Xenia Latypova

Xenia Latypova

UNVERIFIED PROFILE

Are you Xenia Latypova?   Register this Author

Register author
Xenia Latypova

Xenia Latypova

Publications by authors named "Xenia Latypova"

Are you Xenia Latypova?   Register this Author

21Publications

1202Reads

9Profile Views

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Authors:
Benjamin Cogné Sophie Ehresmann Eliane Beauregard-Lacroix Justine Rousseau Thomas Besnard Thomas Garcia Slavé Petrovski Shiri Avni Kirsty McWalter Patrick R Blackburn Stephan J Sanders Kévin Uguen Jacqueline Harris Julie S Cohen Moira Blyth Anna Lehman Jonathan Berg Mindy H Li Usha Kini Shelagh Joss Charlotte von der Lippe Christopher T Gordon Jennifer B Humberson Laurie Robak Daryl A Scott Vernon R Sutton Cara M Skraban Jennifer J Johnston Annapurna Poduri Magnus Nordenskjöld Vandana Shashi Erica H Gerkes Ernie M H F Bongers Christian Gilissen Yuri A Zarate Malin Kvarnung Kevin P Lally Peggy A Kulch Brina Daniels Andres Hernandez-Garcia Nicholas Stong Julie McGaughran Kyle Retterer Kristian Tveten Jennifer Sullivan Madeleine R Geisheker Asbjorg Stray-Pedersen Jennifer M Tarpinian Eric W Klee Julie C Sapp Jacob Zyskind Øystein L Holla Emma Bedoukian Francesca Filippini Anne Guimier Arnaud Picard Øyvind L Busk Jaya Punetha Rolph Pfundt Anna Lindstrand Ann Nordgren Fayth Kalb Megha Desai Ashley Harmon Ebanks Shalini N Jhangiani Tammie Dewan Zeynep H Coban Akdemir Aida Telegrafi Elaine H Zackai Amber Begtrup Xiaofei Song Annick Toutain Ingrid M Wentzensen Sylvie Odent Dominique Bonneau Xénia Latypova Wallid Deb Sylvia Redon Frédéric Bilan Marine Legendre Caitlin Troyer Kerri Whitlock Oana Caluseriu Marine I Murphree Pavel N Pichurin Katherine Agre Ralitza Gavrilova Tuula Rinne Meredith Park Catherine Shain Erin L Heinzen Rui Xiao Jeanne Amiel Stanislas Lyonnet Bertrand Isidor Leslie G Biesecker Dan Lowenstein Jennifer E Posey Anne-Sophie Denommé-Pichon Claude Férec Xiang-Jiao Yang Jill A Rosenfeld Brigitte Gilbert-Dussardier Séverine Audebert-Bellanger Richard Redon Holly A F Stessman Christoffer Nellaker Yaping Yang James R Lupski David B Goldstein Evan E Eichler Francois Bolduc Stéphane Bézieau Sébastien Küry Philippe M Campeau

Am J Hum Genet 2019 03 28;104(3):530-541. Epub 2019 Feb 28.

Centre Hospitalier Universitaire Sainte-Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H3T1J4, Canada. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2019.01.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407527PMC
March 2019

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.

Am J Hum Genet 2018 05 12;102(5):744-759. Epub 2018 Apr 12.

Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; l'institut du thorax, INSERM, CNRS, UNIV Nantes, 44007 Nantes, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2018.02.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986661PMC
May 2018

Familial deep endometriosis: A rare monogenic disease?

Eur J Obstet Gynecol Reprod Biol 2018 Feb 5;221:190-193. Epub 2017 Dec 5.

Service de Gynécologie-obstétrique et médecine de la Reproduction, CHU, Nantes, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejogrb.2017.11.025DOI Listing
February 2018

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

Authors:
Sébastien Küry Geeske M van Woerden Thomas Besnard Martina Proietti Onori Xénia Latypova Meghan C Towne Megan T Cho Trine E Prescott Melissa A Ploeg Stephan Sanders Holly A F Stessman Aurora Pujol Ben Distel Laurie A Robak Jonathan A Bernstein Anne-Sophie Denommé-Pichon Gaëtan Lesca Elizabeth A Sellars Jonathan Berg Wilfrid Carré Øyvind Løvold Busk Bregje W M van Bon Jeff L Waugh Matthew Deardorff George E Hoganson Katherine B Bosanko Diana S Johnson Tabib Dabir Øystein Lunde Holla Ajoy Sarkar Kristian Tveten Julitta de Bellescize Geir J Braathen Paulien A Terhal Dorothy K Grange Arie van Haeringen Christina Lam Ghayda Mirzaa Jennifer Burton Elizabeth J Bhoj Jessica Douglas Avni B Santani Addie I Nesbitt Katherine L Helbig Marisa V Andrews Amber Begtrup Sha Tang Koen L I van Gassen Jane Juusola Kimberly Foss Gregory M Enns Ute Moog Katrin Hinderhofer Nagarajan Paramasivam Sharyn Lincoln Brandon H Kusako Pierre Lindenbaum Eric Charpentier Catherine B Nowak Elouan Cherot Thomas Simonet Claudia A L Ruivenkamp Sihoun Hahn Catherine A Brownstein Fan Xia Sébastien Schmitt Wallid Deb Dominique Bonneau Mathilde Nizon Delphine Quinquis Jamel Chelly Gabrielle Rudolf Damien Sanlaville Philippe Parent Brigitte Gilbert-Dussardier Annick Toutain Vernon R Sutton Jenny Thies Lisenka E L M Peart-Vissers Pierre Boisseau Marie Vincent Andreas M Grabrucker Christèle Dubourg Wen-Hann Tan Nienke E Verbeek Martin Granzow Gijs W E Santen Jay Shendure Bertrand Isidor Laurent Pasquier Richard Redon Yaping Yang Matthew W State Tjitske Kleefstra Benjamin Cogné Slavé Petrovski Kyle Retterer Evan E Eichler Jill A Rosenfeld Pankaj B Agrawal Stéphane Bézieau Sylvie Odent Ype Elgersma Sandra Mercier

Am J Hum Genet 2017 Nov;101(5):768-788

CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2017.10.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673671PMC
November 2017

Novel KCNB1 mutation associated with non-syndromic intellectual disability.

J Hum Genet 2017 Apr 8;62(5):569-573. Epub 2016 Dec 8.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/jhg.2016.154DOI Listing
April 2017

Mandibular dysostosis without microphthalmia caused by OTX2 deletion.

Am J Med Genet A 2016 09 5;170(9):2466-70. Epub 2016 Jul 5.

Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37837DOI Listing
September 2016

Toward Personalized Medicine: Using Cardiomyocytes Differentiated From Urine-Derived Pluripotent Stem Cells to Recapitulate Electrophysiological Characteristics of Type 2 Long QT Syndrome.

J Am Heart Assoc 2015 Sep 1;4(9):e002159. Epub 2015 Sep 1.

Inserm, UMR 1087, l'institut du thorax, Nantes, France (M.J., K.S.T., Z.E.S.L., X.L., B.C., A.C., A.R., F.C., G.L., I.B., P.L., N.G.) CNRS, UMR 6291, Nantes, France (M.J., K.S.T., Z.E.S.L., X.L., B.C., A.C., A.R., F.C., G.L., I.B., P.L., N.G.) Université de Nantes, France (M.J., K.S.T., Z.E.S.L., X.L., B.C., A.C., A.R., F.C., G.L., I.B., P.L., N.G.) CHU Nantes, l'institut du thorax, Nantes, France (M.J., K.S.T., Z.E.S.L., X.L., B.C., A.C., A.R., F.C., G.L., I.B., P.L., N.G.).

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1161/JAHA.115.002159DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4599503PMC
September 2015

2015: which new directions for Alzheimer's disease?

Front Cell Neurosci 2014 9;8:417. Epub 2014 Dec 9.

Université de Nantes Nantes, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fncel.2014.00417DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4260501PMC
December 2014

Tau protein kinases: involvement in Alzheimer's disease.

Ageing Res Rev 2013 Jan 26;12(1):289-309. Epub 2012 Jun 26.

Groupe de Neurobiologie Cellulaire - Homéostasie cellulaire et pathologies, Faculté de Médecine, Limoges, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.arr.2012.06.003DOI Listing
January 2013

Tau protein phosphatases in Alzheimer's disease: the leading role of PP2A.

Ageing Res Rev 2013 Jan 6;12(1):39-49. Epub 2012 Jul 6.

Groupe de Neurobiologie Cellulaire, Homéostasie cellulaire et pathologies, Faculté de Médecine, Limoges, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.arr.2012.06.008DOI Listing
January 2013

Post-translational modifications of tau protein: implications for Alzheimer's disease.

Neurochem Int 2011 Mar 6;58(4):458-71. Epub 2011 Jan 6.

Groupe de Neurobiologie Cellulaire-EA3842 Homéostasie cellulaire et pathologies, Faculté de Médecine, Limoges, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.neuint.2010.12.023DOI Listing
March 2011