Publications by authors named "Anne Polvi"

12Publications

SLC18A3 variants lead to fetal akinesia deformation sequence early in pregnancy.

Am J Med Genet A 2019 07 6;179(7):1362-1365. Epub 2019 May 6.

Department of Clinical Genetics, HUSLAB, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.

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http://dx.doi.org/10.1002/ajmg.a.61186DOI Listing
July 2019

Rare coding variants in genes encoding GABA receptors in genetic generalised epilepsies: an exome-based case-control study.

Authors:
Patrick May Simon Girard Merle Harrer Dheeraj R Bobbili Julian Schubert Stefan Wolking Felicitas Becker Pamela Lachance-Touchette Caroline Meloche Micheline Gravel Cristina E Niturad Julia Knaus Carolien De Kovel Mohamad Toliat Anne Polvi Michele Iacomino Rosa Guerrero-López Stéphanie Baulac Carla Marini Holger Thiele Janine Altmüller Kamel Jabbari Ann-Kathrin Ruppert Wiktor Jurkowski Dennis Lal Raffaella Rusconi Sandrine Cestèle Benedetta Terragni Ian D Coombs Christopher A Reid Pasquale Striano Hande Caglayan Auli Siren Kate Everett Rikke S Møller Helle Hjalgrim Hiltrud Muhle Ingo Helbig Wolfram S Kunz Yvonne G Weber Sarah Weckhuysen Peter De Jonghe Sanjay M Sisodiya Rima Nabbout Silvana Franceschetti Antonietta Coppola Maria S Vari Dorothée Kasteleijn-Nolst Trenité Betul Baykan Ugur Ozbek Nerses Bebek Karl M Klein Felix Rosenow Dang K Nguyen François Dubeau Lionel Carmant Anne Lortie Richard Desbiens Jean-François Clément Cécile Cieuta-Walti Graeme J Sills Pauls Auce Ben Francis Michael R Johnson Anthony G Marson Bianca Berghuis Josemir W Sander Andreja Avbersek Mark McCormack Gianpiero L Cavalleri Norman Delanty Chantal Depondt Martin Krenn Fritz Zimprich Sarah Peter Marina Nikanorova Robert Kraaij Jeroen van Rooij Rudi Balling M Arfan Ikram André G Uitterlinden Giuliano Avanzini Stephanie Schorge Steven Petrou Massimo Mantegazza Thomas Sander Eric LeGuern Jose M Serratosa Bobby P C Koeleman Aarno Palotie Anna-Elina Lehesjoki Michael Nothnagel Peter Nürnberg Snezana Maljevic Federico Zara Patrick Cossette Roland Krause Holger Lerche

Lancet Neurol 2018 08 17;17(8):699-708. Epub 2018 Jul 17.

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http://dx.doi.org/10.1016/S1474-4422(18)30215-1DOI Listing
August 2018

Leukoencephalopathy, cerebral calcifications and cysts: a family study.

J Neurol 2014 Oct 18;261(10):1911-6. Epub 2014 Jul 18.

Department of Radiology and Oncotherapy, Semmelweis University, Budapest, Hungary.

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http://dx.doi.org/10.1007/s00415-014-7393-9DOI Listing
October 2014

Dravet syndrome: new potential genetic modifiers, imaging abnormalities, and ictal findings.

Epilepsia 2013 Sep 28;54(9):1577-85. Epub 2013 Jun 28.

Department of Pediatric Neurology, Helsinki University Central Hospital, Helsinki, Finland.

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http://dx.doi.org/10.1111/epi.12256DOI Listing
September 2013

[Encouraging experiences of interactive lectures].

Duodecim 2009 ;125(20):2199-205

Helsingin yliopisto, Haartman-instituutti, bakteriologian ja immunologian osasto, PL 21, 00014 Helsingin yliopisto.

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January 2010

High-resolution analysis of genomic alterations and human papillomavirus integration in anal intraepithelial neoplasia.

J Acquir Immune Defic Syndr 2005 Oct;40(2):182-9

Comprehensive Cancer Center, Department of Laboratory Medicine, University of California, San Francisco, San Francisco, CA 94143-0126, USA.

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http://dx.doi.org/10.1097/01.qai.0000179460.61987.33DOI Listing
October 2005

Physical map of an asthma susceptibility locus in 7p15-p14 and an association study of TCRG.

Eur J Hum Genet 2002 Oct;10(10):658-65

Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, Finland.

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http://dx.doi.org/10.1038/sj.ejhg.5200861DOI Listing
October 2002