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European Respiratory Society and American Thoracic Society guidelines for the diagnosis of Primary Ciliary Dyskinesia
Amelia Shoemark
,
Myrofora Goutaki
,
Breanna Kinghorn
,
Cristina Ardura-Garcia
,
Noelia Baz-Redón
et al.
Article dans une revue
(data paper)
inserm-05290698v1
|
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Somatic Mosaic NLRC4 Variants in Autoinflammatory Diseases: Functional Characterization and Correlation of Mosaicism Levels with Disease Age of Onset and Severity
Farah Diab
,
Camille Louvrier
,
Marc Fabre
,
Christine Lin
,
Mira Rabbaa
et al.
Article dans une revue
(data paper)
inserm-05291610v1
|
|
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Bi-allelic LAMP3 variants in childhood interstitial lung disease: a surfactant-related disease
Camille Louvrier
,
Tifenn Desroziers
,
Yohan Soreze
,
Martha Delgado Rodriguez
,
Lucie Thomas
et al.
Article dans une revue
(data paper)
inserm-04977533v1
|
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Childhood interstitial lung disease survivors in adulthood: a European collaborative study
Effrosyni Manali
,
Matthias Griese
,
Nadia Nathan
,
Yurdagül Uzunhan
,
Raphael Borie
et al.
Article dans une revue
(data paper)
inserm-05292316v1
|
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Surfactant Protein (SP)-A Benefits Over SP-A Mutant: A Preliminary Study for ILD Treatment
Tifenn Desroziers
,
Yohan Soreze
,
Marie Legendre
,
Florence Dastot Le Moal
,
Valérie Nau
et al.
Article dans une revue
(data paper)
inserm-05295818v1
|
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Penetrance of interstitial lung disease and lung cancer in carriers of SFTPA1 or SFTPA2 pathogenic variants
Lucas Ducrot
,
Nadia Nathan
,
Patrick Benusiglio
,
Raphael Borie
,
Gregory Nuel
et al.
Article dans une revue
(data paper)
inserm-05291687v1
|
|
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Interleukin-34 orchestrates bone formation through its binding to Bone Morphogenic Proteins
Dominique Heymann
,
Frédéric Lézot
,
Javier Muñoz-Garcia
,
Jorge William Vargas-Franco
,
Kristina Schiavone
et al.
Article dans une revue
hal-04901466v1
|
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Low-level NLRP3 mosaicism in chronic urticarial lesions: extending the phenotypic spectrum of NLRP3-related disorders and therapeutic implications
Aphrodite Daskalopoulou
,
Eman Assrawi
,
Farah Diab
,
Camille Louvrier
,
Maxime Samson
et al.
Article dans une revue
(data paper)
inserm-05291667v1
|
|
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Molecular Investigation in Early‐Onset Interstitial Lung Disease: Results From 699 Unrelated Patients
Camille Louvrier
,
Nadia Nathan
,
Vincent Cottin
,
Tifenn Desroziers
,
Valérie Nau
et al.
Article dans une revue
(data paper)
inserm-05375209v1
|
|
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De novo SRRM2 variants in neuroendocrine cell hyperplasia of infancy and persistent tachypnea of infancy
Camille Louvrier
,
Yohan Soreze
,
Julie Mesinele
,
Alix de Becdelièvre
,
Tifenn Desroziers
et al.
Article dans une revue
(data paper)
inserm-05375249v1
|
|
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Efficacy and safety of CFTR modulators in patients with interstitial lung disease caused by ABCA3 transporter deficiency
Mathilde Le Brun
,
Nadia Nathan
,
Camille Louvrier
,
Marie Legendre
,
Severine Feuillet
et al.
Article dans une revue
(data paper)
inserm-05291768v1
|
|
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High risk of lung cancer in surfactant-related gene variant carriers
Alexandre Brudon
,
Marie Legendre
,
Arthur Mageau
,
Julien Bermudez
,
Philippe Bonniaud
et al.
Article dans une revue
hal-04567614v1
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Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules
Daniel O Dodd
,
Sabrina Mechaussier
,
Patricia L Yeyati
,
Fraser Mcphie
,
Jacob R Anderson
et al.
Article dans une revue
(data paper)
inserm-04804407v1
|
|
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Acinar Dysplasia in a Full-Term Newborn with a NKX2.1 Variant
Yohan Soreze
,
Nadia Nathan
,
Julien Jegard
,
Erik Hervieux
,
Pauline Clermidi
et al.
Article dans une revue
(data paper)
inserm-04412777v1
|
|
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Similarities and differences of interstitial lung disease associated with pathogenic variants in SFTPC and ABCA3 in adults
Rémi Diesler
,
Marie Legendre
,
Salim Si-Mohamed
,
Pierre‐yves Brillet
,
Lidwine Wemeau
et al.
Article dans une revue
hal-04454275v1
|
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Skewed X-chromosome inactivation drives the proportion of DNAAF6 -defective airway motile cilia and variable expressivity in primary ciliary dyskinesia
Lucie Thomas
,
Laurence Cuisset
,
Jean-Francois Papon
,
Aline Tamalet
,
Isabelle Pin
et al.
Article dans une revue
(data paper)
inserm-04557687v1
|
|
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NKX2.1 mutation revealed by a lymphoid interstitial pneumonia in an adult with rheumatoid arthritis
Pierre Le Guen
,
Raphael Borie
,
Marie Legendre
,
Clairelyne Dupin
,
Laetitia Dunogeant
et al.
Article dans une revue
(data paper)
inserm-04183925v1
|
|
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Pharmacological options in the treatment of osteogenesis imperfecta: A comprehensive review of clinical and potential alternatives
Javier Muñoz-Garcia
,
Dominique Heymann
,
Irina Giurgea
,
Marie Legendre
,
Serge Amselem
et al.
Article dans une revue
(article de synthèse)
inserm-04100355v1
|
|
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The significance of multidisciplinary team meetings in diagnosing and managing childhood interstitial lung disease within the RespiRare network
Julie Cassibba
,
Ralph Epaud
,
Laureline Berteloot
,
Sabrina Aberbache
,
Lauren Bitton
et al.
Article dans une revue
(data paper)
inserm-05292701v1
|
|
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Hypomorphic pathogenic variant in SFTPB leads to adult pulmonary fibrosis
Tifenn Desroziers
,
Grégoire Prévot
,
Aurore Coulomb
,
Valérie Nau
,
Florence Dastot-Le Moal
et al.
Article dans une revue
(data paper)
inserm-04148844v2
|
|
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Outcome of lung transplantation for adults with interstitial lung disease associated with genetic disorders of the surfactant system
Julien Bermudez
,
Nadia Nathan
,
Benjamin Coiffard
,
Antoine Roux
,
Sandrine Hirschi
et al.
Article dans une revue
hal-04517578v1
|
|
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Otological Manifestations in Adults with Primary Ciliary Dyskinesia: A Controlled Radio-Clinical Study
Mihaela Alexandru
,
Paul de Boissieu
,
Farida Benoudiba
,
Malik Moustarhfir
,
Sookyung Kim
et al.
Article dans une revue
hal-03863866v1
|
|
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High Nasal Nitric Oxide, Cilia Analyses, and Genotypes in a Retrospective Cohort of Children with Primary Ciliary Dyskinesia
Marie Legendre
,
Guillaume Thouvenin
,
Jessica Taytard
,
Marguerite Baron
,
Muriel Le Bourgeois
et al.
Article dans une revue
inserm-03837091v1
|
|
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Genotype-Phenotype Relationships in Inheritable Idiopathic Pulmonary Fibrosis: A Greek National Cohort Study
Effrosyni D Manali
,
Caroline Kannengiesser
,
Raphael Borie
,
Ibrahima Ba
,
Demosthenes Bouros
et al.
Article dans une revue
inserm-03798564v1
|
|
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Systemic inflammatory syndrome in children with FARSA deficiency
Fabienne Charbit-Henrion
,
Roman Goguyer-Deschaumes
,
Keren Borensztajn
,
Marc Mirande
,
Jérémy Berthelet
et al.
Article dans une revue
inserm-03790743v1
|
|
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Combining RSPH9 founder mutation screening and next-generation sequencing analysis is efficient for primary ciliary dyskinesia diagnosis in Saudi patients
Imed Mabrouk
,
Nawal Al-Harthi
,
Rahma Mani
,
Guy Montantin
,
Sylvie Tissier
et al.
Article dans une revue
hal-03551986v1
|
|
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The clinical course of interstitial lung disease in an adult patient with an ABCA3 homozygous complex allele under hydroxychloroquine and a review of the literature.
Marie Legendre
,
Xavier Darde
,
Marion Ferreira
,
Sandra Chantot-Bastaraud
,
Marion Campana
et al.
Sarcoidosis, vasculitis, and diffuse lung diseases : official journal of WASOG / World Association of Sarcoidosis and Other Granulomatous Disorders, 2022, 39 (2), pp.e2022019. ⟨10.36141/svdld.v39i2.12730⟩
Article dans une revue
inserm-03837029v1
|
|
|
Mosaic variants in TNFRSF1A : an emerging cause of tumour necrosis factor receptor-associated periodic syndrome
Eman Assrawi
,
Camille Louvrier
,
Elma El Khouri
,
Jérémie Delaleu
,
Bruno Copin
et al.
Article dans une revue
inserm-03837058v1
|
|
|
Unravelling a case of 46,XY DSD due to 17ß-Hydroxysteroid Dehydrogenase type 3 mutations at the age of 49
Aubin Garcia
,
Marie Legendre
,
Sandra Chantot-Bastaraud
,
Jean Pierre Siffroi
,
Sophie Christin-Maitre
Article dans une revue
inserm-03798449v1
|
|
|
Breath holding and tidal breathing nasal NO to screen children for Primary Ciliary Dyskinesia
Nicole Beydon
,
Aline Tamalet
,
Estelle Escudier
,
Marie Legendre
,
Guillaume Thouvenin
Article dans une revue
hal-03201639v1
|
|
|
Topological data analysis reveals genotype–phenotype relationships in primary ciliary dyskinesia
Amelia Shoemark
,
Bruna Rubbo
,
Marie Legendre
,
Mahmoud Fassad
,
Eric Haarman
et al.
Article dans une revue
inserm-03791242v2
|
|
|
Motile cilia and airway disease
Marie Legendre
,
Laure-Emmanuelle Zaragosi
,
Hannah Mitchison
Article dans une revue
inserm-03780781v1
|
|
|
Mutations in COPA lead to abnormal trafficking of STING to the Golgi and interferon signaling
Alice Lepelley
,
Maria José Martin-Niclos
,
Melvin Le Bihan
,
Joseph A. Marsh
,
Carolina Uggenti
et al.
Article dans une revue
pasteur-02933253v1
|
|
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Somatic Mosaic NLRP3 Mutations and Inflammasome Activation in Late-Onset Chronic Urticaria
Eman Assrawi
,
Camille Louvrier
,
Clémence Lepelletier
,
Sophie Georgin-Lavialle
,
Jean-David Bouaziz
et al.
Article dans une revue
hal-03489548v1
|
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NLRP3-associated autoinflammatory diseases: Phenotypic and molecular characteristics of germline versus somatic mutations
Camille Louvrier
,
Eman Assrawi
,
Elma El Khouri
,
Isabelle Melki
,
Bruno Copin
et al.
Article dans une revue
inserm-03782874v1
|
|
|
Standardised clinical data from patients with primary ciliary dyskinesia: FOLLOW-PCD
Myrofora Goutaki
,
Jean-François Papon
,
Mieke Boon
,
Carmen Casaulta
,
Ernst Eber
et al.
Article dans une revue
inserm-03798688v1
|
|
|
Functional assessment and phenotypic heterogeneity of SFTPA1 and SFTPA2 mutations in interstitial lung diseases and lung cancer
Marie Legendre
,
Afifaa Butt
,
Raphaël Borie
,
Marie-Pierre Debray
,
Diane Bouvry
et al.
Article dans une revue
inserm-03794264v2
|
|
|
Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia
Sylvain Blanchon
,
Marie Legendre
,
Mathieu Bottier
,
Aline Tamalet
,
Guy Montantin
et al.
Article dans une revue
hal-03093190v1
|
|
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Association of Maternal First Trimester Serum Levels of Free Beta Human Chorionic Gonadotropin and Hypospadias: A Population Based Study
Matthieu Peycelon
,
Nathalie Lelong
,
Léa Carlier
,
M. Francesca Monn
,
Aliénor de Chalus
et al.
Article dans une revue
hal-03009486v1
|
|
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Use of ruxolitinib in COPA syndrome manifesting as life-threatening alveolar haemorrhage
Marie-Louise Frémond
,
Marie Legendre
,
Michael Fayon
,
Annick Clement
,
Emilie Filhol-Blin
et al.
Article dans une revue
pasteur-02376257v1
|
|
|
Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations
Enzo Cohen
,
Sabrina Belkacem
,
Soumeya Fedala
,
Nathalie Collot
,
Eliane Khallouf
et al.
Article dans une revue
inserm-03712902v1
|
|
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Pilot experience of multidisciplinary team discussion dedicated to inherited pulmonary fibrosis
Raphael Borie
,
Caroline Kannengiesser
,
Laurent Gouya
,
Clairelyne Dupin
,
Serge Amselem
et al.
Article dans une revue
inserm-03798757v1
|
|
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Bi-allelic missense ABCA3 mutations in a patient with childhood ILD who reached adulthood
Effrosyni D Manali
,
Marie Legendre
,
Nadia Nathan
,
Caroline Kannengiesser
,
Aurore Coulomb-L'Hermine
et al.
Article dans une revue
inserm-03798670v1
|
|
|
COPA syndrome as a cause of lupus nephritis
Siham Boulisfane-El Khalifi
,
Sébastien Viel
,
Annie Lahoche
,
Marie-Louise Fremond
,
Jonathan Lopez
et al.
Article dans une revue
hal-02519584v1
|
|
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Follow-Up and Management of Chronic Rhinosinusitis in Adults with Primary Ciliary Dyskinesia: Review and Experience of Our Reference Centers
Emilie Bequignon
,
Laurence Dupuy
,
Virginie Escabasse
,
Francoise Zerah-Lancner
,
Laurence Bassinet
et al.
Article dans une revue
hal-02342142v1
|
|
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Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance
Ximena Bustamante-Marin
,
Wei-Ning Yin
,
Patrick Sears
,
Michael Werner
,
Eva Brotslaw
et al.
Article dans une revue
inserm-03780550v1
|
|
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A Novel Homozygous Nonsense HYDIN Gene Mutation p.(Arg951*) in Primary Ciliary Dyskinesia
Antony Terance Benjamin
,
Ram Ganesh
,
Balan Louis Gaspar
,
Jane Lucas
,
Claire Jackson
et al.
Article dans une revue
inserm-03798432v1
|
|
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Critical Evaluation of Sinonasal Disease in 64 Adults with Primary Ciliary Dyskinesia
Emilie Bequignon
,
Laurence Dupuy
,
Francoise Zerah-Lancner
,
Laurence Bassinet
,
Isabelle Honoré
et al.
Article dans une revue
inserm-03794401v1
|
|
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A Nonsmoker Man in His 40s With a Diagnosis of Genetic-Related Idiopathic Pulmonary Fibrosis (Surfactant-Protein C Gene Mutation)
Antonin Fattori
,
Mickael Ohana
,
Sandrine Hirschi
,
Romain Kessler
,
Nicola Santelmo
et al.
Article dans une revue
inserm-03782700v1
|
|
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Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia
Marjorie Whitfield
,
Lucie Thomas
,
Emilie Bequignon
,
Alain Schmitt
,
Laurence Stouvenel
et al.
Article dans une revue
hal-02315263v1
|
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Primary ciliary dyskinesia gene contribution in Tunisia: Identification of a major Mediterranean allele
Rahma Mani
,
Sabrina Belkacem
,
Zohra Soua
,
Sandra Chantot
,
Guy Montantin
et al.
Article dans une revue
inserm-03798385v1
|
|
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Functional characterization of tektin-1 in motile cilia and evidence for TEKT1 as a new candidate gene for motile ciliopathies
Rebecca Ryan
,
Marion Failler
,
Madeline Louise Reilly
,
Meriem Garfa-Traoré
,
Marion Delous
et al.
Article dans une revue
inserm-02263788v1
|
|
|
Screening a large pediatric cohort with GH deficiency for mutations in genes regulating pituitary development and GH secretion: Frequencies, phenotypes and growth outcomes
Werner Blum
,
Jürgen Klammt
,
Serge Amselem
,
Heike Pfäffle
,
Marie Legendre
et al.
Article dans une revue
inserm-03780612v1
|
|
|
Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus
Mahmoud R. Fassad
,
Amelia Shoemark
,
Marie Legendre
,
Robert A. Hirst
,
France Koll
et al.
Article dans une revue
hal-02178023v1
|
|
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X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3
Chiara Olcese
,
Mitali Patel
,
Amelia Shoemark
,
Santeri Kiviluoto
,
Marie Legendre
et al.
Article dans une revue
hal-01560951v1
|
|
|
European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia
Jane Lucas
,
Angelo Barbato
,
Samuel Collins
,
Myrofora Goutaki
,
Laura Behan
et al.
Article dans une revue
inserm-03869001v1
|
|
|
Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated Patients
Enzo Cohen
,
Mohamad Maghnie
,
Nathalie Collot
,
Juliane Leger
,
Florence Dastot
et al.
Article dans une revue
inserm-03837720v1
|
|
|
Infertility in an adult cohort with primary ciliary dyskinesia: phenotype–gene association
Gert Jan Vanaken
,
Laurence Bassinet
,
Mieke Boon
,
Rahma Mani
,
Isabelle Honoré
et al.
Article dans une revue
inserm-03837666v1
|
|
|
Association of hidradenitis suppurativa and familial Mediterranean fever: A case series of 6 patients
Salam Abbara
,
Sophie Georgin-Lavialle
,
Katia Stankovic Stojanovic
,
Claude Bachmeyer
,
Patricia Senet
et al.
Article dans une revue
inserm-03837800v1
|
|
|
Mutations in DNAJB13 , Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility
Elma El Khouri
,
Lucie Thomas
,
Ludovic Jeanson
,
Emilie Bequignon
,
Benoit Vallette
et al.
Article dans une revue
inserm-03875562v1
|
|
|
Mutations in GAS8 , a Gene Encoding a Nexin-Dynein Regulatory Complex Subunit, Cause Primary Ciliary Dyskinesia with Axonemal Disorganization
Ludovic Jeanson
,
Lucie Thomas
,
Bruno Copin
,
André Coste
,
Isabelle Sermet-Gaudelus
et al.
Article dans une revue
inserm-03884295v1
|
|
|
Syndrome diagnosis with single-nucleotide polymorphism (SNP) microarray
Matthew Edwards
,
Sally Brescianini
,
Catherine Allgood
,
Michael Freelander
,
Richard Dunstan
et al.
Article dans une revue
istex
inserm-03884531v1
|
|
|
Germline SFTPA1 mutation in familial idiopathic interstitial pneumonia and lung cancer
Nadia Nathan
,
Violaine Giraud
,
Clement Picard
,
Hilario Nunes
,
Florence Dastot-Le Moal
et al.
Article dans une revue
hal-01459431v1
|
|
|
RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes
Ludovic Jeanson
,
Bruno Copin
,
Jean-François Papon
,
Florence Dastot-Le Moal
,
Philippe Duquesnoy
et al.
Article dans une revue
hal-03829114v1
|
|
|
The c.301_302delAG PROP1 gene mutation in Romanian patients with multiple pituitary hormone deficiency
Cecilia Lazea
,
Paula Grigorescu-Sido
,
Radu Popp
,
Marie Legendre
,
Serge Amselem
et al.
Article dans une revue
hal-03884701v1
|
|
|
Loss-of-Function Mutations in RSPH1 Cause Primary Ciliary Dyskinesia with Central-Complex and Radial-Spoke Defects
Esther Kott
,
Marie Legendre
,
Bruno Copin
,
Jean-François Papon
,
Florence Dastot-Le Moal
et al.
Article dans une revue
inserm-03887837v1
|
|
|
Loss-of-Function Mutations in LRRC6 , a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms, Cause Primary Ciliary Dyskinesia
Esther Kott
,
Philippe Duquesnoy
,
Bruno Copin
,
Marie Legendre
,
Florence Dastot-Le Moal
et al.
Article dans une revue
inserm-03888655v1
|
|
|
Screening of LHX2 in patients presenting growth retardation with posterior pituitary and ocular abnormalities
C. Perez
,
Florence Dastot-Le Moal
,
N. Collot
,
M. Legendre
,
I. Abadie
et al.
Article dans une revue
inserm-03888901v1
|
|
|
Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia
Sylvain Blanchon
,
Marie Legendre
,
Bruno Copin
,
Philippe Duquesnoy
,
Guy Montantin
et al.
Article dans une revue
istex
inserm-03888840v1
|
|
|
Symptomatic Heterozygotes and Prenatal Diagnoses in a Nonconsanguineous Family with Syndromic Combined Pituitary Hormone Deficiency Resulting from Two Novel LHX3 Mutations
Marie-Laure Sobrier
,
Cécile Brachet
,
Marie-Pierre Vié-Luton
,
Christelle Perez
,
Bruno Copin
et al.
Article dans une revue
inserm-03889540v1
|
|
|
Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies
Andrée Delahaye
,
Pierre Bitoun
,
Séverine Drunat
,
Marion Gérard-Blanluet
,
Nicolas Chassaing
et al.
Article dans une revue
inserm-03889622v1
|
|
|
CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs
Anne-Christine Merveille
,
Erica Davis
,
Anita Becker-Heck
,
Marie Legendre
,
Israel Amirav
et al.
Article dans une revue
inserm-03894583v1
|
|
|
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
Zeynep Şıklar
,
Merih Berberoğlu
,
Maria Legendre
,
Serge Amselem
,
Olcay Evliyaoğlu
Article dans une revue
inserm-03894227v1
|
|
|
Loss-of-Function Mutations in the Human Ortholog of Chlamydomonas reinhardtii ODA7 Disrupt Dynein Arm Assembly and Cause Primary Ciliary Dyskinesia
Philippe Duquesnoy
,
Estelle Escudier
,
Laetitia Vincensini
,
Judy Freshour
,
Anne-Marie Bridoux
et al.
Article dans une revue
inserm-03894697v1
|
|
|
Recessive Isolated Growth Hormone Deficiency and Mutations in the Ghrelin Receptor
Jacques Pantel
,
Marie Legendre
,
Sylvie Nivot
,
Séverine Morisset
,
Marie Vie-Luton
et al.
Article dans une revue
hal-02081574v1
|
|
|
Y-chromosome AZFc structural architecture and relationship to male fertility
Celia Ravel
,
Sandra Chantot-Bastaraud
,
Brahim El Houate
,
Hassan Rouba
,
Marie Legendre
et al.
Article dans une revue
(data paper)
inserm-04133897v1
|
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Cystic fibrosis carrier frequency and estimated prevalence of the disease in Morocco
Ilham Ratbi
,
Emmanuelle Génin
,
Marie Legendre
,
Annick Le Floch
,
Catherine Costa
et al.
Article dans une revue
(data paper)
inserm-04134264v1
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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
Ilham Ratbi
,
Marie Legendre
,
Florence Niel
,
Josiane Martin
,
Jean-Claude Soufir
et al.
Article dans une revue
(data paper)
inserm-04134297v1
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Misprocessing of the CFTR protein leads to mild cystic fibrosis phenotype
Jérôme Clain
,
Jacqueline Lehmann-Che
,
Ingrid Duguépéroux
,
Nicole Arous
,
Emmanuelle Girodon
et al.
Article dans une revue
(data paper)
inserm-04134373v1
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TCGAP, a multidomain Rho GTPase-activating protein involved in insulin-stimulated glucose transport
Shian-Huey Chiang
,
Joseph Hwang
,
Marie Legendre
,
Mei Zhang
,
Akiko Kimura
et al.
Article dans une revue
(data paper)
inserm-04134605v1
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Clinical Evaluation of a Reverse Hybridization Assay for the Molecular Detection of Twelve MEFV Gene Mutations
Dimitri Tchernitchko
,
Marie Legendre
,
Andrée Delahaye
,
Cécile Cazeneuve
,
Florence Niel
et al.
Article dans une revue
(data paper)
inserm-04134539v1
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The E148QMEFV allele is not implicated in the development of familial Mediterranean fever
Dimitri Tchernitchko
,
Marie Legendre
,
Cecile Cazeneuve
,
Andrée Delahaye
,
Florence Niel
et al.
Article dans une revue
(data paper)
inserm-04134480v1
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