Elena Infante

Elena Infante

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Elena Infante

Elena Infante

Publications by authors named "Elena Infante"

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Aplastic anemia and cytotoxic T lymphocyte antigen-4 haploinsufficiency treated with bone marrow transplantation.

J Allergy Clin Immunol Pract 2017 Sep - Oct;5(5):1445-1447.e2. Epub 2017 May 9.

Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, Pa; Division of Blood and Marrow Transplantation and Cellular Therapies, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, Pa; Division of Hematology/Oncology, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, Pa. Electronic address:

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http://dx.doi.org/10.1016/j.jaip.2017.03.007DOI Listing
June 2019

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

Rare form of autosomal dominant familial Cornelia de Lange syndrome due to a novel duplication in SMC3.

Clin Case Rep 2017 08 28;5(8):1277-1283. Epub 2017 Jun 28.

Department of Pediatrics Division of Medical Genetics Children's Hospital of Pittsburgh of UPMC Pittsburgh Pennsylvania.

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http://doi.wiley.com/10.1002/ccr3.1010
Publisher Site
http://dx.doi.org/10.1002/ccr3.1010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5538066PMC
August 2017

Chromosome 12q13.13q13.13 microduplication and microdeletion: a case report and literature review.

Mol Cytogenet 2017 19;10:24. Epub 2017 Jun 19.

Center for Clinical Genetics and Genomics, Pittsburgh Cytogenetics Laboratory, Magee-Womens Hospital of UPMC, Pittsburgh, PA 15213 USA.

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http://dx.doi.org/10.1186/s13039-017-0326-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5477234PMC
June 2017

Confusion and strength.

Authors:
Elena Infante

J Genet Couns 2012 Apr 1;21(2):199-200. Epub 2011 Dec 1.

Division of Gastroenterology, Hepatology, and Nutrition, University of Pittsburgh, Pittsburgh, PA, USA.

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http://dx.doi.org/10.1007/s10897-011-9434-1DOI Listing
April 2012