Julie Désir

Julie Désir

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Julie Désir

Julie Désir

Publications by authors named "Julie Désir"

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39Publications

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Novel features of PIK3CA-Related Overgrowth Spectrum: Lesson from an aborted fetus presenting a de novo constitutional PIK3CA mutation.

Eur J Med Genet 2019 Sep 27:103775. Epub 2019 Sep 27.

Department of Obstetrics and Gynecology, Hôpital Erasme, Université Libre de Bruxelles, Brussels, Belgium.

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http://dx.doi.org/10.1016/j.ejmg.2019.103775DOI Listing
September 2019

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Authors:
Brett V Johnson Raman Kumar Sabrina Oishi Suzy Alexander Maria Kasherman Michelle Sanchez Vega Atma Ivancevic Alison Gardner Deepti Domingo Mark Corbett Euan Parnell Sehyoun Yoon Tracey Oh Matthew Lines Henrietta Lefroy Usha Kini Margot Van Allen Sabine Grønborg Sandra Mercier Sébastien Küry Stéphane Bézieau Laurent Pasquier Martine Raynaud Alexandra Afenjar Thierry Billette de Villemeur Boris Keren Julie Désir Lionel Van Maldergem Martina Marangoni Nicola Dikow David A Koolen Peter M VanHasselt Marjan Weiss Petra Zwijnenburg Joaquim Sa Claudia Falcao Reis Carlos López-Otín Olaya Santiago-Fernández Alberto Fernández-Jaén Anita Rauch Katharina Steindl Pascal Joset Amy Goldstein Suneeta Madan-Khetarpal Elena Infante Elaine Zackai Carey Mcdougall Vinodh Narayanan Keri Ramsey Saadet Mercimek-Andrews Loren Pena Vandana Shashi Kelly Schoch Jennifer A Sullivan Filippo Pinto E Vairo Pavel N Pichurin Sarah A Ewing Sarah S Barnett Eric W Klee M Scott Perry Mary Kay Koenig Catherine E Keegan Jane L Schuette Stephanie Asher Yezmin Perilla-Young Laurie D Smith Jill A Rosenfeld Elizabeth Bhoj Paige Kaplan Dong Li Renske Oegema Ellen van Binsbergen Bert van der Zwaag Marie Falkenberg Smeland Ioana Cutcutache Matthew Page Martin Armstrong Angela E Lin Marcie A Steeves Nicolette den Hollander Mariëtte J V Hoffer Margot R F Reijnders Serwet Demirdas Daniel C Koboldt Dennis Bartholomew Theresa Mihalic Mosher Scott E Hickey Christine Shieh Pedro A Sanchez-Lara John M Graham Kamer Tezcan G B Schaefer Noelle R Danylchuk Alexander Asamoah Kelly E Jackson Naomi Yachelevich Margaret Au Luis A Pérez-Jurado Tjitske Kleefstra Peter Penzes Stephen A Wood Thomas Burne Tyler Mark Pierson Michael Piper Jozef Gécz Lachlan A Jolly

Biol Psychiatry 2019 Jun 29. Epub 2019 Jun 29.

University of Adelaide and Robinson Research Institute, Adelaide, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.biopsych.2019.05.028DOI Listing
June 2019

First Report on Fetal Cerebral Polyglucosan Bodies in Mucopolysaccharidosis Type VII.

Case Rep Pediatr 2017 10;2017:9523427. Epub 2017 Jul 10.

Unit of Fetal Pathology, CHU Brugmann-HUDERF, ULB, Brussels, Belgium.

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http://dx.doi.org/10.1155/2017/9523427DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5523543PMC
July 2017

Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy.

Am J Med Genet A 2016 11 22;170(11):2927-2933. Epub 2016 Jun 22.

Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Charleroi (Gosselies), Belgium.

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http://dx.doi.org/10.1002/ajmg.a.37792DOI Listing
November 2016

RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes.

Am J Hum Genet 2015 Jul 11;97(1):153-62. Epub 2015 Jun 11.

INSERM UMR S933, Université Pierre et Marie Curie (Paris 6), Sorbonne Universités, Paris 75012, France; Service de Génétique et Embryologie Médicales, Hôpital Armand Trousseau, Assistance Publique - Hôpitaux de Paris, Paris 75012, France.

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http://dx.doi.org/10.1016/j.ajhg.2015.05.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4571005PMC
July 2015

TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy.

Mol Vis 2012 5;18:1849-57. Epub 2012 Jul 5.

Center for Medical Genetics, Hospital Erasme, ULB, 808 route de Lennik, Brussels, Belgium.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3398502PMC
November 2012

Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus.

J Med Genet 2012 Nov 5;49(11):708-12. Epub 2012 Oct 5.

Institute of Interdisciplinary Research – IRIBHM, Université Libre de Bruxelles, Brussels, Belgium.

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http://dx.doi.org/10.1136/jmedgenet-2012-101190DOI Listing
November 2012

Spondyloperipheral dysplasia as the mosaic form of platyspondylic lethal skeletal dyplasia torrance type in mother and fetus with the same COL2A1 mutation.

Am J Med Genet A 2012 Aug 11;158A(8):1948-52. Epub 2012 Apr 11.

Medical Genetics Department, Hôpital Erasme-ULB, Brussels, Belgium.

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http://dx.doi.org/10.1002/ajmg.a.35301DOI Listing
August 2012

Iron overload in gestational alloimmune liver disease: still more questions than answers.

Prenat Diagn 2012 Aug 4;32(8):810-2. Epub 2012 May 4.

Neonatal Intensive Care Unit, CHU Charleroi, Charleroi, Belgium.

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http://dx.doi.org/10.1002/pd.3887DOI Listing
August 2012

Sex differences in inflammatory cytokines and CD99 expression following in vitro lipopolysaccharide stimulation.

Shock 2012 Jul;38(1):37-42

Department of Pulmonology, Allergology and Cystic Fibrosis, Hôpital Universitaire des Enfants Reine Fabiola, Brussels, Belgium.

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http://dx.doi.org/10.1097/SHK.0b013e3182571e46DOI Listing
July 2012

Gender differences and inflammation: an in vitro model of blood cells stimulation in prepubescent children.

J Inflamm (Lond) 2010 Jun 2;7:28. Epub 2010 Jun 2.

Department of Pulmonology and Allergology, Université Libre de Bruxelles (ULB), University Children's Hospital Queen Fabiola, Avenue J,J, Crocq 15, Brussels, 1020, Belgium.

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http://dx.doi.org/10.1186/1476-9255-7-28DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2890631PMC
June 2010

Primary microcephaly with ASPM mutation shows simplified cortical gyration with antero-posterior gradient pre- and post-natally.

Am J Med Genet A 2008 Jun;146A(11):1439-43

Department of Medical Genetics, Hopital Erasme, Brussels, Belgium.

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http://dx.doi.org/10.1002/ajmg.a.32312DOI Listing
June 2008

Mutation of a potassium channel-related gene in progressive myoclonic epilepsy.

Ann Neurol 2007 Jun;61(6):579-86

Department of Pediatric Neurology, Université Libre de Bruxelles, Hôpital Erasme, Brussels, Belgium.

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http://dx.doi.org/10.1002/ana.21121DOI Listing
June 2007