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List of works by Marie-Laure Kottler

A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B).

scientific article published on 13 January 2017

A case of complete hypogonadotropic hypogonadism with a mutation in the gonadotropin-releasing hormone receptor gene.

scientific article

A maternal epimutation of GNAS leads to Albright osteodystrophy and parathyroid hormone resistance.

scientific article published on 8 January 2008

A new FSHbeta mutation in a 29-year-old woman with primary amenorrhea and isolated FSH deficiency: functional characterization and ovarian response to human recombinant FSH.

scientific article

A new deletion ablating NESP55 causes loss of maternal imprint of A/B GNAS and autosomal dominant pseudohypoparathyroidism type Ib

scientific article

Aromatase gene expression and regulation in the female rat pituitary

scientific article published in July 2006

Calcium pyrophosphate deposition disease revealing a hypersensitivity to vitamin D.

scientific article published on 18 January 2017

De novo 15q13.3 microdeletion with cryptogenic West syndrome

scientific article published on 08 August 2013

Diagnosis and management of congenital hypothyroidism associated with pseudohypoparathyroidism

scientific article published on 09 January 2015

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement

article by Giovanna Mantovani et al published August 2018 in Nature Reviews Endocrinology

Distinct mRNA, protein expression patterns and distribution of oestrogen receptors alpha and beta in human primary breast cancer: correlation with proliferation marker Ki-67 and clinicopathological factors

scientific article

Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency.

scientific article

Expression of estrogen receptors in the pelvic floor of pre- and post-menopausal women presenting pelvic organ prolapse

scientific article published on 01 January 2011

Familial Medullary Thyroid Carcinoma with Noncysteine RET Mutations: Phenotype-Genotype Relationship in a Large Series of Patients

article published in 2001

GNAS1 lesions in pseudohypoparathyroidism Ia and Ic: genotype phenotype relationship and evidence of the maternal transmission of the hormonal resistance

article

Genetic Diseases of Vitamin D Metabolizing Enzymes

scientific article published on 5 October 2017

Genetic and epigenetic defects at the GNAS locus lead to distinct patterns of skeletal growth but similar early-onset obesity

scientific article published on 25 April 2018

Genotype-Phenotype Relationship in Patients and Relatives with SHOX Region Anomalies in the French Population

scientific article published on 28 September 2016

GnRH deficiency: new insights from genetics

scientific article

Gonadotropin-releasing hormone and the control of gonadotrope function

scientific article

High frequency of paternal iso or heterodisomy at chromosome 20 associated with sporadic pseudohypoparathyroidism 1B

scientific article published on 21 March 2019

Hypercalcemia and inactive mutation of CYP24A1. Case-study and literature review

scientific article

Hyperparathyroidism complicating CYP 24A1 mutations

scientific article published in July 2016

Identification by array-Comparative Genomic Hybridization (array-CGH) of a large deletion of luteinizing hormone receptor gene combined with a missense mutation in a patient diagnosed with a 46,XY disorder of sex development and application to prena

scientific article published on 30 June 2011

Improved Screening Test for Idiopathic Infantile Hypercalcemia Confirms Residual Levels of Serum 24,25-(OH)2 D3 in Affected Patients

scientific article published on 17 March 2017

Is vitamin D a key factor in muscle health?

scientific article

Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2

scientific article published on 20 October 2006

KiSS-1 and GPR54 at the pituitary level: overview and recent insights

scientific article

Kidney function and influence of sunlight exposure in patients with impaired 24-hydroxylation of vitamin D due to CYP24A1 mutations.

scientific article published on 4 November 2014

Lightwood Syndrome Revisited with a Novel Mutation in CYP24 and Vitamin D Supplement Recommendations ⬇️

scientific article published on June 14, 2013

Lipoprotein lipase activity and common gene variants in severely hypertriglyceridemic patients with and without diabetes

scientific article published in January 2003

Loss of methylation at GNAS exon A/B is associated with increased intrauterine growth

scientific article

Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome

scientific article published on 10 March 2003

Major hyperestrogenism in a feminizing adrenocortical adenoma despite a moderate overexpression of the aromatase enzyme

scientific article published in April 2003

Maternal Transmission Ratio Distortion of GNAS Loss-of-Function Mutations

scientific article published on 30 December 2019

Molecular characterization of a recurrent 10.9 kb CYP24A1 deletion in Idiopathic Infantile Hypercalcemia

scientific article published on 10 November 2018

Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis

scientific article

Paternal GNAS mutations lead to severe intrauterine growth retardation (IUGR) and provide evidence for a role of XLαs in fetal development.

scientific article published on 24 July 2013

Paternal deletion of the GNAS imprinted locus (including Gnasxl) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties

scientific article

Primary amenorrhea in a young Polish woman with complete androgen insensitivity syndrome and Sertoli-Leydig cell tumor: identification of a new androgen receptor gene mutation and evidence of aromatase hyperactivity and apoptosis dysregulation withi

scientific article published in September 2007

Pseudohypoparathyroidism type 1B associated with assisted reproductive technology.

scientific article

Resistance to epinephrine and hypersensitivity (hyperresponsiveness) to CB1 antagonists in a patient with pseudohypoparathyroidism type Ic.

scientific article published on 14 January 2010

Spontaneous pregnancy in a patient who was homozygous for the Q106R mutation in the gonadotropin-releasing hormone receptor gene

scientific article

Supernumerary marker chromosomes management in prenatal diagnosis

scientific article published on 01 November 2008

TSH elevations as the first laboratory evidence for pseudohypoparathyroidism type Ib (PHP-Ib)

scientific article

The LIM-homeodomain proteins Isl-1 and Lhx3 act with steroidogenic factor 1 to enhance gonadotrope-specific activity of the gonadotropin-releasing hormone receptor gene promoter

scientific journal article

The expression of aromatase in gonadotropes is regulated by estradiol and gonadotropin-releasing hormone in a manner that differs from the regulation of luteinizing hormone.

scientific article published on 8 June 2006

The first familial case of inherited 2q37.3 interstitial deletion with isolated skeletal abnormalities including brachydactyly type E and short stature

scientific article published on 17 November 2014

The significance of the expression of ERRalpha as a potential biomarker in breast cancer

scientific article published on 24 December 2008

Vitamin D-Dependent Rickets Type 1B (25-Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition?

scientific article published on 26 May 2017

[Paternal GNAS mutations: Which phenotypes? What genetic counseling?]

scientific article published on 04 May 2015

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