Sandrine Passemard

Sandrine Passemard

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Sandrine Passemard

Sandrine Passemard

Publications by authors named "Sandrine Passemard"

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VPS51 biallelic variants cause microcephaly with brain malformations: A confirmatory report.

Eur J Med Genet 2019 Jun 14:103704. Epub 2019 Jun 14.

Center for Human Genetics, Centre Hospitalier Universitaire, University of Liege, Liege, Belgium.

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http://dx.doi.org/10.1016/j.ejmg.2019.103704DOI Listing
June 2019

Golgipathies in Neurodevelopment: A New View of Old Defects.

Dev Neurosci 2019 Mar 15:1-21. Epub 2019 Mar 15.

NeuroDiderot, INSERM UMR1141, Université Paris Diderot, Sorbonne Paris Cité, Paris, France,

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http://dx.doi.org/10.1159/000497035DOI Listing
March 2019

STIL balancing primary microcephaly and cancer.

Cell Death Dis 2018 01 19;9(2):65. Epub 2018 Jan 19.

PROTECT, INSERM, Université Paris Diderot, Sorbonne Paris Cité, Paris, France.

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http://dx.doi.org/10.1038/s41419-017-0101-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5833631PMC
January 2018

Phosphoglycerate dehydrogenase (PHGDH) deficiency without epilepsy mimicking primary microcephaly.

Am J Med Genet A 2017 Jul 25;173(7):1936-1942. Epub 2017 Apr 25.

Department of Genetics, APHP-Robert DEBRE University Hospital, Paris VII-Denis Diderot Medical School and INSERM UMR1141, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.38217DOI Listing
July 2017

Golgi trafficking defects in postnatal microcephaly: The evidence for "Golgipathies".

Prog Neurobiol 2017 06 2;153:46-63. Epub 2017 Apr 2.

PROTECT, INSERM, Université Paris Diderot, Sorbonne Paris Cité, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.pneurobio.2017.03.007DOI Listing
June 2017

ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects.

Am J Hum Genet 2016 Aug 28;99(2):451-9. Epub 2016 Jul 28.

Research Center for Epigenetic Disease, Institute of Molecular and Cellular Biosciences, The University of Tokyo, Tokyo 113-0032, Japan; CREST, Japan Science and Technology Agency, Kawaguchi, 332-0012, Japan.

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http://dx.doi.org/10.1016/j.ajhg.2016.06.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4974084PMC
August 2016

Angelman syndrome and isovaleric acidemia: What is the link?

Mol Genet Metab Rep 2015 Jun 30;3:36-8. Epub 2015 Mar 30.

Reference Center for Inborn Errors of Metabolism, Hôpital Robert Debré, APHP, Paris, France; Department of Child Neurology, Hôpital Robert Debré, APHP, Paris, France; Inserm U1141, Hôpital Robert Debré, Université Paris-Diderot, Sorbonne Paris Cité, Paris, France.

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http://dx.doi.org/10.1016/j.ymgmr.2015.03.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4750580PMC
June 2015

Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy.

Am J Hum Genet 2015 Apr 26;96(4):666-74. Epub 2015 Mar 26.

Medical Genetics Laboratory, INSERM U1112, Institute of Genetics and Medicine of Alsace, Strasbourg Medical School, University of Strasbourg, 67085 Strasbourg, France; Centre de Référence National pour les Affections Rares en Génétique Ophtalmologique, Hôpitaux Universitaires de Strasbourg, 67091 Strasbourg, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.02.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4385181PMC
April 2015

Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder.

Mol Autism 2015 25;6:19. Epub 2015 Mar 25.

INSERM, UMR 1130, Neuroscience Paris Seine, 9 quai Saint Bernard, 75005 Paris, France ; CNRS, UMR 8246, Neuroscience Paris Seine, 9 quai Saint Bernard, 75005 Paris, France ; Sorbonne Universités, UPMC Univ Paris 6, Institut de Biologie Paris-Seine, 9 quai Saint Bernard, 75005 Paris, France.

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http://www.molecularautism.com/content/6/1/19
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http://dx.doi.org/10.1186/s13229-015-0015-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4384291PMC
April 2015

A case of Lennox-Gastaut syndrome in a patient with FOXG1-related disorder.

Epilepsia 2014 Nov 29;55(11):e116-9. Epub 2014 Sep 29.

AP-HP, Pediatric Neurology Department, Hospital Robert Debré, Paris, France; Inserm, U1141, Paris, France; Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples, Italy.

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http://dx.doi.org/10.1111/epi.12800DOI Listing
November 2014

Microcephaly.

Handb Clin Neurol 2013 ;111:129-41

Department of Genetics, Hôpital Robert Debré, Paris, France; Inserm U676 and Medical School, Denis Diderot-Paris VII University, Paris, France.

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http://dx.doi.org/10.1016/B978-0-444-52891-9.00013-0DOI Listing
April 2014

Loss of α1β1 soluble guanylate cyclase, the major nitric oxide receptor, leads to moyamoya and achalasia.

Am J Hum Genet 2014 Mar 27;94(3):385-94. Epub 2014 Feb 27.

Institut National de la Santé et de la Recherche Médicale U1161, 75010 Paris, France; UMR-S1161, Génétique des Maladies Vasculaires, Université Paris Diderot, Sorbonne Paris Cité, 75010 Paris, France; Service de Génétique Moléculaire Neurovasculaire, Centre de Référence des Maladies Vasculaires Rares du Cerveau et de l'Oeil, Groupe Hospitalier Saint-Louis Lariboisière-Fernand-Widal, Assistance Publique - Hôpitaux de Paris, 75010 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.01.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3951937PMC
March 2014

A de novo 17q21.2 duplication in a boy with developmental delay and dysmorphic features.

Eur J Med Genet 2013 Apr 19;56(4):226-8. Epub 2013 Jan 19.

Départment of Genetics, Univ Paris Diderot Sorbonne Paris Cité, Robert Debré Hospital, Paris, France.

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http://dx.doi.org/10.1016/j.ejmg.2012.12.005DOI Listing
April 2013

A familial syndromal form of omphalocele.

Eur J Med Genet 2011 May-Jun;54(3):337-40. Epub 2011 Feb 17.

Clinical Genetics Unit, University Hospital, Pointe-à-Pitre University Hospital, Guadalupe Island, France.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212110001
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http://dx.doi.org/10.1016/j.ejmg.2011.02.001DOI Listing
September 2011

VIP-induced neuroprotection of the developing brain.

Curr Pharm Des 2011 ;17(10):1036-9

Inserm, U676, Paris, France.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3370262PMC
September 2011

Aphallia, lung agenesis and multiple defects of blastogenesis.

Fetal Pediatr Pathol 2011 ;30(1):22-6

Department of Medical Genetics, APHP Robert Debré Hospital, Paris, France.

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http://dx.doi.org/10.3109/15513815.2010.494698DOI Listing
April 2011

Craniosynostosis: A rare complication of pycnodysostosis.

Eur J Med Genet 2010 Mar-Apr;53(2):89-92. Epub 2010 Jan 5.

Department of Genetics, AP-HP Robert DEBRE University Hospital, Paris, France.

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http://dx.doi.org/10.1016/j.ejmg.2009.12.001DOI Listing
July 2010

Autosomal recessive primary microcephalies (MCPH).

Eur J Paediatr Neurol 2009 Sep 5;13(5):458. Epub 2008 Sep 5.

Inserm U676, Hôpital Robert Debré, 48 Bolevard Serurier, 75019 Paris, France.

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http://linkinghub.elsevier.com/retrieve/pii/S109037980800150
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http://dx.doi.org/10.1016/j.ejpn.2008.07.010DOI Listing
September 2009

Embryonic depletion of serotonin affects cortical development.

Eur J Neurosci 2007 Jul;26(2):331-44

Department of Anatomy and Developmental Biology, University College London, London, UK.

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http://dx.doi.org/10.1111/j.1460-9568.2007.05661.xDOI Listing
July 2007