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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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Finger creases lend a hand in Kabuki syndrome.
Caroline Michot
,
Carole Corsini
,
Damien Sanlaville
,
Clarisse Baumann
,
Annick Toutain
et al.
Journal articles
hal-00916763v1
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TP63 gene mutation in ADULT syndrome
Jeanne Amiel
,
Gaëlle Bougeard
,
Christine Francannet
,
Valérie Raclin
,
Arnold Munnich
et al.
Journal articles
hal-03106954v1
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De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene
Jean Chemin
,
Karine Siquier-Pernet
,
Michael Nicouleau
,
Giulia Barcia
,
Ali Ahmad
et al.
Journal articles
hal-02017665v1
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A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation
Laurence Colleaux
,
Marlène Rio
,
Solange Heuertz
,
Séverine Moindrault
,
Catherine Turleau
et al.
Journal articles
hal-02090216v1
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Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse)
Loïc de Pontual
,
Virginie Népote
,
Tania Attié-Bitach
,
Hassan Al Halabiah
,
Ha Trang
et al.
Journal articles
hal-02342800v1
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INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex
Lauren Mascibroda
,
Mohammad Shboul
,
Nathan Elrod
,
Laurence Colleaux
,
Hanan Hamamy
et al.
Journal articles
hal-03820934v1
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Contiguous mutation syndrome in the era of high-throughput sequencing
Maéva Langouët Langouët
,
Karine Siquier-Pernet
,
Sylvia Sanquer
,
Christine Bole-Feysot
,
Patrick Nitschke
et al.
Journal articles
hal-02087771v1
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Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy
Samira Ait-El-Mkadem
,
Manal Dayem-Quere
,
Mirjana Gusic
,
Annabelle Chaussenot
,
Sylvie Bannwarth
et al.
Journal articles
hal-02185218v1
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PIK3R1 Mutations Cause Syndromic Insulin Resistance with Lipoatrophy
Christel Thauvin-Robinet
,
Martine Auclair
,
Laurence Duplomb
,
Martine Caron-Debarle
,
Magali Avila
et al.
Journal articles
hal-01064045v1
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ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder
Raphael Carapito
,
Ekaterina L. Ivanova
,
Aurore Morlon
,
Linyan Meng
,
Anne Molitor
et al.
Journal articles
hal-03486684v1
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Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4.
Nadège Bondurand
,
Florence Dastot-Le Moal
,
Laure Stanchina
,
Nathalie Collot
,
Viviane Baral
et al.
Journal articles
inserm-00196715v1
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Kaposi sarcoma, oral malformations, mitral dysplasia, and scoliosis associated with 7q34-q36.3 heterozygous terminal deletion
Carolyn Jackson
,
Alain Lefèvre-Utile
,
Anne Guimier
,
Valérie Malan
,
Julie Bruneau
et al.
Journal articles
pasteur-03208057v1
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Clinical and molecular delineation of Tetrasomy 9p syndrome: Report of 12 new cases and literature review
Laïla El Khattabi
,
Sylvie Jaillard
,
Joris Andrieux
,
Laurent Pasquier
,
Laurence Perrin
et al.
Journal articles
istex
hal-01165441v1
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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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MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects
Juliette Coursimault
,
Anne-Marie Guerrot
,
Michelle Morrow
,
Catherine Schramm
,
Francisca Millan Zamora
et al.
Journal articles
hal-03820933v1
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Les mutations du gène NONO sont responsables d’un nouveau syndrome de déficience intellectuelle lié au dysfonctionnement des synapses inhibitrices
Maéva Langouët Langouët
,
Dennis Mircsof
,
Marlène Rio
,
Jeanne Amiel
,
Steven Brown
et al.
Journal articles
hal-02142248v1
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PHOX2B in respiratory control: lessons from congenital central hypoventilation syndrome and its mouse models.
Jeanne Amiel
,
Véronique Dubreuil
,
Nélina Ramanantsoa
,
Gilles Fortin
,
Jorge Gallego
et al.
Journal articles
istex
hal-00444550v1
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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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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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Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy
Anne Guimier
,
Christopher T. Gordon
,
François Godard
,
Gianina Ravenscroft
,
Myriam Oufadem
et al.
Journal articles
hal-01831600v1
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Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly
Quentin Thomas
,
Marialetizia Motta
,
Thierry Gautier
,
Maha Zaki
,
Andrea Ciolfi
et al.
Journal articles
hal-03790588v1
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NONO Detects the Nuclear HIV Capsid to Promote cGAS-Mediated Innate Immune Activation
Xavier Lahaye
,
Matteo Gentili
,
Aymeric Silvin
,
Cécile Conrad
,
Léa Picard
et al.
Journal articles
hal-02087780v1
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Next generation phenotyping using narrative reports in a rare disease clinical data warehouse
Nicolas Garcelon
,
Antoine Neuraz
,
Rémi Salomon
,
Nadia Bahi-Buisson
,
Jeanne Amiel
et al.
Journal articles
hal-03962363v1
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Cherubism as a systemic skeletal disease: evidence from an aggressive case
Anne Morice
,
Aline Joly
,
Manon Ricquebourg
,
Gérard Maruani
,
Emmanuel Durand
et al.
Journal articles
hal-02946606v1
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Proceedings of the fourth international conference on central hypoventilation
Ha Trang
,
Jean-François Brunet
,
Hermann Rohrer
,
Jorge Gallego
,
Jeanne Amiel
et al.
Journal articles
hal-01334669v1
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ADAR1 mediated regulation of neural crest derived melanocytes and Schwann cell development
Nadjet Gacem
,
Anthula Kavo
,
Lisa Zerad
,
Laurence Richard
,
Stephane Mathis
et al.
Journal articles
inserm-02494188v1
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Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects
Dennis Mircsof
,
Maéva Langouët Langouët
,
Marlène Rio
,
Sébastien Moutton
,
Karine Siquier-Pernet
et al.
Journal articles
hal-02088168v1
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De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development
Christopher Gordon
,
Shifeng Xue
,
Gökhan Yigit
,
Hicham Filali
,
Kelan Chen
et al.
Journal articles
hal-01617529v1
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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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