Pierre Landrieu

Pierre Landrieu

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Pierre Landrieu

Pierre Landrieu

Publications by authors named "Pierre Landrieu"

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33Publications

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Distal duplication of chromosome 16q22.1q23.1 in a Vietnamese patient with midface hypoplasia and intellectual disability.

Am J Med Genet A 2018 09 4;176(9):1981-1984. Epub 2018 Sep 4.

Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Imagine Institute, Paris, France.

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http://doi.wiley.com/10.1002/ajmg.a.40375
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http://dx.doi.org/10.1002/ajmg.a.40375DOI Listing
September 2018

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.

Nat Genet 2016 10 29;48(10):1185-92. Epub 2016 Aug 29.

Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, Manchester, UK.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5045717PMC
http://dx.doi.org/10.1038/ng.3661DOI Listing
October 2016

MR angiography findings in infants with neonatal arterial ischemic stroke in the middle cerebral artery territory: A prospective study using circle of Willis MR angiography.

Eur J Radiol 2016 Jul 6;85(7):1329-35. Epub 2016 May 6.

Department of Paediatric Physical Medicine and Rehabilitation, French Centre for Paediatric Stroke, St-Étienne Hospital, France; INSERM & University of Lyon/St Etienne, Dysfonction vasculaire et hémostase (DVA) Team, U1090 Sainbiose, St. Etienne, France.

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http://dx.doi.org/10.1016/j.ejrad.2016.05.002DOI Listing
July 2016

Unusual clinical expression and long survival of a pseudouridylate synthase (PUS1) mutation into adulthood.

Eur J Hum Genet 2015 Jun 17;23(6):880-2. Epub 2014 Sep 17.

INSERM U1163, Université Paris Descartes, Sorbonne Paris Cité, Institut IMAGINE, 24 Boulevard du Montparnasse, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2014.192DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795040PMC
June 2015

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Authors:
Yanick J Crow Diana S Chase Johanna Lowenstein Schmidt Marcin Szynkiewicz Gabriella M A Forte Hannah L Gornall Anthony Oojageer Beverley Anderson Amy Pizzino Guy Helman Mohamed S Abdel-Hamid Ghada M Abdel-Salam Sam Ackroyd Alec Aeby Guillermo Agosta Catherine Albin Stavit Allon-Shalev Montse Arellano Giada Ariaudo Vijay Aswani Riyana Babul-Hirji Eileen M Baildam Nadia Bahi-Buisson Kathryn M Bailey Christine Barnerias Magalie Barth Roberta Battini Michael W Beresford Geneviève Bernard Marika Bianchi Thierry Billette de Villemeur Edward M Blair Miriam Bloom Alberto B Burlina Maria Luisa Carpanelli Daniel R Carvalho Manuel Castro-Gago Anna Cavallini Cristina Cereda Kate E Chandler David A Chitayat Abigail E Collins Concepcion Sierra Corcoles Nuno J V Cordeiro Giovanni Crichiutti Lyvia Dabydeen Russell C Dale Stefano D'Arrigo Christian G E L De Goede Corinne De Laet Liesbeth M H De Waele Ines Denzler Isabelle Desguerre Koenraad Devriendt Maja Di Rocco Michael C Fahey Elisa Fazzi Colin D Ferrie António Figueiredo Blanca Gener Cyril Goizet Nirmala R Gowrinathan Kalpana Gowrishankar Donncha Hanrahan Bertrand Isidor Bülent Kara Nasaim Khan Mary D King Edwin P Kirk Ram Kumar Lieven Lagae Pierre Landrieu Heinz Lauffer Vincent Laugel Roberta La Piana Ming J Lim Jean-Pierre S-M Lin Tarja Linnankivi Mark T Mackay Daphna R Marom Charles Marques Lourenço Shane A McKee Isabella Moroni Jenny E V Morton Marie-Laure Moutard Kevin Murray Rima Nabbout Sheela Nampoothiri Noemi Nunez-Enamorado Patrick J Oades Ivana Olivieri John R Ostergaard Belén Pérez-Dueñas Julie S Prendiville Venkateswaran Ramesh Magnhild Rasmussen Luc Régal Federica Ricci Marlène Rio Diana Rodriguez Agathe Roubertie Elisabetta Salvatici Karin A Segers Gyanranjan P Sinha Doriette Soler Ronen Spiegel Tommy I Stödberg Rachel Straussberg Kathryn J Swoboda Mohnish Suri Uta Tacke Tiong Y Tan Johann te Water Naude Keng Wee Teik Maya Mary Thomas Marianne Till Davide Tonduti Enza Maria Valente Rudy Noel Van Coster Marjo S van der Knaap Grace Vassallo Raymon Vijzelaar Julie Vogt Geoffrey B Wallace Evangeline Wassmer Hannah J Webb William P Whitehouse Robyn N Whitney Maha S Zaki Sameer M Zuberi John H Livingston Flore Rozenberg Pierre Lebon Adeline Vanderver Simona Orcesi Gillian I Rice

Am J Med Genet A 2015 Feb 16;167A(2):296-312. Epub 2015 Jan 16.

INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes - Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, Paris, France; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1002/ajmg.a.36887DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382202PMC
February 2015

Early onset (childhood) monogenic neuropathies.

Handb Clin Neurol 2013 ;115:863-91

Department of Pediatric Neurology, CHU Paris sud, Hôpital Bicêtre, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/B978-0-444-52902-2.00049-7DOI Listing
April 2014

Hereditary motor-sensory, motor, and sensory neuropathies in childhood.

Handb Clin Neurol 2013 ;113:1413-32

Department of Paediatric Neurology, Université Paris Sud, Bicêtre Hospital, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/B978-0-444-59565-2.00011-3DOI Listing
March 2014

Mechanisms underlying a life-threatening skeletal muscle Na+ channel disorder.

J Physiol 2011 Jul 26;589(Pt 13):3115-24. Epub 2011 Apr 26.

University of Nice Sophia-Antipolis, and UMR 6097 CNRS-TIANP, Nice, France.

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http://dx.doi.org/10.1113/jphysiol.2011.207977DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3145928PMC
July 2011

New insights (and new interrogations) in perinatal arterial ischemic stroke.

Thromb Res 2011 Jan 4;127(1):13-22. Epub 2010 Nov 4.

Inserm CIE3, F-42055 Saint-Étienne, and CHU Saint-Etienne, Hôpital nord, Service de Néonatologie et de Réanimation Pédiatrique, Saint-Étienne F-42055, France.

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http://dx.doi.org/10.1016/j.thromres.2010.10.003DOI Listing
January 2011

Motor outcomes after neonatal arterial ischemic stroke related to early MRI data in a prospective study.

Pediatrics 2010 Oct 20;126(4):912-8. Epub 2010 Sep 20.

Department of Pediatric Radiology, Public Assistance Hospital of Paris, CHU Bicêtre, 78 avenue du Général Leclerc, 94275 Le Kremlin-Bicêtre Cedex, France.

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http://dx.doi.org/10.1542/peds.2009-3611DOI Listing
October 2010

Obstetrical and neonatal characteristics vary with birthweight in a cohort of 100 term newborns with symptomatic arterial ischemic stroke.

Eur J Paediatr Neurol 2010 May 21;14(3):206-13. Epub 2009 Jun 21.

Unit of Néonatologie et Réanimation Pédiatrique, Centre Hospitalier Universitaire, 42055 Saint-Etienne, France.

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http://dx.doi.org/10.1016/j.ejpn.2009.05.004DOI Listing
May 2010

Heterozygous FIC1 deficiency: a new genetic predisposition to transient neonatal cholestasis.

J Pediatr Gastroenterol Nutr 2010 Apr;50(4):447-9

Pediatric Hepatology, National Reference Centre for Biliary Atresia, INSERM 757, France.

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http://dx.doi.org/10.1097/MPG.0b013e3181cd2725DOI Listing
April 2010

Developmental dilatation of Virchow-Robin spaces: a genetic disorder?

Pediatr Neurol 2009 Oct;41(4):275-80

Service de Neurologie Pédiatrique, Assistance Publique-Hôpitaux de Paris, 94270 Kremlin-Bicêtre, France.

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http://dx.doi.org/10.1016/j.pediatrneurol.2009.04.026DOI Listing
October 2009

Rapid screening for nuclear genes mutations in isolated respiratory chain complex I defects.

Mol Genet Metab 2009 Apr 22;96(4):196-200. Epub 2009 Jan 22.

Laboratoire de Biochimie, APHP Hôpital de Bicêtre, 78, rue du Général Leclerc, 94275 Le Kremlin-Bicêtre Cedex, France.

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http://dx.doi.org/10.1016/j.ymgme.2008.12.003DOI Listing
April 2009

PHOX2B germline and somatic mutations in late-onset central hypoventilation syndrome.

Am J Respir Crit Care Med 2008 Apr 13;177(8):906-11. Epub 2007 Dec 13.

Département de Génétique, Hôpital Necker-Enfants Malades 149, rue de Sèvres, 75743 Paris Cedex 15, France.

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http://www.atsjournals.org/doi/abs/10.1164/rccm.200707-1079O
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http://dx.doi.org/10.1164/rccm.200707-1079OCDOI Listing
April 2008

Cerebral proliferative angiopathy: clinical and angiographic description of an entity different from cerebral AVMs.

Stroke 2008 Mar 31;39(3):878-85. Epub 2008 Jan 31.

Service de Neuroradiologie Diagnostique et Thérapeutique, Hôpital de Bicêtre, 78, rue du Général Leclerc, 94275 Le Kremlin-Bicêtre, France.

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http://dx.doi.org/10.1161/STROKEAHA.107.493080DOI Listing
March 2008

Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

Authors:
Gillian Rice Teresa Patrick Rekha Parmar Claire F Taylor Alec Aeby Jean Aicardi Rafael Artuch Simon Attard Montalto Carlos A Bacino Bruno Barroso Peter Baxter Willam S Benko Carsten Bergmann Enrico Bertini Roberta Biancheri Edward M Blair Nenad Blau David T Bonthron Tracy Briggs Louise A Brueton Han G Brunner Christopher J Burke Ian M Carr Daniel R Carvalho Kate E Chandler Hans-Jurgen Christen Peter C Corry Frances M Cowan Helen Cox Stefano D'Arrigo John Dean Corinne De Laet Claudine De Praeter Catherine Dery Colin D Ferrie Kim Flintoff Suzanna G M Frints Angels Garcia-Cazorla Blanca Gener Cyril Goizet Francoise Goutieres Andrew J Green Agnes Guet Ben C J Hamel Bruce E Hayward Arvid Heiberg Raoul C Hennekam Marie Husson Andrew P Jackson Rasieka Jayatunga Yong-Hui Jiang Sarina G Kant Amy Kao Mary D King Helen M Kingston Joerg Klepper Marjo S van der Knaap Andrew J Kornberg Dieter Kotzot Wilfried Kratzer Didier Lacombe Lieven Lagae Pierre Georges Landrieu Giovanni Lanzi Andrea Leitch Ming J Lim John H Livingston Charles M Lourenco E G Hermione Lyall Sally A Lynch Michael J Lyons Daphna Marom John P McClure Robert McWilliam Serge B Melancon Leena D Mewasingh Marie-Laure Moutard Ken K Nischal John R Ostergaard Julie Prendiville Magnhild Rasmussen R Curtis Rogers Dominique Roland Elisabeth M Rosser Kevin Rostasy Agathe Roubertie Amparo Sanchis Raphael Schiffmann Sabine Scholl-Burgi Sunita Seal Stavit A Shalev C Sierra Corcoles Gyan P Sinha Doriette Soler Ronen Spiegel John B P Stephenson Uta Tacke Tiong Yang Tan Marianne Till John L Tolmie Pam Tomlin Federica Vagnarelli Enza Maria Valente Rudy N A Van Coster Nathalie Van der Aa Adeline Vanderver Johannes S H Vles Thomas Voit Evangeline Wassmer Bernhard Weschke Margo L Whiteford Michel A A Willemsen Andreas Zankl Sameer M Zuberi Simona Orcesi Elisa Fazzi Pierre Lebon Yanick J Crow

Am J Hum Genet 2007 Oct 4;81(4):713-25. Epub 2007 Sep 4.

Leeds Institute of Molecular Medicine, St James's University Hospital, Leeds, LS9 7TF, UK.

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http://dx.doi.org/10.1086/521373DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2227922PMC
October 2007

[Daniel Alagille, pediatric hepatology and neurology].

Authors:
Pierre Landrieu

Arch Pediatr 2006 May;13 Spec No 1:11-4

AP-HP et université Paris XI, fédération de pédiatrie, service de neurologie pédiatrique, hôpital de Bicêtre, Le Kremlin-Bicêtre, France.

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May 2006

Aphasia owing to subcortical brain infarcts in childhood.

J Child Neurol 2005 Dec;20(12):1003-8

Service de Neurologie, Département de Pédiatrie, CHU Bicêtre, Paris, France.

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http://dx.doi.org/10.1177/08830738050200121401DOI Listing
December 2005

Progressive neuronal degeneration of childhood: prenatal diagnosis by MRI.

Prenat Diagn 2005 Apr;25(4):307-10

Department of Radiology, Hospital Antoine Béclère, 92140 Clamart, France.

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http://doi.wiley.com/10.1002/pd.1128
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http://dx.doi.org/10.1002/pd.1128DOI Listing
April 2005

Club feet with congenital perisylvian polymicrogyria possibly due to bifocal ischemic damage of the neuraxis in utero.

Am J Med Genet A 2004 Apr;126A(2):191-6

Service de Neurologie Pédiatrique, CHU Paris sud-Bicêtre, 94275 Paris Cedex, France.

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http://dx.doi.org/10.1002/ajmg.a.20562DOI Listing
April 2004

Relations between molecular and biological abnormalities in 11 families from siblings affected with methylenetetrahydrofolate reductase deficiency.

Eur J Pediatr 2003 Jul 6;162(7-8):466-475. Epub 2003 May 6.

Service Central d'Hématologie, Hopital Henri Mondor, 51 avenue du Maréchal de Lattre de Tassigny, 94010, Creteil, France.

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http://dx.doi.org/10.1007/s00431-003-1196-9DOI Listing
July 2003

Acute transverse myelitis in children: clinical course and prognostic factors.

J Child Neurol 2003 Jun;18(6):401-6

Service de Neurologie, Département de Pédiatrie, Cliniques Universitaires Saint Luc, Université Catholique de Louvain, Bruxelles, Belgium.

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http://dx.doi.org/10.1177/08830738030180060601DOI Listing
June 2003

Ischaemic stroke from dissection of the craniocervical arteries in childhood: report of 12 patients.

Eur J Paediatr Neurol 2003 ;7(1):39-42

Service de pédiatrie et génétique, Hôpital Nord, Saint-Etienne, France.

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http://dx.doi.org/10.1016/s1090-3798(02)00138-1DOI Listing
May 2003

Sturge-Weber disease with repercussion on the prenatal development of the cerebral hemisphere.

AJNR Am J Neuroradiol 2002 Mar;23(3):490-2

Department of Pediatric Neurology, CHU Paris Sud, Assistance Publique Hopitaux de Paris, Hopital de Bicêtre, France.

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March 2002