Pavel N Pichurin

Pavel N Pichurin

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Pavel N Pichurin

Pavel N Pichurin

Publications by authors named "Pavel N Pichurin"

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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

Adrenal Cortical Carcinoma Associated With Lynch Syndrome: A Case Report and Review of Literature.

J Endocr Soc 2019 Apr 5;3(4):784-790. Epub 2019 Mar 5.

Division of Endocrinology, Department of Medicine, Mayo Clinic, Rochester, Minnesota.

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http://dx.doi.org/10.1210/js.2019-00050DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6446885PMC
April 2019

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 Mar 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:

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

Cushing syndrome: uncovering Carney complex due to novel PRKAR1A mutation.

Endocrinol Diabetes Metab Case Rep 2019 Mar 21;2019. Epub 2019 Mar 21.

Departments of Division of Endocrinology, Diabetes, Metabolism, and Nutrition, Mayo Clinic, Rochester, Minnesota, USA.

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http://dx.doi.org/10.1530/EDM-18-0150DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6432981PMC
March 2019

Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome.

Am J Case Rep 2018 Mar 25;19:347-353. Epub 2018 Mar 25.

Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5881453PMC
http://dx.doi.org/10.12659/ajcr.907395DOI Listing
March 2018

Malignant Peripheral Nerve Sheath Tumor in a Patient With BAP1 Tumor Predisposition Syndrome.

World Neurosurg 2018 Jan 20;109:362-364. Epub 2017 Oct 20.

Department of Neurosurgery, Mayo Clinic, Rochester, Minnesota, USA.

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http://dx.doi.org/10.1016/j.wneu.2017.10.064DOI Listing
January 2018

Evidence for Brainstem Motor Nondecussation as a Neurologic Substrate for Periodic Alternating Gaze Deviation.

Ophthalmology 2017 07 28;124(7):1085-1087. Epub 2017 Apr 28.

Department of Radiology, Mayo Clinic, Rochester, Minnesota.

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http://dx.doi.org/10.1016/j.ophtha.2017.03.035DOI Listing
July 2017

Genetic testing helps to confirm the diagnosis and initiate appropriate treatment, a case of Liddle syndrome.

J Am Soc Hypertens 2017 03 25;11(3):134-135. Epub 2017 Jan 25.

Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jash.2017.01.003DOI Listing
March 2017

Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant.

Am J Hum Genet 2016 05 14;98(5):830-842. Epub 2016 Apr 14.

Department of Genetics and Computational Biology, QIMR Berghofer, Herston, QLD 4029, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.03.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4863475PMC
May 2016

Shared and unique susceptibility genes in a mouse model of Graves' disease determined in BXH and CXB recombinant inbred mice.

Endocrinology 2008 Apr 27;149(4):2001-9. Epub 2007 Dec 27.

Autoimmune Disease Unit, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Los Angeles, CA 90048, USA.

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http://dx.doi.org/10.1210/en.2007-1517DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2276708PMC
April 2008

The link between Graves' disease and Hashimoto's thyroiditis: a role for regulatory T cells.

Endocrinology 2007 Dec 6;148(12):5724-33. Epub 2007 Sep 6.

Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Los Angeles, CA 90048, USA.

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http://dx.doi.org/10.1210/en.2007-1024DOI Listing
December 2007

Probing the genetic basis for thyrotropin receptor antibodies and hyperthyroidism in immunized CXB recombinant inbred mice.

Endocrinology 2006 Jun 16;147(6):2789-800. Epub 2006 Mar 16.

Autoimmune Disease Unit, Cedars-Sinai Medical Center, Los Angeles, California 90048, USA.

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http://dx.doi.org/10.1210/en.2006-0160DOI Listing
June 2006

Targeted expression of the human thyrotropin receptor A-subunit to the mouse thyroid: insight into overcoming the lack of response to A-subunit adenovirus immunization.

J Immunol 2006 Jan;176(1):668-76

Autoimmune Disease Unit, Cedars-Sinai Research Institute, and University of California School of Medicine, Los Angeles, CA 90095, USA.

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http://dx.doi.org/10.4049/jimmunol.176.1.668DOI Listing
January 2006

Relationship between thyroid peroxidase T cell epitope restriction and antibody recognition of the autoantibody immunodominant region in human leukocyte antigen DR3 transgenic mice.

Endocrinology 2005 Nov 4;146(11):4961-7. Epub 2005 Aug 4.

Autoimmune Disease Unit, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Suite B-131, Los Angeles, California 90048, USA.

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http://dx.doi.org/10.1210/en.2005-0760DOI Listing
November 2005

Dissociation between iodide-induced thyroiditis and antibody-mediated hyperthyroidism in NOD.H-2h4 mice.

Endocrinology 2005 Jan 30;146(1):294-300. Epub 2004 Sep 30.

Autoimmune Disease Unit, Cedars-Sinai Research Institute and University of California Los Angeles School of Medicine, Los Angeles, California 90048, USA.

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http://dx.doi.org/10.1210/en.2004-1126DOI Listing
January 2005

"Hijacking" the thyrotropin receptor: A chimeric receptor-lysosome associated membrane protein enhances deoxyribonucleic acid vaccination and induces Graves' hyperthyroidism.

Endocrinology 2004 Dec 26;145(12):5504-14. Epub 2004 Aug 26.

Autoimmune Disease Unit, Cedars-Sinai Research Institute and University of California, Los Angeles School of Medicine, Los Angeles, California 90048, USA.

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http://dx.doi.org/10.1210/en.2004-0530DOI Listing
December 2004

Naked deoxyribonucleic acid vaccination induces recognition of diverse thyroid peroxidase T cell epitopes.

Endocrinology 2004 Aug 3;145(8):3671-8. Epub 2004 May 3.

Cedars-Sinai Medical Center, University of California School of Medicine, Los Angeles, Californoia 90048, USA.

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http://dx.doi.org/10.1210/en.2004-0303DOI Listing
August 2004

Thyrotropin receptor knockout mice: studies on immunological tolerance to a major thyroid autoantigen.

Endocrinology 2004 Mar 20;145(3):1294-301. Epub 2003 Nov 20.

Autoimmune Disease Unit, Cedars-Sinai Research Institute and UCLA School of Medicine, 90048, USA.

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http://dx.doi.org/10.1210/en.2003-1384DOI Listing
March 2004