Publications by authors named "Luisa Herrera"

25Publications

Knobloch syndrome in a patient from Chile.

Am J Med Genet A 2020 10 22;182(10):2239-2242. Epub 2020 Jul 22.

School of Medical Technology, Facultad de Medicina, Universidad de Chile, Santiago, Chile.

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http://dx.doi.org/10.1002/ajmg.a.61760DOI Listing
October 2020

SERT and BDNF polymorphisms interplay on neuroticism in borderline personality disorder.

BMC Res Notes 2020 Feb 7;13(1):61. Epub 2020 Feb 7.

Department of Psychiatry and Mental Health, North Division, Faculty of Medicine, Universidad de Chile, Av. La Paz 1003, Recoleta, Santiago, Chile.

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http://dx.doi.org/10.1186/s13104-020-4924-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7006183PMC
February 2020

Monocular nystagmus in a patient with alternating hemiplegia of childhood.

Neurology 2019 08;93(8):361

From Pediatric Neurology (J.T., I.R., M.T.), the Hospital Clínico San Borja Arriarán, Central Campus Universidad de Chile; Human Genetics Program (L.H., A.M.), ICBM, Facultad de Medicina, Universidad de Chile, Santiago; and Hospital Regional de Talca (P.A.), Universidad Católica del Maule, Pediatric Neurology, Talca, Chile.

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http://dx.doi.org/10.1212/WNL.0000000000007977DOI Listing
August 2019

Shifting the focus toward rare variants in schizophrenia to close the gap from genotype to phenotype.

Am J Med Genet B Neuropsychiatr Genet 2017 Oct 14;174(7):663-670. Epub 2017 Jun 14.

Clínica Psiquiátrica Universitaria, Universidad de Chile, Santiago de Chile, Chile.

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http://dx.doi.org/10.1002/ajmg.b.32550DOI Listing
October 2017

[Clinical and genetic study patients with tuberous sclerosis complex].

Rev Chil Pediatr 2017 Feb;88(1):41-49

Programa de Genética Humana, Instituto de Ciencias Biomédicas, Facultad de Medicina, Universidad de Chile, Santiago, Chile.

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http://dx.doi.org/10.1016/j.rchipe.2016.08.003DOI Listing
February 2017

Pan-American mDNA haplogroups in Chilean patients with Leber's hereditary optic neuropathy.

Mol Vis 2014 14;20:334-40. Epub 2014 Mar 14.

Programa de Genética Humana, ICBM, Facultad de Medicina, Universidad de Chile, Santiago, Chile.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3962688PMC
September 2014

Epigenetic alterations related to early-life stressful events.

Acta Neuropsychiatr 2012 Oct;24(5):255-65

Human Genetics Program, Faculty of Medicine, Institute of Biomedical Sciences, Universidad de Chile, Santiago, Chile.

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http://dx.doi.org/10.1111/j.1601-5215.2012.00683.xDOI Listing
October 2012

c.194 A>C (Q65P) mutation in the LMX1B gene in patients with nail-patella syndrome associated with glaucoma.

Mol Vis 2011 16;17:1929-39. Epub 2011 Jul 16.

Departamento de Oftalmología, Hospital Clínico José Joaquín Aguirre, Universidad de Chile, Santiago, Chile.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3154131PMC
December 2011

Different phenotypes of lattice corneal dystrophy type I in patients with 417C>T (R124C) and 1762A>G (H572R) mutations in TGFBI (BIGH3).

Mol Vis 2010 Aug 13;16:1601-9. Epub 2010 Aug 13.

Depto. de Oftalmología, Hospital Clínico José Joaquín Aguirre, Universidad de Chile, Santiago, Chile.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2927433PMC
August 2010

Anticipation in familial lattice corneal dystrophy type I with R124C mutation in the TGFBI (BIGH3) gene.

Mol Vis 2008 May 7;14:829-35. Epub 2008 May 7.

Depto de Oftalmología, Hospital Clínico José Joaquin Aguirre, Universidad de Chile, Santiago, Chile.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2373796PMC
May 2008

NOD2/CARD15 and Toll-like 4 receptor gene polymorphism in Chilean patients with inflammatory bowel disease.

Eur Cytokine Netw 2006 Jun;17(2):125-30

Department of Internal Medicine, Gastroenterology, Hospital Clínico Universidad de Chile, Santiago de Chile.

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June 2006

Mouse ovary developmental RNA and protein markers from gene expression profiling.

Dev Biol 2005 Mar;279(2):271-90

Laboratory of Genetics, Gerentalogy Research Centre, National Institute on Aging, Suite 3000, 333 Cassell Drive, Baltimore, MD 21224, USA.

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http://dx.doi.org/10.1016/j.ydbio.2004.11.029DOI Listing
March 2005

Genes and translocations involved in POF.

Am J Med Genet 2002 Aug;111(3):328-33

Laboratory of Genetics, National Institute on Aging, Baltimore, Maryland 21224, USA.

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http://dx.doi.org/10.1002/ajmg.10565DOI Listing
August 2002