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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.
Journal articles
inserm-03894697v1
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CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.
Soumaya Mougou-Zerelli
,
Sophie Thomas
,
Emmanuelle Szenker
,
Sophie Audollent
,
Nadia Elkhartoufi
,
et al.
Journal articles
inserm-00420359v1
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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
Journal articles
inserm-03894227v1
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Recessive Isolated Growth Hormone Deficiency and Mutations in the Ghrelin Receptor
Jacques Pantel
,
Marie Legendre
,
Sylvie Nivot
,
Séverine Morisset
,
Marie Vie-Luton
,
et al.
Journal articles
hal-02081574v1
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Identification and functional consequences of a recurrent NLRP12 missense mutation in periodic fever syndromes
Isabelle Jéru
,
Gaëlle Le Borgne
,
Emmanuelle Cochet
,
Hasmik Hayrapetyan
,
Philippe Duquesnoy
,
et al.
Journal articles
inserm-03889764v1
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A novel POU1F1 mutation (p.Thr168IlefsX7) associated with an early and severe form of combined pituitary hormone deficiency: functional analysis and follow-up from infancy to adulthood
Yardena Tenenbaum-Rakover
,
Marie-Laure Sobrier
,
Serge Amselem
Journal articles
istex
inserm-03894099v1
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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.
Journal articles
inserm-03894583v1
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Functional consequences of a germline mutation in the leucine-rich repeat domain of NLRP3 identified in an atypical autoinflammatory disorder
Isabelle Jéru
,
Sandrine Marlin
,
Gaëlle Le Borgne
,
Emmanuelle Cochet
,
Sylvain Normand
,
et al.
Journal articles
inserm-03894647v1
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Role of interleukin-1β in NLRP12-associated autoinflammatory disorders and resistance to anti-interleukin-1 therapy
Isabelle Jéru
,
Véronique Hentgen
,
Sylvain Normand
,
Philippe Duquesnoy
,
Emmanuelle Cochet
,
et al.
Journal articles
inserm-03894153v1
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A recurrent deep-intronic splicing CF mutation emphasizes the importance of mRNA studies in clinical practice
Catherine Costa
,
Virginie Prulière-Escabasse
,
Alix de Becdelièvre
,
Christine Gameiro
,
Lisa Golmard
,
et al.
Journal articles
hal-02446238v1
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