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Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis
Ange-Line Bruel
,
Alice Masurel-Paulet
,
Jean-Baptiste Rivière
,
Yannis Duffourd
,
Frédéric Huet
et al.
Article dans une revue
hal-01405113v1
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Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability
Alexandra Gauthier-Vasserot
,
Christel Thauvin-Robinet
,
Ange-Line Bruel
,
Yannis Duffourd
,
Judith Saint-Onge
et al.
Article dans une revue
hal-01410416v1
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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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Compassionate use of everolimus for refractory epilepsy in a patient with MTOR mosaic mutation
Nawale Hadouiri
,
Veronique Darmency
,
Laurent Guibaud
,
Alexis Arzimanoglou
,
Arthur Sorlin
et al.
Article dans une revue
hal-03491487v1
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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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A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome
Paul Masurel-Paulet
,
Amélie Piton
,
Sophie Chancenotte
,
Claire Redin
,
Christel Thauvin-Robinet
et al.
Article dans une revue
istex
hal-01680171v1
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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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Partly Fermented Infant Formulae With Specific Oligosaccharides Support Adequate Infant Growth and Are Well-Tolerated
Frédéric Huet
,
Marieke Abrahamse-Berkeveld
,
Sebastian Tims
,
Umberto Siméoni
,
Gérard Beley
et al.
Article dans une revue
hal-01593717v1
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Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test
Julien Thevenon
,
Yannis Duffourd
,
Alice Masurel-Paulet
,
M. . Lefebvre
,
François Feillet
et al.
Article dans une revue
hal-01405124v1
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Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life
Julien Thévenon
,
Mathieu Milh
,
François Feillet
,
Judith St-Onge
,
Yannis Duffourd
et al.
Article dans une revue
hal-01668025v1
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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.
Article dans une revue
hal-01670135v1
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Toward the Standardization of Mycological Examination of Sputum Samples in Cystic Fibrosis : Results from a French Multicenter Prospective Study
Noémie Coron
,
Marc Pihet
,
Emilie Fréalle
,
Yolande Lemeille
,
Claudine Pinel
et al.
Article dans une revue
hal-01618715v1
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Epidemiological and clinical features of hMPV, RSV and RVs infections in young children.
Catherine Manoha
,
Sophie Espinosa
,
Serge-Ludwig Aho
,
Frédéric Huet
,
Pierre Pothier
et al.
Article dans une revue
istex
hal-00465382v1
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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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Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: towards recommendation for molecular testing and management
Magali Avila
,
David A. Dyment
,
Jørn V. Sagen
,
Judith St-Onge
,
Ute Moog
et al.
Article dans une revue
hal-01225503v1
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Clinical and molecular spectrum of renal malformations in Kabuki syndrome
Jean-Benoît Courcet
,
Laurence Faivre
,
Caroline Michot
,
Antoine Burguet
,
Stéphanie Perez-Martin
et al.
Article dans une revue
hal-01064380v1
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Heterozygous deletion of the LRFN2 gene is associated with working memory deficits
Julien Thevenon
,
Céline Souchay
,
Gail K Seabold
,
Inna Dygai-Cochet
,
Patrick Callier
et al.
Article dans une revue
hal-01405814v1
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Diversity of the clinical presentation of the MMR gene biallelic mutations
Gaëlle Bougeard
,
Laurence Olivier-Faivre
,
Stéphanie Baert-Desurmont
,
Julie Tinat
,
Cosette Martin
et al.
Article dans une revue
hal-03106912v1
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Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome
Laurence Faivre
,
Amélie Piton
,
Helene Poquet,
,
Paul Kuentz
,
Julien Thevenon
et al.
Article dans une revue
hal-01560313v1
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Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations.
Laurence Faivre
,
Alice Masurel-Paulet
,
Gwenaëlle Collod-Béroud
,
Bert L. Callewaert
,
Anne H. Child
et al.
Article dans une revue
inserm-00396263v1
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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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Randomised controlled trial demonstrates that fermented infant formula with short-chain galacto-oligosaccharides and long-chain fructo-oligosaccharides reduces the incidence of infantile colic
Yvan Vandenplas
,
Thomas Ludwig
,
Hetty Bouritius
,
Philippe Alliet
,
Derek Forde
et al.
Article dans une revue
hal-01609090v1
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De novo 15q21.1q21.2 deletion identified through FBN1 MLPA and refined by 244K array-CGH in a female teenager with incomplete Marfan syndrome
Laurence Faivre
,
Philippe Khau van Kien
,
Patrick Callier
,
Nathalie Ruiz-Pallares
,
Corinne Baudoin
et al.
Article dans une revue
hal-02446647v1
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Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility
Clothilde Esteve
,
Ludmila Francescatto
,
Perciliz Tan
,
Aurélie Bourchany
,
Cécile de Leusse
et al.
Article dans une revue
hal-01721495v1
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Expanding the Phenotype Associated with NAA10 Related N-terminal Acetylation Deficiency
Chloé Saunier
,
Svein Isungset Støve
,
Bernt Popp
,
Bénédicte Gérard
,
Marina Blenski
et al.
Article dans une revue
hal-01314294v1
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Associations between cognitive performance and the rehabilitation, medical care and social support provided to French children with Prader-Willi syndrome
Pierre-Henri Roux-Levy
,
Marie Bournez
,
Alice Masurel
,
Nolwenn Jean
,
Sophie Chancenotte
et al.
Article dans une revue
hal-03338019v1
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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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CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders
Christel Thauvin-Robinet
,
Anne Munck
,
Frédéric Huet
,
Alix de Becdelièvre
,
Clément Jimenez
et al.
Article dans une revue
istex
hal-02446166v1
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