Gabriela Soares

Gabriela Soares

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Gabriela Soares

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Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

Authors:
Pleuntje J van der Sluijs Sandra Jansen Samantha A Vergano Miho Adachi-Fukuda Yasemin Alanay Adila AlKindy Anwar Baban Allan Bayat Stefanie Beck-Wödl Katherine Berry Emilia K Bijlsma Levinus A Bok Alwin F J Brouwer Ineke van der Burgt Philippe M Campeau Natalie Canham Krystyna Chrzanowska Yoyo W Y Chu Brain H Y Chung Karin Dahan Marjan De Rademaeker Anne Destree Tracy Dudding-Byth Rachel Earl Nursel Elcioglu Ellen R Elias Christina Fagerberg Alice Gardham Blanca Gener Erica H Gerkes Ute Grasshoff Arie van Haeringen Karin R Heitink Johanna C Herkert Nicolette S den Hollander Denise Horn David Hunt Sarina G Kant Mitsuhiro Kato Hülya Kayserili Rogier Kersseboom Esra Kilic Malgorzata Krajewska-Walasek Kylin Lammers Lone W Laulund Damien Lederer Melissa Lees Vanesa López-González Saskia Maas Grazia M S Mancini Carlo Marcelis Francisco Martinez Isabelle Maystadt Marianne McGuire Shane McKee Sarju Mehta Kay Metcalfe Jeff Milunsky Seiji Mizuno John B Moeschler Christian Netzer Charlotte W Ockeloen Barbara Oehl-Jaschkowitz Nobuhiko Okamoto Sharon N M Olminkhof Carmen Orellana Laurent Pasquier Caroline Pottinger Vera Riehmer Stephen P Robertson Maian Roifman Caroline Rooryck Fabienne G Ropers Monica Rosello Claudia A L Ruivenkamp Mahmut S Sagiroglu Suzanne C E H Sallevelt Amparo Sanchis Calvo Pelin O Simsek-Kiper Gabriela Soares Lucia Solaeche Fatma Mujgan Sonmez Miranda Splitt Duco Steenbeek Alexander P A Stegmann Constance T R M Stumpel Saori Tanabe Eyyup Uctepe G Eda Utine Hermine E Veenstra-Knol Sunita Venkateswaran Catheline Vilain Catherine Vincent-Delorme Anneke T Vulto-van Silfhout Patricia Wheeler Golder N Wilson Louise C Wilson Bernd Wollnik Tomoki Kosho Dagmar Wieczorek Evan Eichler Rolph Pfundt Bert B A de Vries Jill Clayton-Smith Gijs W E Santen

Genet Med 2019 Sep;21(9):2160-2161

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1038/s41436-018-0368-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752317PMC
September 2019

Impact of a playful booklet about diabetes and obesity on high school students in Campinas, Brazil.

Adv Physiol Educ 2019 Sep;43(3):266-269

Department of Structural and Functional Biology, Obesity and Comorbidities Research Center, Institute of Biology, University of Campinas , Campinas, São Paulo , Brazil.

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http://dx.doi.org/10.1152/advan.00160.2018DOI Listing
September 2019

Subtelomeric Rearrangements: Presentation of 21 Probands with Emphasis on Familial Cases.

Acta Med Port 2019 Aug 1;32(7-8):529-535. Epub 2019 Aug 1.

Unidade de Genética Médica. Centro de Genética Médica Jacinto Magalhães. Centro Hospitalar Universitário do Porto. Porto. Unidade de Citogenética. Centro de Genética Médica Jacinto Magalhães. Centro Hospitalar Universitário do Porto. Porto. Portugal.

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http://dx.doi.org/10.20344/amp.11466DOI Listing
August 2019

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

Authors:
Pleuntje J van der Sluijs Sandra Jansen Samantha A Vergano Miho Adachi-Fukuda Yasemin Alanay Adila AlKindy Anwar Baban Allan Bayat Stefanie Beck-Wödl Katherine Berry Emilia K Bijlsma Levinus A Bok Alwin F J Brouwer Ineke van der Burgt Philippe M Campeau Natalie Canham Krystyna Chrzanowska Yoyo W Y Chu Brain H Y Chung Karin Dahan Marjan De Rademaeker Anne Destree Tracy Dudding-Byth Rachel Earl Nursel Elcioglu Ellen R Elias Christina Fagerberg Alice Gardham Blanca Gener Erica H Gerkes Ute Grasshoff Arie van Haeringen Karin R Heitink Johanna C Herkert Nicolette S den Hollander Denise Horn David Hunt Sarina G Kant Mitsuhiro Kato Hülya Kayserili Rogier Kersseboom Esra Kilic Malgorzata Krajewska-Walasek Kylin Lammers Lone W Laulund Damien Lederer Melissa Lees Vanesa López-González Saskia Maas Grazia M S Mancini Carlo Marcelis Francisco Martinez Isabelle Maystadt Marianne McGuire Shane McKee Sarju Mehta Kay Metcalfe Jeff Milunsky Seiji Mizuno John B Moeschler Christian Netzer Charlotte W Ockeloen Barbara Oehl-Jaschkowitz Nobuhiko Okamoto Sharon N M Olminkhof Carmen Orellana Laurent Pasquier Caroline Pottinger Vera Riehmer Stephen P Robertson Maian Roifman Caroline Rooryck Fabienne G Ropers Monica Rosello Claudia A L Ruivenkamp Mahmut S Sagiroglu Suzanne C E H Sallevelt Amparo Sanchis Calvo Pelin O Simsek-Kiper Gabriela Soares Lucia Solaeche Fatma Mujgan Sonmez Miranda Splitt Duco Steenbeek Alexander P A Stegmann Constance T R M Stumpel Saori Tanabe Eyyup Uctepe G Eda Utine Hermine E Veenstra-Knol Sunita Venkateswaran Catheline Vilain Catherine Vincent-Delorme Anneke T Vulto-van Silfhout Patricia Wheeler Golder N Wilson Louise C Wilson Bernd Wollnik Tomoki Kosho Dagmar Wieczorek Evan Eichler Rolph Pfundt Bert B A de Vries Jill Clayton-Smith Gijs W E Santen

Genet Med 2019 06 8;21(6):1295-1307. Epub 2018 Nov 8.

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://www.nature.com/articles/s41436-018-0330-z
Publisher Site
http://dx.doi.org/10.1038/s41436-018-0330-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752273PMC
June 2019

Hyperinsulinemia is associated with increasing insulin secretion but not with decreasing insulin clearance in an age-related metabolic dysfunction mice model.

J Cell Physiol 2019 Jun 28;234(6):9802-9809. Epub 2018 Oct 28.

Obesity and Comorbidities Research Center, Institute of Biology, University of Campinas (UNICAMP), Campinas, Sao Paulo, Brazil.

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http://doi.wiley.com/10.1002/jcp.27667
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http://dx.doi.org/10.1002/jcp.27667DOI Listing
June 2019

ARHGAP21 deficiency impairs hepatic lipid metabolism and improves insulin signaling in lean and obese mice.

Can J Physiol Pharmacol 2019 Jun 27:1-10. Epub 2019 Jun 27.

Department of Structural and Functional Biology, Institute of Biology, University of Campinas, UNICAMP, Campinas, SP, Brazil.

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http://dx.doi.org/10.1139/cjpp-2018-0691DOI Listing
June 2019

ARHGAP21 as a master regulator of multiple cellular processes.

J Cell Physiol 2018 11 1;233(11):8477-8481. Epub 2018 Jun 1.

Department of Structural and Functional Biology, Obesity and Comorbidities Research Center (OCRC), Institute of Biology, University of Campinas (UNICAMP), Campinas, São Paulo, Brazil.

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http://dx.doi.org/10.1002/jcp.26829DOI Listing
November 2018

Whole body ARHGAP21 reduction improves glucose homeostasis in high-fat diet obese mice.

J Cell Physiol 2018 09 25;233(9):7112-7119. Epub 2018 Mar 25.

Department of Structural and Functional Biology, Institute of Biology, University of Campinas, UNICAMP, Campinas, São Paulo, Brazil.

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http://dx.doi.org/10.1002/jcp.26527DOI Listing
September 2018

Nighttime light exposure enhances Rev-erbα-targeting microRNAs and contributes to hepatic steatosis.

Metabolism 2018 08 8;85:250-258. Epub 2018 May 8.

Obesity and Comorbidities Research Center, Institute of Biology, University of Campinas/UNICAMP, Campinas, SP, Brazil; Department of Structural and Functional Biology, Institute of Biology, University of Campinas/UNICAMP, Campinas, SP, Brazil.

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http://dx.doi.org/10.1016/j.metabol.2018.05.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6145802PMC
August 2018

Classical fragile-X phenotype in a female infant disclosed by comprehensive genomic studies.

BMC Med Genet 2018 05 10;19(1):74. Epub 2018 May 10.

Unit for Multidisciplinary Research in Biomedicine, Abel Salazar Institute of Biomedical Sciences, University of Porto - UMIB-ICBAS-UP, Porto, Portugal.

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http://dx.doi.org/10.1186/s12881-018-0589-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5946481PMC
May 2018

Two Novel Pathogenic Variants and Genotype-Phenotype Correlation Reanalysis in X-Linked Opitz G/BBB Syndrome.

Mol Syndromol 2017 Dec 29;9(1):45-51. Epub 2017 Aug 29.

Unidade de Genética Molecular, Centro de Genética Médica Doutor Jacinto de Magalhães (CGMJM), Centro Hospitalar do Porto, EPE, Porto, Portugal.

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http://dx.doi.org/10.1159/000479177DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5803688PMC
December 2017

Liver steatosis in hypothalamic obese rats improves after duodeno-jejunal bypass by reduction in de novo lipogenesis pathway.

Life Sci 2017 Nov 1;188:68-75. Epub 2017 Sep 1.

Laboratório de Fisiologia Endócrina e Metabolismo (LAFEM), Centro de Ciências Biológicas e da Saúde, Universidade Estadual do Oeste do Paraná (UNIOESTE), Cascavel, PR, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.lfs.2017.08.035DOI Listing
November 2017

Whole Gene Deletion of Supporting Haploinsufficiency of This Gene as a Mechanism of Neurodevelopmental Disease.

Front Genet 2017 9;8:143. Epub 2017 Oct 9.

Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, Braga, Portugal.

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http://dx.doi.org/10.3389/fgene.2017.00143DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5640723PMC
October 2017

Validation of a Next-Generation Sequencing Pipeline for the Molecular Diagnosis of Multiple Inherited Cancer Predisposing Syndromes.

J Mol Diagn 2017 07 18;19(4):502-513. Epub 2017 May 18.

Cancer Genetics Group, Portuguese Oncology Institute of Porto Research Center (CI-IPOP), Portuguese Oncology Institute of Porto, Porto, Portugal; Department of Genetics, Portuguese Oncology Institute of Porto, Porto, Portugal; Biomedical Sciences Institute, University of Porto, Porto, Portugal. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S15251578173025
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http://dx.doi.org/10.1016/j.jmoldx.2017.05.001DOI Listing
July 2017

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

Improvement in the expression of hepatic genes involved in fatty acid metabolism in obese rats supplemented with taurine.

Life Sci 2015 Aug 17;135:15-21. Epub 2015 Jun 17.

Laboratório de Fisiologia Endócrina e Metabolismo (LAFEM), Centro de Ciências Biológicas e da Saúde, Universidade Estadual do Oeste do Paraná (UNIOESTE), Cascavel, PR, Brazil.

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https://linkinghub.elsevier.com/retrieve/pii/S00243205150031
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http://dx.doi.org/10.1016/j.lfs.2015.05.019DOI Listing
August 2015

Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach.

Mol Genet Genomic Med 2015 May 25;3(3):203-14. Epub 2015 Feb 25.

Unidade de Genética Molecular, Centro de Genética Médica Doutor Jacinto Magalhães, Centro Hospitalar do Porto, EPE Porto, Portugal ; Unit for Multidisciplinary Research in Biomedicine, UMIB, ICBAS-UP Porto, Portugal.

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http://dx.doi.org/10.1002/mgg3.133DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4444162PMC
May 2015

Cutaneous metastasis of renal carcinoma.

J Am Acad Dermatol 2015 Jan;72(1 Suppl):S45-6

Skin Cancer Unit, Arcispedale Santa Maria Nuova IRCCS, Reggio Emilia, Italy.

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http://dx.doi.org/10.1016/j.jaad.2014.06.008DOI Listing
January 2015

A 26-Year Experience in Chorionic Villus Sampling Prenatal Genetic Diagnosis.

J Clin Med 2014 Jul 24;3(3):838-48. Epub 2014 Jul 24.

Center of Medical Genetics Doutor Jacinto Magalhães, Oporto Hospital Center, C.H.P., EPE, Praça Pedro Nunes, 88, 4099-028 Porto, Portugal.

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http://dx.doi.org/10.3390/jcm3030838DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4449647PMC
July 2014

Co-segregation of trichorhinophalangeal syndrome with a t(8;13)(q23.3;q21.31) familial translocation that appears to increase TRPS1 gene expression.

Hum Genet 2013 Nov 9;132(11):1287-99. Epub 2013 Jul 9.

Department of Human Genetics, National Health Institute Dr Ricardo Jorge, Av. Padre Cruz, 1649-016, Lisbon, Portugal,

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http://dx.doi.org/10.1007/s00439-013-1333-0DOI Listing
November 2013

Preparation and photocatalytical performance of TiO2:SiO2 nanocomposites produced by the polymeric precursors method.

J Nanosci Nanotechnol 2013 Jul;13(7):5126-33

Department of Materials Engineering, Universidade Federal de São Carlos, Rodovia Washington Luis KM 235 SP-310, São Carlos, São Paulo, CEP 13565-905, Brazil.

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http://dx.doi.org/10.1166/jnn.2013.7603DOI Listing
July 2013

Clinical efficacy of dexmedetomidine alone is less than propofol for conscious sedation during ERCP.

Gastrointest Endosc 2008 Apr 4;67(4):651-9. Epub 2008 Mar 4.

Anesthesia and Perioperative Medicine Service, Gastroenterology Division, Hospital de Clínicas de Porto Alegre, Institute of Basic Health Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.

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http://dx.doi.org/10.1016/j.gie.2007.09.041DOI Listing
April 2008

Congenital heart defects and chromosomal anomalies including 22q11 microdeletion (CATCH 22).

Rev Port Cardiol 2005 Mar;24(3):349-71

Instituto de Genética Médica Jacinto Magalhães, Porto, Portugal.

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March 2005