome.

S. Amselem, M. Goossens, P. Duquesnoy, 1997, The Journal of clinical endocrinology and metabolism.

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.

Mutations in familial combined pituitary hormone de¢ciency 1

S. Amselem, M. Goossens, P. Duquesnoy, 1998 .

Human Prop‐1: cloning, mapping, genomic structure

C. Teinturier, S. Amselem, J. Chaussain, 1998, FEBS letters.

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

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

Intronic Mutation in the Growth Hormone (GH) Receptor Gene from a Girl with Laron Syndrome and Extremely High Serum GH Binding Protein: Extended Phenotypic Study in a Very Large Pedigree

S. Amselem, H. Kanety, R. Eshet, 1997, Journal of pediatric endocrinology & metabolism : JPEM.

Contribution of GHR and IGFALS Mutations to Growth Hormone Resistance - Identification of New Variants and Impact on the Inheritance Pattern

M. Polak, S. Amselem, P. Crock, 2016 .