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List of works by Marie-Laure Sobrier

20-Hydroxyecdysone induces the expression of one beta-tubulin gene in Drosophila Kc cells.

scientific article published in January 1988

20-Hydroxyecdysone regulates cytoplasmic actin gene expression in Drosophila cultured cells.

scientific article

A novel POU1F1 mutation (p.Thr168IlefsX7) associated with an early and severe form of combined pituitary hormone deficiency: functional analysis and follow-up from infancy to adulthood

scientific article published on 01 August 2011

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

scientific article

Actin gene expression is modulated by ecdysterone in a Drosophila cell line.

scientific article published on March 1983

Alu-element insertion in the homeodomain of HESX1 and aplasia of the anterior pituitary.

scientific article

Complex disease phenotype revealed by GH deficiency associated with a novel and unusual defect in the GH-1 gene

article

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

scientific article published on 7 November 2016

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

scientific article published on 06 August 2019

Defective membrane expression of human growth hormone (GH) receptor causes Laron-type GH insensitivity syndrome ⬇️

scientific article published on November 15, 1991

Ecdysterone induction of actin synthesis and polymerization in a Drosophila melanogaster cultured cell line.

scientific article published in July 1982

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

scientific article published in February 1998

Expression of a new beta tubulin subunit is induced by 20-hydroxyecdysone in Drosophila cultured cells.

scientific article published in January 1986

Factor VII gene intronic mutation in a lethal factor VII deficiency: effects on splice-site selection.

scientific article published on 3 April 2003

Functional characterization of a human POU1F1 mutation associated with isolated growth hormone deficiency: a novel etiology for IGHD

scientific journal article

In Drosophila Kc cells 20-OHE induction of the 60C beta3 tubulin gene expression is a primary transcriptional event.

scientific article published on January 1993

Molecular genetic of growth hormone resistance syndrome

scientific article

Molecular genetics of Laron-type GH insensitivity syndrome.

scientific article

Molecular genetics of growth hormone resistance syndrome

scientific article published on January 1, 1992

Molecular screening of a large cohort of Moroccan patients with congenital hypopituitarism

scientific article published on 6 February 2015

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

scientific article (publication date: June 2000)

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

scientific article published on 01 February 1997

Oriented scanning is the leading mechanism underlying 5' splice site selection in mammals

scientific article published on 20 July 2006

Pituitary Stalk Interruption Syndrome: A Clinical-Biological-Genetic Assessment of Its Pathogenesis1 ⬇️

scientific article published on October 1, 1997

Point mutations in the growth hormone receptor gene of patients with Laron syndrome

scientific article published on September 1, 1992

Screening a large pediatric cohort with GH deficiency for mutations in genes regulating pituitary development and GH secretion: Frequencies, phenotypes and growth outcomes

scientific article published on 25 September 2018

Symptomatic heterozygotes and prenatal diagnoses in a nonconsanguineous family with syndromic combined pituitary hormone deficiency resulting from two novel LHX3 mutations.

scientific article

Transcriptional profiling at the domain explains clinical overlap between imprinting disorders

scientific article published on 20 February 2019

[Molecular pathology of transcription factors implicated in the development of the anterior hypophysis]

scientific article published on 01 May 2000

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