Karin Alvarez

Karin Alvarez

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Karin Alvarez

Karin Alvarez

Publications by authors named "Karin Alvarez"

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A snapshot of current genetic testing practice in Lynch syndrome: The results of a representative survey of 33 Latin American existing centres/registries.

Authors:
Adriana Della Valle Benedito Mauro Rossi Edenir Inêz Palmero Marina Antelo Carlos Alberto Vaccaro Francisco López-Kostner Karin Alvarez Marcia Cruz-Correa Luisina Inés Bruno Nora Manoukian Forones Jorge Andres Rugeles Mindiola José Buleje Florencia Spirandelli Mabel Bohorquez Alicia Maria Cock-Rada Yasser Sullcahuaman Ivana Nascimento Kiyoko Abe-Sandes Leonardo S Lino-Silva Florencia Petracchi Alejandra Mampel Yeni Rodriguez Norma Teresa Rossi Claudio Benavides Yañez Cladelis Rubio Tirzah Braz Petta-Lajus Elizabeth Lemos Silveira-Lucas Geiner Jiménez Carlos Mario Muñeton Peña Carlos Reyes-Silva María de la Luz Ayala-Madrigal Julio Sánchez Del Monte Richard Quispe Alcides Recalde Florencia Neffa Carlos Sarroca Henrique de Campos Reis Galvão Mariano Golubicki Tamara A Piñero Pablo G Kalfayan Fabiana Alejandra Ferro Maria Laura Gonzalez Julyann Pérez-Mayoral Celia Aparecida Marques Pimenta Sandra Patricia Bello Uyaban Ana Protzel Guiliana Chávez Milagros Dueñas María Luisa Guevara Gil Enrique Spirandelli Sergio Chialina Magdalena Echeverry Luis José Palacios Fuenmayor Mariela Torres Thais F Bonfim Palma Nadia Cambados Héritas Claudia Martin Alfonso Suárez Michael Vallejo Ana Rafaela de Souza Timoteo Carlos Afanador Ayala Gabriela Jaramillo-Koupermann Jesús Arturo Hernández-Sandoval Angélica Hernandez Guerrero Constantino Dominguez-Barrera Juan Carlos Bazo-Alvarez Patrik Wernhoff John-Paul Plazzer Yesilda Balavarca Eivind Hovig Pål Møller Mev Dominguez-Valentin

Eur J Cancer 2019 Sep 20;119:112-121. Epub 2019 Aug 20.

Department of Tumor Biology, Institute for Cancer Research, Oslo University Hospital, Oslo, Norway. Electronic address:

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http://dx.doi.org/10.1016/j.ejca.2019.07.017DOI Listing
September 2019

From colorectal cancer pattern to the characterization of individuals at risk: Picture for genetic research in Latin America.

Int J Cancer 2019 Jul 5;145(2):318-326. Epub 2018 Dec 5.

Department of Tumor Biology, Institute for Cancer Research, Oslo University Hospital, Oslo, Norway.

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http://doi.wiley.com/10.1002/ijc.31920
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http://dx.doi.org/10.1002/ijc.31920DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6587543PMC
July 2019

Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database.

Genet Med 2019 Jul 24. Epub 2019 Jul 24.

Department of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.

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http://dx.doi.org/10.1038/s41436-019-0596-9DOI Listing
July 2019

Low Gene Dosage of Cdc42 Is Not Associated with Protein Dysfunction in Patients with Colorectal Cancer.

DNA Cell Biol 2016 Dec 19;35(12):819-827. Epub 2016 Aug 19.

1 Deparment of Pharmacy, Faculty of Chemistry, Pontificia Universidad Católica de Chile, Santiago de Chile, Chile .

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http://dx.doi.org/10.1089/dna.2015.3098DOI Listing
December 2016

Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review.

Eur J Paediatr Neurol 2015 Sep 14;19(5):497-503. Epub 2015 May 14.

Unit of Neurology, Dept. of Pediatrics and Dept. of Neurology, Clínica las Condes, Santiago, Chile.

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http://dx.doi.org/10.1016/j.ejpn.2015.04.008DOI Listing
September 2015

Muscle magnetic resonance imaging and histopathology in ACTA1-related congenital nemaline myopathy.

Muscle Nerve 2014 Dec 30;50(6):1011-6. Epub 2014 Oct 30.

Unidad de Neurología. Departamento de Pediatría, Clínica las Condes, Lo Fontecilla 441, Las Condes, Santiago, Chile.

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http://dx.doi.org/10.1002/mus.24353DOI Listing
December 2014

Activating PIK3CA somatic mutation in congenital unilateral isolated muscle overgrowth of the upper extremity.

Am J Med Genet A 2014 Sep 26;164A(9):2365-9. Epub 2014 Jun 26.

Unit of Neurology, Dept. of Pediatrics, Clínica Las Condes, Santiago, Chile.

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http://dx.doi.org/10.1002/ajmg.a.36651DOI Listing
September 2014

Medical genetics and genetic counseling in Chile.

J Genet Couns 2013 Dec 7;22(6):869-74. Epub 2013 Jun 7.

Center for Human Genetics, Facultad de Medicina Clínica Alemana-Universidad del Desarrollo, Av. Las Condes 12438, Santiago, Chile, 7710162,

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http://doi.wiley.com/10.1007/s10897-013-9607-1
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http://dx.doi.org/10.1007/s10897-013-9607-1DOI Listing
December 2013

[Homozygous germline mutation in MUTYH gene in familial adenomatous polyposis].

Rev Med Chil 2012 Nov;140(11):1457-63

Laboratorio de Oncología y Genética Molecular, Unidad de Coloproctología, Clínica Las Condes, Santiago, Chile.

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http://dx.doi.org/10.4067/S0034-98872012001100013DOI Listing
November 2012

Novel human pathological mutations. Gene symbol: APC. Disease: adenomatous polyposis coli.

Hum Genet 2010 Apr;127(4):480

Department of Coloproctology, Las Condes Clinic, Santiago, Chile.

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April 2010

Novel human pathological mutations. Gene symbol: APC. Disease: Adenomatous polyposis coli.

Hum Genet 2010 Apr;127(4):481

Unidad de Coloproctologia, Clinica Las Condes, Santiago, Chile.

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April 2010

Novel human pathological mutations. Gene symbol: APC. Disease: adenomatous polyposis coli.

Hum Genet 2010 Apr;127(4):481

Unidad de Coloproctologia, Clinica Las Condes, Santiago, Chile.

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April 2010

[Hereditary non-polyposis colorectal cancer. Report of four siblings].

Rev Med Chil 2008 Jun 26;136(6):757-62. Epub 2008 Aug 26.

Departamento de Cirugía Digestiva, Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile.

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http://dx.doi.org//S0034-98872008000600011DOI Listing
June 2008

Mutational screening of the APC gene in Chilean families with familial adenomatous polyposis: nine novel truncating mutations.

Dis Colon Rectum 2007 Dec;50(12):2142-8

Departamento de Biología Celular y Molecular, Facultad de Ciencias Biológicas, Pontificia Universidad Católica de Chile, Santiago, Chile.

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http://dx.doi.org/10.1007/s10350-007-9044-zDOI Listing
December 2007

Increase in decorin and biglycan in Duchenne Muscular Dystrophy: role of fibroblasts as cell source of these proteoglycans in the disease.

J Cell Mol Med 2006 Jul-Sep;10(3):758-69

Departamento de Neurología, Facultad de Medicina. Pontificia Universidad Católica de Chile, Santiago, Chile.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3933157PMC
http://dx.doi.org/10.1111/j.1582-4934.2006.tb00435.xDOI Listing
January 2007

PIASgamma represses the transcriptional activation induced by the nuclear receptor Nurr1.

J Biol Chem 2004 Jan 14;279(3):2005-11. Epub 2003 Oct 14.

Departamento de Biología Celular y Molecular, Facultad de Ciencias Biológicas, Pontificia Universidad Católica de Chile, Alameda 340, P.O. Box 114-D, Santiago, Chile.

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http://dx.doi.org/10.1074/jbc.M308113200DOI Listing
January 2004

Augmented synthesis and differential localization of heparan sulfate proteoglycans in Duchenne muscular dystrophy.

J Cell Biochem 2002 ;85(4):703-13

Centro de Regulación y Patología, Departamento de Biología Celular y Molecular, Facultad de Ciencias Biológicas, MIFAB, P. Universidad Católica de Chile, Santiago, Chile.

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http://dx.doi.org/10.1002/jcb.10184DOI Listing
October 2002