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List of works by Marie Legendre

A Nonsmoker Man in His 40s With a Diagnosis of Genetic-Related Idiopathic Pulmonary Fibrosis (Surfactant-Protein C Gene Mutation)

scientific article published on 01 April 2019

A Novel Homozygous Nonsense HYDIN Gene Mutation p.(Arg951*) in Primary Ciliary Dyskinesia

scientific article published on 14 May 2019

A new large CFTR rearrangement illustrates the importance of searching for complex alleles

scientific article published on 01 July 2006

Association of Maternal First Trimester Serum Levels of Free Beta Human Chorionic Gonadotropin and Hypospadias: A Population Based Study

scientific article published on 19 December 2019

Association of hidradenitis suppurativa and familial Mediterranean fever: A case series of 6 patients.

scientific article

Bi-allelic missense ABCA3 mutations in a patient with childhood ILD who reached adulthood

scientific article published on 22 July 2019

Birth after TESE-ICSI in a man with hypogonadotropic hypogonadism and congenital adrenal hypoplasia linked to a DAX-1 (NR0B1) mutation

scientific article

CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs

scientific article

COPA Syndrome as a Cause of Lupus Nephritis

scientific article published on 28 April 2019

Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules

scientific article published on 25 April 2024

Clinical and molecular findings in a Moroccan patient with popliteal pterygium syndrome: a case report

scientific article

Clinical evaluation of a reverse hybridization assay for the molecular detection of twelve MEFV gene mutations

scientific article published on November 2003

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

Critical Evaluation of Sinonasal Disease in 64 Adults with Primary Ciliary Dyskinesia

scientific article published on 07 May 2019

Cystic fibrosis carrier frequency and estimated prevalence of the disease in Morocco.

scientific article

Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia

scientific article published on 26 November 2019

Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia

scientific article

Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia.

scientific article published on 16 November 2012

Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling

scientific article published on 28 February 2007

European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia

scientific article published on 11 November 2016

Extreme Short Stature and Severe Neurological Impairment in a 17-Year-Old Male With Untreated Combined Pituitary Hormone Deficiency Due to POU1F1 Mutation

scientific article published on 27 June 2019

Follow-Up and Management of Chronic Rhinosinusitis in Adults with Primary Ciliary Dyskinesia: Review and Experience of Our Reference Centers

scientific article published on 19 September 2019

Functional assessment and phenotypic heterogeneity of SFTPA1 and SFTPA2 mutations in interstitial lung diseases and lung cancer

scientific article published on 27 August 2020

Functional characterization of tektin-1 in motile cilia and evidence for TEKT1 as a new candidate gene for motile ciliopathies.

scientific article

Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies

scientific article published on 11 January 2012

Germline SFTPA1 mutation in familial idiopathic interstitial pneumonia and lung cancer

scientific article published on 19 January 2016

Infertility in an adult cohort with primary ciliary dyskinesia: phenotype-gene association.

scientific article

Intrafamilial segregation analysis of the p.E148Q MEFV allele in familial Mediterranean fever

scientific article published on 26 January 2006

Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance

scientific article published on 18 January 2019

Loss of constitutive activity of the growth hormone secretagogue receptor in familial short stature

scientific article

Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia

scientific article

Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects

scientific article

Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia

scientific article

MEFV analysis is of particularly weak diagnostic value for recurrent fevers in Western European Caucasian patients

scientific article

Misprocessing of theCFTRprotein leads to mild cystic fibrosis phenotype

scientific article published on 01 April 2005

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

scientific article published on 6 February 2015

Motile cilia and airway disease

scientific article published on 02 December 2020

Mutations in COPA lead to abnormal trafficking of STING to the Golgi and interferon signaling

scientific article published on 01 November 2020

Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia

scientific article published on 06 June 2019

Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility

scientific journal article

Mutations in GAS8, a Gene Encoding a Nexin-Dynein Regulatory Complex Subunit, Cause Primary Ciliary Dyskinesia with Axonemal Disorganization.

scientific article published on 27 April 2016

Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus.

scientific article published on 21 November 2018

NLRP3-associated autoinflammatory diseases: Phenotypic and molecular characteristics of germline versus somatic mutations

scientific article published on 06 December 2019

Notable contribution of large CFTR gene rearrangements to the diagnosis of cystic fibrosis in fetuses with bowel anomalies

scientific article

Pilot experience of multidisciplinary team discussion dedicated to inherited pulmonary fibrosis

scientific article published on 03 December 2019

Primary ciliary dyskinesia gene contribution in Tunisia: Identification of a major Mediterranean allele

scientific article published on 15 September 2019

RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes

scientific article

Recessive isolated growth hormone deficiency and mutations in the ghrelin receptor

scientific article published on 29 September 2009

Recurrent Intragenic Duplication within the NR5A1 Gene and Severe Proximal Hypospadias

scientific article published on 13 January 2018

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

Screening of LHX2 in patients presenting growth retardation with posterior pituitary and ocular abnormalities

scientific article published on 24 April 2012

Somatic Mosaic NLRP3 Mutations and Inflammasome Activation in Late-Onset Chronic Urticaria

scientific article published on 09 September 2019

Standardised clinical data from patients with primary ciliary dyskinesia: FOLLOW-PCD

scientific article published on 01 January 2020

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

scientific article

Syndrome diagnosis with single-nucleotide polymorphism (SNP) microarray.

scientific article published on 30 July 2015

TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella

scientific article published on 23 January 2020

The E148Q MEFV allele is not implicated in the development of familial Mediterranean fever.

scientific article published on October 2003

The NLRP3 p.A441V Mutation in NLRP3-AID Pathogenesis: Functional Consequences, Phenotype-Genotype Correlations and Evidence for a Recurrent Mutational Event

scientific article published on 06 June 2019

The c.301_302delAG PROP1 gene mutation in Romanian patients with multiple pituitary hormone deficiency.

scientific article

Topological data analysis reveals genotype–phenotype relationships in primary ciliary dyskinesia

scientific article published on 21 January 2021

Two Siblings with Isolated GH Deficiency Due to Loss-of-Function Mutation in the GHRHR Gene: Successful Treatment with Growth Hormone Despite Late Admission and Severe Growth Retardation-Case Report

scientific article published on November 6, 2010

Use of ruxolitinib in COPA syndrome manifesting as life-threatening alveolar haemorrhage

scientific article published on 30 October 2019

X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3.

scientific article

Y-chromosome AZFc structural architecture and relationship to male fertility

scientific article published on 6 November 2008