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Murine MPDZ ‐linked hydrocephalus is caused by hyperpermeability of the choroid plexus
Daphne Lehalle
,
Umut Altunoglu
,
Ange‐line Bruel
,
Mirna Assoum
,
Yannis Duffourd
et al.
Article dans une revue
hal-02904510v1
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Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis
Sophie Nambot
,
Julien Thévenon
,
Paul Kuentz
,
Yannis Duffourd
,
Emilie Tisserant
et al.
Article dans une revue
hal-01635326v1
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Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability
Martin Chevarin
,
Yannis Duffourd
,
Rebecca a Barnard
,
Sébastien Moutton
,
François Lecoquierre
et al.
Article dans une revue
hal-03619568v1
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Clinical delineation of a subtype of frontonasal dysplasia with creased nasal ridge and upper limb anomalies: Report of six unrelated patients
Daphné Lehalle
,
Umut Altunoglu
,
Ange-Line Bruel
,
Eric Arnaud
,
Patricia Blanchet
et al.
Article dans une revue
hal-01661829v1
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High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics
Quentin Thomas
,
Antonio Vitobello
,
Frédéric Tran Mau-Them
,
Yannis Duffourd
,
Agnès Fromont
et al.
Communication dans un congrès
hal-03463169v1
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Delineation of the 3p14.1p13 Microdeletion Associated With Syndromic Distal Limb Contractures
Julien Thevenon
,
Nicole Monnier
,
Patrick Callier
,
Klaus Dieterich
,
Michel Francoise
et al.
Article dans une revue
istex
inserm-01120832v1
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Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20
Aurélien Juven
,
Sophie Nambot
,
Amélie Piton
,
Nolwenn Jean-Marçais
,
Alice Masurel
et al.
Article dans une revue
hal-02883449v1
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Pathology of Rotavirus-driven Multiple Organ Failure in a 16-month-old Boy
Georges Tarris
,
Gaël Belliot
,
Patrick Callier
,
Frédéric Huet
,
Laurent Martin
et al.
Article dans une revue
hal-02380000v1
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Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders
Frederic Tran Mau-Them
,
Sebastien Moutton
,
Caroline Racine
,
Antonio Vitobello
,
Ange-Line Bruel
et al.
Article dans une revue
hal-03573698v1
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High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics
Quentin Thomas
,
Antonio Vitobello
,
Frederic Tran Mau-Them
,
Yannis Duffourd
,
Agnès Fromont
et al.
Article dans une revue
hal-03266264v1
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A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability.
Anne-Laure Mosca-Boidron
,
Lucie Gueneau
,
Guillaume Huguet
,
Alice Goldenberg
,
Céline Henry
et al.
Article dans une revue
pasteur-01342825v1
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Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1.
Estelle Lopez
,
Patrick Callier
,
Valérie Cormier-Daire
,
Didier Lacombe
,
Anne Moncla
et al.
Article dans une revue
istex
inserm-00662892v1
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Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling
Patrick Callier
,
Pierre Calvel
,
Armine Matevossian
,
Periklis Makrythanasis
,
Pascal Bernard
et al.
Article dans une revue
hal-01063929v1
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Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities
Virginie Carmignac
,
Cyril Mignot
,
Emmanuelle Blanchard
,
Paul Kuentz
,
Marie-Hélène Aubriot-Lorton
et al.
Article dans une revue
hal-03602359v1
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9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping
Sophie Nambot
,
Alice Masurel
,
Salima El Chehadeh
,
Anne-Laure Mosca-Boidron
,
Christel Thauvin-Robinet
et al.
Article dans une revue
hal-01400905v1
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Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients
Salima El Chehadeh
,
Laurence Faivre
,
Anne-Laure Mosca-Boidron
,
Valérie Malan
,
Jeanne Amiel
et al.
Article dans une revue
istex
hal-01237099v1
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A constitutive BCL2 down-regulation aggravates the phenotype of PKD1-mutant-induced polycystic kidney disease
Laurence Duplomb
,
Droin N.
,
Olivier Bouchot
,
Christel Robinet Thauvin
,
Ange-Line Bruel
et al.
Article dans une revue
hal-01625528v1
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Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: A 7-year national survey
Mathilde Lefebvre
,
Damien Sanlaville
,
Nathalie Marle
,
Christel Thauvin-Robinet
,
Élodie Gautier
et al.
Article dans une revue
hal-01237103v1
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Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses
Aurélie Bourchany
,
Christel Thauvin-Robinet
,
Daphne Lehalle
,
Ange-Line Bruel
,
Paul Masurel-Paulet
et al.
Article dans une revue
hal-01626052v1
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