Lista de obras - Marie-Laure Sobrier - Dominio Público Uruguay

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

artículo científico publicado en 1988

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

artículo científico publicado en 1987

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

artículo científico publicado en 1994

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

artículo científico publicado en 1983

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

artículo científico publicado en 2005

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.

artículo científico publicado en 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 ⬇️

artículo científico publicado el 15 de noviembre de 1991

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

artículo científico publicado en 1982

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

artículo científico publicado en 1998

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

artículo científico publicado en 1986

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

artículo científico publicado en 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.

artículo científico publicado en 1993

Molecular genetics of Laron-type GH insensitivity syndrome.

artículo científico publicado en 1993

Molecular genetics of growth hormone resistance syndrome

artículo científico publicado el 1 de enero de 1992

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

artículo científico publicado en 2015

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

artículo científico publicado en 2000

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

artículo científico publicado en 1997

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

artículo científico publicado en 2006

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

artículo científico publicado el 1 de octubre de 1997

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

artículo científico publicado el 1 de septiembre de 1992

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

artículo científico publicado en 2018

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

artículo científico publicado en 2012

Transcriptional profiling at the domain explains clinical overlap between imprinting disorders

scientific article published on 20 February 2019

[Molecular genetic of growth hormone resistance syndrome].

artículo científico publicado en 1991

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