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List of works by Pierre Bougnères

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Variation in FTO contributes to childhood obesity and severe adult obesity

scientific article
Hematopoietic stem cell gene therapy with a lentiviral vector in X-linked adrenoleukodystrophy

scientific article
Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism.

scientific article published on 21 May 2006
Towards a new developmental synthesis: adaptive developmental plasticity and human disease

scientific article published on May 2009
Non-synonymous polymorphisms in melanocortin-4 receptor protect against obesity: the two facets of a Janus obesity gene

article
A common polymorphism of the growth hormone receptor is associated with increased responsiveness to growth hormone.

scientific article
XPG and XPF endonucleases trigger chromatin looping and DNA demethylation for accurate expression of activated genes

scientific article
Adeno-associated virus gene therapy with cholesterol 24-hydroxylase reduces the amyloid pathology before or after the onset of amyloid plaques in mouse models of Alzheimer's disease

scientific article
Recurrent PRKAR1A mutation in acrodysostosis with hormone resistance

scientific article (publication date: 9 June 2011)
PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance

scientific article published on 5 October 2012
Lentiviral hematopoietic cell gene therapy for X-linked adrenoleukodystrophy

scientific article published in January 2012
Global epidemiology of type 1 diabetes in young adults and adults: a systematic review

scientific article published on March 17, 2015
Molecular genetics of human obesity-associated MC4R mutations

scientific article
Association of the CpG methylation pattern of the proximal insulin gene promoter with type 1 diabetes

scientific article (publication date: 2012)
Human Prop-1: cloning, mapping, genomic structure. Mutations in familial combined pituitary hormone deficiency

scientific article
The human MC4R promoter: characterization and role in obesity

scientific article published in December 2003
A homozygous null mutation delineates the role of the melanocortin-4 receptor in humans

scientific article
The common -866 G/A polymorphism in the promoter of uncoupling protein 2 is associated with increased carbohydrate and decreased lipid oxidation in juvenile obesity.

scientific article published in January 2004
Endocrine manifestations of the rapid-onset obesity with hypoventilation, hypothalamic, autonomic dysregulation, and neural tumor syndrome in childhood

scientific article
Genetics of obesity and type 2 diabetes: tracking pathogenic traits during the predisease period

scientific article
Weight-adjusted genome scan analysis for mapping quantitative trait Loci for menarchal age.

scientific article published on 27 June 2006
Causes of early-onset type 1 diabetes: toward data-driven environmental approaches

scientific article
Delineation of Late Onset Hypoventilation Associated with Hypothalamic Dysfunction Syndrome

T2DM: Why Epigenetics?

scientific article published on 3 November 2011
Vitamin D-resistant rickets and type 1 diabetes in a child with compound heterozygous mutations of the vitamin D receptor (L263R and R391S): dissociated responses of the CYP-24 and rel-B promoters to 1,25-dihydroxyvitamin D3

scientific article published on 01 June 2006
D3 GH receptor polymorphism is not associated with IGF1 levels in untreated acromegaly.

scientific article published on 13 May 2009
Prepubertal gynecomastia in Peutz-Jeghers syndrome: incomplete penetrance in a familial case and management with an aromatase inhibitor

scientific article published in February 2006
Growth hormone receptor polymorphism and growth hormone therapy response in children: a Bayesian meta-analysis

scientific article published on 10 April 2012
Increased insulin resistance in obese children who have both 972 IRS-1 and 1057 IRS-2 polymorphisms

scientific article published on 01 December 2002
CpG methylation changes within the IL2RA promoter in type 1 diabetes of childhood onset

scientific article
Growth and descent of the testes in infants with hypogonadotropic hypogonadism receiving subcutaneous gonadotropin infusion

scientific article published on 4 July 2016
The IGF1 P2 promoter is an epigenetic QTL for circulating IGF1 and human growth.

scientific article
A single-nucleotide polymorphism in a methylatable Foxa2 binding site of the G6PC2 promoter is associated with insulin secretion in vivo and increased promoter activity in vitro

scientific article
Association analysis indicates that a variant GATA-binding site in the PIK3CB promoter is a Cis-acting expression quantitative trait locus for this gene and attenuates insulin resistance in obese children

scientific article published on 31 October 2007
Genome-Wide Methylation Analysis Identifies Specific Epigenetic Marks In Severely Obese Children

scientific article published on 07 April 2017
Impaired sexual activity in male adults with partial androgen insensitivity

scientific article (publication date: September 2006)
Near normalization of adult height and body proportions by growth hormone in pycnodysostosis

scientific article
Long-term results of continuous subcutaneous recombinant PTH (1-34) infusion in children with refractory hypoparathyroidism

scientific article published on 24 August 2011
Genetic Study of the Melanin-Concentrating Hormone Receptor 2 in Childhood and Adulthood Severe Obesity

article by Maya Ghoussaini et al published November 2007 in The Journal of Clinical Endocrinology and Metabolism
A randomized pilot trial of growth hormone with anastrozole versus growth hormone alone, starting at the very end of puberty in adolescents with idiopathic short stature

scientific article published on 16 February 2015
Gonadotrophic status in adolescents with pituitary stalk interruption syndrome

scientific article published on 01 July 2008
Quantitative trait loci for fasting glucose in young Europeans replicate previous findings for type 2 diabetes in 2q23-24 and other locations

scientific article published on 6 April 2007
Gene therapy of x-linked adrenoleukodystrophy using hematopoietic stem cells and a lentiviral vector

scientific article published on February 2010
Heterogeneity of class I INS VNTR allele association with insulin secretion in obese children

scientific article published on 28 March 2006
Prenatal loss of father during World War One is predictive of a reduced lifespan in adulthood

scientific article published on 4 April 2017
Identification of distinct quantitative trait Loci affecting length or weight variability at birth in humans

scientific article published on 18 July 2006
INS VNTR is a QTL for the insulin response to oral glucose in obese children.

scientific article
Primordial Influence of Post-operative Compliance on Weight Loss After Adolescent Laparoscopic Adjustable Gastric Banding

scientific article published on 11 June 2015
Deferring surgical treatment of ambiguous genitalia into adolescence in girls with 21-hydroxylase deficiency: a feasibility study

scientific article published on 28 January 2017
Higher methylation of the IGF1 P2 promoter is associated with idiopathic short stature

scientific article published on 03 September 2015

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