Publications by authors named "Joaquim Sa"

18Publications

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 2020 01 29;87(2):100-112. 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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6925349PMC
January 2020

Renal transplantation in Birt-Hogg-Dubé syndrome: should we?

BMC Nephrol 2018 10 16;19(1):267. Epub 2018 Oct 16.

Hospital Amato Lusitano, Rua Professora Maria Amalia Fevereiro Lote A 105, 4°direito, 6000-472, Castelo Branco, Portugal.

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http://dx.doi.org/10.1186/s12882-018-1064-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6192299PMC
October 2018

Novel WDR45 mutation causing beta-propeller protein associated neurodegeneration (BPAN) in two monozygotic twins.

J Neurol 2017 May 30;264(5):1020-1022. Epub 2017 Mar 30.

Child Development Center, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.

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http://dx.doi.org/10.1007/s00415-017-8475-2DOI Listing
May 2017

A Challenging Form of Non-autoimmune Insulin-Dependent Diabetes in a Wolfram Syndrome Patient with a Novel Sequence Variant.

J Diabetes Metab 2015 Jun;6(7):1-5

Department of Cell and Molecular Biology, The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA.

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http://dx.doi.org/10.4172/2155-6156.1000561DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4725320PMC
June 2015

Identification of novel genetic causes of Rett syndrome-like phenotypes.

J Med Genet 2016 Mar 6;53(3):190-9. Epub 2016 Jan 6.

Life and Health Sciences Research Institute (ICVS), School of Health Sciences, University of Minho, Braga, Portugal ICVS/3B's-PT Government Associate Laboratory, Braga/Guimarães, Portugal.

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http://dx.doi.org/10.1136/jmedgenet-2015-103568DOI Listing
March 2016

Copy number variants prioritization after array-CGH analysis - a cohort of 1000 patients.

Mol Cytogenet 2015 30;8:103. Epub 2015 Dec 30.

Laboratório de Citogenética e Genómica - Faculdade de Medicina, Universidade de Coimbra, Pólo Ciências da Saúde, Sub-Unidade 1 - Piso 2, Azinhaga de Santa Comba, 3000-354 Coimbra, Portugal ; CIMAGO - Centro de Investigação em Meio Ambiente, Genética e Oncobiologia, Faculdade de Medicina, Universidade de Coimbra, Coimbra, Portugal ; Faculdade de Medicina, Universidade de Coimbra, Coimbra, Portugal ; CNC, IBILI - Faculdade de Medicina, Universidade de Coimbra, Coimbra, Portugal.

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http://dx.doi.org/10.1186/s13039-015-0202-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4696247PMC
December 2015

Oculo-auriculo-vertebral spectrum: clinical and molecular analysis of 51 patients.

Eur J Med Genet 2015 Sep 20;58(9):455-65. Epub 2015 Jul 20.

Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK; Central Manchester University Hospitals NHS Foundation Trust as part of Manchester Academic Health Science Centre (MAHSC), Manchester, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2015.07.003DOI Listing
September 2015

Mosaicism for FMR1 gene full mutation and intermediate allele in a female foetus: a postzygotic retraction event.

Gene 2013 Sep 20;527(1):421-5. Epub 2013 Jun 20.

Laboratório de Citogenética e Genómica, Faculdade de Medicina da Universidade de Coimbra, Coimbra, Portugal.

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http://dx.doi.org/10.1016/j.gene.2013.05.079DOI Listing
September 2013

Month of birth and risk of multiple sclerosis in a Portuguese population.

Clin Neurol Neurosurg 2013 Sep 1;115(9):1762-5. Epub 2013 May 1.

Department of Neurology, Centro Hospitalar São João, 4200-319 Porto, Portugal.

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http://dx.doi.org/10.1016/j.clineuro.2013.04.007DOI Listing
September 2013

Accuracy of prenatal diagnosis in elective termination of pregnancy: 385 cases from 2000 to 2007.

ISRN Obstet Gynecol 2011 8;2011:458120. Epub 2010 Nov 8.

Serviço de Genética Médica, Centro Hospitalar de Coimbra, Avenida Bissaya Barreto, 3000-076 Coimbra, Portugal.

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http://dx.doi.org/10.5402/2011/458120DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3102519PMC
July 2011

Corrected ASD: case closed?

BMJ Case Rep 2011 Aug 4;2011. Epub 2011 Aug 4.

Cardiology Department, Coimbra's Hospital Center, S. Martinho do Bispo, Coimbra, Portugal.

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http://dx.doi.org/10.1136/bcr.01.2011.3714DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4545120PMC
August 2011