Search - Université de Rennes Access content directly

Filter your results

22 Results
Structure: Internal structure identifier : 74578

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.
Human Mutation, 2009, 30 (10), pp.E921-35. ⟨10.1002/humu.21090⟩
Journal articles inserm-00406224v1

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

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.
European Journal of Medical Genetics, 2009, 52 (1), pp.41-6. ⟨10.1016/j.ejmg.2008.10.002⟩
Journal articles istex inserm-00353241v1
Image document

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.
Human Mutation, 2016, 37 (12), pp.1329-1339. ⟨10.1002/humu.23038⟩
Journal articles hal-01439363v1
Image document

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.
American Journal of Medical Genetics Part A, 2015, 167 (6), pp.1252--1261. ⟨10.1002/ajmg.a.36932⟩
Journal articles istex hal-01165441v1

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.
Human Genetics, 2009, 125 (4), pp.393-400. ⟨10.1007/s00439-009-0628-7⟩
Journal articles inserm-00366120v1

TCF4 deletions in Pitt-Hopkins Syndrome.

Irina Giurgea , Chantal Missirian , Pierre Cacciagli , Sandra Whalen , Tessa Fredriksen et al.
Human Mutation, 2008, 29 (11), pp.E242-51. ⟨10.1002/humu.20859⟩
Journal articles inserm-00325404v1

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.
Nature Genetics, 2008, 40 (11), pp.1348-53. ⟨10.1038/ng.230⟩
Journal articles inserm-00353024v1
Image document

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 of Medical Genetics, 2009, 46 (12), pp.847-55. ⟨10.1136/jmg.2008.058156⟩
Journal articles inserm-00325658v1

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.
Neural Development, 2016, 11 (1), pp.22. ⟨10.1186/s13064-016-0077-7⟩
Journal articles hal-01439379v1
Image document

Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing

Charlotte Mouden , Christèle Dubourg , Wilfrid Carré , Sophie Rose , Chloé Quélin et al.
Clinical Genetics, 2016, 89 (6), pp.659-668. ⟨10.1111/cge.12722⟩
Journal articles hal-01259228v1
Image document

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.
American Journal of Human Genetics, 2018, 102 (5), pp.744 - 759. ⟨10.1016/j.ajhg.2018.02.021⟩
Journal articles hal-01796580v1

Homozygous STIL Mutation Causes Holoprosencephaly and Microcephaly in Two Siblings.

Charlotte Mouden , Marie de Tayrac , Christèle Dubourg , Sophie Rose , Wilfrid Carré et al.
PLoS ONE, 2015, 10 (2), pp.e0117418. ⟨10.1371/journal.pone.0117418⟩
Journal articles hal-01116427v1
Image document

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.
European Journal of Medical Genetics, 2009, 52 (5), pp.291-6. ⟨10.1016/j.ejmg.2009.05.011⟩
Journal articles inserm-00405484v1
Image document

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 of Medical Genetics, 2010, 47 (1), pp.22-9. ⟨10.1136/jmg.2009.069732⟩
Journal articles inserm-00406331v1

Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases.

Laurent Pasquier , Pascale Marcorelles , Philippe Loget , Fanny Pelluard , Dominique Carles et al.
Acta Neuropathologica, 2009, 117 (2), pp.185-200. ⟨10.1007/s00401-008-0469-9⟩
Journal articles inserm-00353294v1

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.
Human Mutation, 2009, 30 (4), pp.E541-54. ⟨10.1002/humu.20982⟩
Journal articles inserm-00365990v1
Image document

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.
Haematologica, 2009, 94 (5), pp.720-4. ⟨10.3324/haematol.2008.001784⟩
Journal articles inserm-00372237v1
Image document

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.
Human Mutation, 2009, 30 (8), pp.1175-82. ⟨10.1002/humu.21016⟩
Journal articles inserm-00404487v1
Image document

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 of Ovarian Research, 2016, 9 (1), pp.63. ⟨10.1186/s13048-016-0272-5⟩
Journal articles hal-01390979v1

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

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.
American Journal of Medical Genetics Part A, 2016, 170 (1), pp.116-129. ⟨10.1002/ajmg.a.37384⟩
Journal articles istex hal-01237099v1