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

Inversion duplication deletions involving the long arm of chromosome 13: phenotypic description of additional three fetuses and genotype-phenotype correlation.

Chloe Quelin , Emmanuel Spaggiari , Suonavy Khung-Savatovsky , Celine Dupont , Laurent Pasquier et al.
American Journal of Medical Genetics Part A, 2014, 164A (10), pp.2504-9. ⟨10.1002/ajmg.a.36658⟩
Journal articles istex hal-01116584v1

Fetal costello syndrome with neuromuscular spindle excess and p.Gly12Val HRAS mutation

C. Quélin , P. Loget , C. Rozel , D. d'Hervé , M. Fradin et al.
European Journal of Medical Genetics, 2017, 60 (7), pp.395--398. ⟨10.1016/j.ejmg.2017.03.014⟩
Journal articles hal-01721406v1

Loss-of-function mutation of TRIP4 causes a novel form of congenital muscle disease and reveals the transcription coactivator ASC-1 as a new regulator of skeletal myogenesis

L. Davignon , C. Chauveau , C. Julien , C. Dill , L. Duband-Goulet et al.
Neuromuscular Disorders, 2016, 26 (suppl 2), pp.S118--S119. ⟨10.1016/j.nmd.2016.06.121⟩
Journal articles hal-01415936v1

OP0189 High Grade Salivary Gland Involvement, Assessed by Histology or Ultrasonography, Is Associated with a Poor Response to Rituximab in Primary Sjögren's Syndrome Patients: Figure 1

D. Cornec , S. Jousse-Joulin , Stéphane Costa , T. Marhadour , P. Marcorelles et al.
EULAR 2015, Jun 2015, Rome, Italy. ⟨10.1136/annrheumdis-2015-eular.4156⟩
Conference papers hal-01269953v1
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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.
Human Mutation, 2009, 30 (8), pp.1175-82. ⟨10.1002/humu.21016⟩
Journal articles inserm-00404487v1

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