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Mainzer-Saldino syndrome is a ciliopathy caused by mutations in the IFT140 gene
Isabelle Perrault
,
Sophie Saunier
,
Sylvain Hanein
,
Emile Filhol
,
Albane A. Bizet
et al.
First International Cilia in Development and Disease Scientific Conference, pp.O28
Conference papers
inserm-00752958v1
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Severe X-linked chondrodysplasia punctata in nine new female fetuses
Mathilde Lefebvre
,
Fabienne Dufernez
,
Ange-Line Bruel
,
Marie Gonzales
,
Bernard Aral
et al.
Journal articles
istex
hal-01376847v1
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Coordination du réseau des acteurs de la prise en charge d’une maladie osseuse constitutionnelle
Valérie Cormier-Daire
Journal articles
hal-03486545v1
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A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy
Lam Son Nguyen
,
Taiane Schneider
,
Marlène Rio
,
Sébastien Moutton
,
Karine Siquier-Pernet
et al.
Journal articles
hal-02142307v1
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Biallelic KIF24 variants are responsible for a spectrum of skeletal disorders ranging from lethal skeletal ciliopathy to severe acromesomelic dysplasia
Madeline Louise Reilly
,
Noor Ul Ain
,
Mari Muurinen
,
Alice Tata
,
Céline Huber
et al.
Journal articles
hal-03705297v1
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Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith–Wiedemann Syndrome: Clinical Spectrum and Functional Characterization
Frederic Brioude
,
Irène Netchine
,
Françoise Praz
,
Marilyne Le Jule
,
Claire Calmel
et al.
Journal articles
istex
hal-01195734v1
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The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype
Mouna Barat-Houari
,
Bruno Dumont
,
Aurelie J Fabre
,
Frédéric Tm Them
,
Yves Alembik
et al.
Journal articles
hal-01239808v1
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Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU
Christel Depienne
,
Caroline Nava
,
Boris Keren
,
Solveig Heide
,
Agnès Rastetter
et al.
Journal articles
hal-01502135v1
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Asphyxiating Thoracic Dysplasia: clinical and molecular review of 42 families
Valérie Cormier-Daire
,
Céline Huber
,
Geneviève Baujat
,
R Caumes
,
Honorine Kayirangwa
et al.
First International Cilia in Development and Disease Scientific Conference, pp.O4
Conference papers
inserm-00752961v1
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XYLT1 Mutations in Desbuquois Dysplasia Type 2
Catherine Bui
,
Céline Huber
,
Beyhan Tuysuz
,
Yasemin Alanay
,
Christine Bole-Feysot
et al.
Journal articles
hal-01704452v1
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Xq25 duplications encompassing GRIA3 and STAG2 genes in two families convey recognizable X-linked intellectual disability with distinctive facial appearance.
Anne Philippe
,
Valérie Malan
,
Marie-Line Jacquemont
,
Nathalie Boddaert
,
Jean-Paul Bonnefont
et al.
Journal articles
istex
hal-00877108v1
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Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing
Agnès Taillandier
,
Christelle Domingues
,
Clémence de Cazanove
,
Valérie Porquet-Bordes
,
Sophie Monnot
et al.
Journal articles
hal-01214009v1
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The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus
Ariane Dimitrov
,
Vincent Paupe
,
Charles Gueudry
,
Jean-Baptiste Sibarita
,
Graça Raposo
et al.
Journal articles
hal-02342676v1
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Growth charts in Kabuki syndrome 1
Valentin Ruault
,
Carole Corsini
,
Claire Duflos
,
Sandrine Akouete
,
Véra Georgescu
et al.
Journal articles
hal-03388687v1
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29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype
Marie-Lorraine Monin
,
Cyril Mignot
,
Pascale de Lonlay
,
Bénédicte Héron
,
Alice Masurel
et al.
Journal articles
hal-01112338v1
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Healthcare trajectory of children with rare bone disease attending pediatric emergency departments
David Dawei Yang
,
Geneviève Baujat
,
Antoine Neuraz
,
Nicolas Garcelon
,
Claude Messiaen
et al.
Journal articles
hal-03887220v1
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SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects
Johanne Dubail
,
Céline Huber
,
Sandrine Chantepie
,
Stephan Sonntag
,
Beyhan Tuysuz
et al.
Journal articles
hal-01914333v1
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Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetrance.
Matthieu Egloff
,
Lam-Son Nguyen
,
Karine Siquier-Pernet
,
Valérie Cormier-Daire
,
Geneviève Baujat
et al.
Journal articles
hal-02087837v1
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Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome
Richard Redon
,
Geneviève Baujat
,
Damien Sanlaville
,
Martine Le Merrer
,
Michel Vekemans
et al.
Journal articles
hal-02142127v1
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Fibrodysplasie ossifiante progressive et hétéroplasie ossifiante progressive
Geneviève Baujat
,
Caroline Michot
,
Kim-Hanh Le Quan Sang
,
Valérie Cormier-Daire
Journal articles
hal-03486559v1
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SLC10A7, an orphan member of the SLC10 family involved in congenital disorders of glycosylation
Zoe Durin
,
Johanne Dubail
,
Aurore Layotte
,
Dominique Legrand
,
Valérie Cormier-Daire
et al.
Journal articles
hal-03538979v1
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Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders
Erfan Aref-Eshghi
,
Jennifer Kerkhof
,
Victor Pedro
,
Mouna Barat-Houari
,
Nathalie Ruiz-Pallares
et al.
Journal articles
hal-02538107v1
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A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome
Mathilde Nizon
,
Marcia Henry
,
Caroline Michot
,
Clarisse Baumann
,
Anne Bazin
et al.
Journal articles
hal-01255844v1
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The critical role of the TB5 domain of fibrillin-1 in endochondral ossification
Laure Delhon
,
Zakaria Mougin
,
Jérémie Jonquet
,
Angélique Bibimbou
,
Johanne Dubail
et al.
Journal articles
hal-03946887v1
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In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome
Virginie Carmignac
,
Julie Thevenon
,
Lesley Ades
,
Bert Callewaert
,
Sophie Julia
et al.
Journal articles
hal-01670135v1
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Mutations within or upstream of the basic helix–loop–helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome
Vincent El Ghouzzi
,
Elisabeth Lajeunie
,
Martine Le Merrer
,
Valérie Cormier-Daire
,
Dominique Renier
et al.
Journal articles
hal-02342815v1
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Impairment of chondrogenesis and microfibrillar network in Adamtsl2 deficiency
Laure Delhon
,
Clementine Mahaut
,
Nicolas Goudin
,
Emilie Gaudas
,
Kevin Piquand
et al.
Journal articles
hal-02137091v1
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Orthopedics management of acromicric dysplasia: follow up of nine patients.
Céline Klein
,
Carine Le Goff
,
Vicken Topouchian
,
Sylvie Odent
,
Philippe Violas
et al.
Journal articles
istex
hal-00971298v1
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Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion
Marie Alice Dupont
,
Camille Humbert
,
Céline Huber
,
Quentin Siour
,
Ida Chiara Guerrera
et al.
Journal articles
hal-02391689v1
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Healthcare trajectory of children with rare bone disease attending pediatric emergency departments
David Dawei Yang
,
Geneviève Baujat
,
Antoine Neuraz
,
Nicolas Garcelon
,
Claude Messiaen
et al.
Journal articles
hal-03962408v1
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