Search filters

List of works by Nicolas Richard

A multicenter blinded study evaluating EGFR and KRAS mutation testing methods in the clinical non-small cell lung cancer setting--IFCT/ERMETIC2 Project Part 1: Comparison of testing methods in 20 French molecular genetic National Cancer Institute pl

scientific article published on 30 October 2013

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

An apoptosis methylation prognostic signature for early lung cancer in the IFCT-0002 trial

scientific article published on 20 March 2012

Array CGH analysis in high-risk pregnancies: comparing DNA from cultured cells and cell-free fetal DNA

scientific article published on 24 October 2011

CYP24A1 Mutations in a Cohort of Hypercalcemic Patients: Evidence for a Recessive Trait.

scientific article

Clinical Relevance of EGFR- or KRAS-mutated Subclones in Patients With Advanced Non-small-cell Lung Cancer Receiving Erlotinib in a French Prospective Cohort (IFCT ERMETIC2 Cohort - Part 2)

scientific article published on 19 December 2018

Cost-effectiveness of three strategies for second-line erlotinib initiation in nonsmall-cell lung cancer: the ERMETIC study part 3.

scientific article

Cross-Validation Study for Epidermal Growth Factor Receptor and KRAS Mutation Detection in 74 Blinded Non-small Cell Lung Carcinoma Samples: A Total of 5550 Exons Sequenced by 15 Molecular French Laboratories (Evaluation of the EGFR Mutation Status f

article

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

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

scientific article published on 15 October 2019

Expected benefits of topotecan combined with lapatinib in recurrent ovarian cancer according to biological profile: a phase 2 trial

scientific article

FSHbeta gene mutation in a female with delayed puberty and hypogonadism: response to recombinant human FSH.

scientific article published in January 2009

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

scientific article published on 21 March 2019

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

Identification of I1171N resistance mutation in ALK-positive non-small-cell lung cancer tumor sample and circulating tumor DNA.

scientific article published on 14 June 2016

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

scientific article

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

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

Progressive osseous heteroplasia: a model for the imprinting effects of GNAS inactivating mutations in humans

scientific article

Relevance of Detection of Mechanisms of Resistance to ALK Inhibitors in ALK-Rearranged NSCLC in Routine Practice

scientific article published on 26 February 2019

Routine molecular profiling of patients with advanced non-small-cell lung cancer: results of a 1-year nationwide programme of the French Cooperative Thoracic Intergroup (IFCT).

scientific article published on 14 January 2016

Seasonal expression of KiSS-1 and the pituitary gonadotropins LHβ and FSHβ in adult male Libyan jird (Meriones libycus).

scientific 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

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

scientific article published on 26 May 2017

[Epigenetics and pseudohypoparathyroidism]

scientific article published on 25 November 2009

[New biological treatments for lung cancer]

scientific article published on 01 February 2007

Paulina is supported by:

About Paulina

Help