Lista de obras - Marie Legendre - Dominio Público Uruguay

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

artículo científico publicado en 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

artículo científico publicado en 2006

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

artículo científico publicado en 2019

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

artículo científico publicado en 2016

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

artículo científico publicado en 2011

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

artículo científico publicado en 2011

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

artículo científico publicado en 2024

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

artículo científico publicado en 2014

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

artículo científico publicado en 2003

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

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

artículo científico publicado en 2019

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

artículo científico publicado en 2008

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

artículo científico publicado en 2012

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

artículo científico publicado en 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

artículo científico publicado en 2007

European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia

artículo científico publicado en 2016

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

artículo científico publicado en 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.

artículo científico publicado en 2017

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

artículo científico publicado en 2012

Germline SFTPA1 mutation in familial idiopathic interstitial pneumonia and lung cancer

artículo científico publicado en 2016

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

artículo científico publicado en 2017

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

artículo científico publicado en 2006

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

artículo científico publicado en 2019

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

artículo científico publicado en 2006

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

artículo científico publicado en 2012

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

artículo científico publicado en 2013

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

artículo científico publicado en 2009

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

artículo científico publicado en 2005

Misprocessing of theCFTRprotein leads to mild cystic fibrosis phenotype

artículo científico publicado en 2005

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

artículo científico publicado en 2015

Motile cilia and airway disease

artículo científico publicado en 2020

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

artículo científico publicado en 2020

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

artículo científico publicado en 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.

artículo científico publicado en 2016

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

artículo científico publicado en 2018

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

artículo científico publicado en 2019

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

artículo científico publicado en 2010

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

artículo científico publicado en 2019

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

artículo científico publicado en 2015

Recessive isolated growth hormone deficiency and mutations in the ghrelin receptor

artículo científico publicado en 2009

Recurrent Intragenic Duplication within the NR5A1 Gene and Severe Proximal Hypospadias

artículo científico publicado en 2018

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

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

artículo científico publicado en 2012

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

artículo científico publicado en 2019

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

artículo científico publicado en 2020

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

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

artículo científico publicado en 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.

artículo científico publicado en 2003

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

artículo científico publicado en 2019

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

artículo científico publicado en 2015

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

artículo científico

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 ⬇️

artículo científico publicado el 6 de noviembre de 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.

artículo científico publicado en 2017

Y-chromosome AZFc structural architecture and relationship to male fertility

artículo científico publicado en 2008

Lista de obras de Marie Legendre

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

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

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

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

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

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

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

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

COPA Syndrome as a Cause of Lupus Nephritis

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

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

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

Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated Patients.

Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations

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

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

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

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

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

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

European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia

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

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

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

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

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

Germline SFTPA1 mutation in familial idiopathic interstitial pneumonia and lung cancer

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

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

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

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

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

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

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

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

Misprocessing of theCFTRprotein leads to mild cystic fibrosis phenotype

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

Motile cilia and airway disease

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

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

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

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

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

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

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

Pilot experience of multidisciplinary team discussion dedicated to inherited pulmonary fibrosis

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

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

Recessive isolated growth hormone deficiency and mutations in the ghrelin receptor

Recurrent Intragenic Duplication within the NR5A1 Gene and Severe Proximal Hypospadias

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

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

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

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

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

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

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

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

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

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

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

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 ⬇️

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

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

Y-chromosome AZFc structural architecture and relationship to male fertility