The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis.
Erich Roessler
,
Kenia B. El-Jaick
,
Christèle Dubourg
,
Jorge I. Vélez
,
Benjamin D. Solomon
et al.
Journal articles
inserm-00406224v1
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Chromosome marqueur surnuméraire dérivé du 19 en mosaïque : à propos d’un cas
Elouan Chérot
,
Frédéric Dugay
,
Christèle Dubourg
,
Mélanie Fradin
,
Vincent Jauffret
et al.
Morphologie , 2015, 20es Journées du Collège des Histologistes, Embryologistes et Cytogénéticiens - Paris 12-14 mars 2015, 99 (327), pp.166--167.
⟨10.1016/j.morpho.2015.09.039⟩
Journal articles
hal-01245005v1
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Twelve new patients with 13q deletion syndrome: Genotype-phenotype analyses in progress.
Chloé Quélin
,
Claude Bendavid
,
Christèle Dubourg
,
Céline de La Rochebrochard
,
Josette Lucas
et al.
Journal articles
istex
inserm-00353241v1
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Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway
Christèle Dubourg
,
Wilfrid Carré
,
Houda Hamdi-Rozé
,
Charlotte Mouden
,
Joëlle Roume
et al.
Journal articles
hal-01439363v1
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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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Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans.
Erich Roessler
,
Yong Ma
,
Maia Ouspenskaia
,
Felicitas Lacbawan
,
Claude Bendavid
et al.
Journal articles
inserm-00366120v1
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TCF4 deletions in Pitt-Hopkins Syndrome.
Irina Giurgea
,
Chantal Missirian
,
Pierre Cacciagli
,
Sandra Whalen
,
Tessa Fredriksen
et al.
Journal articles
inserm-00325404v1
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Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein.
Yongsu Jeong
,
Federico Coluccio Leskow
,
Kenia B. El-Jaick
,
Erich Roessler
,
Maximilian Muenke
et al.
Journal articles
inserm-00353024v1
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2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?
Sylvie Jaillard
,
Christèle Dubourg
,
Marion Gérard-Blanluet
,
Andrée Delahaye
,
Laurent Pasquier
et al.
Journal articles
inserm-00325658v1
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Regulation of downstream neuronal genes by proneural transcription factors during initial neurogenesis in the vertebrate brain
Michelle Ware
,
Houda Hamdi-Rozé
,
Julien Le Friec
,
Véronique David
,
Valérie Dupé
et al.
Journal articles
hal-01439379v1
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Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing
Charlotte Mouden
,
Christèle Dubourg
,
Wilfrid Carré
,
Sophie Rose
,
Chloé Quélin
et al.
Journal articles
hal-01259228v1
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Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia
Claire Guissart
,
Xenia Latypova
,
Paul Rollier
,
Tahir Khan
,
Hannah Stamberger
et al.
Journal articles
hal-01796580v1
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Homozygous STIL Mutation Causes Holoprosencephaly and Microcephaly in Two Siblings.
Charlotte Mouden
,
Marie de Tayrac
,
Christèle Dubourg
,
Sophie Rose
,
Wilfrid Carré
et al.
Journal articles
hal-01116427v1
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Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: array CGH study of 47 unrelated cases.
Caroline Schluth-Bolard
,
Bruno Delobel
,
Damien Sanlaville
,
Odile Boute
,
Jean-Marie Cuisset
et al.
Journal articles
inserm-00405484v1
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MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations.
Nathalie Le Meur
,
Muriel Holder-Espinasse
,
Sylvie Jaillard
,
Alice Goldenberg
,
Sylvie Joriot
et al.
Journal articles
inserm-00406331v1
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Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases.
Laurent Pasquier
,
Pascale Marcorelles
,
Philippe Loget
,
Fanny Pelluard
,
Dominique Carles
et al.
Journal articles
inserm-00353294v1
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The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism.
Erich Roessler
,
Felicitas Lacbawan
,
Christèle Dubourg
,
Aimee Paulussen
,
Jos Herbergs
et al.
Journal articles
inserm-00365990v1
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A new mutation in the hepcidin promoter impairs its BMP response and contributes to a severe phenotype in HFE related hemochromatosis.
Marie-Laure Island
,
Anne-Marie Jouanolle
,
Annick Mosser
,
Yves Deugnier
,
Véronique David
et al.
Journal articles
inserm-00372237v1
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Array-CGH analysis indicates a high prevalence of genomic rearrangements in holoprosencephaly: an updated map of candidate loci.
Claude Bendavid
,
Lucie Rochard
,
Christèle Dubourg
,
Jonathan Seguin
,
Isabelle Gicquel
et al.
Journal articles
inserm-00404487v1
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Array-CGH diagnosis in ovarian failure: identification of new molecular actors for ovarian physiology
Sylvie Jaillard
,
Linda Akloul
,
Marion Beaumont
,
Houda Hamdi-Rozé
,
Christèle Dubourg
et al.
Journal articles
hal-01390979v1
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Insuffisance ovarienne prématurée chez deux patientes présentant une délétion Xq
Vincent Jauffret
,
Célia Ravel
,
Elouan Chérot
,
Christèle Dubourg
,
Martine Blayau
et al.
Morphologie , 2015, 20es Journées du Collège des Histologistes, Embryologistes et Cytogénéticiens - Paris 12-14 mars 2015, 99 (327), pp.168.
⟨10.1016/j.morpho.2015.09.043⟩
Journal articles
hal-01245011v1
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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.
Journal articles
istex
hal-01237099v1
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